Incidental Mutation 'R0718:Pla2r1'
ID 63673
Institutional Source Beutler Lab
Gene Symbol Pla2r1
Ensembl Gene ENSMUSG00000054580
Gene Name phospholipase A2 receptor 1
Synonyms PLA2-I receptor, M-type receptor, Pla2g1br
MMRRC Submission 038900-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0718 (G1)
Quality Score 158
Status Validated
Chromosome 2
Chromosomal Location 60247887-60383652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 60309874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 570 (V570L)
Ref Sequence ENSEMBL: ENSMUSP00000108144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112525]
AlphaFold Q62028
Predicted Effect possibly damaging
Transcript: ENSMUST00000112525
AA Change: V570L

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108144
Gene: ENSMUSG00000054580
AA Change: V570L

DomainStartEndE-ValueType
low complexity region 35 62 N/A INTRINSIC
RICIN 77 189 2.98e-16 SMART
FN2 209 257 1.17e-25 SMART
CLECT 267 392 7.66e-30 SMART
CLECT 415 539 1.88e-29 SMART
CLECT 552 679 5.42e-21 SMART
CLECT 699 832 3.58e-21 SMART
CLECT 847 973 7.55e-20 SMART
CLECT 992 1131 5.05e-30 SMART
CLECT 1148 1267 4.72e-21 SMART
CLECT 1281 1412 1.44e-25 SMART
transmembrane domain 1432 1454 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128208
Meta Mutation Damage Score 0.1372 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (96/96)
MGI Phenotype 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
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 A T 3: 95,586,918 (GRCm39) Y811N possibly damaging Het
Adrm1 T C 2: 179,816,940 (GRCm39) probably benign Het
Alms1 T A 6: 85,598,803 (GRCm39) S1210T probably benign Het
Ampd3 C T 7: 110,377,015 (GRCm39) P11L probably damaging Het
Arhgap5 A G 12: 52,563,290 (GRCm39) E87G possibly damaging Het
Armc5 C T 7: 127,839,242 (GRCm39) probably benign Het
Asic2 C G 11: 80,862,282 (GRCm39) probably benign Het
Asph A G 4: 9,514,683 (GRCm39) probably benign Het
Bicd2 T A 13: 49,531,351 (GRCm39) probably null Het
Brip1 A G 11: 86,034,131 (GRCm39) L530P possibly damaging Het
Bsn G T 9: 107,988,559 (GRCm39) probably benign Het
Btnl4 T A 17: 34,688,608 (GRCm39) H390L probably benign Het
Ccdc70 A C 8: 22,463,324 (GRCm39) K38T probably damaging Het
Ccni G A 5: 93,350,175 (GRCm39) P35S probably benign Het
Cdh17 A G 4: 11,810,451 (GRCm39) D714G possibly damaging Het
Cenpf A G 1: 189,386,181 (GRCm39) L2033P probably damaging Het
Cfap69 A T 5: 5,671,924 (GRCm39) M328K probably damaging Het
Cmah T G 13: 24,601,193 (GRCm39) probably null Het
Cog6 T C 3: 52,918,050 (GRCm39) T163A probably benign Het
Cyp2j8 G A 4: 96,389,433 (GRCm39) S130F probably benign Het
Dgki A G 6: 36,989,831 (GRCm39) V636A probably damaging Het
Dmkn T A 7: 30,464,211 (GRCm39) probably benign Het
Dnah6 A G 6: 73,012,276 (GRCm39) I3679T possibly damaging Het
Dsp A T 13: 38,380,740 (GRCm39) Y2495F possibly damaging Het
Exosc4 C T 15: 76,213,689 (GRCm39) A171V probably benign Het
Fbxw24 A G 9: 109,452,577 (GRCm39) probably benign Het
Flvcr1 A T 1: 190,757,779 (GRCm39) L171Q probably damaging Het
Fsd1 G T 17: 56,303,445 (GRCm39) probably null Het
Gm7732 A G 17: 21,350,106 (GRCm39) noncoding transcript Het
H2-K2 A C 17: 34,194,597 (GRCm39) noncoding transcript Het
