Incidental Mutation 'R9280:Pla2g6'
ID 703586
Institutional Source Beutler Lab
Gene Symbol Pla2g6
Ensembl Gene ENSMUSG00000042632
Gene Name phospholipase A2, group VI
Synonyms iPLA2, iPLA2beta
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9280 (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 G at 79197314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 87 (F87L)
Ref Sequence ENSEMBL: ENSMUSP00000134672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047816] [ENSMUST00000166977] [ENSMUST00000172403] [ENSMUST00000172936] [ENSMUST00000173109] [ENSMUST00000173163] [ENSMUST00000174021] [ENSMUST00000173632]
AlphaFold P97819
Predicted Effect probably benign
Transcript: ENSMUST00000047816
AA Change: F87L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000044234
Gene: ENSMUSG00000042632
AA Change: F87L

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
AA Change: F87L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000132071
Gene: ENSMUSG00000042632
AA Change: F87L

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
AA Change: F87L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000131081
Gene: ENSMUSG00000042632
AA Change: F87L

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: ENSMUST00000172936
Predicted Effect probably benign
Transcript: ENSMUST00000173109
AA Change: F87L

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000133554
Gene: ENSMUSG00000042632
AA Change: F87L

DomainStartEndE-ValueType
low complexity region 96 109 N/A INTRINSIC
ANK 151 181 2.97e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173163
AA Change: F87L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000134456
Gene: ENSMUSG00000042632
AA Change: F87L

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: ENSMUST00000174021
AA Change: F87L

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000134672
Gene: ENSMUSG00000042632
AA Change: F87L

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 benign
Transcript: ENSMUST00000173632
AA Change: F87L

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000133998
Gene: ENSMUSG00000042632
AA Change: F87L

