Incidental Mutation 'R3770:Pla2g5'
ID 273207
Institutional Source Beutler Lab
Gene Symbol Pla2g5
Ensembl Gene ENSMUSG00000041193
Gene Name phospholipase A2, group V
Synonyms sPLA2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R3770 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 138526558-138590780 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 138528746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 70 (C70S)
Ref Sequence ENSEMBL: ENSMUSP00000099571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030524] [ENSMUST00000102511] [ENSMUST00000102512] [ENSMUST00000102513]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000030524
AA Change: C70S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030524
Gene: ENSMUSG00000041193
AA Change: C70S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PA2c 21 137 1.16e-52 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102511
AA Change: C70S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099569
Gene: ENSMUSG00000041193
AA Change: C70S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PA2c 21 137 1.16e-52 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102512
AA Change: C70S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099570
Gene: ENSMUSG00000041193
AA Change: C70S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PA2c 21 137 1.16e-52 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102513
AA Change: C70S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099571
Gene: ENSMUSG00000041193
AA Change: C70S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PA2c 21 137 1.16e-52 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127183
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136393
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154844
Meta Mutation Damage Score 0.9545 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the secretory phospholipase A2 family. It is located in a tightly-linked cluster of secretory phospholipase A2 genes on chromosome 1. The encoded enzyme catalyzes the hydrolysis of membrane phospholipids to generate lysophospholipids and free fatty acids including arachidonic acid. It preferentially hydrolyzes linoleoyl-containing phosphatidylcholine substrates. Secretion of this enzyme is thought to induce inflammatory responses in neighboring cells. Alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display reduced acute zymosan-induced peritonitis and arachadonic acid metabolite release from stimulated peritoneal macrophages. Mice homozygous for a different knock-out allele exhibit reduced response to myocardial ischemia/reperfusion injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox1 T C 11: 116,065,213 (GRCm39) D578G probably damaging Het
Adgrb1 T A 15: 74,460,157 (GRCm39) I543N probably damaging Het
Agbl1 T C 7: 76,075,677 (GRCm39) probably null Het
Ano1 A G 7: 144,149,306 (GRCm39) Y852H probably damaging Het
Apol9a G C 15: 77,288,596 (GRCm39) T257S probably benign Het
Arhgap23 A T 11: 97,366,932 (GRCm39) D1071V probably damaging Het
Atp1a1 T C 3: 101,488,510 (GRCm39) D842G probably benign Het
Brd7 A T 8: 89,066,035 (GRCm39) probably null Het
Btbd7 G A 12: 102,761,451 (GRCm39) P578L probably damaging Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Cfap54 C T 10: 92,714,398 (GRCm39) M2660I unknown Het
Dock7 T C 4: 98,859,066 (GRCm39) T1409A probably benign Het
Exoc3l4 A G 12: 111,391,989 (GRCm39) D410G probably benign Het
Foxk2 CGGGGGG CGGGGGGGGG 11: 121,151,317 (GRCm39) probably benign Het
Herc2 A G 7: 55,814,755 (GRCm39) I2703V probably benign Het
Ifna7 T C 4: 88,734,964 (GRCm39) V167A probably damaging Het
Iqcg G A 16: 32,870,378 (GRCm39) silent Het
Klf3 A G 5: 64,984,560 (GRCm39) probably null Het
Krtap12-1 G T 10: 77,556,729 (GRCm39) V91L probably benign Het
Lipo5 G T 19: 33,445,200 (GRCm39) T123N unknown Het
Macf1 A G 4: 123,268,560 (GRCm39) S4689P probably damaging Het
Map3k5 T A 10: 19,900,765 (GRCm39) V313D probably damaging Het
Mypn C A 10: 62,961,486 (GRCm39) L1035F possibly damaging Het
Neurl1a T C 19: 47,228,328 (GRCm39) L58P probably damaging Het
Or5aq1 C T 2: 86,966,158 (GRCm39) C169Y probably damaging Het
Pole4 G A 6: 82,599,095 (GRCm39) R119C possibly damaging Het
Ppm1h G T 10: 122,740,027 (GRCm39) L367F probably damaging Het
Ptpru C T 4: 131,535,735 (GRCm39) C414Y probably damaging Het
Rasal3 A T 17: 32,611,125 (GRCm39) L912Q probably damaging Het
Reln C T 5: 22,153,564 (GRCm39) V2247M probably damaging Het
Rhot2 T C 17: 26,059,521 (GRCm39) D407G probably benign Het
Rreb1 C T 13: 38,113,579 (GRCm39) R313W possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scn11a T A 9: 119,613,115 (GRCm39) D825V probably damaging Het
Slc12a3 A G 8: 95,079,668 (GRCm39) H832R probably benign Het
Slc27a2 A G 2: 126,409,718 (GRCm39) D300G possibly damaging Het
Sos1 A G 17: 80,705,737 (GRCm39) V1278A probably damaging Het
Sstr3 C A 15: 78,424,577 (GRCm39) V57L probably damaging Het
Tex2 T A 11: 106,435,078 (GRCm39) R783W unknown Het
Tjp2 A T 19: 24,078,190 (GRCm39) I901N probably benign Het
Top1 A T 2: 160,563,442 (GRCm39) I758F probably damaging Het
Trim41 T C 11: 48,699,911 (GRCm39) E98G possibly damaging Het
Vmn2r65 A T 7: 84,589,623 (GRCm39) N764K probably damaging Het
Vmn2r81 A T 10: 79,106,434 (GRCm39) I471F probably damaging Het
Wdr25 G A 12: 108,864,346 (GRCm39) V164M probably damaging Het
Zdhhc13 T A 7: 48,452,692 (GRCm39) L5M probably damaging Het
Zfp747l1 A G 7: 126,984,035 (GRCm39) probably benign Het
Other mutations in Pla2g5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03304:Pla2g5 APN 4 138,531,880 (GRCm39) nonsense probably null
R0278:Pla2g5 UTSW 4 138,527,967 (GRCm39) missense probably benign 0.40
R0323:Pla2g5 UTSW 4 138,527,967 (GRCm39) missense probably benign 0.40
R0325:Pla2g5 UTSW 4 138,527,967 (GRCm39) missense probably benign 0.40
R3767:Pla2g5 UTSW 4 138,528,746 (GRCm39) missense probably damaging 1.00
R3768:Pla2g5 UTSW 4 138,528,746 (GRCm39) missense probably damaging 1.00
R3769:Pla2g5 UTSW 4 138,528,746 (GRCm39) missense probably damaging 1.00
R5620:Pla2g5 UTSW 4 138,531,921 (GRCm39) missense possibly damaging 0.83
R6776:Pla2g5 UTSW 4 138,527,964 (GRCm39) missense probably benign 0.00
R7065:Pla2g5 UTSW 4 138,527,915 (GRCm39) missense probably damaging 1.00
R7097:Pla2g5 UTSW 4 138,531,830 (GRCm39) missense probably damaging 1.00
R7122:Pla2g5 UTSW 4 138,531,830 (GRCm39) missense probably damaging 1.00
R7829:Pla2g5 UTSW 4 138,531,845 (GRCm39) missense probably benign 0.26
R8293:Pla2g5 UTSW 4 138,531,917 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTGAGTCTCAACTGGGACTTC -3'
(R):5'- AGCTTTAACATCCAAGCACAGTG -3'

Sequencing Primer
(F):5'- CCCTTTCCTGGAAGTCTAAAGAGG -3'
(R):5'- AGTGTCCCCAAGGTACCATTG -3'
Posted On 2015-03-25