Allele/Variant

Pappa2M4Btlr

Species
Mus musculus
Symbol
Pappa2M4Btlr
Category
allele
Allele of gene
Pappa2
Transgenic Constructs
None
Synonyms
  • Pitzel
Description
ENU-induced A to T transversion at base pair 158,956,645 (v38) on chromosome 1, or base pair 23,883 in the GenBank genomic region NC_000067. The mutation corresponds to residue 794 in the mRNA sequence NM_001085376 within exon 1 of 22 total exons. The mutation results in a tyrosine to phenylalanine substitution at position 265 (Y265F) in the PAPP-A2 protein.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

NC_000067.7:g.158784215T>A

Symbol
NC_000067.7:g.158784215T>A
Category
Variant
Variant type
point mutation
Overlaps
Pappa2
Location
1:158784215
Nucleotide Change
T>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000067.7:g.158784215T>A
  • (GRCm39)1:158784215T>A
HGVS.c name
  • ENSEMBL:ENSMUST00000159861.1:c.794A>T
  • RefSeq:NM_001085376.3:c.794A>T
HGVS.p name
  • ENSEMBL:ENSMUSP00000124022:p.Tyr265Phe
  • RefSeq:NP_001078845.1:p.Tyr265Phe
Synonyms
Not Available
Notes
Not Available
Cross references
MGI:6283598
References
Not Available
All alleles with this variant

Genome location
Assembly version
GRCm39
Viewer Help
158.54M158.56M158.58M158.60M158.62M158.64M158.66M158.68M158.70M158.72M158.74M158.76M158.78M
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_000067.7:g.158784215T>A

Variant
NC_000067.7:g.158784215T>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 body weight
    MGI
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    Disease Associations

    No data available