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Date: Fri Dec 13 2024
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Prkra
lear-5J
MGI:5692073
Allele of
Prkra
Mus musculus
Summary
Transgenic Constructs
Genomic Variant Information
Variant Molecular Consequences
Phenotypes
Disease Associations
Allele/Variant
Prkra
lear-5J
Species
Mus musculus
Symbol
Prkra
lear-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
Show All 3
HGVS.c name
ENSEMBL:ENSMUST00000002808.1:c.527_528insA
RefSeq:NM_001421199.1:c.527_528insA
Show All 11
HGVS.p name
ENSEMBL:ENSMUSP00000002808:p.Gln179ThrfsTer8
RefSeq:NP_001408128.1:p.Gln179ThrfsTer8
Show All 11
Synonyms
Not Available
Notes
Not Available
Cross references
MGI:5692073
References
PMID:26234751
All alleles with this variant
Download Variants Data
Genome location
Chr2:76460242...76478359
- (18.12 kb)
Assembly version
GRCm39
Viewer Help
76.462M
76.464M
76.466M
76.468M
76.470M
76.472M
76.474M
76.476M
76.478M
Variant Types and Consequences
Only 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
Show all details
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
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