Allele/Variant

Lrp5m2Btlr

Species
Mus musculus
Symbol
Lrp5m2Btlr
Category
allele
Allele of gene
Lrp5
Transgenic Constructs
None
Synonyms
  • Lrp5ex12+1
Description
ENU mutagenesis induced a point mutation (chr19:3662197C>A (GRCm39)), changing splice donor C-GT in intron 12 to C-TT.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

NC_000085.7:g.3662197C>A

Symbol
NC_000085.7:g.3662197C>A
Category
Variant
Variant type
point mutation
Overlaps
Lrp5
Location
19:3662197
Nucleotide Change
C>A
Most Severe Consequence
  • splice donor variant
See all consequences
HGVS.g name
  • (GRCm39)19:3662197C>A
  • 19:g.3662197C>A
HGVS.c name
  • ENSEMBL:ENSMUST00000025856.1:c.2824+1G>T
  • ENSEMBL:ENSMUST00000177294.1:c.649+1G>T
HGVS.p name
Synonyms
Not Available
Notes
  • changes splice donor C-GT in intron 12 to C-TT.
Cross references
MGI:6760633
References
All alleles with this variant

Genome location
Assembly version
GRCm39
Viewer Help
3.64M3.65M3.66M3.67M3.68M3.69M3.70M3.71M3.72M3.73M
Variant Types and ConsequencesOnly variants associated to alleles are shown in the graphics above. See all variants in JBrowse.

Variant Molecular Consequences

Predicted effect of NC_000085.7:g.3662197C>A

Variant
NC_000085.7:g.3662197C>A
Variant type:
point_mutation
Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
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    Phenotypes

    Phenotype
    Annotation details
    Source
    References
    decreased bone mineral density
    MGI
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    Disease Associations

    No data available