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P2rx7rs48804829-T
Spontaneous Allele Detail
Nomenclature
Symbol: P2rx7rs48804829-T
Name: purinergic receptor P2X, ligand-gated ion channel, 7; rs48804829 SNP allele with the T variant
MGI ID: MGI:3042190
Synonyms: P2rx7P451L
Gene: P2rx7  Location: Chr5:122643911-122691432 bp, + strand  Genetic Position: Chr5, 62.5 cM, cytoband F
Mutation
origin
Strain of Origin:  various
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThe T variant of SNP rs48804829 at coding nucleotide 1352 codes for a leucine at codon 451 which yields a peptide with severely reduced activity. This variant is found in AKR/J, C3H/HeJ, C57BL/6, C57BL/10, CBA/J, DBA/1, DBA/2, FVB/NJ, and NZO/HILtJ. The wild-type C variant, coding for proline, is found in 129P2/OlaHsd, 129S1/SvImJ, 129S5SvEvBrd, A/J, BALB/c, CAST/EiJ ,NZW, LP/J, NOD/ShiLtJ, PWK/PhJ, WSB/EiJ, Mus caroli, M. spretus, M. musculus, and M. poschiavinus. The mutation lies within a C-terminal cytoplasmic domain homologous with the TNFR 1-death domain and with an SH3 binding protein. (J:79540)
Inheritance:    Not Specified
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 6 strains available      Cell Lines: 0 lines available
Carrying any P2rx7 Mutation:  15 strains or lines available
References
Original:  J:79540 Adriouch S, et al., Cutting Edge: A Natural P451L Mutation in the Cytoplasmic Domain Impairs the Function of the Mouse P2X7 Receptor. J Immunol. 2002 Oct 15;169(8):4108-12
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
04/13/2021
MGI 6.16
The Jackson Laboratory