|Institutional Source||Beutler Lab|
|Gene Name||phospholipase A2 receptor 1|
|Synonyms||M-type receptor, Pla2g1br, PLA2-I receptor|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6923 (G1)|
|Chromosomal Location||60417543-60553308 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 60514966 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 349 (E349K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000108144 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000112525]|
|Predicted Effect||probably benign
AA Change: E349K
PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: E349K
|Coding Region Coverage||
|Validation Efficiency||100% (59/59)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pla2r1||
(F):5'- GCATGGTACTTCAGGATGGC -3'
(R):5'- ACAATTATAGTGAGTGTCCTGTAGG -3'
(F):5'- ATGGCCGGGGTCACTTACAC -3'
(R):5'- TGTAGGGGGCGCTACAG -3'