P2rx7^rs48804829-T
Spontaneous Allele Detail

Summary

• Symbol: P2rx7^rs48804829-T
• Name: purinergic receptor P2X, ligand-gated ion channel, 7; rs48804829 SNP allele with the T variant
• MGI ID: MGI:3042190
• Synonyms: P2rx7^P451L
• Gene: P2rx7 Location: Chr5:122781974-122829495 bp, + strand Genetic Position: Chr5, 62.5 cM, cytoband F
• Alliance: P2rx7^rs48804829-T page

Mutation origin

• Strain of Origin: various

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: The 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

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: 54 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: 18 reference(s)