Incidental Mutation 'IGL01432:Pla2g6'
ID 84180
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pla2g6
Ensembl Gene ENSMUSG00000042632
Gene Name phospholipase A2, group VI
Synonyms iPLA2, iPLA2beta
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01432
Quality Score
Status
Chromosome 15
Chromosomal Location 79170428-79212590 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 79202168 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000174021] [ENSMUST00000173632]
AlphaFold P97819
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 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 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 noncoding transcript
Transcript: ENSMUST00000173178
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
Aldh9a1 T C 1: 167,183,354 (GRCm39) S191P probably damaging Het
Aldoart2 A T 12: 55,612,566 (GRCm39) I164F probably damaging Het
Anapc1 C A 2: 128,475,328 (GRCm39) A1384S probably damaging Het
Arid5a T G 1: 36,358,514 (GRCm39) S429A possibly damaging Het
Asxl1 A G 2: 153,242,125 (GRCm39) K892E probably benign Het
Bltp1 T A 3: 37,057,908 (GRCm39) V3166E possibly damaging Het
Bpnt1 G A 1: 185,086,218 (GRCm39) W261* probably null Het
Calu A G 6: 29,356,552 (GRCm39) D26G possibly damaging Het
Ccdc113 C T 8: 96,264,885 (GRCm39) probably benign Het
Cd109 T C 9: 78,605,405 (GRCm39) Y1003H probably benign Het
Cdh9 A G 15: 16,831,033 (GRCm39) K290R probably damaging Het
Cep131 G A 11: 119,967,835 (GRCm39) A140V possibly damaging Het
Cfap251 A G 5: 123,418,015 (GRCm39) I81M possibly damaging Het
Chn1 A T 2: 73,462,096 (GRCm39) C236S probably damaging Het
Cntn4 T A 6: 106,655,295 (GRCm39) probably benign Het
Crispld1 A T 1: 17,817,025 (GRCm39) Q194L probably benign Het
Csmd3 A G 15: 47,596,895 (GRCm39) V1981A probably damaging Het
Cttn A G 7: 144,015,043 (GRCm39) I55T probably damaging Het
Ddx46 G T 13: 55,785,835 (GRCm39) probably benign Het
Diaph1 A T 18: 38,030,557 (GRCm39) I299N unknown Het
Dll1 A G 17: 15,588,768 (GRCm39) Y636H probably damaging Het
Eng A T 2: 32,559,544 (GRCm39) Q111L possibly damaging Het
Exoc6 T C 19: 37,578,324 (GRCm39) V389A possibly damaging Het
Fbxw26 T A 9: 109,547,043 (GRCm39) T461S probably benign Het
Gbf1 T C 19: 46,268,434 (GRCm39) Y1269H probably damaging Het
Gm5852 A G 3: 93,635,086 (GRCm39) Y90H possibly damaging Het
Gnrhr C T 5: 86,330,052 (GRCm39) G323R probably damaging Het
Gpr155 T A 2: 73,182,229 (GRCm39) E661D possibly damaging Het
Grik4 A T 9: 42,432,472 (GRCm39) C842S probably damaging Het
Iws1 A G 18: 32,216,519 (GRCm39) probably benign Het
Kif5c A G 2: 49,591,089 (GRCm39) T314A probably damaging Het
Klhdc1 A C 12: 69,298,751 (GRCm39) K112T probably damaging Het
Kmt2a T C 9: 44,720,393 (GRCm39) T3865A unknown Het
Lgr5 T C 10: 115,288,997 (GRCm39) K477R probably damaging Het
Ly75 A T 2: 60,206,351 (GRCm39) L106Q probably damaging Het
Mcph1 T A 8: 18,675,655 (GRCm39) M26K probably damaging Het
Mettl2 T C 11: 105,017,348 (GRCm39) V9A probably benign Het
Mgat5b A G 11: 116,864,202 (GRCm39) D456G probably benign Het
Mstn A G 1: 53,105,689 (GRCm39) T344A possibly damaging Het
Npr1 T A 3: 90,370,543 (GRCm39) I308F possibly damaging Het
Oasl1 G A 5: 115,075,466 (GRCm39) V509M probably benign Het
Obscn T C 11: 58,924,583 (GRCm39) M5727V probably benign Het
Or2d4 T C 7: 106,543,748 (GRCm39) I153M possibly damaging Het
Or4c114 T A 2: 88,904,545 (GRCm39) I297F probably benign Het
Or4k15c T A 14: 50,321,404 (GRCm39) T245S probably benign Het
Or5an1c A G 19: 12,218,891 (GRCm39) S45P probably damaging Het
Pcgf1 T C 6: 83,055,398 (GRCm39) I11T possibly damaging Het
Phactr3 T C 2: 177,924,893 (GRCm39) V276A probably benign Het
Plec T C 15: 76,074,728 (GRCm39) E413G probably damaging Het
Plxna2 G T 1: 194,326,626 (GRCm39) A187S possibly damaging Het
Polq A T 16: 36,892,184 (GRCm39) probably benign Het
Pramel51 T C 12: 88,143,202 (GRCm39) K139E probably benign Het
Prss39 A G 1: 34,541,216 (GRCm39) D240G probably benign Het
Ptpn12 A T 5: 21,203,553 (GRCm39) Y408* probably null Het
Ptprt A G 2: 162,109,999 (GRCm39) probably benign Het
Rnf6 A T 5: 146,152,931 (GRCm39) S95T possibly damaging Het
Ryr2 T C 13: 11,866,090 (GRCm39) S287G possibly damaging Het
Samd4b A G 7: 28,113,491 (GRCm39) F158S possibly damaging Het
Slco1a5 T A 6: 142,182,012 (GRCm39) I571L possibly damaging Het
Smchd1 T C 17: 71,738,285 (GRCm39) T527A probably damaging Het
Smg9 T C 7: 24,120,691 (GRCm39) probably null Het
Snx25 A G 8: 46,558,197 (GRCm39) L270P probably damaging Het
Ssh1 G T 5: 114,096,883 (GRCm39) T165N probably benign Het
Stk24 T A 14: 121,540,218 (GRCm39) E127V probably damaging Het
Suco A G 1: 161,661,689 (GRCm39) V914A probably damaging Het
Tbcd T A 11: 121,366,506 (GRCm39) probably benign Het
Tbcel A T 9: 42,355,817 (GRCm39) L114Q possibly damaging Het
Trpm1 A G 7: 63,884,767 (GRCm39) D816G probably benign Het
Uhrf1 G A 17: 56,625,250 (GRCm39) V566M probably damaging Het
Ulk4 T A 9: 121,095,367 (GRCm39) E95D probably damaging Het
Vmn1r40 T C 6: 89,691,201 (GRCm39) M6T probably benign Het
Vmn2r59 C T 7: 41,661,983 (GRCm39) V611I possibly damaging Het
Vwde G T 6: 13,193,239 (GRCm39) H367N probably benign Het
Xpo6 A G 7: 125,723,553 (GRCm39) V585A probably benign 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
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
R2079:Pla2g6 UTSW 15 79,197,194 (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
Posted On 2013-11-11