Incidental Mutation 'IGL02526:Pla2g12b'
ID297107
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pla2g12b
Ensembl Gene ENSMUSG00000009646
Gene Namephospholipase A2, group XIIB
Synonyms2010002E04Rik, hlb218, Pla2g13
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.791) question?
Stock #IGL02526
Quality Score
Status
Chromosome10
Chromosomal Location59403660-59421976 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 59416453 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 49 (C49S)
Ref Sequence ENSEMBL: ENSMUSP00000123842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009790] [ENSMUST00000162643]
Predicted Effect probably damaging
Transcript: ENSMUST00000009790
AA Change: C136S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000009790
Gene: ENSMUSG00000009646
AA Change: C136S

DomainStartEndE-ValueType
Pfam:PLA2G12 12 195 1.5e-89 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162643
AA Change: C49S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123842
Gene: ENSMUSG00000009646
AA Change: C49S

DomainStartEndE-ValueType
Pfam:PLA2G12 1 77 1.7e-36 PFAM
low complexity region 90 101 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the phospholipase A2 (PLA2) group of enzymes, which function in glycolipid hydrolysis with the release of free fatty acids and lysophospholipids. This family member has altered phospholipid-binding properties and is catalytically inactive. The protein is secreted, and together with microsomal triglyceride transfer protein, it functions to regulate HNF4alpha-induced hepatitis C virus infectivity. The expression of this gene is down-regulated in various tumors, suggesting that it may function as a negative regulator of tumor progression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit a reduction in serum total and HDL cholesterol levels, decreased serum triglyceride levels, and hepatic steatosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A G 5: 121,646,860 V231A probably damaging Het
Aff4 T C 11: 53,406,682 probably benign Het
Ano2 G A 6: 125,872,751 probably null Het
Aspm A G 1: 139,489,719 E2818G probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Caprin1 T C 2: 103,775,603 probably benign Het
Clca2 T C 3: 145,088,018 H292R probably benign Het
Dnah11 G A 12: 118,179,618 T430M possibly damaging Het
Fgd6 A G 10: 94,100,511 N902S probably benign Het
Grm3 A G 5: 9,589,847 I66T probably damaging Het
H13 T A 2: 152,688,682 F158L probably damaging Het
Kcnb2 A G 1: 15,710,755 E617G probably damaging Het
Kcnh7 T C 2: 62,850,437 S269G possibly damaging Het
Krit1 T A 5: 3,822,103 I376N probably damaging Het
Lonrf2 T A 1: 38,800,710 M435L probably benign Het
Map2 A T 1: 66,380,717 D69V possibly damaging Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Myh3 C T 11: 67,087,545 P453S probably benign Het
Olfr557 T A 7: 102,699,084 V282D possibly damaging Het
Pi4k2b T C 5: 52,767,739 F442L probably damaging Het
Polr2a C T 11: 69,739,467 R1258Q probably benign Het
Prmt8 A C 6: 127,711,823 S195A probably damaging Het
Pwp1 T A 10: 85,882,103 probably null Het
Rxfp1 C A 3: 79,670,846 probably null Het
Skor1 A T 9: 63,145,877 M270K probably damaging Het
Slc12a4 T C 8: 105,949,806 N495D possibly damaging Het
Slc26a3 T C 12: 31,457,096 V350A probably damaging Het
Slc44a4 T A 17: 34,928,487 V430D probably damaging Het
Slit2 C A 5: 48,304,223 C1537* probably null Het
Tas2r135 A T 6: 42,406,280 H251L probably damaging Het
Tbr1 T C 2: 61,811,698 F436L probably benign Het
Them6 A T 15: 74,721,655 T121S possibly damaging Het
Tmem145 G A 7: 25,308,232 M221I probably benign Het
Trrap T C 5: 144,824,550 V2300A probably benign Het
Usf3 C A 16: 44,220,311 A1718D possibly damaging Het
Usp10 C A 8: 119,948,775 S511Y probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wnt9a T C 11: 59,328,505 F119S probably damaging Het
Zc3h7b G A 15: 81,793,137 G880S probably benign Het
Other mutations in Pla2g12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Pla2g12b APN 10 59416417 missense probably benign 0.28
IGL02551:Pla2g12b APN 10 59403870 missense probably damaging 1.00
florissant UTSW 10 59421441 unclassified probably benign
R0800:Pla2g12b UTSW 10 59403820 missense probably benign 0.00
R0918:Pla2g12b UTSW 10 59421484 missense probably damaging 0.98
R1412:Pla2g12b UTSW 10 59403982 critical splice donor site probably null
R1602:Pla2g12b UTSW 10 59421553 unclassified probably null
R3765:Pla2g12b UTSW 10 59421501 missense probably damaging 1.00
R4822:Pla2g12b UTSW 10 59416514 critical splice donor site probably null
R5963:Pla2g12b UTSW 10 59403958 missense probably damaging 1.00
R6140:Pla2g12b UTSW 10 59421441 unclassified probably benign
R7897:Pla2g12b UTSW 10 59410994 nonsense probably null
R7972:Pla2g12b UTSW 10 59421240 intron probably null
R7980:Pla2g12b UTSW 10 59410994 nonsense probably null
Posted On2015-04-16