Incidental Mutation 'R5116:Pla2r1'
ID 394176
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 042704-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5116 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 60247887-60383652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 60279250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 777 (Y777D)
Ref Sequence ENSEMBL: ENSMUSP00000108144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112525]
AlphaFold Q62028
Predicted Effect probably damaging
Transcript: ENSMUST00000067708
AA Change: Y777D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065205
Gene: ENSMUSG00000054580
AA Change: Y777D

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: Y777D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108144
Gene: ENSMUSG00000054580
AA Change: Y777D

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 0.6492 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.5%
Validation Efficiency 97% (59/61)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,216,930 (GRCm39) H429R probably damaging Het
Adam39 G T 8: 41,278,038 (GRCm39) C143F probably damaging Het
Adamts19 T C 18: 59,036,066 (GRCm39) V417A possibly damaging Het
Adcy10 C A 1: 165,347,069 (GRCm39) A362E probably damaging Het
Akap6 A G 12: 53,188,298 (GRCm39) E1904G probably benign Het
Aldh18a1 A G 19: 40,541,949 (GRCm39) M89T probably benign Het
Alyref G T 11: 120,488,554 (GRCm39) F91L probably benign Het
Capn3 G T 2: 120,315,773 (GRCm39) M248I probably benign Het
Catsper4 A T 4: 133,953,991 (GRCm39) I56N probably damaging Het
Cckbr T A 7: 105,082,862 (GRCm39) I75N probably damaging Het
Ccr8 T C 9: 119,923,095 (GRCm39) I70T probably benign Het
Cdh24 T C 14: 54,873,870 (GRCm39) D428G probably benign Het
Cdk5rap2 G T 4: 70,225,475 (GRCm39) Q557K possibly damaging Het
Clip1 C T 5: 123,768,770 (GRCm39) A610T probably benign Het
Dnajc16 A T 4: 141,495,280 (GRCm39) Y479* probably null Het
Fpr-rs3 A G 17: 20,844,562 (GRCm39) V193A probably benign Het
Gm29125 T C 1: 80,361,690 (GRCm39) noncoding transcript Het
H1f4 A G 13: 23,806,270 (GRCm39) Y71H probably damaging Het
Ifi208 A G 1: 173,505,549 (GRCm39) probably benign Het
Immp1l G A 2: 105,795,640 (GRCm39) R155H probably benign Het
Itgad C A 7: 127,803,065 (GRCm39) T7K probably damaging Het
Itgb3 T C 11: 104,531,903 (GRCm39) V370A probably benign Het
Jak1 A G 4: 101,012,310 (GRCm39) I1053T probably benign Het
Kif21b A G 1: 136,080,521 (GRCm39) R572G probably damaging Het
Lama2 A T 10: 26,994,556 (GRCm39) D1784E probably benign Het
Ltbp2 A T 12: 84,856,511 (GRCm39) V651D probably damaging Het
Mrpl47 A G 3: 32,787,750 (GRCm39) L100S probably damaging Het
Mx1 T G 16: 97,258,679 (GRCm39) N6T possibly damaging Het
Nde1 T A 16: 14,001,351 (GRCm39) M133K probably benign Het
Nlrc5 T C 8: 95,208,488 (GRCm39) L778P probably damaging Het
Odad3 A G 9: 21,901,424 (GRCm39) *595Q probably null Het
Or52e19b G A 7: 103,033,071 (GRCm39) T46I probably benign Het
Or5l13 G A 2: 87,779,873 (GRCm39) R235C probably benign Het
Or6c3b A G 10: 129,527,266 (GRCm39) S215P probably damaging Het
Or7g32 A G 9: 19,389,094 (GRCm39) S151P possibly damaging Het
Or8b38 T C 9: 37,972,634 (GRCm39) V6A probably benign Het
Otog T C 7: 45,923,191 (GRCm39) V1022A probably benign Het
Pcdhac1 G A 18: 37,224,500 (GRCm39) V438M probably damaging Het
Pcsk5 G A 19: 17,440,798 (GRCm39) S1264F possibly damaging Het
Pfas T C 11: 68,881,816 (GRCm39) probably benign Het
Pigr T A 1: 130,776,768 (GRCm39) F648I probably benign Het
Pnpla7 G T 2: 24,911,982 (GRCm39) G716V probably damaging Het
Rab11fip5 C T 6: 85,325,789 (GRCm39) E206K probably damaging Het
S100a10 A G 3: 93,468,247 (GRCm39) probably null Het
Slc35f1 T C 10: 52,897,991 (GRCm39) I134T probably benign Het
Smarcd1 C T 15: 99,600,369 (GRCm39) A56V probably benign Het
Snrk A G 9: 121,989,396 (GRCm39) T247A probably benign Het
Srgap1 A G 10: 121,628,284 (GRCm39) L896P possibly damaging Het
Tmem19 A T 10: 115,179,651 (GRCm39) F167I probably benign Het
Tmprss11f T C 5: 86,687,555 (GRCm39) S118G probably benign Het
Tnc A G 4: 63,885,452 (GRCm39) probably null Het
Trem3 T C 17: 48,556,580 (GRCm39) L17P probably benign Het
Upp2 A G 2: 58,661,554 (GRCm39) Y67C probably damaging Het
Zfp276 A G 8: 123,991,716 (GRCm39) probably benign Het
Zfp932 T A 5: 110,157,242 (GRCm39) D280E 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
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
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'- ATCAGGCAGGTTGTTGGCAG -3'
(R):5'- CTGAAGATTCCTCTGAAGTCCC -3'

Sequencing Primer
(F):5'- CAGTGTGGCTCAGGGCTCTAG -3'
(R):5'- TCTGAAGTCCCTTAAACAGTGGC -3'
Posted On 2016-06-15