Incidental Mutation 'IGL01133:Pla2g12b'
ID 52147
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 # IGL01133
Quality Score
Status
Chromosome 10
Chromosomal Location 59239482-59257798 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 59252239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 37 (A37S)
Ref Sequence ENSEMBL: ENSMUSP00000123842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009790] [ENSMUST00000162643]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000009790
AA Change: A124S

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000009790
Gene: ENSMUSG00000009646
AA Change: A124S

DomainStartEndE-ValueType
Pfam:PLA2G12 12 195 1.5e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162643
AA Change: A37S

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000123842
Gene: ENSMUSG00000009646
AA Change: A37S

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Adam4 T C 12: 81,468,220 (GRCm39) T134A possibly damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Cartpt T G 13: 100,036,548 (GRCm39) I67L probably benign Het
Cc2d1a G T 8: 84,870,033 (GRCm39) H161N probably benign Het
Ccer1 T C 10: 97,530,401 (GRCm39) F355L probably benign Het
Cert1 A G 13: 96,751,310 (GRCm39) E320G probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cfap299 T C 5: 98,646,240 (GRCm39) probably null Het
Cfap36 A C 11: 29,184,414 (GRCm39) V114G probably damaging Het
Cyp2b9 G A 7: 25,909,660 (GRCm39) G476D probably damaging Het
Eif3l T C 15: 78,961,120 (GRCm39) Y58H possibly damaging Het
Gapvd1 T C 2: 34,615,410 (GRCm39) Y411C probably damaging Het
Gm27029 G T 11: 101,302,786 (GRCm39) F236L possibly damaging Het
Golga1 T C 2: 38,913,484 (GRCm39) T501A probably benign Het
Heg1 C T 16: 33,547,657 (GRCm39) H815Y probably benign Het
Krt1 A T 15: 101,756,628 (GRCm39) D298E probably damaging Het
Mecr T A 4: 131,570,907 (GRCm39) S32T probably benign Het
Med1 A T 11: 98,048,812 (GRCm39) Y661* probably null Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Plekha7 G T 7: 115,744,476 (GRCm39) probably null Het
Ralgapa1 T C 12: 55,689,133 (GRCm39) I1989V probably damaging Het
Ralgapa1 T C 12: 55,689,144 (GRCm39) H1938R probably damaging Het
Sanbr A T 11: 23,545,434 (GRCm39) D486E probably damaging Het
Sec31b A G 19: 44,515,480 (GRCm39) F309S probably damaging Het
Serpina3a T C 12: 104,087,758 (GRCm39) I227T probably benign Het
Slc1a3 A G 15: 8,675,171 (GRCm39) I278T probably damaging Het
Slc1a3 T C 15: 8,680,477 (GRCm39) Y127C probably damaging Het
Spen T C 4: 141,217,212 (GRCm39) K449R unknown Het
Thoc2l A G 5: 104,665,528 (GRCm39) T17A probably benign Het
Tmem130 A G 5: 144,689,255 (GRCm39) S129P probably damaging Het
Trim68 A T 7: 102,328,348 (GRCm39) probably null Het
Vdac3-ps1 T C 13: 18,206,034 (GRCm39) noncoding transcript Het
Vmn2r75 A G 7: 85,797,240 (GRCm39) probably benign Het
Zbtb9 G T 17: 27,193,985 (GRCm39) probably benign Het
Zfp568 T A 7: 29,687,233 (GRCm39) probably null Het
Other mutations in Pla2g12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-06-21