Hgf A G 5: 16,798,857 (GRCm39) N295S probably damaging Het
Ift88 T A 14: 57,754,870 (GRCm39) D811E probably benign Het
Igsf9b T A 9: 27,234,657 (GRCm39) probably null Het
Immt T A 6: 71,840,156 (GRCm39) V311E probably damaging Het
Ipo11 T A 13: 107,056,119 (GRCm39) N51I possibly damaging Het
Isy1 T C 6: 87,796,158 (GRCm39) K260E probably damaging Het
Jchain T G 5: 88,674,061 (GRCm39) I28L probably benign Het
Jmjd1c T A 10: 67,054,725 (GRCm39) probably null Het
Kif13b T C 14: 64,989,111 (GRCm39) probably benign Het
Klhdc7b T C 15: 89,272,372 (GRCm39) Y427H possibly damaging Het
Klhl8 T C 5: 104,024,159 (GRCm39) probably benign Het
Lrp2 C T 2: 69,341,292 (GRCm39) D963N probably damaging Het
Ltbp3 G T 19: 5,796,776 (GRCm39) probably benign Het
Ltf C A 9: 110,869,447 (GRCm39) Q41K probably benign Het
Med4 T A 14: 73,754,097 (GRCm39) I148N probably damaging Het
Mlh3 T G 12: 85,294,471 (GRCm39) S1242R possibly damaging Het
Mllt6 T C 11: 97,567,185 (GRCm39) probably benign Het
Mpdz A G 4: 81,210,710 (GRCm39) I1712T possibly damaging Het
Mrgprb4 T A 7: 47,848,301 (GRCm39) H209L probably benign Het
Nkapl A T 13: 21,652,610 (GRCm39) M1K probably null Het
Nmur2 T A 11: 55,920,324 (GRCm39) probably benign Het
Nsun2 T A 13: 69,691,816 (GRCm39) probably benign Het
Or10ag60 A G 2: 87,438,271 (GRCm39) I180V probably benign Het
Or8k35 G A 2: 86,424,425 (GRCm39) T249I probably benign Het
Ovgp1 T C 3: 105,882,146 (GRCm39) probably benign Het
Pcdh8 A G 14: 80,008,131 (GRCm39) V144A possibly damaging Het
Pcnx3 G A 19: 5,727,756 (GRCm39) probably benign Het
Plxnd1 C A 6: 115,943,599 (GRCm39) E1202D possibly damaging Het
Ppp1r37 T C 7: 19,266,179 (GRCm39) E529G probably benign Het
Prdm15 A G 16: 97,613,833 (GRCm39) F496L possibly damaging Het
Prlhr G T 19: 60,456,497 (GRCm39) S23* probably null Het
Prlhr A T 19: 60,456,443 (GRCm39) V41D probably benign Het
Prpf4 C T 4: 62,332,777 (GRCm39) probably benign Het
Psg26 C T 7: 18,209,160 (GRCm39) R416H probably benign Het
Psg26 T C 7: 18,212,212 (GRCm39) H381R probably benign Het
Ralgds T G 2: 28,439,128 (GRCm39) M717R probably benign Het
Rbms1 T C 2: 60,672,756 (GRCm39) N44D probably damaging Het
Rpa1 T C 11: 75,209,227 (GRCm39) probably benign Het
Rprd2 T C 3: 95,673,699 (GRCm39) N568S probably benign Het
Rptor A G 11: 119,763,202 (GRCm39) M929V probably benign Het
Rspo1 T A 4: 124,900,942 (GRCm39) C97S possibly damaging Het
Scin C T 12: 40,129,606 (GRCm39) G396S probably damaging Het
Scn9a T C 2: 66,377,456 (GRCm39) N409D probably damaging Het
Sf3b1 A G 1: 55,058,544 (GRCm39) I15T probably damaging Het
Sh3bp2 T C 5: 34,712,839 (GRCm39) V149A probably damaging Het
Slc39a12 T A 2: 14,412,237 (GRCm39) probably benign Het
Sp9 G T 2: 73,104,171 (GRCm39) A242S possibly damaging Het
Srr A G 11: 74,801,891 (GRCm39) V126A possibly damaging Het
Tatdn3 G T 1: 190,785,046 (GRCm39) probably benign Het
Tex14 G A 11: 87,390,439 (GRCm39) V379I probably benign Het
Tmed6 T C 8: 107,788,356 (GRCm39) N197S probably damaging Het
Ttbk2 A T 2: 120,575,641 (GRCm39) I1043N probably benign Het
Ttbk2 G A 2: 120,579,056 (GRCm39) L689F probably benign Het
Ttn A G 2: 76,641,040 (GRCm39) S5283P probably damaging Het
Ube3b C A 5: 114,540,616 (GRCm39) S441* probably null Het
Ush2a G A 1: 188,530,027 (GRCm39) C3272Y probably damaging Het
Vac14 T A 8: 111,359,109 (GRCm39) I95K probably damaging Het
Vangl2 G A 1: 171,833,784 (GRCm39) A433V probably damaging Het
Vwa5b1 A T 4: 138,336,135 (GRCm39) V153D probably damaging Het
Zfhx3 T A 8: 109,682,282 (GRCm39) D3240E unknown Het
Zfp945 A G 17: 23,070,004 (GRCm39) C632R probably damaging Het
Zfyve26 G A 12: 79,312,576 (GRCm39) probably benign Het
Zyg11b A T 4: 108,099,273 (GRCm39) I606N possibly damaging Het
Other mutations in Pla2r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Pla2r1 APN 2 60,250,769 (GRCm39) missense probably benign
IGL00886:Pla2r1 APN 2 60,254,668 (GRCm39) missense probably damaging 1.00
IGL00928:Pla2r1 APN 2 60,365,424 (GRCm39) missense probably damaging 0.99
IGL01361:Pla2r1 APN 2 60,309,814 (GRCm39) missense probably damaging 1.00
IGL01403:Pla2r1 APN 2 60,254,632 (GRCm39) missense probably damaging 0.99
IGL01475:Pla2r1 APN 2 60,271,425 (GRCm39) splice site probably benign
IGL01517:Pla2r1 APN 2 60,334,597 (GRCm39) missense probably damaging 1.00
IGL01646:Pla2r1 APN 2 60,325,708 (GRCm39) missense probably damaging 1.00
IGL02208:Pla2r1 APN 2 60,258,932 (GRCm39) missense possibly damaging 0.81
IGL02301:Pla2r1 APN 2 60,282,780 (GRCm39) missense probably benign 0.01
IGL02522:Pla2r1 APN 2 60,259,013 (GRCm39) missense probably benign 0.11
IGL02688:Pla2r1 APN 2 60,285,545 (GRCm39) missense probably damaging 1.00
IGL02822:Pla2r1 APN 2 60,285,517 (GRCm39) missense probably damaging 1.00
IGL02850:Pla2r1 APN 2 60,332,413 (GRCm39) missense probably benign 0.03
IGL03233:Pla2r1 APN 2 60,258,924 (GRCm39) missense possibly damaging 0.63
IGL03350:Pla2r1 APN 2 60,285,517 (GRCm39) missense probably damaging 1.00
IGL02980:Pla2r1 UTSW 2 60,345,390 (GRCm39) missense possibly damaging 0.77
R0105:Pla2r1 UTSW 2 60,345,325 (GRCm39) missense possibly damaging 0.89
R0105:Pla2r1 UTSW 2 60,345,325 (GRCm39) missense possibly damaging 0.89
R0387:Pla2r1 UTSW 2 60,262,945 (GRCm39) missense probably benign 0.03
R0522:Pla2r1 UTSW 2 60,309,859 (GRCm39) missense probably benign 0.01
R0550:Pla2r1 UTSW 2 60,255,694 (GRCm39) critical splice donor site probably null
R0906:Pla2r1 UTSW 2 60,345,291 (GRCm39) missense possibly damaging 0.79
R0945:Pla2r1 UTSW 2 60,288,754 (GRCm39) missense possibly damaging 0.89
R1229:Pla2r1 UTSW 2 60,365,106 (GRCm39) missense probably benign 0.09
R1397:Pla2r1 UTSW 2 60,365,106 (GRCm39) missense probably benign 0.09
R1667:Pla2r1 UTSW 2 60,250,601 (GRCm39) missense probably benign 0.00
R1668:Pla2r1 UTSW 2 60,258,990 (GRCm39) missense probably damaging 0.99
R1694:Pla2r1 UTSW 2 60,271,428 (GRCm39) critical splice donor site probably null
R1864:Pla2r1 UTSW 2 60,259,055 (GRCm39) missense probably benign 0.01
R2029:Pla2r1 UTSW 2 60,262,317 (GRCm39) missense probably damaging 0.99
R2035:Pla2r1 UTSW 2 60,253,080 (GRCm39) missense probably damaging 1.00
R2207:Pla2r1 UTSW 2 60,288,779 (GRCm39) missense probably damaging 1.00
R2429:Pla2r1 UTSW 2 60,345,312 (GRCm39) missense probably damaging 1.00
R3196:Pla2r1 UTSW 2 60,353,127 (GRCm39) missense probably damaging 1.00
R3522:Pla2r1 UTSW 2 60,279,250 (GRCm39) missense probably damaging 1.00
R3973:Pla2r1 UTSW 2 60,279,306 (GRCm39) missense probably benign 0.30
R4006:Pla2r1 UTSW 2 60,353,217 (GRCm39) missense probably damaging 1.00
