Incidental Mutation 'R7710:Pla2g6'
ID 594568
Institutional Source Beutler Lab
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 # R7710 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 79170428-79212590 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79171358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 744 (V744E)
Ref Sequence ENSEMBL: ENSMUSP00000134672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047816] [ENSMUST00000165408] [ENSMUST00000166977] [ENSMUST00000170955] [ENSMUST00000172403] [ENSMUST00000173163] [ENSMUST00000174021]
AlphaFold P97819
Predicted Effect probably damaging
Transcript: ENSMUST00000047816
AA Change: V689E

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044234
Gene: ENSMUSG00000042632
AA Change: V689E

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: ENSMUST00000165408
SMART Domains Protein: ENSMUSP00000127816
Gene: ENSMUSG00000018126

DomainStartEndE-ValueType
Pfam:IMD 16 226 1e-90 PFAM
low complexity region 232 244 N/A INTRINSIC
SH3 327 386 2.54e-9 SMART
low complexity region 389 409 N/A INTRINSIC
low complexity region 443 472 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166977
AA Change: V689E

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132071
Gene: ENSMUSG00000042632
AA Change: V689E

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: ENSMUST00000170955
SMART Domains Protein: ENSMUSP00000125946
Gene: ENSMUSG00000018126

DomainStartEndE-ValueType
Pfam:IMD 16 211 1.4e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172403
AA Change: V689E

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131081
Gene: ENSMUSG00000042632
AA Change: V689E

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: ENSMUST00000173163
AA Change: V689E

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134456
Gene: ENSMUSG00000042632
AA Change: V689E

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: V744E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134672
Gene: ENSMUSG00000042632
AA Change: V744E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,150,810 (GRCm39) E151K Het
Ap3b1 T C 13: 94,587,581 (GRCm39) S452P probably damaging Het
Cacna2d4 A G 6: 119,251,200 (GRCm39) I463V probably benign Het
Calhm4 A T 10: 33,920,045 (GRCm39) M74K possibly damaging Het
Ccdc142 T C 6: 83,078,677 (GRCm39) S5P probably benign Het
Cd300ld C T 11: 114,875,038 (GRCm39) V199M probably damaging Het
Cep162 T C 9: 87,114,172 (GRCm39) Y300C probably damaging Het
Ces2h C T 8: 105,727,497 (GRCm39) Q5* probably null Het
Col9a3 C T 2: 180,251,158 (GRCm39) L310F probably damaging Het
Copa A G 1: 171,937,411 (GRCm39) D454G possibly damaging Het
Ctnnbip1 A C 4: 149,630,277 (GRCm39) M29L probably benign Het
Ctnnbl1 A G 2: 157,616,491 (GRCm39) D64G probably benign Het
Dcxr T A 11: 120,617,908 (GRCm39) T23S probably benign Het
Dennd1b T A 1: 138,990,670 (GRCm39) H211Q probably damaging Het
Ercc8 G A 13: 108,320,397 (GRCm39) A328T probably benign Het
Fam217a T C 13: 35,095,111 (GRCm39) D216G possibly damaging Het
Fat2 T A 11: 55,201,589 (GRCm39) Y495F probably benign Het
Fbxw13 G A 9: 109,024,968 (GRCm39) S15F probably damaging Het
Fras1 T A 5: 96,792,962 (GRCm39) C964* probably null Het
Fshr T A 17: 89,292,683 (GRCm39) H665L probably benign Het
Gm10447 A T 11: 53,347,437 (GRCm39) C31S unknown Het
Gm13272 A T 4: 88,698,586 (GRCm39) Q167L probably benign Het
Gtpbp2 T C 17: 46,478,713 (GRCm39) I510T possibly damaging Het
Hps6 G A 19: 45,993,007 (GRCm39) A315T probably benign Het
Igfbp6 A C 15: 102,056,285 (GRCm39) T115P probably damaging Het
Ikzf4 A G 10: 128,468,610 (GRCm39) V623A possibly damaging Het
Il11ra1 T C 4: 41,764,846 (GRCm39) V100A probably benign Het
Ints1 T C 5: 139,756,840 (GRCm39) T493A probably benign Het
Itgax C T 7: 127,735,028 (GRCm39) T453I probably benign Het
Kras T C 6: 145,166,354 (GRCm39) T183A probably benign Het
Lhcgr T C 17: 89,050,210 (GRCm39) T439A probably damaging Het
Lrrn4 T C 2: 132,721,451 (GRCm39) H122R probably benign Het
Muc2 A T 7: 141,287,452 (GRCm39) R210S possibly damaging Het
Myh7 C G 14: 55,226,258 (GRCm39) D461H probably damaging Het
Myo18b T C 5: 113,022,891 (GRCm39) D167G unknown Het
Nedd8 G A 14: 55,909,446 (GRCm39) probably benign Het
Or5b94 A C 19: 12,652,340 (GRCm39) Y257S probably damaging Het
Pars2 T A 4: 106,511,276 (GRCm39) Y353N probably damaging Het
Pbxip1 T A 3: 89,355,408 (GRCm39) D642E probably damaging Het
Pcdhb10 A T 18: 37,546,654 (GRCm39) R577* probably null Het
Pcna-ps2 T A 19: 9,261,489 (GRCm39) Y249* probably null Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Ppfibp1 A G 6: 146,897,903 (GRCm39) I207V probably benign Het
Prr11 T C 11: 86,994,433 (GRCm39) D71G probably benign Het
Rnf150 A C 8: 83,590,781 (GRCm39) Y48S probably damaging Het
Rsf1 G A 7: 97,331,041 (GRCm39) G1237D Het
Rusc2 C T 4: 43,416,119 (GRCm39) T475I probably benign Het
Scgb1b20 T A 7: 33,072,867 (GRCm39) I25N probably damaging Het
Sdr39u1 T C 14: 56,137,116 (GRCm39) N65S probably benign Het
Sh3gl3 T C 7: 81,933,294 (GRCm39) V219A possibly damaging Het
Shcbp1 A G 8: 4,814,965 (GRCm39) F171S probably benign Het
Shq1 A G 6: 100,648,006 (GRCm39) F6S probably damaging Het
Slc12a4 C T 8: 106,672,203 (GRCm39) R868H possibly damaging Het
Smg6 T C 11: 74,821,445 (GRCm39) V572A probably benign Het
Syn3 A G 10: 86,243,534 (GRCm39) V135A probably damaging Het
Tars3 A T 7: 65,314,717 (GRCm39) D425V probably benign Het
Tmem253 A T 14: 52,254,608 (GRCm39) Q21L possibly damaging Het
Trpm3 G T 19: 22,896,154 (GRCm39) R997L probably damaging Het
Ubr5 G A 15: 37,980,076 (GRCm39) A2434V probably null Het
Ugt1a9 A G 1: 87,998,831 (GRCm39) T94A probably benign Het
Vmn1r62 A G 7: 5,678,182 (GRCm39) probably benign Het
Vmn2r61 T C 7: 41,916,472 (GRCm39) C362R probably damaging Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (GRCm39) probably benign Het
Zfp94 T C 7: 24,003,107 (GRCm39) K112E probably benign Het
Zfp954 A T 7: 7,120,889 (GRCm39) V47E 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
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
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'- ACACCAGCCTGGATGTGAAC -3'
(R):5'- CTAGATGGACTCTGCACAGC -3'

Sequencing Primer
(F):5'- CGGAAGACCACATCAATGGCTG -3'
(R):5'- TAGATGGACTCTGCACAGCTAGTC -3'
Posted On 2019-11-12