Incidental Mutation 'R0105:Pla2r1'
ID 17864
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 038391-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0105 (G1)
Quality Score
Status Validated
Chromosome 2
Chromosomal Location 60247887-60383652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60345325 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 344 (R344G)
Ref Sequence ENSEMBL: ENSMUSP00000108144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112525]
AlphaFold Q62028
Predicted Effect possibly damaging
Transcript: ENSMUST00000112525
AA Change: R344G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108144
Gene: ENSMUSG00000054580
AA Change: R344G

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 0.0964 question?
Coding Region Coverage
  • 1x: 85.3%
  • 3x: 77.7%
  • 10x: 47.9%
  • 20x: 15.1%
Validation Efficiency 96% (53/55)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530053G22Rik T C 6: 60,379,137 (GRCm39) noncoding transcript Het
Adcy9 A G 16: 4,106,252 (GRCm39) V954A probably damaging Het
Aldh8a1 T A 10: 21,271,438 (GRCm39) M388K probably damaging Het
Cdsn A C 17: 35,867,035 (GRCm39) R521S possibly damaging Het
Cog3 A G 14: 75,959,580 (GRCm39) S591P probably damaging Het
Cplane1 T A 15: 8,216,876 (GRCm39) V698D probably benign Het
Crmp1 T A 5: 37,441,479 (GRCm39) D520E probably damaging Het
Ddhd1 T C 14: 45,848,147 (GRCm39) D507G probably benign Het
Dnah6 C T 6: 73,132,262 (GRCm39) A1147T probably damaging Het
Dsg2 T C 18: 20,735,111 (GRCm39) S1030P probably benign Het
Fam20b T C 1: 156,518,140 (GRCm39) E218G probably damaging Het
Gab2 T C 7: 96,948,279 (GRCm39) Y290H probably damaging Het
Gm973 A G 1: 59,621,633 (GRCm39) Q591R probably null Het
Gsdmc2 T C 15: 63,700,026 (GRCm39) T249A probably benign Het
Il15ra T A 2: 11,735,459 (GRCm39) probably null Het
Isy1 G A 6: 87,796,167 (GRCm39) R257W probably damaging Het
Krt76 T C 15: 101,793,347 (GRCm39) T564A unknown Het
Lrrk1 G T 7: 65,942,089 (GRCm39) D716E probably damaging Het
Mogat1 A G 1: 78,500,307 (GRCm39) T124A probably benign Het
Mroh7 T C 4: 106,568,467 (GRCm39) T48A possibly damaging Het
Or4a71 T C 2: 89,358,707 (GRCm39) T16A probably benign Het
Pkhd1 G A 1: 20,593,956 (GRCm39) Q1386* probably null Het
Plekhg4 G A 8: 106,108,644 (GRCm39) V1202M possibly damaging Het
Ppil4 A G 10: 7,674,210 (GRCm39) Y118C probably damaging Het
Ptpn4 C T 1: 119,615,335 (GRCm39) probably null Het
Reln G A 5: 22,253,813 (GRCm39) R600W probably damaging Het
Sumf2 T A 5: 129,878,735 (GRCm39) probably benign Het
Tex10 C A 4: 48,468,957 (GRCm39) V73F probably damaging Het
Tgm5 C A 2: 120,907,493 (GRCm39) G77W probably damaging Het
Tnfrsf21 T A 17: 43,351,082 (GRCm39) probably null Het
Treml2 C T 17: 48,609,856 (GRCm39) T96I probably damaging Het
Zcchc17 T A 4: 130,243,099 (GRCm39) D28V probably benign Het
Zkscan6 T A 11: 65,712,811 (GRCm39) L248Q probably 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
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
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
Posted On 2013-03-25