Pla2r1 - SNV Details



 Gene Information 
Gene Name Pla2r1
Old Gene Names for Pla2r1 Pla2g1br
Gene Description phospholipase A2 receptor 1 [Source:MGI Symbol;Acc:MGI:102468]
MGI phenotype Homozygous null mice are viable and fertile with no overt abnormalities. These mice are more resistant to toxic effects of lipopolysaccharide than controls, suggesting a role for this gene in the progression of endotoxic shock.
Uniprot Name
CCDS Name
Gene GO
negative regulation of arachidonic acid secretion; receptor activity; replicative senescence; negative regulation of phospholipase A2 activity; cell surface; integral component of membrane; positive regulation of DNA damage response
signal transduction by p53 class mediator; extracellular vesicular exosome; carbohydrate binding; positive regulation of arachidonic acid secretion; receptor-mediated endocytosis; oxidative stress-induced premature senescence; phospholipase binding; extracellular region; reactive oxygen species metabolic process; plasma membrane; cytokine production; receptor complex
Homolog in other species PLA2R1
Omim http://omim.org/entry/604939
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000054580
Chromosome 2
Coordinate 60,428,580     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 26
Allele Frequency
A:R0.62
G:V0.35
Amino Acid Change F->L (Phenylalanine -> Leucine)
Sample ID IGL03233
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Polyphen Score 0.71
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved