Incidental Mutation 'R3522:Pla2r1'
ID 267509
Institutional Source Beutler Lab
Gene Symbol Pla2r1
Ensembl Gene ENSMUSG00000054580
Gene Name phospholipase A2 receptor 1
Synonyms PLA2-I receptor, M-type receptor, Pla2g1br
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3522 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 60247887-60383652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60279250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 777 (Y777H)
Ref Sequence ENSEMBL: ENSMUSP00000108144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112525]
AlphaFold Q62028
Predicted Effect probably damaging
Transcript: ENSMUST00000067708
AA Change: Y777H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065205
Gene: ENSMUSG00000054580
AA Change: Y777H

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
RICIN 42 154 2.98e-16 SMART
FN2 174 222 1.17e-25 SMART
CLECT 232 357 7.66e-30 SMART
CLECT 380 504 1.88e-29 SMART
CLECT 517 644 5.42e-21 SMART
CLECT 664 797 3.58e-21 SMART
CLECT 812 938 7.55e-20 SMART
CLECT 957 1096 5.05e-30 SMART
CLECT 1113 1232 4.72e-21 SMART
CLECT 1246 1377 1.44e-25 SMART
transmembrane domain 1397 1419 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112525
AA Change: Y777H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108144
Gene: ENSMUSG00000054580
AA Change: Y777H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134583
Meta Mutation Damage Score 0.5377 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (72/72)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 A G 3: 96,592,378 (GRCm39) E888G probably damaging Het
Arhgef10 T C 8: 15,004,918 (GRCm39) F150S probably damaging Het
Atp10d G T 5: 72,396,500 (GRCm39) R235L probably benign Het
Cacna1b A G 2: 24,653,055 (GRCm39) V2A possibly damaging Het
Cand1 A T 10: 119,075,102 (GRCm39) L15Q probably benign Het
Cavin3 C A 7: 105,130,350 (GRCm39) G154V probably benign Het
Ccdc73 A T 2: 104,821,830 (GRCm39) D593V probably damaging Het
Cdk5rap2 T C 4: 70,168,647 (GRCm39) K161E probably damaging Het
Chil4 A T 3: 106,111,056 (GRCm39) N279K probably benign Het
Chst13 T G 6: 90,295,245 (GRCm39) D56A probably damaging Het
Cnn1 C A 9: 22,010,664 (GRCm39) H5N probably benign Het
Cpsf4l T A 11: 113,593,319 (GRCm39) K88N probably damaging Het
Ctnnbl1 G T 2: 157,713,113 (GRCm39) probably null Het
Dnah7a A C 1: 53,657,275 (GRCm39) F834V probably damaging Het
Fbxo41 A G 6: 85,461,163 (GRCm39) S182P probably benign Het
Fkbp5 T C 17: 28,634,970 (GRCm39) T180A probably benign Het
Flg2 T A 3: 93,127,334 (GRCm39) I2082N unknown Het
Gm4968 A G 6: 127,210,725 (GRCm39) noncoding transcript Het
Gpc5 T A 14: 116,761,747 (GRCm39) H612Q probably benign Het
Gsg1 A T 6: 135,218,251 (GRCm39) V212D probably damaging Het
Hipk1 A G 3: 103,651,430 (GRCm39) V1111A probably damaging Het
Hormad1 A T 3: 95,483,596 (GRCm39) Q136L probably benign Het
Ifi35 T A 11: 101,348,511 (GRCm39) S147R probably benign Het
Iqca1l A G 5: 24,754,624 (GRCm39) probably null Het
Iqgap3 C T 3: 87,998,089 (GRCm39) A282V probably null Het
Jmy T C 13: 93,590,558 (GRCm39) D515G probably damaging Het
