Incidental Mutation 'R1024:Pla2g3'
ID 98763
Institutional Source Beutler Lab
Gene Symbol Pla2g3
Ensembl Gene ENSMUSG00000034579
Gene Name phospholipase A2, group III
Synonyms 9130003P18Rik
MMRRC Submission 039126-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R1024 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 3438284-3449350 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 3438551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 67 (C67Y)
Ref Sequence ENSEMBL: ENSMUSP00000068699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044682] [ENSMUST00000064265]
AlphaFold Q8BZT7
Predicted Effect probably damaging
Transcript: ENSMUST00000044682
AA Change: C67Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041571
Gene: ENSMUSG00000034579
AA Change: C67Y

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PA2c 139 259 1.58e-2 SMART
low complexity region 305 324 N/A INTRINSIC
Pfam:Phospholip_A2_2 343 431 4e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000064265
AA Change: C67Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068699
Gene: ENSMUSG00000034579
AA Change: C67Y

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PA2c 139 259 1.58e-2 SMART
low complexity region 305 324 N/A INTRINSIC
Pfam:Phospholip_A2_2 343 426 5.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151860
Meta Mutation Damage Score 0.4652 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.4%
  • 10x: 95.6%
  • 20x: 90.2%
Validation Efficiency 90% (36/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the secreted phospholipase A2 family, whose members include the bee venom enzyme. The encoded enzyme functions in lipid metabolism and catalyzes the calcium-dependent hydrolysis of the sn-2 acyl bond of phospholipids to release arachidonic acid and lysophospholipids. This enzyme acts as a negative regulator of ciliogenesis, and may play a role in cancer development by stimulating tumor cell growth and angiogenesis. This gene is associated with oxidative stress, and polymorphisms in this gene are linked to risk for Alzheimer's disease. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous mice have reduced male fertility with smaller litter size and decreased susceptibility to IgE antigen-induced passive systemic and cutaneous anaphylaxis due to impaired mast cell maturation, degranulation and histamine release. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T C 7: 75,327,157 (GRCm39) S719P probably damaging Het
Atxn2l A T 7: 126,096,466 (GRCm39) N425K probably benign Het
B3galt4 G A 17: 34,169,813 (GRCm39) R142C probably damaging Het
Cacna2d2 T C 9: 107,404,249 (GRCm39) probably null Het
Ccar2 A G 14: 70,377,964 (GRCm39) S674P probably damaging Het
Ccm2 T A 11: 6,520,119 (GRCm39) Y56* probably null Het
Cdc14b A T 13: 64,363,490 (GRCm39) V257E probably damaging Het
Cdca8 A C 4: 124,815,798 (GRCm39) S171R probably benign Het
Cep192 C T 18: 67,971,125 (GRCm39) T1042I probably benign Het
Cfap100 T A 6: 90,389,986 (GRCm39) T101S possibly damaging Het
Cfap46 T A 7: 139,222,513 (GRCm39) M1155L probably benign Het
Cyp3a13 T A 5: 137,892,626 (GRCm39) I473F possibly damaging Het
Dclk3 A G 9: 111,298,138 (GRCm39) I561V possibly damaging Het
Dock6 A T 9: 21,744,908 (GRCm39) L556H probably damaging Het
Dqx1 G A 6: 83,038,070 (GRCm39) C486Y probably damaging Het
Drd1 T A 13: 54,207,333 (GRCm39) M294L probably benign Het
Dsel A G 1: 111,788,403 (GRCm39) S711P probably damaging Het
Fcho2 A T 13: 98,869,167 (GRCm39) I568N probably damaging Het
Folr1 A G 7: 101,507,810 (GRCm39) M210T probably damaging Het
Gatc T A 5: 115,478,904 (GRCm39) probably null Het
Gja8 A T 3: 96,826,740 (GRCm39) F307L probably benign Het
H1f7 G A 15: 98,154,636 (GRCm39) T171I unknown Het
Hnrnpd C A 5: 100,114,016 (GRCm39) *87L probably null Het
