Incidental Mutation 'R2079:Pla2g6'
ID 229382
Institutional Source Beutler Lab
Gene Symbol Pla2g6
Ensembl Gene ENSMUSG00000042632
Gene Name phospholipase A2, group VI
Synonyms iPLA2, iPLA2beta
MMRRC Submission 040084-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2079 (G1)
Quality Score 175
Status Not validated
Chromosome 15
Chromosomal Location 79170428-79212590 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79197194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 127 (V127M)
Ref Sequence ENSEMBL: ENSMUSP00000134672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047816] [ENSMUST00000166977] [ENSMUST00000172403] [ENSMUST00000172936] [ENSMUST00000173109] [ENSMUST00000173163] [ENSMUST00000174021] [ENSMUST00000173632]
AlphaFold P97819
Predicted Effect probably damaging
Transcript: ENSMUST00000047816
AA Change: V127M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044234
Gene: ENSMUSG00000042632
AA Change: V127M

DomainStartEndE-ValueType
low complexity region 96 109 N/A INTRINSIC
ANK 151 181 2.97e-3 SMART
ANK 185 215 4.6e0 SMART
ANK 219 248 3.23e-4 SMART
ANK 286 312 1.52e0 SMART
ANK 316 345 6.46e-4 SMART
ANK 349 378 2.02e-5 SMART
Pfam:Patatin 427 611 6.7e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166977
AA Change: V127M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132071
Gene: ENSMUSG00000042632
AA Change: V127M

DomainStartEndE-ValueType
low complexity region 96 109 N/A INTRINSIC
ANK 151 181 2.97e-3 SMART
ANK 185 215 4.6e0 SMART
ANK 219 248 3.23e-4 SMART
ANK 286 312 1.52e0 SMART
ANK 316 345 6.46e-4 SMART
ANK 349 378 2.02e-5 SMART
Pfam:Patatin 427 611 6.7e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172403
AA Change: V127M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131081
Gene: ENSMUSG00000042632
AA Change: V127M

DomainStartEndE-ValueType
low complexity region 96 109 N/A INTRINSIC
ANK 151 181 2.97e-3 SMART
ANK 185 215 4.6e0 SMART
ANK 219 248 3.23e-4 SMART
ANK 286 312 1.52e0 SMART
ANK 316 345 6.46e-4 SMART
ANK 349 378 2.02e-5 SMART
Pfam:Patatin 427 611 6.7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172936
Predicted Effect probably damaging
Transcript: ENSMUST00000173109
AA Change: V127M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133554
Gene: ENSMUSG00000042632
AA Change: V127M

DomainStartEndE-ValueType
low complexity region 96 109 N/A INTRINSIC
ANK 151 181 2.97e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000173163
AA Change: V127M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134456
Gene: ENSMUSG00000042632
AA Change: V127M

DomainStartEndE-ValueType
low complexity region 96 109 N/A INTRINSIC
ANK 151 181 2.97e-3 SMART
ANK 185 215 4.6e0 SMART
ANK 219 248 3.23e-4 SMART
ANK 286 312 1.52e0 SMART
ANK 316 345 6.46e-4 SMART
ANK 349 378 2.02e-5 SMART
Pfam:Patatin 427 611 6.7e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174021
AA Change: V127M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134672
Gene: ENSMUSG00000042632
AA Change: V127M

DomainStartEndE-ValueType
low complexity region 96 109 N/A INTRINSIC
ANK 151 181 2.97e-3 SMART
ANK 185 215 4.6e0 SMART
ANK 219 248 3.23e-4 SMART
ANK 286 312 1.52e0 SMART
ANK 316 345 6.46e-4 SMART
ANK 349 378 2.02e-5 SMART
Blast:ANK 382 411 2e-8 BLAST
Pfam:Patatin 482 666 2.9e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173632
AA Change: V127M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133998
Gene: ENSMUSG00000042632
AA Change: V127M

