Incidental Mutation 'R1602:Pla2g12b'
ID 176214
Institutional Source Beutler Lab
Gene Symbol Pla2g12b
Ensembl Gene ENSMUSG00000009646
Gene Name phospholipase A2, group XIIB
Synonyms Pla2g13, 2010002E04Rik, hlb218
MMRRC Submission 039639-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.787) question?
Stock # R1602 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 59239482-59257798 bp(+) (GRCm39)
Type of Mutation splice site (1405 bp from exon)
DNA Base Change (assembly) T to C at 59257375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000009798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009790] [ENSMUST00000009798] [ENSMUST00000162643]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000009790
AA Change: I186T

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000009790
Gene: ENSMUSG00000009646
AA Change: I186T

DomainStartEndE-ValueType
Pfam:PLA2G12 12 195 1.5e-89 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000009798
SMART Domains Protein: ENSMUSP00000009798
Gene: ENSMUSG00000009654

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Blast:ZP 50 144 9e-24 BLAST
EGF 150 181 2.16e1 SMART
EGF 185 222 2.94e-3 SMART
EGF 226 263 2.35e-2 SMART
ZP 267 516 2.74e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162643
SMART Domains Protein: ENSMUSP00000123842
Gene: ENSMUSG00000009646

DomainStartEndE-ValueType
Pfam:PLA2G12 1 77 1.7e-36 PFAM
low complexity region 90 101 N/A INTRINSIC
Meta Mutation Damage Score 0.1127 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.4%
Validation Efficiency 91% (49/54)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd12 A T 17: 66,290,683 (GRCm39) Y1583* probably null Het
Ankrd34c T C 9: 89,611,058 (GRCm39) T428A possibly damaging Het
Arfgef1 G C 1: 10,275,115 (GRCm39) I312M probably benign Het
Atr T C 9: 95,833,610 (GRCm39) L2620P probably damaging Het
Ccdc110 A G 8: 46,391,955 (GRCm39) Y54C probably benign Het
Cecr2 T C 6: 120,732,548 (GRCm39) V480A possibly damaging Het
Chfr A G 5: 110,299,531 (GRCm39) D308G probably benign Het
Cit T A 5: 116,135,789 (GRCm39) I1919N probably damaging Het
Ctsc T A 7: 87,927,512 (GRCm39) D34E possibly damaging Het
Diaph3 T A 14: 87,328,594 (GRCm39) probably benign Het
Dnah6 T A 6: 73,044,452 (GRCm39) I3220F probably damaging Het
Eif1ad16 C A 12: 87,985,134 (GRCm39) E136D probably benign Het
Eif4a3l1 G A 6: 136,305,778 (GRCm39) A80T probably damaging Het
Elmod3 A G 6: 72,546,242 (GRCm39) probably null Het
Fgd5 T C 6: 92,043,165 (GRCm39) V1215A possibly damaging Het
Filip1 T C 9: 79,727,873 (GRCm39) M249V probably damaging Het
Fmn1 C T 2: 113,355,968 (GRCm39) P803L unknown Het
Gcfc2 A G 6: 81,921,401 (GRCm39) K469R probably damaging Het
Itgad A G 7: 127,790,111 (GRCm39) T637A probably damaging Het
Kank2 T C 9: 21,681,133 (GRCm39) S799G probably damaging Het
Kcnc4 A T 3: 107,355,520 (GRCm39) D309E possibly damaging Het
Lamc2 G A 1: 153,002,774 (GRCm39) T1069M probably benign Het
Lepr T A 4: 101,602,842 (GRCm39) M210K possibly damaging Het
Lig3 T C 11: 82,683,020 (GRCm39) probably null Het
Oat G T 7: 132,171,736 (GRCm39) T33K probably benign Het
Or2ad1 T C 13: 21,326,820 (GRCm39) M136V probably damaging Het
Or4b1d A G 2: 89,969,399 (GRCm39) F28S probably damaging Het
Or7c70 T A 10: 78,682,802 (GRCm39) M316L probably benign Het
Pcnx3 G T 19: 5,722,543 (GRCm39) A1383E probably damaging Het
Pctp T C 11: 89,879,561 (GRCm39) Y100C probably damaging Het
Pex6 G T 17: 47,023,063 (GRCm39) R213L probably benign Het
Phlpp2 T C 8: 110,660,655 (GRCm39) L770S possibly damaging Het
Pkn2 A T 3: 142,559,299 (GRCm39) D75E possibly damaging Het
Plch2 C T 4: 155,068,907 (GRCm39) V1135I probably damaging Het
Pskh1 T A 8: 106,639,453 (GRCm39) S44R probably benign Het
Ptpra G T 2: 30,327,602 (GRCm39) A119S probably benign Het
Shld2 A G 14: 33,989,607 (GRCm39) I433T probably damaging Het
Slfn3 A G 11: 83,103,541 (GRCm39) I137M probably damaging Het
St6galnac1 A T 11: 116,660,113 (GRCm39) S67T probably benign Het
Timd5 T C 11: 46,426,415 (GRCm39) I174T probably benign Het
Treml1 A G 17: 48,671,917 (GRCm39) E137G probably damaging Het
Ubr2 A C 17: 47,251,987 (GRCm39) C1518G probably benign Het
Vmn2r55 A T 7: 12,386,571 (GRCm39) C470S probably 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
R1412:Pla2g12b UTSW 10 59,239,804 (GRCm39) critical splice donor 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'- GCTCATCACCCTGGAAATACCCTG -3'
(R):5'- TGTAGCGGTCCTTCAGCGAAGAAC -3'

Sequencing Primer
(F):5'- CTGGAAATACCCTGCCTCAC -3'
(R):5'- GAACTGAATTTCCAGGCACG -3'
Posted On 2014-04-24