Incidental Mutation 'R9177:Pla2g1b'
ID 696741
Institutional Source Beutler Lab
Gene Symbol Pla2g1b
Ensembl Gene ENSMUSG00000029522
Gene Name phospholipase A2, group IB, pancreas
Synonyms Pla2a, sPLA2IB
MMRRC Submission 068949-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R9177 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 115604321-115612781 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 115612595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 117 (I117S)
Ref Sequence ENSEMBL: ENSMUSP00000031495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031495] [ENSMUST00000112066] [ENSMUST00000112067] [ENSMUST00000112071] [ENSMUST00000125568] [ENSMUST00000145785]
AlphaFold Q9Z0Y2
Predicted Effect probably damaging
Transcript: ENSMUST00000031495
AA Change: I117S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031495
Gene: ENSMUSG00000029522
AA Change: I117S

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
PA2c 23 146 1.34e-66 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112066
SMART Domains Protein: ENSMUSP00000107697
Gene: ENSMUSG00000029524

DomainStartEndE-ValueType
Pfam:SIR2 59 264 1.2e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112067
SMART Domains Protein: ENSMUSP00000107698
Gene: ENSMUSG00000029524

DomainStartEndE-ValueType
Pfam:SIR2 59 264 3.7e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112071
SMART Domains Protein: ENSMUSP00000107702
Gene: ENSMUSG00000029522

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
PA2c 23 82 2.08e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000125568
AA Change: I116S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120743
Gene: ENSMUSG00000029522
AA Change: I116S

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
PA2c 22 124 2.58e-45 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145785
AA Change: H74Q

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000138683
Gene: ENSMUSG00000029522
AA Change: H74Q