DomainStartEndE-ValueType
low complexity region 96 109 N/A INTRINSIC
ANK 151 181 2.97e-3 SMART
Blast:ANK 185 204 7e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173178
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174089
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173601
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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 is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mice display impaired male fertility and asthenozoospermia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 A T 13: 104,598,746 (GRCm39) R862S probably benign Het
Aldoa T C 7: 126,396,076 (GRCm39) D164G probably null Het
Ankle2 T C 5: 110,392,371 (GRCm39) V459A probably damaging Het
Atp11a A G 8: 12,907,902 (GRCm39) Y482C probably damaging Het
BC035947 A G 1: 78,488,561 (GRCm39) probably benign Het
Cfap65 G A 1: 74,956,358 (GRCm39) R1074C probably benign Het
Ciart G T 3: 95,786,350 (GRCm39) H242N probably damaging Het
Cidec T A 6: 113,402,615 (GRCm39) M220L probably benign Het
Clca3a1 A G 3: 144,713,534 (GRCm39) I699T possibly damaging Het
Csf2rb2 T C 15: 78,172,207 (GRCm39) D401G probably benign Het
Cyp2j6 C A 4: 96,419,962 (GRCm39) L256F possibly damaging Het
Ddr2 A T 1: 169,832,345 (GRCm39) Y148* probably null Het
Depdc5 T A 5: 33,104,018 (GRCm39) I373N possibly damaging Het
Dpp10 A T 1: 123,360,721 (GRCm39) M268K probably damaging Het
Fam118b C A 9: 35,134,960 (GRCm39) V216F possibly damaging Het
Fancd2 T C 6: 113,532,148 (GRCm39) V487A probably damaging Het
Fhad1 T A 4: 141,718,513 (GRCm39) R147* probably null Het
Flt3 A G 5: 147,291,893 (GRCm39) S544P probably damaging Het
Frem3 C A 8: 81,341,732 (GRCm39) Q1342K probably benign Het
Garin3 T G 11: 46,295,934 (GRCm39) V102G probably benign Het
Gimap4 T C 6: 48,667,881 (GRCm39) M84T possibly damaging Het
Gm20481 T C 17: 35,189,196 (GRCm39) K569R probably benign Het
Gm4871 A C 5: 144,966,741 (GRCm39) D247E possibly damaging Het
Gm5141 A T 13: 62,922,424 (GRCm39) N248K probably benign Het
Gulo A G 14: 66,227,832 (GRCm39) Y367H probably damaging Het
Hap1 T C 11: 100,244,572 (GRCm39) E120G probably damaging Het
Heatr3 T A 8: 88,868,404 (GRCm39) N51K probably damaging Het
Hipk2 T C 6: 38,795,720 (GRCm39) D183G probably damaging Het
Hnrnpll T A 17: 80,342,806 (GRCm39) T439S probably benign Het
Hoxd3 A C 2: 74,574,610 (GRCm39) E85D probably damaging Het
Ipo8 A T 6: 148,690,660 (GRCm39) M694K probably damaging Het
Jag2 A G 12: 112,883,997 (GRCm39) I194T probably damaging Het
Jrkl A T 9: 13,244,864 (GRCm39) F266I probably damaging Het
Kcnt1 A G 2: 25,790,260 (GRCm39) I436V possibly damaging Het
Kdm3b A T 18: 34,936,570 (GRCm39) D284V probably damaging Het
Khdrbs2 A G 1: 32,506,955 (GRCm39) T200A probably benign Het
Kmt2c T C 5: 25,557,278 (GRCm39) D1143G possibly damaging Het
