Incidental Mutation 'IGL01432:Pla2g6'
ID84180
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pla2g6
Ensembl Gene ENSMUSG00000042632
Gene Namephospholipase A2, group VI
SynonymsiPLA2beta, iPLA2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01432
Quality Score
Status
Chromosome15
Chromosomal Location79286228-79328390 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) A to T at 79317968 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000133998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047816] [ENSMUST00000166977] [ENSMUST00000172403] [ENSMUST00000172936] [ENSMUST00000173109] [ENSMUST00000173163] [ENSMUST00000173632] [ENSMUST00000174021]
Predicted Effect probably null
Transcript: ENSMUST00000047816
AA Change: M1K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000044234
Gene: ENSMUSG00000042632
AA Change: M1K

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 null
Transcript: ENSMUST00000166977
AA Change: M1K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132071
Gene: ENSMUSG00000042632
AA Change: M1K

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 null
Transcript: ENSMUST00000172403
AA Change: M1K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131081
Gene: ENSMUSG00000042632
AA Change: M1K

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 null
Transcript: ENSMUST00000172936
AA Change: M1K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably null
Transcript: ENSMUST00000173109
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133554
Gene: ENSMUSG00000042632
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 96 109 N/A INTRINSIC
ANK 151 181 2.97e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000173163
AA Change: M1K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134456
Gene: ENSMUSG00000042632
AA Change: M1K

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 noncoding transcript
Transcript: ENSMUST00000173178
Predicted Effect probably null
Transcript: ENSMUST00000173632
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133998
Gene: ENSMUSG00000042632
AA Change: M1K

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 probably null
Transcript: ENSMUST00000174021
AA Change: M1K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134672
Gene: ENSMUSG00000042632
AA Change: M1K

