Incidental Mutation 'R1397:Pla2r1'
ID 160174
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 039459-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1397 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 60247887-60383652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 60365106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 155 (T155S)
Ref Sequence ENSEMBL: ENSMUSP00000108144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112525]
AlphaFold Q62028
Predicted Effect probably benign
Transcript: ENSMUST00000112525
AA Change: T155S

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000108144
Gene: ENSMUSG00000054580
AA Change: T155S

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: ENSMUST00000150373
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.0%
Validation Efficiency 98% (59/60)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,504,733 (GRCm39) E1222G probably benign Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Ankmy2 T C 12: 36,220,440 (GRCm39) probably benign Het
Arhgef10l C T 4: 140,271,754 (GRCm39) G827D probably damaging Het
Chrac1 A G 15: 72,962,293 (GRCm39) D3G possibly damaging Het
Dmrtb1 G C 4: 107,534,236 (GRCm39) P349R probably damaging Het
Drd1 A G 13: 54,207,573 (GRCm39) Y207H probably damaging Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Epb41l3 T A 17: 69,569,343 (GRCm39) probably null Het
Fam13b C T 18: 34,578,636 (GRCm39) M705I probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Iqgap2 A G 13: 95,768,673 (GRCm39) I1409T probably benign Het
Itih1 C T 14: 30,651,862 (GRCm39) probably benign Het
Itih5 A T 2: 10,245,618 (GRCm39) D569V probably benign Het
Krt9 A T 11: 100,083,464 (GRCm39) L189Q probably damaging Het
Mfsd11 T C 11: 116,764,123 (GRCm39) F368S probably damaging Het
Neb C A 2: 52,133,955 (GRCm39) V3343F probably damaging Het
Nfe2l3 T C 6: 51,410,274 (GRCm39) S130P probably benign Het
Nid1 G A 13: 13,683,380 (GRCm39) A1153T possibly damaging Het
Nr2c2 T C 6: 92,126,745 (GRCm39) I78T probably benign Het
Nrp1 T G 8: 129,145,197 (GRCm39) Y84* probably null Het
Pate2 T A 9: 35,580,991 (GRCm39) F2I probably damaging Het
Pign A G 1: 105,585,496 (GRCm39) S18P probably damaging Het
Rabl3 C T 16: 37,360,336 (GRCm39) probably benign Het
Rhbg C T 3: 88,155,753 (GRCm39) V66I probably benign Het
Rimkla C T 4: 119,325,308 (GRCm39) G367E probably benign Het
Rnpepl1 C A 1: 92,844,881 (GRCm39) T391N probably damaging Het
Rnps1 C T 17: 24,631,031 (GRCm39) probably benign Het
Rrs1 G A 1: 9,615,992 (GRCm39) E82K probably damaging Het
Slc25a48 A C 13: 56,612,864 (GRCm39) D254A probably damaging Het
Slc28a2 T A 2: 122,291,012 (GRCm39) C659* probably null Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Spata31d1a C T 13: 59,852,853 (GRCm39) probably benign Het
Srrm1 A C 4: 135,048,742 (GRCm39) probably benign Het
Srrt A G 5: 137,298,523 (GRCm39) V247A possibly damaging Het
Tnks2 T C 19: 36,857,901 (GRCm39) probably benign Het
Trim33 A G 3: 103,217,750 (GRCm39) probably benign Het
Trim42 T A 9: 97,247,674 (GRCm39) I341F probably damaging Het
Trim55 T C 3: 19,698,801 (GRCm39) F10S probably benign Het
Trpm1 T C 7: 63,867,406 (GRCm39) W369R probably damaging Het
Vps13d C T 4: 144,867,904 (GRCm39) R1976H 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
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
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'- AGTCTCAACATGACAACAAGCTCAGTG -3'
(R):5'- GGTTTCCGACGACCACCTCTTTAATG -3'

Sequencing Primer
(F):5'- CAAGCTCAGTGtgttccttttac -3'
(R):5'- CACCTCTTTAATGTGGGAGGC -3'
Posted On 2014-03-14