Kremen1 G GGGGT 11: 5,151,794 (GRCm39) probably null Het
Lama2 A C 10: 27,245,049 (GRCm39) I244S probably damaging Het
Lama5 G A 2: 179,867,301 (GRCm39) P99S possibly damaging Het
Lrrc30 A T 17: 67,938,875 (GRCm39) L235Q possibly damaging Het
Man2b2 C T 5: 36,971,716 (GRCm39) V667M possibly damaging Het
Mmp2 T A 8: 93,576,817 (GRCm39) N77K probably damaging Het
Myo1a A G 10: 127,556,482 (GRCm39) E1009G probably benign Het
Ndst1 A G 18: 60,828,581 (GRCm39) Y658H probably damaging Het
Nlrp10 A G 7: 108,524,835 (GRCm39) L215P possibly damaging Het
Nrbp1 T C 5: 31,408,417 (GRCm39) F526L probably benign Het
Or10p21 T C 10: 128,847,898 (GRCm39) V248A probably damaging Het
Or51t4 T A 7: 102,598,702 (GRCm39) F333L probably benign Het
Padi2 T C 4: 140,660,507 (GRCm39) L329P probably damaging Het
Pcdhb20 A G 18: 37,638,224 (GRCm39) Q250R probably benign Het
Pcdhb3 T A 18: 37,436,362 (GRCm39) L776Q possibly damaging Het
Pik3cb A T 9: 98,942,257 (GRCm39) M700K probably benign Het
Rabgef1 T C 5: 130,219,776 (GRCm39) S80P probably damaging Het
Sema3a C T 5: 13,501,098 (GRCm39) T47I possibly damaging Het
Sik2 C T 9: 50,818,706 (GRCm39) probably null Het
Sin3a T C 9: 56,996,807 (GRCm39) V112A probably benign Het
Slc26a6 G A 9: 108,736,257 (GRCm39) A472T probably damaging Het
Syne1 A G 10: 5,311,502 (GRCm39) V561A probably benign Het
Syt16 C T 12: 74,285,073 (GRCm39) T422I probably damaging Het
Tlr11 A T 14: 50,598,437 (GRCm39) H141L probably damaging Het
Tmem252 A T 19: 24,655,017 (GRCm39) E131D probably benign Het
Trim55 T G 3: 19,698,830 (GRCm39) L20V probably damaging Het
Uqcrfs1 A T 13: 30,725,291 (GRCm39) V83D probably benign Het
Utf1 C T 7: 139,524,808 (GRCm39) R309* probably null Het
Uxs1 T C 1: 43,804,133 (GRCm39) T261A probably damaging Het
Vmn1r24 T C 6: 57,932,655 (GRCm39) I288V probably benign Het
Vmn1r80 A T 7: 11,927,121 (GRCm39) D77V probably damaging Het
Vmn2r74 T G 7: 85,606,383 (GRCm39) H321P probably benign Het
Zfp638 T C 6: 83,930,371 (GRCm39) probably null Het
Zwilch T A 9: 64,060,856 (GRCm39) Q332L probably damaging Het
Zwilch G T 9: 64,060,857 (GRCm39) Q332K probably damaging Het
Other mutations in Pla2g6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Pla2g6 APN 15 79,173,441 (GRCm39) missense probably damaging 0.96
IGL00906:Pla2g6 APN 15 79,171,947 (GRCm39) missense probably damaging 1.00
IGL01432:Pla2g6 APN 15 79,202,168 (GRCm39) start codon destroyed probably null 1.00
IGL01640:Pla2g6 APN 15 79,188,513 (GRCm39) missense probably benign
IGL01715:Pla2g6 APN 15 79,202,057 (GRCm39) missense probably benign 0.00
IGL01943:Pla2g6 APN 15 79,197,316 (GRCm39) missense probably null 0.00
IGL02551:Pla2g6 APN 15 79,183,294 (GRCm39) missense possibly damaging 0.95
IGL03120:Pla2g6 APN 15 79,171,060 (GRCm39) missense probably damaging 1.00
