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Spontaneous Allele Detail
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
Strain of Origin:  various
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
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
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
MGI 6.16
The Jackson Laboratory