Incidental Mutation 'R4401:Pla2g1b'
ID 326626
Institutional Source Beutler Lab
Gene Symbol Pla2g1b
Ensembl Gene ENSMUSG00000029522
Gene Name phospholipase A2, group IB, pancreas
Synonyms Pla2a, sPLA2IB
MMRRC Submission 041132-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R4401 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 115604321-115612781 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 115608947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 47 (Y47*)
Ref Sequence ENSEMBL: ENSMUSP00000138683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031495] [ENSMUST00000112071] [ENSMUST00000125568] [ENSMUST00000145785]
AlphaFold Q9Z0Y2
Predicted Effect probably null
Transcript: ENSMUST00000031495
AA Change: Y47*
SMART Domains Protein: ENSMUSP00000031495
Gene: ENSMUSG00000029522
AA Change: Y47*

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
PA2c 23 146 1.34e-66 SMART
Predicted Effect probably null
Transcript: ENSMUST00000112071
AA Change: Y47*
SMART Domains Protein: ENSMUSP00000107702
Gene: ENSMUSG00000029522
AA Change: Y47*

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
PA2c 23 82 2.08e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000125568
AA Change: Y46*
SMART Domains Protein: ENSMUSP00000120743
Gene: ENSMUSG00000029522
AA Change: Y46*

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
PA2c 22 124 2.58e-45 SMART
Predicted Effect probably null
Transcript: ENSMUST00000145785
AA Change: Y47*
SMART Domains Protein: ENSMUSP00000138683
Gene: ENSMUSG00000029522
AA Change: Y47*

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
PA2c 23 76 2.16e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202822
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted member of the phospholipase A2 (PLA2) class of enzymes, which is produced by the pancreatic acinar cells. The encoded calcium-dependent enzyme catalyzes the hydrolysis of the sn-2 position of membrane glycerophospholipids to release arachidonic acid (AA) and lysophospholipids. AA is subsequently converted by downstream metabolic enzymes to several bioactive lipophilic compounds (eicosanoids), including prostaglandins (PGs) and leukotrienes (LTs). The enzyme may be involved in several physiological processes including cell contraction, cell proliferation and pathological response. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in lipid absorption, increased insulin sensitivity and improved glucose tolerance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,752,390 (GRCm39) I454V possibly damaging Het
Acvr2a A G 2: 48,789,714 (GRCm39) T486A probably benign Het
Ap3b1 C A 13: 94,554,607 (GRCm39) L248I probably damaging Het
Atad2b T A 12: 4,990,145 (GRCm39) C157S probably damaging Het
Cage1 T A 13: 38,207,078 (GRCm39) I256F probably damaging Het
Cct2 A G 10: 116,893,714 (GRCm39) I287T possibly damaging Het
Cntn4 A G 6: 106,466,625 (GRCm39) T176A possibly damaging Het
Cracd G A 5: 76,996,763 (GRCm39) V74I probably damaging Het
Cyp2c54 T C 19: 40,060,615 (GRCm39) N122S probably benign Het
Cytip T C 2: 58,023,947 (GRCm39) D291G probably benign Het
Eef1d C T 15: 75,774,769 (GRCm39) V213I probably benign Het
Fnbp4 A G 2: 90,577,102 (GRCm39) T145A possibly damaging Het
Fras1 C A 5: 96,790,479 (GRCm39) T951K probably damaging Het
Gm11937 C T 11: 99,500,901 (GRCm39) V39M probably damaging Het
Gm6712 C T 17: 17,538,366 (GRCm39) noncoding transcript Het
Hira A G 16: 18,744,470 (GRCm39) I352V probably damaging Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Lpcat2 T C 8: 93,599,683 (GRCm39) V217A possibly damaging Het
Mroh2a G T 1: 88,182,657 (GRCm39) R1195L possibly damaging Het
Or2a25 G T 6: 42,889,260 (GRCm39) E268* probably null Het
Or4k35 A G 2: 111,100,178 (GRCm39) F178S probably damaging Het
Or51f5 C T 7: 102,424,006 (GRCm39) R92* probably null Het
Rfng A T 11: 120,673,306 (GRCm39) V245E possibly damaging Het
Rpf2 A G 10: 40,112,124 (GRCm39) V104A possibly damaging Het
Rps6kc1 G T 1: 190,532,155 (GRCm39) H616N probably benign Het
Slc66a1 T C 4: 139,033,854 (GRCm39) I22V probably benign Het
Slc9b2 T C 3: 135,042,305 (GRCm39) V528A probably benign Het
Srgap1 T C 10: 121,640,826 (GRCm39) probably null Het
Trrap A G 5: 144,780,128 (GRCm39) T3240A possibly damaging Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Zfhx4 C A 3: 5,468,405 (GRCm39) Y2854* probably null Het
Zfp986 C T 4: 145,625,513 (GRCm39) R58C probably benign Het
Other mutations in Pla2g1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03282:Pla2g1b APN 5 115,608,939 (GRCm39) missense probably damaging 0.99
IGL03367:Pla2g1b APN 5 115,610,173 (GRCm39) missense probably damaging 1.00
R4402:Pla2g1b UTSW 5 115,608,947 (GRCm39) nonsense probably null
R4403:Pla2g1b UTSW 5 115,608,947 (GRCm39) nonsense probably null
R4958:Pla2g1b UTSW 5 115,608,885 (GRCm39) missense probably damaging 0.97
R9177:Pla2g1b UTSW 5 115,612,595 (GRCm39) missense probably damaging 1.00
R9214:Pla2g1b UTSW 5 115,610,107 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- CGCACATTAGTAGGCTTCTGGG -3'
(R):5'- AATACACACGACGCTCAGGG -3'

Sequencing Primer
(F):5'- TCCCGAGGCAGCAACTGATAG -3'
(R):5'- AGGGACTGTGCATGCCTC -3'
Posted On 2015-07-07