Allele/Variant

Prkralear-5J

Species
Mus musculus
Symbol
Prkralear-5J
Category
allele
Allele of gene
Prkra
Transgenic Constructs
None
Synonyms
None
Description
This spontaneous T insertion/duplication (an extra T in the poly(T) stretch) between chromosome 2 76,636,870-76 bp (GRCm38) causes a frameshift that introduces 7 novel amino acids followed by a premature stop codon.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

NC_000068.8:g.76467220_76467221insT

Symbol
NC_000068.8:g.76467220_76467221insT
Category
Variant
Variant type
insertion
Overlaps
Prkra
Location
2:76467220-76467221
Nucleotide Change
>tT
Most Severe Consequence
  • frameshift variant
See all consequences
HGVS.g name
  • (GRCm39)2:76467220_76467221insT
  • 2:g.76467220dup
HGVS.c name
  • ENSEMBL:ENSMUST00000002808.1:c.527_528insA
  • RefSeq:NM_001421199.1:c.527_528insA
HGVS.p name
  • ENSEMBL:ENSMUSP00000002808:p.Gln179ThrfsTer8
  • RefSeq:NP_001408128.1:p.Gln179ThrfsTer8
Synonyms
Not Available
Notes
Not Available
Cross references
MGI:5692073
References
All alleles with this variant

Genome location
Assembly version
GRCm39
Viewer Help
76.462M76.464M76.466M76.468M76.470M76.472M76.474M76.476M76.478M
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_000068.8:g.76467220_76467221insT

Variant
NC_000068.8:g.76467220_76467221insT
Variant type:
insertion
Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
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    Phenotypes

    No data available

    Disease Associations

    No data available