Incidental Mutation 'R5432:Pla2g6'
ID 428119
Institutional Source Beutler Lab
Gene Symbol Pla2g6
Ensembl Gene ENSMUSG00000042632
Gene Name phospholipase A2, group VI
Synonyms iPLA2, iPLA2beta
MMRRC Submission 042997-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5432 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 79170428-79212590 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 79186817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047816] [ENSMUST00000047816] [ENSMUST00000166977] [ENSMUST00000166977] [ENSMUST00000172403] [ENSMUST00000172403] [ENSMUST00000173163] [ENSMUST00000173163] [ENSMUST00000173163] [ENSMUST00000173163] [ENSMUST00000174021] [ENSMUST00000174021]
AlphaFold P97819
Predicted Effect probably null
Transcript: ENSMUST00000047816
SMART Domains Protein: ENSMUSP00000044234
Gene: ENSMUSG00000042632

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: ENSMUST00000047816
SMART Domains Protein: ENSMUSP00000044234
Gene: ENSMUSG00000042632

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
SMART Domains Protein: ENSMUSP00000132071
Gene: ENSMUSG00000042632

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
SMART Domains Protein: ENSMUSP00000132071
Gene: ENSMUSG00000042632

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
SMART Domains Protein: ENSMUSP00000131081
Gene: ENSMUSG00000042632

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
SMART Domains Protein: ENSMUSP00000131081
Gene: ENSMUSG00000042632

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: ENSMUST00000173163
SMART Domains Protein: ENSMUSP00000134456
Gene: ENSMUSG00000042632

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: ENSMUST00000173163
SMART Domains Protein: ENSMUSP00000134456
Gene: ENSMUSG00000042632

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: ENSMUST00000173163
SMART Domains Protein: ENSMUSP00000134456
Gene: ENSMUSG00000042632

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: ENSMUST00000173163
SMART Domains Protein: ENSMUSP00000134456
Gene: ENSMUSG00000042632

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: ENSMUST00000173412
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174375
Predicted Effect probably null
Transcript: ENSMUST00000174021
SMART Domains Protein: ENSMUSP00000134672
Gene: ENSMUSG00000042632

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: ENSMUST00000174021
SMART Domains Protein: ENSMUSP00000134672
Gene: ENSMUSG00000042632

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt G A 9: 4,309,349 (GRCm39) R30* probably null Het
Abca9 G A 11: 110,032,380 (GRCm39) R746W possibly damaging Het
Akap13 A G 7: 75,252,578 (GRCm39) E236G probably damaging Het
Asb4 A C 6: 5,430,912 (GRCm39) R382S probably damaging Het
Bahcc1 T C 11: 120,178,814 (GRCm39) S2458P probably benign Het
Bspry T C 4: 62,400,952 (GRCm39) V148A probably benign Het
Cacna2d3 A C 14: 28,665,512 (GRCm39) probably null Het
Cblb T A 16: 51,963,228 (GRCm39) H390Q probably damaging Het
Cct8l1 T C 5: 25,721,305 (GRCm39) S7P possibly damaging Het
Cep295 T C 9: 15,262,991 (GRCm39) T191A possibly damaging Het
Cts8 A C 13: 61,398,826 (GRCm39) F227V probably benign Het
Elac1 T C 18: 73,875,864 (GRCm39) T56A possibly damaging Het
Fjx1 T C 2: 102,280,864 (GRCm39) N357S possibly damaging Het
Gm5414 T C 15: 101,533,069 (GRCm39) T453A probably damaging Het
Hcls1 G A 16: 36,781,910 (GRCm39) E340K probably benign Het
Hrc C A 7: 44,986,285 (GRCm39) H479N possibly damaging Het
Ikzf4 A G 10: 128,470,047 (GRCm39) V491A probably damaging Het
Kalrn A G 16: 33,873,992 (GRCm39) S138P probably damaging Het
Lama3 G T 18: 12,705,123 (GRCm39) D3062Y probably damaging Het
Lcor A G 19: 41,573,042 (GRCm39) E599G probably damaging Het
Llgl1 T C 11: 60,598,449 (GRCm39) S442P probably benign Het
Macf1 T A 4: 123,353,129 (GRCm39) K1517* probably null Het
Myo9a A T 9: 59,772,953 (GRCm39) Y995F possibly damaging Het
Nek3 A C 8: 22,638,748 (GRCm39) probably null Het
Nynrin A G 14: 56,101,923 (GRCm39) T531A possibly damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2m12 A T 16: 19,104,839 (GRCm39) I218N probably benign Het
Pdia4 A G 6: 47,775,400 (GRCm39) V470A possibly damaging Het
Pinlyp T C 7: 24,241,892 (GRCm39) D105G probably damaging Het
Plpp7 A G 2: 31,985,932 (GRCm39) S37G probably benign Het
Prdm11 G T 2: 92,806,158 (GRCm39) P264Q probably benign Het
Rbl2 G T 8: 91,828,911 (GRCm39) R604L probably benign Het
Rfx7 A G 9: 72,500,584 (GRCm39) T115A probably benign Het
Samd4 A G 14: 47,311,519 (GRCm39) Q279R probably benign Het
Sdha G T 13: 74,475,068 (GRCm39) A591D probably damaging Het
Secisbp2 AAGCAGCAGCAGCAGCAGCA AAGCAGCAGCAGCAGCA 13: 51,828,002 (GRCm39) probably benign Het
Sephs2 G A 7: 126,872,977 (GRCm39) R39W probably damaging Het
Serpina3f T C 12: 104,186,577 (GRCm39) I381T possibly damaging Het
Shd A T 17: 56,283,214 (GRCm39) Q281L probably damaging Het
Sik3 A G 9: 46,034,539 (GRCm39) S98G probably benign Het
Srgap1 T A 10: 121,705,728 (GRCm39) N232I probably damaging Het
Thbs1 A T 2: 117,945,164 (GRCm39) N246Y probably benign Het
Usp9y A G Y: 1,368,022 (GRCm39) probably null Het
Vwde A G 6: 13,190,591 (GRCm39) M500T probably damaging Het
Wdr72 T G 9: 74,183,228 (GRCm39) S1053R probably damaging Het
Yif1b T C 7: 28,945,393 (GRCm39) C192R probably damaging Het
Zc3h13 A G 14: 75,568,687 (GRCm39) S1327G probably damaging Het
Zfp1004 A G 2: 150,033,901 (GRCm39) N74S possibly 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
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'- TGCTGAAGATGCCTCAGGAG -3'
(R):5'- TGTGGCACAGCTCTGTTTC -3'

Sequencing Primer
(F):5'- ATGATGGATGAGCCCGCTG -3'
(R):5'- GGCACAGCTCTGTTTCTCTAGAGAC -3'
Posted On 2016-09-01