Hpd C T 5: 123,312,532 (GRCm39) R279H possibly damaging Het
Igfals G A 17: 25,099,457 (GRCm39) V183M probably damaging Het
Izumo1 A G 7: 45,276,598 (GRCm39) Y387C probably benign Het
Kdm5a A G 6: 120,375,999 (GRCm39) N585S probably null Het
Marchf2 C A 17: 33,928,762 (GRCm39) G45C probably damaging Het
Myo15a A T 11: 60,370,442 (GRCm39) R1067S probably benign Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Nell1 A G 7: 49,770,411 (GRCm39) S157G probably damaging Het
Nf1 A T 11: 79,437,859 (GRCm39) E2072D probably damaging Het
Nipal1 CGGG CGG 5: 72,825,334 (GRCm39) probably null Het
Nop2 T A 6: 125,114,149 (GRCm39) V205E probably benign Het
Nphs1 G T 7: 30,173,702 (GRCm39) S939I probably damaging Het
Nudt8 T A 19: 4,051,925 (GRCm39) W179R probably damaging Het
Nutm1 A T 2: 112,080,274 (GRCm39) I547N probably benign Het
Oog2 A C 4: 143,922,856 (GRCm39) T374P probably damaging Het
Or4k5 A T 14: 50,385,384 (GRCm39) F316I probably benign Het
Or8b54 C A 9: 38,686,631 (GRCm39) L27I probably damaging Het
Otud4 T A 8: 80,390,722 (GRCm39) M413K probably benign Het
Pear1 A G 3: 87,667,606 (GRCm39) probably benign Het
Plxdc2 A G 2: 16,716,917 (GRCm39) T334A probably benign Het
Ppl G A 16: 4,917,864 (GRCm39) R543W probably damaging Het
Prl5a1 G A 13: 28,333,880 (GRCm39) V128I probably damaging Het
Pth1r A T 9: 110,571,295 (GRCm39) L25Q probably damaging Het
Pth1r T C 9: 110,558,689 (GRCm39) D96G probably benign Het
Rfpl4 G T 7: 5,113,517 (GRCm39) D215E probably damaging Het
Rnf146 T A 10: 29,223,092 (GRCm39) R265* probably null Het
Rpe65 T C 3: 159,312,122 (GRCm39) I207T probably benign Het
Rptn A G 3: 93,305,532 (GRCm39) E955G possibly damaging Het
Rwdd2b A T 16: 87,233,738 (GRCm39) C121S probably damaging Het
Scn10a A G 9: 119,438,340 (GRCm39) I1843T probably damaging Het
Sirt5 A G 13: 43,524,245 (GRCm39) I6V probably benign Het
Slc25a36 A G 9: 96,961,254 (GRCm39) Y261H probably damaging Het
Slc5a3 G A 16: 91,874,383 (GRCm39) A147T probably damaging Het
Stk39 T C 2: 68,240,390 (GRCm39) S114G probably damaging Het
Stxbp1 T C 2: 32,704,979 (GRCm39) probably null Het
Syt3 G T 7: 44,040,106 (GRCm39) G113V probably damaging Het
Tatdn2 A G 6: 113,686,506 (GRCm39) T644A probably damaging Het
Trim9 T A 12: 70,298,791 (GRCm39) probably null Het
Tut1 A G 19: 8,936,719 (GRCm39) N181S probably benign Het
Vill T C 9: 118,895,892 (GRCm39) S151P probably damaging Het
Vmn2r90 A T 17: 17,948,400 (GRCm39) I549F probably damaging Het
Wdfy4 T C 14: 32,801,923 (GRCm39) T1912A possibly damaging Het
Other mutations in Pla2g3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0242:Pla2g3 UTSW 11 3,441,935 (GRCm39) nonsense probably null
R0242:Pla2g3 UTSW 11 3,441,935 (GRCm39) nonsense probably null
R0699:Pla2g3 UTSW 11 3,442,000 (GRCm39) missense probably damaging 1.00
R1959:Pla2g3 UTSW 11 3,440,983 (GRCm39) missense probably benign 0.41
R1961:Pla2g3 UTSW 11 3,440,983 (GRCm39) missense probably benign 0.41
R2393:Pla2g3 UTSW 11 3,443,115 (GRCm39) missense probably benign 0.21
R5151:Pla2g3 UTSW 11 3,440,827 (GRCm39) missense probably benign 0.01
R5322:Pla2g3 UTSW 11 3,438,686 (GRCm39) missense probably benign 0.01
R6018:Pla2g3 UTSW 11 3,441,916 (GRCm39) missense probably damaging 0.99
R7343:Pla2g3 UTSW 11 3,443,022 (GRCm39) missense possibly damaging 0.86
R8781:Pla2g3 UTSW 11 3,438,530 (GRCm39) missense probably benign
R8896:Pla2g3 UTSW 11 3,442,151 (GRCm39) missense probably null 0.52
R9345:Pla2g3 UTSW 11 3,442,170 (GRCm39) missense probably benign 0.02
R9395:Pla2g3 UTSW 11 3,440,952 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TAGGCTCCATTCATTGGCCCTGAC -3'
(R):5'- TGAGACCTTTGACATGCCTCCCAC -3'

Sequencing Primer
(F):5'- TCTGACCAGGCTGGACTAGAG -3'
(R):5'- ATGCCTCCCACTGGCTC -3'
Posted On 2014-01-09