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
PA2c 23 76 2.16e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 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.] 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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,775,677 (GRCm39) V1622D probably damaging Het
Acadsb C T 7: 131,033,763 (GRCm39) T260I probably damaging Het
Acap2 A T 16: 30,955,392 (GRCm39) V161E probably damaging Het
Alk T C 17: 72,181,190 (GRCm39) T1367A probably damaging Het
Atg2a A C 19: 6,291,905 (GRCm39) H27P probably damaging Het
Atp2c1 C T 9: 105,336,858 (GRCm39) probably null Het
C1s1 T G 6: 124,508,362 (GRCm39) K542N probably damaging Het
Camk1d A G 2: 5,303,901 (GRCm39) S351P probably benign Het
Carf C A 1: 60,148,558 (GRCm39) Q85K possibly damaging Het
Caskin2 T C 11: 115,698,683 (GRCm39) N43S probably damaging Het
Cd40 T C 2: 164,905,465 (GRCm39) C161R probably damaging Het
Cdh19 A G 1: 110,877,111 (GRCm39) F76S probably damaging Het
Cdkl1 T C 12: 69,794,100 (GRCm39) N346D probably benign Het
Cdon A G 9: 35,381,230 (GRCm39) D540G probably benign Het
Cep164 T A 9: 45,691,060 (GRCm39) E379V probably damaging Het
Clock T C 5: 76,377,256 (GRCm39) N681S probably benign Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Col6a5 T G 9: 105,808,152 (GRCm39) K965N unknown Het
Dctn4 T A 18: 60,659,304 (GRCm39) M1K probably null Het
Dhx30 T C 9: 109,915,750 (GRCm39) D741G probably damaging Het
Dhx37 A G 5: 125,507,958 (GRCm39) V104A probably benign Het
Dnah12 A G 14: 26,571,255 (GRCm39) K2788R possibly damaging Het
Egfr T A 11: 16,855,410 (GRCm39) D898E probably damaging Het
Eif2ak4 G C 2: 118,271,701 (GRCm39) probably null Het
Eif6 A G 2: 155,665,852 (GRCm39) L101P probably damaging Het
Etaa1 A T 11: 17,896,419 (GRCm39) V566E probably damaging Het
Far2 C T 6: 148,060,418 (GRCm39) T257I probably benign Het
Fuca2 G A 10: 13,390,563 (GRCm39) W453* probably null Het
Galntl6 A T 8: 58,310,590 (GRCm39) Y370* probably null Het
Gcn1 T C 5: 115,719,867 (GRCm39) V374A probably benign Het
Hjv T C 3: 96,435,881 (GRCm39) F380L probably benign Het
Hycc2 T C 1: 58,591,361 (GRCm39) D94G probably damaging Het
Ifi202b A T 1: 173,804,949 (GRCm39) M1K probably null Het
Lama4 A G 10: 38,950,688 (GRCm39) Y997C probably damaging Het
Lepr T A 4: 101,602,798 (GRCm39) C195* probably null Het
Lrrc37 T A 11: 103,508,263 (GRCm39) H1235L unknown Het
Lrrc73 T C 17: 46,565,535 (GRCm39) S89P probably benign Het
Macf1 T C 4: 123,367,582 (GRCm39) E2393G probably damaging Het
Mdga2 T A 12: 66,517,481 (GRCm39) T118S possibly damaging Het
Msantd5f3 T C 4: 73,575,373 (GRCm39) S351P probably damaging Het
Mtf2 A G 5: 108,234,949 (GRCm39) K124R probably benign Het
Muc5b T C 7: 141,399,075 (GRCm39) Y339H unknown Het
Nes G A 3: 87,887,012 (GRCm39) G1757E probably damaging Het
Nfatc4 A T 14: 56,064,685 (GRCm39) I391F probably damaging Het
Nup93 A T 8: 94,954,371 (GRCm39) I23F probably benign Het
Or4a27 A C 2: 88,559,174 (GRCm39) Y256* probably null Het
Or5h17 T G 16: 58,820,083 (GRCm39) F12V probably damaging Het
Or6y1 A C 1: 174,276,923 (GRCm39) T245P probably damaging Het
Or7g16 G T 9: 18,726,742 (GRCm39) Q283K probably damaging Het
Or9i14 A T 19: 13,792,388 (GRCm39) C189S probably damaging Het
Pak5 A C 2: 135,943,126 (GRCm39) M338R probably benign Het
Papola A G 12: 105,766,032 (GRCm39) E44G probably benign Het
Pcdh15 A T 10: 74,479,455 (GRCm39) E522V probably benign Het
Peli2 A G 14: 48,518,927 (GRCm39) E225G probably benign Het
Plxnd1 G T 6: 115,943,469 (GRCm39) Q1246K probably benign Het
Pole A G 5: 110,480,288 (GRCm39) E1953G probably benign Het
Pus7l T C 15: 94,431,445 (GRCm39) I395V probably benign Het
Shisa7 T G 7: 4,837,333 (GRCm39) D244A probably damaging Het
Slco3a1 T C 7: 73,952,946 (GRCm39) T538A probably benign Het
Syk T A 13: 52,766,480 (GRCm39) N188K probably benign Het
Tcf20 A G 15: 82,740,705 (GRCm39) S249P probably benign Het
Tmem25 T C 9: 44,709,529 (GRCm39) T91A possibly damaging Het
Trank1 T C 9: 111,221,579 (GRCm39) V2772A probably benign Het
Ttn A T 2: 76,596,447 (GRCm39) Y20155* probably null Het
Uchl4 C T 9: 64,142,986 (GRCm39) H156Y probably benign Het
Ulbp1 A T 10: 7,396,392 (GRCm39) L295Q unknown Het
Vwf G A 6: 125,581,254 (GRCm39) A631T Het
Zfp810 C T 9: 22,189,936 (GRCm39) C324Y probably damaging Het
Zswim8 T C 14: 20,761,908 (GRCm39) L227P probably damaging 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
R4401:Pla2g1b UTSW 5 115,608,947 (GRCm39) nonsense probably null
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
R9214:Pla2g1b UTSW 5 115,610,107 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- GGCAACCCCAACGTACTTTC -3'
(R):5'- AAGGCTAGACGGAATGCTTTC -3'

Sequencing Primer
(F):5'- ACGTACTTTCGTTTTGCTTCTG -3'
(R):5'- CCTGCTCGGTGGACAGAGATAAC -3'
Posted On 2022-02-07