Incidental Mutation 'IGL02526:Pla2g12b'
ID 297107
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pla2g12b
Ensembl Gene ENSMUSG00000009646
Gene Name phospholipase A2, group XIIB
Synonyms Pla2g13, 2010002E04Rik, hlb218
Accession Numbers
Essential gene? Probably essential (E-score: 0.766) question?
Stock # IGL02526
Quality Score
Status
Chromosome 10
Chromosomal Location 59239482-59257798 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59252275 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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: 121,784,923 (GRCm39) V231A probably damaging Het
Aff4 T C 11: 53,297,509 (GRCm39) probably benign Het
Ano2 G A 6: 125,849,714 (GRCm39) probably null Het
Aspm A G 1: 139,417,457 (GRCm39) E2818G probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Caprin1 T C 2: 103,605,948 (GRCm39) probably benign Het
Clca3a2 T C 3: 144,793,779 (GRCm39) H292R probably benign Het
Dnah11 G A 12: 118,143,353 (GRCm39) T430M possibly damaging Het
Fgd6 A G 10: 93,936,373 (GRCm39) N902S probably benign Het
Grm3 A G 5: 9,639,847 (GRCm39) I66T probably damaging Het
H13 T A 2: 152,530,602 (GRCm39) F158L probably damaging Het
Kcnb2 A G 1: 15,780,979 (GRCm39) E617G probably damaging Het
Kcnh7 T C 2: 62,680,781 (GRCm39) S269G possibly damaging Het
Krit1 T A 5: 3,872,103 (GRCm39) I376N probably damaging Het
Lonrf2 T A 1: 38,839,791 (GRCm39) M435L probably benign Het
Map2 A T 1: 66,419,876 (GRCm39) D69V possibly damaging Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Myh3 C T 11: 66,978,371 (GRCm39) P453S probably benign Het
Or51d1 T A 7: 102,348,291 (GRCm39) V282D possibly damaging Het
Pi4k2b T C 5: 52,925,081 (GRCm39) F442L probably damaging Het
Polr2a C T 11: 69,630,293 (GRCm39) R1258Q probably benign Het
Prmt8 A C 6: 127,688,786 (GRCm39) S195A probably damaging Het
Pwp1 T A 10: 85,717,967 (GRCm39) probably null Het
Rxfp1 C A 3: 79,578,153 (GRCm39) probably null Het
Skor1 A T 9: 63,053,159 (GRCm39) M270K probably damaging Het
Slc12a4 T C 8: 106,676,438 (GRCm39) N495D possibly damaging Het
Slc26a3 T C 12: 31,507,095 (GRCm39) V350A probably damaging Het
Slc44a4 T A 17: 35,147,463 (GRCm39) V430D probably damaging Het
Slit2 C A 5: 48,461,565 (GRCm39) C1537* probably null Het
Tas2r135 A T 6: 42,383,214 (GRCm39) H251L probably damaging Het
Tbr1 T C 2: 61,642,042 (GRCm39) F436L probably benign Het
Them6 A T 15: 74,593,504 (GRCm39) T121S possibly damaging Het
Tmem145 G A 7: 25,007,657 (GRCm39) M221I probably benign Het
Trrap T C 5: 144,761,360 (GRCm39) V2300A probably benign Het
Usf3 C A 16: 44,040,674 (GRCm39) A1718D possibly damaging Het
Usp10 C A 8: 120,675,514 (GRCm39) S511Y probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wnt9a T C 11: 59,219,331 (GRCm39) F119S probably damaging Het
Zc3h7b G A 15: 81,677,338 (GRCm39) G880S probably benign Het
Other mutations in Pla2g12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Pla2g12b APN 10 59,252,239 (GRCm39) missense probably benign 0.28
IGL02551:Pla2g12b APN 10 59,239,692 (GRCm39) missense probably damaging 1.00
florissant UTSW 10 59,257,263 (GRCm39) unclassified probably benign
R0800:Pla2g12b UTSW 10 59,239,642 (GRCm39) missense probably benign 0.00
R0918:Pla2g12b UTSW 10 59,257,306 (GRCm39) missense probably damaging 0.98
R1412:Pla2g12b UTSW 10 59,239,804 (GRCm39) critical splice donor site probably null
R1602:Pla2g12b UTSW 10 59,257,375 (GRCm39) splice site probably null
R3765:Pla2g12b UTSW 10 59,257,323 (GRCm39) missense probably damaging 1.00
R4822:Pla2g12b UTSW 10 59,252,336 (GRCm39) critical splice donor site probably null
R5963:Pla2g12b UTSW 10 59,239,780 (GRCm39) missense probably damaging 1.00
R6140:Pla2g12b UTSW 10 59,257,263 (GRCm39) unclassified probably benign
R7889:Pla2g12b UTSW 10 59,257,062 (GRCm39) splice site probably null
R7897:Pla2g12b UTSW 10 59,246,816 (GRCm39) nonsense probably null
R8075:Pla2g12b UTSW 10 59,257,274 (GRCm39) missense unknown
Posted On 2015-04-16