Incidental Mutation 'R1412:Pla2g12b'
ID 244135
Institutional Source Beutler Lab
Gene Symbol Pla2g12b
Ensembl Gene ENSMUSG00000009646
Gene Name phospholipase A2, group XIIB
Synonyms Pla2g13, 2010002E04Rik, hlb218
MMRRC Submission 039468-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.766) question?
Stock # R1412 (G1)
Quality Score 32
Status Validated
Chromosome 10
Chromosomal Location 59239482-59257798 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 59239804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000009790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009790]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000009790
SMART Domains Protein: ENSMUSP00000009790
Gene: ENSMUSG00000009646

DomainStartEndE-ValueType
Pfam:PLA2G12 12 195 1.5e-89 PFAM
Meta Mutation Damage Score 0.9485 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.5%
Validation Efficiency 98% (48/49)
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
1810009A15Rik T C 19: 8,867,359 (GRCm39) probably benign Het
Abca15 C T 7: 119,944,546 (GRCm39) R394C possibly damaging Het
Adamts9 T C 6: 92,773,414 (GRCm39) Q1152R probably benign Het
Adgrv1 C T 13: 81,243,569 (GRCm39) G6277E probably damaging Het
Agbl2 A G 2: 90,619,298 (GRCm39) N41S probably benign Het
Akap7 A T 10: 25,165,495 (GRCm39) probably null Het
Arl6ip1 A G 7: 117,719,591 (GRCm39) I179T possibly damaging Het
Atp1a4 C T 1: 172,059,576 (GRCm39) D839N probably damaging Het
B3galt4 G A 17: 34,169,813 (GRCm39) R142C probably damaging Het
C1qtnf12 T C 4: 156,047,190 (GRCm39) V52A probably benign Het
C1qtnf2 A G 11: 43,381,959 (GRCm39) Y257C probably damaging Het
Cdc123 A T 2: 5,808,776 (GRCm39) D233E possibly damaging Het
Chdh G A 14: 29,756,680 (GRCm39) E369K probably benign Het
D630045J12Rik A G 6: 38,172,695 (GRCm39) V491A probably benign Het
Focad T C 4: 88,196,498 (GRCm39) probably null Het
Gabbr1 T C 17: 37,365,805 (GRCm39) probably null Het
Hat1 G T 2: 71,250,961 (GRCm39) E170* probably null Het
Hs3st5 A T 10: 36,708,672 (GRCm39) H69L probably benign Het
Igsf10 T C 3: 59,235,196 (GRCm39) probably benign Het
Itga2b A T 11: 102,347,831 (GRCm39) L890Q probably benign Het
Or52e8b A G 7: 104,673,402 (GRCm39) F262L probably damaging Het
Or7d11 C G 9: 19,966,711 (GRCm39) G16A possibly damaging Het
Parp10 A G 15: 76,127,284 (GRCm39) L51P probably damaging Het
Pbld2 A G 10: 62,883,301 (GRCm39) T108A probably damaging Het
Pdlim2 A T 14: 70,411,773 (GRCm39) probably benign Het
Pikfyve T C 1: 65,241,989 (GRCm39) V243A possibly damaging Het
Raly A G 2: 154,699,315 (GRCm39) T40A possibly damaging Het
Rasgrp3 G T 17: 75,816,822 (GRCm39) probably null Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Smim22 G C 16: 4,825,649 (GRCm39) E11D possibly damaging Het
Socs2 T C 10: 95,250,780 (GRCm39) S18G probably benign Het
Srgap2 T C 1: 131,228,151 (GRCm39) E720G possibly damaging Het
Tas2r135 A G 6: 42,382,768 (GRCm39) I102M probably benign Het
Tex19.2 A G 11: 121,007,761 (GRCm39) V229A possibly damaging Het
Vmn1r234 T A 17: 21,449,512 (GRCm39) I142N probably benign Het
Vps35l A T 7: 118,409,194 (GRCm39) I612F probably damaging Het
Vwa3a C T 7: 120,379,377 (GRCm39) T494I probably damaging Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Zfhx3 A G 8: 109,641,199 (GRCm39) D1166G possibly damaging Het
Other mutations in Pla2g12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Pla2g12b APN 10 59,252,239 (GRCm39) missense probably benign 0.28
IGL02526:Pla2g12b APN 10 59,252,275 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACAGACTGACTGTACCGATAAGCCC -3'
(R):5'- CACAGGATTTAGTTGCCTGCTTGC -3'

Sequencing Primer
(F):5'- TGCAAAATGAAGCTGCTCTGC -3'
(R):5'- GCATTTCGGATGACGCTACAC -3'
Posted On 2014-10-28