Kctd10 G A 5: 114,512,984 (GRCm39) R64C probably damaging Het
Kidins220 T C 12: 25,040,757 (GRCm39) V121A probably damaging Het
Lcn3 G A 2: 25,656,133 (GRCm39) V63M possibly damaging Het
Lmx1b T A 2: 33,529,543 (GRCm39) Y72F probably benign Het
Lrp1 T C 10: 127,389,424 (GRCm39) D3164G probably damaging Het
Mdh1b C T 1: 63,758,927 (GRCm39) V222M probably damaging Het
Mst1 T C 9: 107,958,702 (GRCm39) probably benign Het
Myo7b C A 18: 32,143,132 (GRCm39) V189F probably damaging Het
Ndc1 T C 4: 107,250,355 (GRCm39) S533P probably damaging Het
Ndrg3 T C 2: 156,785,947 (GRCm39) D164G probably damaging Het
Nol11 C T 11: 107,064,454 (GRCm39) C500Y possibly damaging Het
Nsd3 A G 8: 26,196,642 (GRCm39) N1208D probably benign Het
Nup155 C T 15: 8,186,162 (GRCm39) probably benign Het
Or5ak20 A T 2: 85,183,347 (GRCm39) C308S probably benign Het
Or6c38 A G 10: 128,929,711 (GRCm39) I44T possibly damaging Het
Or8b47 A G 9: 38,435,081 (GRCm39) T18A probably damaging Het
Or8b54 A T 9: 38,687,016 (GRCm39) D155V possibly damaging Het
Phf3 A G 1: 30,844,684 (GRCm39) L1425P probably damaging Het
Pld1 A G 3: 28,085,396 (GRCm39) E184G probably damaging Het
Plxna1 T C 6: 89,314,335 (GRCm39) probably null Het
Ptgfrn T C 3: 100,950,718 (GRCm39) E865G probably damaging Het
Ptpn13 G T 5: 103,737,720 (GRCm39) probably benign Het
Pygb G T 2: 150,670,473 (GRCm39) V763F probably benign Het
Ros1 A C 10: 51,967,091 (GRCm39) Y1705* probably null Het
Sec61a2 A G 2: 5,898,027 (GRCm39) F5L probably benign Het
Skint5 A G 4: 113,614,102 (GRCm39) probably null Het
Sntg2 A G 12: 30,362,566 (GRCm39) V60A probably damaging Het
Sppl2a A G 2: 126,762,242 (GRCm39) C280R possibly damaging Het
Srrm4 A C 5: 116,584,603 (GRCm39) M1R probably null Het
Sult1c2 T C 17: 54,279,043 (GRCm39) E91G probably damaging Het
Themis2 C G 4: 132,512,906 (GRCm39) R440P probably damaging Het
Tmem229a A G 6: 24,955,058 (GRCm39) L232P probably benign Het
Trappc1 T C 11: 69,215,248 (GRCm39) F43L probably damaging Het
Trappc11 A T 8: 47,951,708 (GRCm39) Y982N possibly damaging Het
Trpv6 A T 6: 41,604,339 (GRCm39) M139K probably damaging Het
Txnrd3 A G 6: 89,640,057 (GRCm39) probably null Het
Vmn1r184 T A 7: 25,967,008 (GRCm39) Y251* probably null Het
Vmn1r216 A G 13: 23,283,544 (GRCm39) N76D possibly damaging Het
Vmn1r71 C A 7: 10,481,792 (GRCm39) V233F probably benign Het
Vps13a A C 19: 16,743,857 (GRCm39) probably benign Het
Vwa5b2 A G 16: 20,420,358 (GRCm39) S756G probably damaging Het
Wdr36 T A 18: 32,994,538 (GRCm39) probably null Het
Wdr86 A G 5: 24,923,305 (GRCm39) V129A probably benign Het
Zfyve9 A G 4: 108,576,940 (GRCm39) L47S probably benign 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
R0718:Pla2r1 UTSW 2 60,309,874 (GRCm39) missense possibly damaging 0.55
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
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'- TAGGTTCATCAGGCAGGTTG -3'
(R):5'- CTGAAGATTCCTCTGAAGTCCC -3'

Sequencing Primer
(F):5'- CATCAGGCAGGTTGTTGGCAG -3'
(R):5'- TCTGAAGTCCCTTAAACAGTGGC -3'
Posted On 2015-02-18