Incidental Mutation 'R6241:Pla2g6'
ID 505259
Institutional Source Beutler Lab
Gene Symbol Pla2g6
Ensembl Gene ENSMUSG00000042632
Gene Name phospholipase A2, group VI
Synonyms iPLA2, iPLA2beta
MMRRC Submission 044402-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6241 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 79170428-79212590 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79188592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 422 (S422T)
Ref Sequence ENSEMBL: ENSMUSP00000134672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047816] [ENSMUST00000166977] [ENSMUST00000172403] [ENSMUST00000173163] [ENSMUST00000174021] [ENSMUST00000173632]
AlphaFold P97819
Predicted Effect probably benign
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 benign
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 benign
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 benign
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 probably benign
Transcript: ENSMUST00000174021
AA Change: S422T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000134672
Gene: ENSMUSG00000042632
AA Change: S422T

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: ENSMUST00000174375
Predicted Effect probably benign
Transcript: ENSMUST00000173632
SMART Domains Protein: ENSMUSP00000133998
Gene: ENSMUSG00000042632

DomainStartEndE-ValueType
low complexity region 96 109 N/A INTRINSIC
ANK 151 181 2.97e-3 SMART
Blast:ANK 185 204 7e-6 BLAST
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 98% (51/52)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,623,788 (GRCm39) I385V probably benign Het
Ablim2 A G 5: 36,032,241 (GRCm39) D622G probably damaging Het
Acsbg1 A T 9: 54,549,946 (GRCm39) S86T probably damaging Het
Adam34l T A 8: 44,079,133 (GRCm39) I364L probably benign Het
Ank2 A C 3: 126,846,397 (GRCm39) D199E probably damaging Het
Art2a T A 7: 101,204,452 (GRCm39) M29L probably benign Het
Bbs2 C A 8: 94,824,863 (GRCm39) probably null Het
Brwd1 A T 16: 95,815,074 (GRCm39) I1402N probably damaging Het
C1qtnf9 C A 14: 61,017,069 (GRCm39) P200T possibly damaging Het
Ciita T C 16: 10,329,767 (GRCm39) Y684H probably damaging Het
Dennd1c T C 17: 57,373,272 (GRCm39) N734D probably benign Het
Depdc1b A T 13: 108,460,653 (GRCm39) I88F possibly damaging Het
Dsg2 A G 18: 20,723,274 (GRCm39) probably null Het
Foxp2 A G 6: 15,394,761 (GRCm39) T154A probably damaging Het
Gmeb1 A T 4: 131,969,688 (GRCm39) V95D possibly damaging Het
Gmeb1 A G 4: 131,973,324 (GRCm39) S62P probably benign Het
Golga5 T A 12: 102,438,732 (GRCm39) V149D probably damaging Het
H1f7 A C 15: 98,154,652 (GRCm39) S166A unknown Het
Hivep1 T C 13: 42,311,846 (GRCm39) L1362P probably benign Het
Ift81 T C 5: 122,740,414 (GRCm39) M205V probably benign Het
Iglv3 T A 16: 19,059,968 (GRCm39) Q120L possibly damaging Het
Ints9 C T 14: 65,217,659 (GRCm39) T62I possibly damaging Het
Itga1 G T 13: 115,096,673 (GRCm39) probably null Het
Katnip C T 7: 125,472,006 (GRCm39) H1532Y probably benign Het
Krt77 A C 15: 101,773,988 (GRCm39) I222S probably damaging Het
Mrps25 A G 6: 92,160,819 (GRCm39) probably null Het
Mrps27 A G 13: 99,548,754 (GRCm39) T297A probably benign Het
Mup15 A T 4: 61,357,850 (GRCm39) L7Q unknown Het
Naip1 T A 13: 100,562,169 (GRCm39) I999F probably damaging Het
Ndst1 A G 18: 60,836,901 (GRCm39) F387L probably damaging Het
Nudt9 T C 5: 104,202,151 (GRCm39) S71P probably damaging Het
Or14c41 C A 7: 86,235,245 (GRCm39) A254D probably benign Het
Or2b4 A G 17: 38,116,432 (GRCm39) Y132C probably damaging Het
Or5al1 T G 2: 85,990,380 (GRCm39) E111D probably damaging Het
Pak4 C T 7: 28,264,690 (GRCm39) V71I possibly damaging Het
Pcolce A C 5: 137,603,496 (GRCm39) S446A probably benign Het
Per2 T A 1: 91,349,251 (GRCm39) N1040I probably damaging Het
Pla2r1 G T 2: 60,332,543 (GRCm39) probably null Het
Plcb4 T C 2: 135,752,094 (GRCm39) V100A possibly damaging Het
Polr1d C T 5: 147,015,533 (GRCm39) T72M probably benign Het
Psd3 A C 8: 68,270,791 (GRCm39) probably benign Het
Radil T C 5: 142,480,697 (GRCm39) E586G probably damaging Het
Rnf150 A G 8: 83,591,093 (GRCm39) N152S possibly damaging Het
Serpina1b T A 12: 103,695,515 (GRCm39) probably null Het
Setd3 C T 12: 108,124,114 (GRCm39) E192K probably benign Het
Ssu2 G A 6: 112,351,781 (GRCm39) H315Y probably damaging Het
Taok3 T A 5: 117,410,262 (GRCm39) M818K probably benign Het
Tmem131l T C 3: 83,829,471 (GRCm39) N1062S probably benign Het
Tmx4 C T 2: 134,481,425 (GRCm39) probably benign Het
Traip G A 9: 107,845,933 (GRCm39) C342Y probably benign Het
Traj9 G T 14: 54,446,890 (GRCm39) probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vegfc T C 8: 54,634,289 (GRCm39) S323P probably benign Het
Vinac1 T C 2: 128,879,301 (GRCm39) D875G 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
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
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'- AACTACTGCAGCCATGAAGC -3'
(R):5'- GTTAACATGCCAGTCAGGGTAG -3'

Sequencing Primer
(F):5'- AGCCATGAAGCCCTGTTC -3'
(R):5'- TAACATGCCAGTCAGGGTAGTTACC -3'
Posted On 2018-02-28