DomainStartEndE-ValueType
low complexity region 96 109 N/A INTRINSIC
ANK 151 181 2.97e-3 SMART
Blast:ANK 185 204 7e-6 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (63/63)
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
Acrbp G T 6: 125,039,938 (GRCm39) V514L probably damaging Het
Actl11 A G 9: 107,808,573 (GRCm39) I965M probably damaging Het
Ank3 A T 10: 69,818,021 (GRCm39) S1468C possibly damaging Het
Aoc1l1 A G 6: 48,955,116 (GRCm39) D652G possibly damaging Het
Apobec3 A C 15: 79,791,082 (GRCm39) N392T Het
Ccdc33 A T 9: 57,965,549 (GRCm39) M591K probably benign Het
Ccdc39 T C 3: 33,870,153 (GRCm39) E689G probably damaging Het
Cnot1 A T 8: 96,497,227 (GRCm39) M250K probably benign Het
Crppa T A 12: 36,571,975 (GRCm39) S344R probably benign Het
Ctbs A T 3: 146,160,142 (GRCm39) Y57F probably damaging Het
Dchs2 A G 3: 83,189,255 (GRCm39) I1540V possibly damaging Het
Dnah8 A T 17: 31,004,071 (GRCm39) Q3651H possibly damaging Het
Eif2a A G 3: 58,447,009 (GRCm39) probably benign Het
Entpd2 A G 2: 25,289,511 (GRCm39) N331S possibly damaging Het
F830045P16Rik G A 2: 129,314,774 (GRCm39) P168S probably damaging Het
Fam76b A T 9: 13,751,012 (GRCm39) H302L possibly damaging Het
Fancm A G 12: 65,153,612 (GRCm39) E1356G probably benign Het
Fat2 G A 11: 55,201,523 (GRCm39) T517I probably benign Het
Glul T C 1: 153,783,611 (GRCm39) C269R probably benign Het
Gm3404 C T 5: 146,462,756 (GRCm39) H40Y possibly damaging Het
Grb7 T C 11: 98,345,248 (GRCm39) F435S probably damaging Het
Ide A T 19: 37,295,490 (GRCm39) Y191N Het
Ide T C 19: 37,307,801 (GRCm39) probably benign Het
Ighv6-3 T A 12: 114,355,420 (GRCm39) T90S probably damaging Het
Il23r A G 6: 67,429,410 (GRCm39) C311R probably damaging Het
Ilf2 A G 3: 90,394,922 (GRCm39) E390G unknown Het
Ints1 C T 5: 139,750,469 (GRCm39) C896Y probably damaging Het
Ipcef1 T C 10: 6,850,736 (GRCm39) E289G probably benign Het
Kbtbd2 G A 6: 56,755,997 (GRCm39) R580W probably damaging Het
Kif21b T C 1: 136,099,445 (GRCm39) probably null Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mmp27 A T 9: 7,579,812 (GRCm39) I429L probably benign Het
Mmp8 A G 9: 7,567,292 (GRCm39) D431G possibly damaging Het
Mpeg1 A G 19: 12,439,828 (GRCm39) T429A probably benign Het
Mterf1a A T 5: 3,941,539 (GRCm39) Y110N probably damaging Het
Myh4 G A 11: 67,146,135 (GRCm39) A1398T probably damaging Het
Nr3c2 T A 8: 77,635,973 (GRCm39) M358K probably benign Het
Nup50l A C 6: 96,141,982 (GRCm39) L354R probably damaging Het
Or5d14 A T 2: 87,880,458 (GRCm39) F170Y probably damaging Het
Or5g25 G A 2: 85,478,504 (GRCm39) R54* probably null Het
Or7e173 A C 9: 19,938,639 (GRCm39) S198R probably benign Het
Otof A G 5: 30,528,894 (GRCm39) F1838S probably damaging Het
Pappa2 G A 1: 158,675,533 (GRCm39) T1071I possibly damaging Het
Pcdhb15 A G 18: 37,607,794 (GRCm39) D342G probably damaging Het
Pcdhgb7 T C 18: 37,886,585 (GRCm39) L585P probably damaging Het
Pde1c A T 6: 56,114,505 (GRCm39) S469R probably benign Het
Rag2 A T 2: 101,460,145 (GRCm39) M152L probably benign Het
Rasa1 C T 13: 85,436,732 (GRCm39) A99T unknown Het
Rasgrp1 T C 2: 117,113,132 (GRCm39) N760S probably benign Het
Rgsl1 A T 1: 153,669,898 (GRCm39) M232K probably benign Het
Ryr1 G A 7: 28,802,389 (GRCm39) H744Y probably damaging Het
Slc1a4 A G 11: 20,282,325 (GRCm39) S50P probably damaging Het
Slc25a36 A C 9: 96,982,233 (GRCm39) L34R probably damaging Het
Slc39a12 A T 2: 14,401,003 (GRCm39) I127F probably benign Het
Slco1a8 A G 6: 141,939,978 (GRCm39) L175P possibly damaging Het
Sntb1 T C 15: 55,769,771 (GRCm39) T73A probably benign Het
Tbc1d14 T C 5: 36,680,268 (GRCm39) probably benign Het
Tll2 T A 19: 41,077,309 (GRCm39) E819V possibly damaging Het
Trappc13 C T 13: 104,290,809 (GRCm39) A181T probably benign Het
Trbj1-1 A G 6: 41,510,830 (GRCm39) R11G Het
Ubash3b A C 9: 41,072,877 (GRCm39) I12S unknown Het
Usp37 T C 1: 74,489,699 (GRCm39) K828E probably damaging Het
Usp8 G C 2: 126,561,944 (GRCm39) S46T unknown Het
Zfp418 A G 7: 7,184,408 (GRCm39) T124A possibly damaging Het
Zfp87 T C 13: 74,520,803 (GRCm39) T92A 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
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
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
R9471:Pla2g6 UTSW 15 79,202,039 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCATTGGAAGAACAAGGGCC -3'
(R):5'- CAAGAAGATCAGCCTGCAGC -3'

Sequencing Primer
(F):5'- AGGCAGCATGGACAGCC -3'
(R):5'- TCACGACTTACCTGAGTG -3'
Posted On 2022-03-25