Incidental Mutation 'R5390:Pla2g6'
ID 425538
Institutional Source Beutler Lab
Gene Symbol Pla2g6
Ensembl Gene ENSMUSG00000042632
Gene Name phospholipase A2, group VI
Synonyms iPLA2, iPLA2beta
MMRRC Submission 042962-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5390 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 79170428-79212590 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79173893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 590 (S590T)
Ref Sequence ENSEMBL: ENSMUSP00000134672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047816] [ENSMUST00000165408] [ENSMUST00000166977] [ENSMUST00000169462] [ENSMUST00000170955] [ENSMUST00000172403] [ENSMUST00000174021] [ENSMUST00000173163]
AlphaFold P97819
Predicted Effect probably benign
Transcript: ENSMUST00000047816
AA Change: S535T

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000044234
Gene: ENSMUSG00000042632
AA Change: S535T

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 benign
Transcript: ENSMUST00000166977
AA Change: S535T

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000132071
Gene: ENSMUSG00000042632
AA Change: S535T

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: ENSMUST00000169462
SMART Domains Protein: ENSMUSP00000130698
Gene: ENSMUSG00000018126

DomainStartEndE-ValueType
Pfam:IMD 16 226 3.8e-83 PFAM
low complexity region 232 244 N/A INTRINSIC
low complexity region 258 299 N/A INTRINSIC
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 benign
Transcript: ENSMUST00000172403
AA Change: S535T

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000131081
Gene: ENSMUSG00000042632
AA Change: S535T

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: ENSMUST00000174375
Predicted Effect possibly damaging
Transcript: ENSMUST00000174021
AA Change: S590T

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134672
Gene: ENSMUSG00000042632
AA Change: S590T

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: ENSMUST00000173163
AA Change: S535T

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000134456
Gene: ENSMUSG00000042632
AA Change: S535T

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: ENSMUST00000229011
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830454E08Rik T C 9: 120,406,772 (GRCm39) probably benign Het
Anxa4 G A 6: 86,730,865 (GRCm39) T104M probably damaging Het
BC048562 G T 9: 108,313,777 (GRCm39) W9L probably damaging Het
Cachd1 T A 4: 100,838,203 (GRCm39) M822K probably damaging Het
Clec4g C A 8: 3,768,441 (GRCm39) V97L probably benign Het
Ddx19a G A 8: 111,707,263 (GRCm39) Q176* probably null Het
Eml6 T C 11: 29,710,096 (GRCm39) H1413R probably damaging Het
Fam161b C T 12: 84,395,408 (GRCm39) V512M probably damaging Het
Glcci1 A T 6: 8,537,835 (GRCm39) Q151L probably benign Het
Gm10801 TC TCGAC 2: 98,494,151 (GRCm39) probably benign Het
Gpnmb A T 6: 49,024,775 (GRCm39) D269V probably damaging Het
Gpx3 A T 11: 54,800,375 (GRCm39) D191V probably damaging Het
Grm4 C T 17: 27,653,712 (GRCm39) C491Y probably damaging Het
H2-M10.4 T A 17: 36,771,533 (GRCm39) H215L probably damaging Het
Hrc T A 7: 44,984,909 (GRCm39) L20Q probably damaging Het
Hsd17b6 T A 10: 127,827,308 (GRCm39) M255L probably benign Het
Hydin A T 8: 111,322,099 (GRCm39) I4584L probably benign Het
Ift70a2 A T 2: 75,807,630 (GRCm39) L294Q probably damaging Het
Ints5 T A 19: 8,873,931 (GRCm39) I630K possibly damaging Het
Kctd10 A G 5: 114,503,764 (GRCm39) I296T possibly damaging Het
Ltv1 G A 10: 13,058,103 (GRCm39) R234C probably damaging Het
Macf1 A G 4: 123,365,546 (GRCm39) S1507P probably damaging Het
Megf8 G A 7: 25,039,714 (GRCm39) G936D possibly damaging Het
Ms4a4d T C 19: 11,526,004 (GRCm39) probably null Het
Net1 C T 13: 3,943,379 (GRCm39) A3T probably benign Het
Nlrp2 T C 7: 5,303,908 (GRCm39) M206V probably benign Het
Or1j1 C T 2: 36,702,444 (GRCm39) R220H probably benign Het
Or5an1b T A 19: 12,299,505 (GRCm39) I229F probably damaging Het
Pcyox1l T C 18: 61,832,433 (GRCm39) I205V probably benign Het
Pigo A G 4: 43,019,645 (GRCm39) probably null Het
Pwp2 T C 10: 78,013,605 (GRCm39) T539A possibly damaging Het
Rag1 T C 2: 101,473,079 (GRCm39) T688A probably benign Het
Senp7 A G 16: 55,990,279 (GRCm39) T676A probably benign Het
Slc26a6 T C 9: 108,738,499 (GRCm39) probably benign Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Sorbs2 A G 8: 46,272,778 (GRCm39) H653R probably damaging Het
Stk3 T A 15: 35,114,706 (GRCm39) K67* probably null Het
Tctn2 A ACC 5: 124,762,400 (GRCm39) probably benign Homo
Ttn T C 2: 76,540,395 (GRCm39) Y34197C probably damaging Het
Ufc1 A C 1: 171,117,746 (GRCm39) L56R probably damaging Het
Usp34 T A 11: 23,394,202 (GRCm39) probably null Het
Vnn3 T A 10: 23,727,483 (GRCm39) M1K probably null Het
Zfp653 C A 9: 21,969,099 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- CACCTGTCCTTAGCCACCTAAG -3'
(R):5'- GTTGGCCAATTTCCCTTCAGG -3'

Sequencing Primer
(F):5'- CTAAGGCCAGGGCAGTGAC -3'
(R):5'- AGGAAGCTGCCCAGGTCTATG -3'
Posted On 2016-08-04