Version: 8.0.0
Date: Tue Jan 28 2025
Adgrv1
Mus musculusMGI:1274784
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Adgrv1

Species
Mus musculus
Symbol
Adgrv1
Name
adhesion G protein-coupled receptor V1
Synonyms
  • G protein-coupled receptor 98
  • Gpr98
Biotype
protein coding gene
Automated Description
Enables several functions, including G-protein alpha-subunit binding activity; adenylate cyclase inhibitor activity; and myosin binding activity. Involved in several processes, including negative regulation of adenylate cyclase activity; positive regulation of bone mineralization; and self proteolysis. Acts upstream of or within several processes, including detection of mechanical stimulus involved in sensory perception of sound; inner ear receptor cell stereocilium organization; and positive regulation of cAMP/PKA signal transduction. Located in several cellular components, including periciliary membrane compartment; photoreceptor connecting cilium; and stereocilia ankle link. Part of USH2 complex and stereocilia ankle link complex. Is active in stereocilium. Is expressed in several structures, including brain; eye; neural ectoderm; reproductive system; and spinal cord. Used to study Usher syndrome type 2C. Human ortholog(s) of this gene implicated in Usher syndrome type 2C and familial febrile seizures 4. Orthologous to human ADGRV1 (adhesion G protein-coupled receptor V1).
MGI Description
PHENOTYPE: Homozygotes for a spontaneous and a targeted mutation exhibit high sensitivity to audiogenic seizures. Targeted mutant mice lack the ankle links that connect growing stereocilia in the developing cochlear hair cells. Homozygous KO mice are deaf. Homozygosity for the c.6748Gdel deletion leads to Usher syndrome type 2C. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR46682
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
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    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

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        Experimental condition
        Associated Human Diseases
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Adgrv1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
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            Genetic Interactions

            Adgrv1 role
            Adgrv1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
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