IGL03193:Pla2g6 APN 15 79,201,985 (GRCm39) missense probably damaging 0.98
IGL03194:Pla2g6 APN 15 79,201,985 (GRCm39) missense probably damaging 0.98
IGL03205:Pla2g6 APN 15 79,201,985 (GRCm39) missense probably damaging 0.98
IGL03289:Pla2g6 APN 15 79,201,985 (GRCm39) missense probably damaging 0.98
R0288:Pla2g6 UTSW 15 79,171,106 (GRCm39) splice site probably benign
R0631:Pla2g6 UTSW 15 79,190,596 (GRCm39) missense probably damaging 1.00
R1216:Pla2g6 UTSW 15 79,190,635 (GRCm39) missense probably benign 0.18
R1617:Pla2g6 UTSW 15 79,173,341 (GRCm39) missense probably benign 0.03
R1785:Pla2g6 UTSW 15 79,190,545 (GRCm39) missense probably benign 0.02
R2025:Pla2g6 UTSW 15 79,170,964 (GRCm39) missense probably damaging 1.00
R3952:Pla2g6 UTSW 15 79,197,296 (GRCm39) missense probably damaging 1.00
R4774:Pla2g6 UTSW 15 79,171,818 (GRCm39) missense probably damaging 1.00
R4826:Pla2g6 UTSW 15 79,192,879 (GRCm39) missense possibly damaging 0.96
R5093:Pla2g6 UTSW 15 79,171,328 (GRCm39) missense probably benign 0.12
R5327:Pla2g6 UTSW 15 79,186,837 (GRCm39) missense probably benign 0.03
R5390:Pla2g6 UTSW 15 79,173,893 (GRCm39) missense possibly damaging 0.72
R5419:Pla2g6 UTSW 15 79,183,342 (GRCm39) missense possibly damaging 0.82
R5432:Pla2g6 UTSW 15 79,186,817 (GRCm39) critical splice donor site probably null
R5633:Pla2g6 UTSW 15 79,183,342 (GRCm39) missense possibly damaging 0.82
R5829:Pla2g6 UTSW 15 79,171,893 (GRCm39) missense possibly damaging 0.73
R5930:Pla2g6 UTSW 15 79,187,728 (GRCm39) intron probably benign
R6228:Pla2g6 UTSW 15 79,189,924 (GRCm39) missense probably benign 0.00
R6241:Pla2g6 UTSW 15 79,188,592 (GRCm39) missense probably benign 0.02
R6339:Pla2g6 UTSW 15 79,193,016 (GRCm39) missense probably damaging 0.99
R6485:Pla2g6 UTSW 15 79,191,572 (GRCm39) missense probably benign 0.00
R6754:Pla2g6 UTSW 15 79,190,510 (GRCm39) missense probably benign 0.01
R7419:Pla2g6 UTSW 15 79,189,898 (GRCm39) splice site probably null
R7425:Pla2g6 UTSW 15 79,192,933 (GRCm39) missense probably damaging 1.00
R7710:Pla2g6 UTSW 15 79,171,358 (GRCm39) missense probably damaging 0.98
R7738:Pla2g6 UTSW 15 79,181,633 (GRCm39) nonsense probably null
R7768:Pla2g6 UTSW 15 79,181,514 (GRCm39) missense probably damaging 1.00
R7796:Pla2g6 UTSW 15 79,202,025 (GRCm39) missense probably benign 0.32
R8184:Pla2g6 UTSW 15 79,171,322 (GRCm39) missense probably benign 0.02
R8359:Pla2g6 UTSW 15 79,171,370 (GRCm39) missense probably damaging 0.98
R9105:Pla2g6 UTSW 15 79,183,397 (GRCm39) critical splice acceptor site probably null
R9280:Pla2g6 UTSW 15 79,197,314 (GRCm39) missense probably benign 0.09
R9471:Pla2g6 UTSW 15 79,202,039 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGCCATGGCAACGCTATTC -3'
(R):5'- GCTCTTCCAACTGGAGTCTGAG -3'

Sequencing Primer
(F):5'- AGCCATGGCAACGCTATTCTTTTC -3'
(R):5'- GGTGAACTTCCAGCAGTT -3'
Posted On 2014-09-17