Incidental Mutation 'IGL01759:Pla2g4c'
ID153501
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pla2g4c
Ensembl Gene ENSMUSG00000033847
Gene Namephospholipase A2, group IVC (cytosolic, calcium-independent)
SynonymsCPLA2-gamma
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #IGL01759
Quality Score
Status
Chromosome7
Chromosomal Location13324655-13360672 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 13348316 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 486 (Y486N)
Ref Sequence ENSEMBL: ENSMUSP00000043672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043612] [ENSMUST00000108528] [ENSMUST00000167232]
Predicted Effect probably damaging
Transcript: ENSMUST00000043612
AA Change: Y486N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043672
Gene: ENSMUSG00000033847
AA Change: Y486N

DomainStartEndE-ValueType
PLAc 1 534 1.97e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108528
AA Change: Y496N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104168
Gene: ENSMUSG00000033847
AA Change: Y496N

DomainStartEndE-ValueType
PLAc 1 544 1.23e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167232
AA Change: Y496N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127060
Gene: ENSMUSG00000033847
AA Change: Y496N

DomainStartEndE-ValueType
PLAc 1 544 1.23e-8 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a member of the phospholipase A2 enzyme family which hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids, both of which serve as precursors in the production of signaling molecules. The encoded protein has been shown to be a calcium-independent and membrane bound enzyme. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 A T 11: 95,835,799 D150E probably damaging Het
Akr1c14 T A 13: 4,081,139 I277N probably damaging Het
Ap1b1 C T 11: 5,019,433 T263I probably damaging Het
Atp6v0d2 C A 4: 19,878,335 V313L probably damaging Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Car2 G A 3: 14,895,628 probably null Het
Cdh17 T A 4: 11,771,262 probably benign Het
Cep295 A G 9: 15,323,559 probably null Het
Cep97 T C 16: 55,930,573 K27E probably damaging Het
Cops5 A T 1: 10,027,249 N258K probably damaging Het
Dchs1 T A 7: 105,755,302 T2678S probably benign Het
Dnah10 T A 5: 124,755,786 F861Y probably benign Het
Dock10 T C 1: 80,526,273 E1777G probably damaging Het
Dock5 G A 14: 67,881,259 Q23* probably null Het
Ermp1 T C 19: 29,615,836 K752R probably benign Het
Fam160a1 A C 3: 85,688,447 I377S probably damaging Het
Gjd2 T A 2: 114,011,106 I297L probably benign Het
Gm1123 T C 9: 99,023,254 M68V probably benign Het
Gm28372 C T 2: 130,406,898 R59W probably damaging Het
Gm9912 A C 3: 149,185,438 F20V unknown Het
Gpat2 T C 2: 127,430,896 F176S possibly damaging Het
Gpr150 T C 13: 76,055,665 H387R possibly damaging Het
Gpr20 T A 15: 73,696,420 D40V probably damaging Het
Jakmip3 A T 7: 139,020,904 Q331L probably damaging Het
Kif5b A T 18: 6,211,019 probably benign Het
Kif5b A G 18: 6,225,647 V179A probably damaging Het
Krt14 A T 11: 100,204,416 probably benign Het
L3mbtl3 A G 10: 26,331,900 F307S unknown Het
Laptm4a T C 12: 8,934,687 probably benign Het
Marveld3 T C 8: 109,948,087 S366G possibly damaging Het
Mga C A 2: 119,951,195 T2234K possibly damaging Het
Mkrn2os T C 6: 115,592,331 N54S probably benign Het
Mras T C 9: 99,411,495 I31V probably damaging Het
Myh1 A G 11: 67,219,906 D1518G probably damaging Het
Myoz2 A T 3: 123,013,781 Y127N possibly damaging Het
Nhlrc1 C A 13: 47,013,962 W273L probably benign Het
Nol9 C T 4: 152,046,043 probably benign Het
Nrxn2 T C 19: 6,509,929 V1206A probably damaging Het
Olfr180 A T 16: 58,915,928 F238I probably damaging Het
Olfr523 T C 7: 140,176,534 I138T probably benign Het
Olfr694 T C 7: 106,689,333 T133A probably benign Het
Olfr774 T A 10: 129,239,072 F308I probably benign Het
Olfr971 T A 9: 39,839,611 M59K probably damaging Het
Pappa T C 4: 65,205,158 probably null Het
Pfkl A G 10: 78,000,731 S151P probably damaging Het
Pgbd5 C T 8: 124,384,379 G191D probably damaging Het
Pikfyve T C 1: 65,253,353 V1276A probably benign Het
Rasal2 C A 1: 157,175,932 V386L probably benign Het
S1pr3 G A 13: 51,419,512 R243Q probably damaging Het
Slc44a4 A G 17: 34,921,243 D208G probably benign Het
Slc6a4 T C 11: 77,013,288 S190P probably damaging Het
Snapc5 A T 9: 64,180,497 probably null Het
Tbc1d14 C A 5: 36,571,569 R151L probably damaging Het
Tecpr2 T A 12: 110,931,392 probably benign Het
Tmem219 G A 7: 126,897,138 P44L probably damaging Het
Ube2e1 T C 14: 18,330,951 R51G probably null Het
Ugp2 T C 11: 21,353,447 K53E probably benign Het
Vmn1r214 T C 13: 23,034,492 I52T probably benign Het
Vmn2r124 C T 17: 18,064,068 T457I probably benign Het
Vps13b A G 15: 35,878,789 E2978G probably damaging Het
Zfr A G 15: 12,159,655 D679G probably damaging Het
Zhx3 T C 2: 160,780,714 N511S probably damaging Het
Other mutations in Pla2g4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Pla2g4c APN 7 13344026 missense probably benign 0.01
IGL00972:Pla2g4c APN 7 13340658 missense probably benign 0.13
IGL02567:Pla2g4c APN 7 13346040 missense probably damaging 1.00
IGL02629:Pla2g4c APN 7 13335377 nonsense probably null
IGL02719:Pla2g4c APN 7 13330094 missense probably damaging 1.00
IGL02812:Pla2g4c APN 7 13348365 missense probably damaging 1.00
PIT4142001:Pla2g4c UTSW 7 13343391 missense probably benign
R0184:Pla2g4c UTSW 7 13356220 missense probably benign 0.16
R1052:Pla2g4c UTSW 7 13343409 missense possibly damaging 0.95
R1747:Pla2g4c UTSW 7 13337730 splice site probably benign
R4381:Pla2g4c UTSW 7 13346065 missense probably damaging 1.00
R4486:Pla2g4c UTSW 7 13337751 missense probably benign 0.09
R4674:Pla2g4c UTSW 7 13343514 missense probably null 0.24
R4811:Pla2g4c UTSW 7 13337813 missense probably damaging 1.00
R5655:Pla2g4c UTSW 7 13329964 splice site probably null
R5791:Pla2g4c UTSW 7 13339692 missense probably benign 0.32
R5814:Pla2g4c UTSW 7 13340618 missense probably damaging 1.00
R6381:Pla2g4c UTSW 7 13344008 missense probably benign 0.05
R6395:Pla2g4c UTSW 7 13344008 missense probably benign 0.05
R6974:Pla2g4c UTSW 7 13344534 critical splice donor site probably null
R7257:Pla2g4c UTSW 7 13325744 missense possibly damaging 0.46
R7823:Pla2g4c UTSW 7 13330019 missense probably damaging 1.00
Z1088:Pla2g4c UTSW 7 13329753 missense probably benign 0.13
Z1177:Pla2g4c UTSW 7 13348327 missense not run
Posted On2014-02-04