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 noncoding transcript
Transcript: ENSMUST00000174089
Coding Region Coverage
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 37,003,759 V3166E possibly damaging Het
Aldh9a1 T C 1: 167,355,785 S191P probably damaging Het
Aldoart2 A T 12: 55,565,781 I164F probably damaging Het
Anapc1 C A 2: 128,633,408 A1384S probably damaging Het
Arid5a T G 1: 36,319,433 S429A possibly damaging Het
Asxl1 A G 2: 153,400,205 K892E probably benign Het
Bpnt1 G A 1: 185,354,021 W261* probably null Het
Calu A G 6: 29,356,553 D26G possibly damaging Het
Ccdc113 C T 8: 95,538,257 probably benign Het
Cd109 T C 9: 78,698,123 Y1003H probably benign Het
Cdh9 A G 15: 16,830,947 K290R probably damaging Het
Cep131 G A 11: 120,077,009 A140V possibly damaging Het
Chn1 A T 2: 73,631,752 C236S probably damaging Het
Cntn4 T A 6: 106,678,334 probably benign Het
Crispld1 A T 1: 17,746,801 Q194L probably benign Het
Csmd3 A G 15: 47,733,499 V1981A probably damaging Het
Cttn A G 7: 144,461,306 I55T probably damaging Het
Ddx46 G T 13: 55,638,022 probably benign Het
Diaph1 A T 18: 37,897,504 I299N unknown Het
Dll1 A G 17: 15,368,506 Y636H probably damaging Het
Eng A T 2: 32,669,532 Q111L possibly damaging Het
Exoc6 T C 19: 37,589,876 V389A possibly damaging Het
Fbxw26 T A 9: 109,717,975 T461S probably benign Het
Gbf1 T C 19: 46,279,995 Y1269H probably damaging Het
Gm10436 T C 12: 88,176,432 K139E probably benign Het
Gm5852 A G 3: 93,727,779 Y90H possibly damaging Het
Gnrhr C T 5: 86,182,193 G323R probably damaging Het
Gpr155 T A 2: 73,351,885 E661D possibly damaging Het
Grik4 A T 9: 42,521,176 C842S probably damaging Het
Iws1 A G 18: 32,083,466 probably benign Het
Kif5c A G 2: 49,701,077 T314A probably damaging Het
Klhdc1 A C 12: 69,251,977 K112T probably damaging Het
Kmt2a T C 9: 44,809,096 T3865A unknown Het
Lgr5 T C 10: 115,453,092 K477R probably damaging Het
Ly75 A T 2: 60,376,007 L106Q probably damaging Het
Mcph1 T A 8: 18,625,639 M26K probably damaging Het
Mettl2 T C 11: 105,126,522 V9A probably benign Het
Mgat5b A G 11: 116,973,376 D456G probably benign Het
Mstn A G 1: 53,066,530 T344A possibly damaging Het
Npr1 T A 3: 90,463,236 I308F possibly damaging Het
Oasl1 G A 5: 114,937,407 V509M probably benign Het
Obscn T C 11: 59,033,757 M5727V probably benign Het
Olfr1219 T A 2: 89,074,201 I297F probably benign Het
Olfr262 A G 19: 12,241,527 S45P probably damaging Het
Olfr710 T C 7: 106,944,541 I153M possibly damaging Het
Olfr726 T A 14: 50,083,947 T245S probably benign Het
Pcgf1 T C 6: 83,078,417 I11T possibly damaging Het
Phactr3 T C 2: 178,283,100 V276A probably benign Het
Plec T C 15: 76,190,528 E413G probably damaging Het
Plxna2 G T 1: 194,644,318 A187S possibly damaging Het
Polq A T 16: 37,071,822 probably benign Het
Prss39 A G 1: 34,502,135 D240G probably benign Het
Ptpn12 A T 5: 20,998,555 Y408* probably null Het
Ptprt A G 2: 162,268,079 probably benign Het
Rnf6 A T 5: 146,216,121 S95T possibly damaging Het
Ryr2 T C 13: 11,851,204 S287G possibly damaging Het
Samd4b A G 7: 28,414,066 F158S possibly damaging Het
Slco1a5 T A 6: 142,236,286 I571L possibly damaging Het
Smchd1 T C 17: 71,431,290 T527A probably damaging Het
Smg9 T C 7: 24,421,266 probably null Het
Snx25 A G 8: 46,105,160 L270P probably damaging Het
Ssh1 G T 5: 113,958,822 T165N probably benign Het
Stk24 T A 14: 121,302,806 E127V probably damaging Het
Suco A G 1: 161,834,120 V914A probably damaging Het
Tbcd T A 11: 121,475,680 probably benign Het
Tbcel A T 9: 42,444,521 L114Q possibly damaging Het
Trpm1 A G 7: 64,235,019 D816G probably benign Het
Uhrf1 G A 17: 56,318,250 V566M probably damaging Het
Ulk4 T A 9: 121,266,301 E95D probably damaging Het
Vmn1r40 T C 6: 89,714,219 M6T probably benign Het
Vmn2r59 C T 7: 42,012,559 V611I possibly damaging Het
Vwde G T 6: 13,193,240 H367N probably benign Het
Wdr66 A G 5: 123,279,952 I81M possibly damaging Het
Xpo6 A G 7: 126,124,381 V585A probably benign Het
Other mutations in Pla2g6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Pla2g6 APN 15 79289241 missense probably damaging 0.96
IGL00906:Pla2g6 APN 15 79287747 missense probably damaging 1.00
IGL01640:Pla2g6 APN 15 79304313 missense probably benign
IGL01715:Pla2g6 APN 15 79317857 missense probably benign 0.00
IGL01943:Pla2g6 APN 15 79313116 missense probably null 0.00
IGL02551:Pla2g6 APN 15 79299094 missense possibly damaging 0.95
IGL03120:Pla2g6 APN 15 79286860 missense probably damaging 1.00
IGL03193:Pla2g6 APN 15 79317785 missense probably damaging 0.98
IGL03194:Pla2g6 APN 15 79317785 missense probably damaging 0.98
IGL03205:Pla2g6 APN 15 79317785 missense probably damaging 0.98
IGL03289:Pla2g6 APN 15 79317785 missense probably damaging 0.98
R0288:Pla2g6 UTSW 15 79286906 splice site probably benign
R0631:Pla2g6 UTSW 15 79306396 missense probably damaging 1.00
R1216:Pla2g6 UTSW 15 79306435 missense probably benign 0.18
R1617:Pla2g6 UTSW 15 79289141 missense probably benign 0.03
R1785:Pla2g6 UTSW 15 79306345 missense probably benign 0.02
R2025:Pla2g6 UTSW 15 79286764 missense probably damaging 1.00
R2079:Pla2g6 UTSW 15 79312994 missense probably damaging 1.00
R3952:Pla2g6 UTSW 15 79313096 missense probably damaging 1.00
R4774:Pla2g6 UTSW 15 79287618 missense probably damaging 1.00
R4826:Pla2g6 UTSW 15 79308679 missense possibly damaging 0.96
R5093:Pla2g6 UTSW 15 79287128 missense probably benign 0.12
R5327:Pla2g6 UTSW 15 79302637 missense probably benign 0.03
R5390:Pla2g6 UTSW 15 79289693 missense possibly damaging 0.72
R5419:Pla2g6 UTSW 15 79299142 missense possibly damaging 0.82
R5432:Pla2g6 UTSW 15 79302617 critical splice donor site probably null
R5633:Pla2g6 UTSW 15 79299142 missense possibly damaging 0.82
R5829:Pla2g6 UTSW 15 79287693 missense possibly damaging 0.73
R5930:Pla2g6 UTSW 15 79303528 intron probably benign
R6228:Pla2g6 UTSW 15 79305724 missense probably benign 0.00
R6241:Pla2g6 UTSW 15 79304392 missense probably benign 0.02
R6339:Pla2g6 UTSW 15 79308816 missense probably damaging 0.99
R6485:Pla2g6 UTSW 15 79307372 missense probably benign 0.00
R6754:Pla2g6 UTSW 15 79306310 missense probably benign 0.01
R7419:Pla2g6 UTSW 15 79305698 splice site probably null
R7425:Pla2g6 UTSW 15 79308733 missense probably damaging 1.00
R7710:Pla2g6 UTSW 15 79287158 missense probably damaging 0.98
R7738:Pla2g6 UTSW 15 79297433 nonsense probably null
R7768:Pla2g6 UTSW 15 79297314 missense probably damaging 1.00
R7796:Pla2g6 UTSW 15 79317825 missense probably benign 0.32
Posted On2013-11-11