Incidental Mutation 'R7897:Pla2g12b'
ID 609760
Institutional Source Beutler Lab
Gene Symbol Pla2g12b
Ensembl Gene ENSMUSG00000009646
Gene Name phospholipase A2, group XIIB
Synonyms 2010002E04Rik, hlb218, Pla2g13
MMRRC Submission 045949-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.793) question?
Stock # R7897 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 59403660-59421976 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 59410994 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 77 (R77*)
Ref Sequence ENSEMBL: ENSMUSP00000009790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009790] [ENSMUST00000162643]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000009790
AA Change: R77*
SMART Domains Protein: ENSMUSP00000009790
Gene: ENSMUSG00000009646
AA Change: R77*

Pfam:PLA2G12 12 195 1.5e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162643
SMART Domains Protein: ENSMUSP00000123842
Gene: ENSMUSG00000009646

Pfam:PLA2G12 1 77 1.7e-36 PFAM
low complexity region 90 101 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700080E11Rik A C 9: 105,144,510 (GRCm38) Y112* probably null Het
Abcb11 TGTTGATCCATA T 2: 69,323,872 (GRCm38) probably null Het
Abcb11 GTTGATCCATACA G 2: 69,323,873 (GRCm38) probably benign Het
Abcc10 T C 17: 46,324,073 (GRCm38) T335A probably benign Het
Actr3b T C 5: 25,831,659 (GRCm38) Y245H probably benign Het
Afm G A 5: 90,547,868 (GRCm38) M411I probably benign Het
Ahr T C 12: 35,504,170 (GRCm38) N650S possibly damaging Het
Ap5m1 A G 14: 49,073,775 (GRCm38) R101G probably benign Het
Atp13a4 T C 16: 29,396,466 (GRCm38) Q1151R Het
Bcl9 A G 3: 97,205,251 (GRCm38) V1296A possibly damaging Het
Bsn A C 9: 108,111,866 (GRCm38) M2229R probably damaging Het
Cfap74 T C 4: 155,429,894 (GRCm38) V529A Het
Clip1 C T 5: 123,622,798 (GRCm38) V767M probably benign Het
Col6a5 A G 9: 105,889,183 (GRCm38) I1846T possibly damaging Het
Crisp1 A T 17: 40,307,765 (GRCm38) D68E probably benign Het
Csmd1 A T 8: 17,534,919 (GRCm38) L19Q possibly damaging Het
Cul7 T C 17: 46,658,005 (GRCm38) I892T probably benign Het
Elavl3 G A 9: 22,018,550 (GRCm38) R353C probably damaging Het
Fam184a C A 10: 53,633,706 (GRCm38) E126* probably null Het
Fbxo3 A G 2: 104,053,412 (GRCm38) D327G possibly damaging Het
Galr1 T C 18: 82,406,131 (GRCm38) N7S probably benign Het
Glyatl3 T C 17: 40,904,911 (GRCm38) T235A probably damaging Het
Gm11639 A T 11: 104,998,235 (GRCm38) Y4159F probably benign Het
Gm5145 A C 17: 20,570,705 (GRCm38) Q115P probably benign Het
Grm5 T C 7: 88,130,861 (GRCm38) S1202P probably benign Het
Itsn1 G A 16: 91,818,558 (GRCm38) R397H unknown Het
Jmjd1c A G 10: 67,239,865 (GRCm38) N1837S probably damaging Het
Jph3 A T 8: 121,789,397 (GRCm38) probably null Het
Kcna6 A G 6: 126,738,798 (GRCm38) L376P probably damaging Het
Kcne3 C G 7: 100,184,313 (GRCm38) R46G probably benign Het
Kcnq2 T C 2: 181,081,141 (GRCm38) D842G probably damaging Het
Klhl12 A T 1: 134,458,481 (GRCm38) I4F probably benign Het
Kpna1 T A 16: 36,033,865 (GRCm38) I525N probably benign Het
Krtap31-1 T C 11: 99,908,123 (GRCm38) C51R possibly damaging Het
Ms4a12 C T 19: 11,230,359 (GRCm38) G61D possibly damaging Het
Nol4 T C 18: 22,823,343 (GRCm38) N115D Het
Pcdh15 A G 10: 74,453,995 (GRCm38) Y882C probably damaging Het
Pde8b T A 13: 95,107,694 (GRCm38) H79L probably benign Het
Pdia2 T C 17: 26,198,233 (GRCm38) E79G probably benign Het
Pgap1 A T 1: 54,551,008 (GRCm38) F90L probably damaging Het
Pik3cd T A 4: 149,657,269 (GRCm38) T407S probably benign Het
Pkd1l2 G T 8: 116,998,088 (GRCm38) F2361L possibly damaging Het
Ppfia2 A G 10: 106,819,538 (GRCm38) Y322C probably damaging Het
Psg23 T C 7: 18,607,183 (GRCm38) Q382R possibly damaging Het
Ptprq A G 10: 107,710,623 (GRCm38) V270A probably benign Het
Rictor C T 15: 6,772,154 (GRCm38) S441L probably benign Het
Robo2 T C 16: 73,898,950 (GRCm38) E1431G probably benign Het
Sdk2 A G 11: 113,873,201 (GRCm38) I253T possibly damaging Het
Sox9 A C 11: 112,784,809 (GRCm38) I275L probably benign Het
Tlr4 A G 4: 66,839,821 (GRCm38) I284V probably benign Het
Unc13b A G 4: 43,171,860 (GRCm38) D896G unknown Het
Usp48 A T 4: 137,644,428 (GRCm38) H955L probably damaging Het
Vps54 T C 11: 21,263,307 (GRCm38) I30T probably benign Het
Zfp106 G A 2: 120,535,615 (GRCm38) R59* probably null Het
Zmym4 A T 4: 126,889,539 (GRCm38) D1169E possibly damaging Het
Zscan2 T A 7: 80,875,700 (GRCm38) Y390N probably damaging Het
Other mutations in Pla2g12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Pla2g12b APN 10 59,416,417 (GRCm38) missense probably benign 0.28
IGL02526:Pla2g12b APN 10 59,416,453 (GRCm38) missense probably damaging 1.00
IGL02551:Pla2g12b APN 10 59,403,870 (GRCm38) missense probably damaging 1.00
florissant UTSW 10 59,421,441 (GRCm38) unclassified probably benign
R0800:Pla2g12b UTSW 10 59,403,820 (GRCm38) missense probably benign 0.00
R0918:Pla2g12b UTSW 10 59,421,484 (GRCm38) missense probably damaging 0.98
R1412:Pla2g12b UTSW 10 59,403,982 (GRCm38) critical splice donor site probably null
R1602:Pla2g12b UTSW 10 59,421,553 (GRCm38) splice site probably null
R3765:Pla2g12b UTSW 10 59,421,501 (GRCm38) missense probably damaging 1.00
R4822:Pla2g12b UTSW 10 59,416,514 (GRCm38) critical splice donor site probably null
R5963:Pla2g12b UTSW 10 59,403,958 (GRCm38) missense probably damaging 1.00
R6140:Pla2g12b UTSW 10 59,421,441 (GRCm38) unclassified probably benign
R7889:Pla2g12b UTSW 10 59,421,240 (GRCm38) splice site probably null
R8075:Pla2g12b UTSW 10 59,421,452 (GRCm38) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-12-20