R4091:Pla2r1 UTSW 2 60,262,937 (GRCm39) missense probably damaging 1.00
R4158:Pla2r1 UTSW 2 60,252,966 (GRCm39) missense probably damaging 0.97
R4160:Pla2r1 UTSW 2 60,252,966 (GRCm39) missense probably damaging 0.97
R4168:Pla2r1 UTSW 2 60,327,958 (GRCm39) nonsense probably null
R4541:Pla2r1 UTSW 2 60,258,082 (GRCm39) missense probably damaging 1.00
R4712:Pla2r1 UTSW 2 60,258,994 (GRCm39) missense probably damaging 1.00
R4797:Pla2r1 UTSW 2 60,334,524 (GRCm39) missense possibly damaging 0.47
R4884:Pla2r1 UTSW 2 60,365,328 (GRCm39) missense probably damaging 1.00
R4923:Pla2r1 UTSW 2 60,253,056 (GRCm39) missense probably benign 0.31
R5017:Pla2r1 UTSW 2 60,353,104 (GRCm39) splice site probably null
R5116:Pla2r1 UTSW 2 60,279,250 (GRCm39) missense probably damaging 1.00
R5641:Pla2r1 UTSW 2 60,345,328 (GRCm39) missense probably damaging 1.00
R5807:Pla2r1 UTSW 2 60,259,065 (GRCm39) missense possibly damaging 0.78
R5898:Pla2r1 UTSW 2 60,253,104 (GRCm39) missense probably damaging 1.00
R6241:Pla2r1 UTSW 2 60,332,543 (GRCm39) splice site probably null
R6923:Pla2r1 UTSW 2 60,345,310 (GRCm39) missense probably benign 0.11
R7020:Pla2r1 UTSW 2 60,277,743 (GRCm39) missense possibly damaging 0.79
R7028:Pla2r1 UTSW 2 60,288,737 (GRCm39) missense probably damaging 0.98
R7257:Pla2r1 UTSW 2 60,257,969 (GRCm39) critical splice donor site probably null
R7291:Pla2r1 UTSW 2 60,360,779 (GRCm39) missense probably benign 0.43
R7350:Pla2r1 UTSW 2 60,288,723 (GRCm39) missense probably benign 0.02
R7451:Pla2r1 UTSW 2 60,365,346 (GRCm39) missense probably damaging 1.00
R7553:Pla2r1 UTSW 2 60,353,243 (GRCm39) missense possibly damaging 0.80
R7635:Pla2r1 UTSW 2 60,365,106 (GRCm39) missense probably benign 0.09
R7768:Pla2r1 UTSW 2 60,279,290 (GRCm39) missense probably benign 0.22
R7774:Pla2r1 UTSW 2 60,360,802 (GRCm39) nonsense probably null
R7782:Pla2r1 UTSW 2 60,334,531 (GRCm39) missense probably benign 0.01
R7832:Pla2r1 UTSW 2 60,334,536 (GRCm39) missense possibly damaging 0.79
R7843:Pla2r1 UTSW 2 60,277,819 (GRCm39) missense possibly damaging 0.88
R7900:Pla2r1 UTSW 2 60,258,858 (GRCm39) missense possibly damaging 0.94
R8010:Pla2r1 UTSW 2 60,345,304 (GRCm39) missense probably benign 0.00
R8129:Pla2r1 UTSW 2 60,262,944 (GRCm39) missense probably damaging 1.00
R8336:Pla2r1 UTSW 2 60,253,027 (GRCm39) missense possibly damaging 0.88
R8347:Pla2r1 UTSW 2 60,365,247 (GRCm39) missense probably damaging 0.98
R8359:Pla2r1 UTSW 2 60,273,627 (GRCm39) missense probably benign 0.00
R8682:Pla2r1 UTSW 2 60,253,120 (GRCm39) missense possibly damaging 0.89
R8845:Pla2r1 UTSW 2 60,259,053 (GRCm39) missense possibly damaging 0.52
R8901:Pla2r1 UTSW 2 60,332,400 (GRCm39) missense
R9085:Pla2r1 UTSW 2 60,255,791 (GRCm39) missense probably damaging 0.99
R9130:Pla2r1 UTSW 2 60,325,729 (GRCm39) intron probably benign
R9140:Pla2r1 UTSW 2 60,271,455 (GRCm39) missense probably benign 0.10
R9399:Pla2r1 UTSW 2 60,282,744 (GRCm39) critical splice donor site probably null
R9449:Pla2r1 UTSW 2 60,258,902 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTCTCCAGCGATAGCTGAATCCC -3'
(R):5'- CAAAAGTCTTGCGGTTTTCCTGGTC -3'

Sequencing Primer
(F):5'- TAGCTGAATCCCTGGAAATATCACG -3'
(R):5'- CCATCCTGTGCACTTTATTATGC -3'
Posted On 2013-07-30