Incidental Mutation 'IGL01660:Pla2g10'
ID103142
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pla2g10
Ensembl Gene ENSMUSG00000022683
Gene Namephospholipase A2, group X
SynonymsPLA2GX, mGXsPLA2, GX sPLA2
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01660
Quality Score
Status
Chromosome16
Chromosomal Location13715057-13730983 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 13728086 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 28 (R28H)
Ref Sequence ENSEMBL: ENSMUSP00000023364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023364] [ENSMUST00000115807]
Predicted Effect probably damaging
Transcript: ENSMUST00000023364
AA Change: R28H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023364
Gene: ENSMUSG00000022683
AA Change: R28H

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
PA2c 29 144 1.68e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115807
AA Change: R28H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111474
Gene: ENSMUSG00000022683
AA Change: R28H

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
PA2c 29 143 2.48e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141172
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156504
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the phospholipase A2 family of lipolytic enzymes that hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids. The encoded protein undergoes proteolytic processing to generate a calcium-dependent enzyme that plays pivotal roles in the liberation of arachidonic acid from membrane phospholipids leading to the production of various inflammatory lipid mediators, such as prostaglandins. In response to myocardial ischemia/reperfusion, mice lacking the encoded protein display a reduction in myocardial infarct size partly through the suppression of neutorphil cytotoxic activities. Alternative splicing results in multiple transcript variants encoding different isoforms. All of these isoforms may undergo similar processing to generate the mature protein. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased lung inflammatory response and TH2 cytokine production in response to chronic ovalbumin exposure and acute asthma models. Mice homozygous for a knock-out allele exhibit decreased injury following myocardial ischemia and reperfusion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik A T 19: 45,940,476 L393H probably damaging Het
Acta2 A G 19: 34,251,791 I66T probably damaging Het
Actl11 T C 9: 107,929,048 V190A probably benign Het
Ankub1 T A 3: 57,690,396 Y51F possibly damaging Het
Ccdc63 G A 5: 122,110,964 S434L possibly damaging Het
Cdan1 T A 2: 120,725,653 I711F possibly damaging Het
Cep170b C A 12: 112,744,160 N1474K probably damaging Het
Cyp2c40 A G 19: 39,786,810 S333P probably damaging Het
Dars A G 1: 128,415,344 probably benign Het
Dock3 T A 9: 107,032,364 probably benign Het
Dsp A G 13: 38,176,495 I359V possibly damaging Het
Fut8 T G 12: 77,450,258 L414* probably null Het
Gja1 A G 10: 56,388,448 Y301C probably damaging Het
Glipr1l1 T C 10: 112,072,279 S161P probably damaging Het
Gpat4 A T 8: 23,175,338 probably null Het
Grhl1 T A 12: 24,608,578 probably null Het
Hectd3 T C 4: 116,996,372 V181A possibly damaging Het
Htr2a T A 14: 74,705,754 I258N probably damaging Het
Hyou1 T A 9: 44,381,117 D83E possibly damaging Het
Myh10 T A 11: 68,785,889 L862Q probably benign Het
Nkx2-2 T C 2: 147,185,913 S36G probably benign Het
Nsun2 T A 13: 69,623,249 V326E probably benign Het
Nuak2 T C 1: 132,331,570 V362A probably benign Het
Nyap2 G A 1: 81,191,927 C133Y probably damaging Het
Oas2 T C 5: 120,741,223 T351A probably benign Het
Olfr1025-ps1 T C 2: 85,918,564 I213T probably benign Het
Olfr279 C T 15: 98,498,195 T241I probably damaging Het
Pde4d A T 13: 109,938,072 I404F probably damaging Het
Pga5 A G 19: 10,675,092 S95P probably damaging Het
Pitpnm2 A T 5: 124,123,194 D947E probably damaging Het
Prlr A G 15: 10,317,590 D84G probably damaging Het
Rbm15b C T 9: 106,885,709 G420D probably damaging Het
Tbcd A G 11: 121,605,327 T1063A probably benign Het
Tmc2 C T 2: 130,260,224 Q770* probably null Het
Tpo T C 12: 30,119,400 probably benign Het
Vim A G 2: 13,574,813 N128D probably damaging Het
Vmn1r21 A T 6: 57,844,237 I74N probably damaging Het
Vmn2r52 A C 7: 10,159,180 I677M probably damaging Het
Other mutations in Pla2g10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03355:Pla2g10 APN 16 13730420 splice site probably null
R0076:Pla2g10 UTSW 16 13715518 missense possibly damaging 0.66
R8002:Pla2g10 UTSW 16 13725048 missense unknown
R8155:Pla2g10 UTSW 16 13725184 missense probably damaging 0.99
Posted On2014-01-21