Incidental Mutation 'R5963:Pla2g12b'
ID 471887
Institutional Source Beutler Lab
Gene Symbol Pla2g12b
Ensembl Gene ENSMUSG00000009646
Gene Name phospholipase A2, group XIIB
Synonyms Pla2g13, 2010002E04Rik, hlb218
MMRRC Submission 044148-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.766) question?
Stock # R5963 (G1)
Quality Score 206
Status Validated
Chromosome 10
Chromosomal Location 59239482-59257798 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59239780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 63 (V63D)
Ref Sequence ENSEMBL: ENSMUSP00000009790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009790]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000009790
AA Change: V63D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000009790
Gene: ENSMUSG00000009646
AA Change: V63D

DomainStartEndE-ValueType
Pfam:PLA2G12 12 195 1.5e-89 PFAM
Meta Mutation Damage Score 0.4390 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.5%
Validation Efficiency 99% (68/69)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg8 A G 7: 97,029,037 (GRCm39) K131E probably benign Het
Ank3 T A 10: 69,823,056 (GRCm39) L575* probably null Het
Aqr T C 2: 113,957,442 (GRCm39) T819A probably damaging Het
Bbs2 A T 8: 94,807,659 (GRCm39) S407T probably benign Het
Bmper T A 9: 23,286,889 (GRCm39) C272S probably benign Het
Btbd9 C T 17: 30,553,192 (GRCm39) probably null Het
C5ar1 A G 7: 15,982,747 (GRCm39) V91A possibly damaging Het
Ccdc138 A G 10: 58,411,579 (GRCm39) H649R possibly damaging Het
Cfap43 A T 19: 47,734,013 (GRCm39) V1451E probably benign Het
Cfap46 T A 7: 139,231,511 (GRCm39) M901L probably damaging Het
Cherp G T 8: 73,215,379 (GRCm39) probably benign Het
D430041D05Rik C T 2: 104,078,630 (GRCm39) V1229I possibly damaging Het
Fat4 A C 3: 39,064,696 (GRCm39) D4884A probably damaging Het
Fcrl5 T C 3: 87,351,480 (GRCm39) F243L probably damaging Het
Garem1 T A 18: 21,262,487 (GRCm39) I776F probably benign Het
Gpr87 T A 3: 59,086,690 (GRCm39) R272* probably null Het
Gsdmc A T 15: 63,651,965 (GRCm39) probably null Het
Hydin T A 8: 111,220,926 (GRCm39) F1441I possibly damaging Het
Ints11 T A 4: 155,957,369 (GRCm39) C63* probably null Het
Kdm4b A T 17: 56,706,732 (GRCm39) T908S probably damaging Het
Lipn A G 19: 34,058,700 (GRCm39) D304G probably damaging Het
Man2a1 T G 17: 64,982,117 (GRCm39) N544K probably benign Het
Mapkapk5 G T 5: 121,676,544 (GRCm39) H66N probably damaging Het
Mog G A 17: 37,323,240 (GRCm39) R233* probably null Het
Mrps24 A T 11: 5,657,481 (GRCm39) probably benign Het
Nom1 T C 5: 29,642,768 (GRCm39) L423P probably damaging Het
Or51b6 T A 7: 103,556,168 (GRCm39) V174E probably benign Het
Pcdha1 T A 18: 37,064,224 (GRCm39) V296E probably damaging Het
Pdcd2 T C 17: 15,746,656 (GRCm39) K168E possibly damaging Het
Pdcd2 G T 17: 15,746,657 (GRCm39) H167Q probably damaging Het
Pnn C T 12: 59,114,617 (GRCm39) R56* probably null Het
Primpol T A 8: 47,046,615 (GRCm39) E227V possibly damaging Het
Rad54l A T 4: 115,967,584 (GRCm39) W233R probably damaging Het
Rims2 A T 15: 39,300,578 (GRCm39) D103V probably damaging Het
Rttn T C 18: 89,091,819 (GRCm39) S1511P probably benign Het
Septin5 T C 16: 18,442,962 (GRCm39) probably null Het
Simc1 T A 13: 54,673,632 (GRCm39) I660K possibly damaging Het
Slc15a5 A G 6: 138,056,691 (GRCm39) L75P probably damaging Het
Slc9a2 A G 1: 40,721,196 (GRCm39) S55G possibly damaging Het
Slit3 C T 11: 35,591,063 (GRCm39) R1292C probably damaging Het
Slitrk3 A G 3: 72,958,046 (GRCm39) V242A probably benign Het
St14 A T 9: 31,017,853 (GRCm39) probably benign Het
Tnnt2 T C 1: 135,771,600 (GRCm39) probably benign Het
Traf5 G A 1: 191,731,977 (GRCm39) T288I probably benign Het
Trerf1 C T 17: 47,625,263 (GRCm39) noncoding transcript Het
Vegfc A G 8: 54,634,319 (GRCm39) N333D probably benign Het
Vmn1r65 T A 7: 6,011,608 (GRCm39) I209F probably damaging Het
Vps51 A G 19: 6,118,320 (GRCm39) L725P probably damaging Het
Vps8 T C 16: 21,288,871 (GRCm39) I408T possibly damaging Het
Wdr72 T C 9: 74,052,310 (GRCm39) Y114H probably damaging Het
Ybx2 A G 11: 69,831,918 (GRCm39) E164G probably damaging Het
Zcchc14 A T 8: 122,355,362 (GRCm39) probably benign Het
Zfp383 A G 7: 29,615,103 (GRCm39) T453A possibly damaging Het
Zfp84 G T 7: 29,476,378 (GRCm39) G357C probably damaging Het
Zmynd11 G T 13: 9,745,931 (GRCm39) probably benign 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
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
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'- TGCAAAATGAAGCTGCTCTGC -3'
(R):5'- AGAACCCAGACTTCACTCGG -3'

Sequencing Primer
(F):5'- CGGCTTCTTCCTCCTGTGG -3'
(R):5'- GGCCCCTCACAGGATTTAGTTG -3'
Posted On 2017-03-31