Allele/Variant

Ptprcm3Btlr

Species
Mus musculus
Symbol
Ptprcm3Btlr
Category
allele
Allele of gene
Ptprc
Transgenic Constructs
None
Synonyms
  • guotie2
Description
ENU treatment induced a T-to-C transition at base pair 138,094,299 (GRCm38) on chromosome 1, or base pair 76,276 in the GenBank genomic region NC_000067. The mutation corresponds to residue 1,669 in the mRNA sequence NM_001111316 within exon 15 of 33 total exons, residue 1,350 in the mRNA sequence NM_011210 within exon 12 of 30 total exons, and residue 1,278 in the mRNA sequence NM_001268286 within exon 11 of 29 total exons. The mutation results in a serine (S) to proline (P) substitution at position 544 (p.S544P) in variant 1 of the PTPRC protein, a p.S405P substitution in variant 2, and a p.S381P substitution in variant 3.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

NC_000067.7:g.138022037A>G

Symbol
NC_000067.7:g.138022037A>G
Category
Variant
Variant type
point mutation
Overlaps
Ptprc
Location
1:138022037
Nucleotide Change
A>G
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCm39)1:138022037A>G
  • 1:g.138022037A>G
HGVS.c name
  • ENSEMBL:ENSMUST00000182283.1:c.1213T>C
  • ENSEMBL:ENSMUST00000182755.1:c.1141T>C
HGVS.p name
  • ENSEMBL:ENSMUSP00000138275:p.Ser381Pro
  • ENSEMBL:ENSMUSP00000138350:p.Ser544Pro
Synonyms
Not Available
Notes
Not Available
Cross references
MGI:6113595
References
All alleles with this variant

Genome location
Assembly version
GRCm39
Viewer Help
138.00M138.01M138.02M138.03M138.04M138.05M138.06M138.07M138.08M138.09M138.10M
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.138022037A>G

Variant
NC_000067.7:g.138022037A>G
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 B cell number
    MGI
    decreased B-1a cell number
    MGI
    decreased B-2 B cell number
    MGI
    decreased CD8-positive, alpha-beta T cell number
    MGI
    increased B-1b cell number
    MGI
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    Disease Associations

    No data available