Incidental Mutation 'IGL00953:Pla2g4c'
ID27871
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: 0.094) question?
Stock #IGL00953
Quality Score
Status
Chromosome7
Chromosomal Location13324655-13360672 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 13344026 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 363 (M363K)
Ref Sequence ENSEMBL: ENSMUSP00000043672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043612] [ENSMUST00000108528] [ENSMUST00000167232]
Predicted Effect probably benign
Transcript: ENSMUST00000043612
AA Change: M363K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000043672
Gene: ENSMUSG00000033847
AA Change: M363K

DomainStartEndE-ValueType
PLAc 1 534 1.97e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108528
AA Change: M373K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104168
Gene: ENSMUSG00000033847
AA Change: M373K

DomainStartEndE-ValueType
PLAc 1 544 1.23e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157290
Predicted Effect probably benign
Transcript: ENSMUST00000167232
AA Change: M373K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000127060
Gene: ENSMUSG00000033847
AA Change: M373K

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 120,011,221 E726G probably benign Het
Cdyl2 T A 8: 116,595,189 probably benign Het
Cep41 T C 6: 30,660,967 T109A probably benign Het
Clca3b C T 3: 144,847,211 W84* probably null Het
Cyp27b1 A G 10: 127,049,682 D130G probably benign Het
Cyp2f2 T C 7: 27,129,817 V249A possibly damaging Het
Cyth3 G A 5: 143,707,165 probably null Het
Dnah8 G T 17: 30,706,457 E1289* probably null Het
Fam171a1 A T 2: 3,178,290 D51V possibly damaging Het
Farp2 A G 1: 93,561,174 R107G possibly damaging Het
Gemin6 T C 17: 80,227,865 F85L possibly damaging Het
Hivep3 A C 4: 120,098,374 T1296P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Htt T A 5: 34,818,677 S670T probably benign Het
Klhl24 A T 16: 20,122,967 N555I possibly damaging Het
Limd1 T A 9: 123,479,883 S216T probably benign Het
Lmf2 A T 15: 89,353,899 I234N probably damaging Het
Mrpl4 C A 9: 21,008,567 D271E probably benign Het
Mydgf C T 17: 56,179,407 G75R probably damaging Het
Nat1 A G 8: 67,490,978 D5G possibly damaging Het
Olfr178 A C 16: 58,889,685 H178Q probably damaging Het
Olfr190 A T 16: 59,074,689 Y130* probably null Het
Olfr325 T C 11: 58,581,810 V322A probably benign Het
Prex1 A G 2: 166,638,409 F137S probably damaging Het
Rbm12b1 A G 4: 12,146,038 D670G probably damaging Het
Rrp12 C A 19: 41,871,792 M997I possibly damaging Het
Scn3a A G 2: 65,497,392 V918A probably benign Het
Slc35g2 A G 9: 100,552,463 V385A probably damaging Het
Slit1 A T 19: 41,602,300 I1311N probably damaging Het
Ube2j2 C T 4: 155,946,377 probably benign Het
Ucp2 A G 7: 100,498,422 T203A probably benign Het
Upk1b C T 16: 38,779,985 G211D possibly damaging Het
Vmn1r220 A T 13: 23,183,765 F254I probably benign Het
Zcchc4 T C 5: 52,808,296 F314S probably damaging Het
Other mutations in Pla2g4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Pla2g4c APN 7 13340658 missense probably benign 0.13
IGL01759:Pla2g4c APN 7 13348316 missense probably damaging 1.00
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
R8385:Pla2g4c UTSW 7 13329664 missense probably benign 0.00
R8737:Pla2g4c UTSW 7 13335229 missense probably benign 0.15
R8933:Pla2g4c UTSW 7 13339702 missense probably benign 0.25
Z1088:Pla2g4c UTSW 7 13329753 missense probably benign 0.13
Z1177:Pla2g4c UTSW 7 13348327 missense possibly damaging 0.91
Posted On2013-04-17