Incidental Mutation 'IGL00906:Pla2g6'
ID |
29038 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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)
|
Stock # |
IGL00906
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
79170428-79212590 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 79171947 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 637
(V637I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134456
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047816]
[ENSMUST00000165408]
[ENSMUST00000166977]
[ENSMUST00000169462]
[ENSMUST00000170955]
[ENSMUST00000172403]
[ENSMUST00000173163]
[ENSMUST00000174021]
|
AlphaFold |
P97819 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047816
AA Change: V637I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044234 Gene: ENSMUSG00000042632 AA Change: V637I
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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: V637I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132071 Gene: ENSMUSG00000042632 AA Change: V637I
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
Pfam:IMD
|
16 |
211 |
1.4e-75 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172403
AA Change: V637I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131081 Gene: ENSMUSG00000042632 AA Change: V637I
Domain | Start | End | E-Value | Type |
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: V637I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134456 Gene: ENSMUSG00000042632 AA Change: V637I
Domain | Start | End | E-Value | Type |
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: V692I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134672 Gene: ENSMUSG00000042632 AA Change: V692I
Domain | Start | End | E-Value | Type |
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 |
noncoding transcript
Transcript: ENSMUST00000229011
|
Coding Region Coverage |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
A |
G |
5: 125,580,338 (GRCm39) |
E221G |
probably benign |
Het |
Alb |
A |
G |
5: 90,619,932 (GRCm39) |
N453S |
probably benign |
Het |
Bckdha |
C |
T |
7: 25,332,767 (GRCm39) |
V183M |
probably benign |
Het |
Brpf3 |
A |
G |
17: 29,055,674 (GRCm39) |
|
probably benign |
Het |
Ccdc163 |
T |
C |
4: 116,567,487 (GRCm39) |
|
probably null |
Het |
Ccdc178 |
A |
T |
18: 22,268,225 (GRCm39) |
C87* |
probably null |
Het |
Cfhr4 |
A |
T |
1: 139,659,312 (GRCm39) |
V739E |
probably damaging |
Het |
Clca4a |
A |
G |
3: 144,660,700 (GRCm39) |
V708A |
probably damaging |
Het |
Cyfip2 |
A |
G |
11: 46,091,512 (GRCm39) |
V1136A |
possibly damaging |
Het |
Dnah11 |
A |
C |
12: 117,874,937 (GRCm39) |
L3976R |
probably damaging |
Het |
Erich1 |
A |
G |
8: 14,083,770 (GRCm39) |
|
probably benign |
Het |
Fam228a |
A |
T |
12: 4,782,773 (GRCm39) |
Y107N |
possibly damaging |
Het |
Iars2 |
A |
T |
1: 185,028,600 (GRCm39) |
|
probably benign |
Het |
Ifi204 |
A |
G |
1: 173,587,197 (GRCm39) |
|
probably benign |
Het |
Ifih1 |
A |
T |
2: 62,476,168 (GRCm39) |
I36N |
probably benign |
Het |
Jak1 |
C |
T |
4: 101,011,826 (GRCm39) |
G1092D |
probably damaging |
Het |
Kir3dl2 |
G |
A |
X: 135,357,097 (GRCm39) |
P122S |
probably damaging |
Het |
Nacc2 |
T |
C |
2: 25,951,678 (GRCm39) |
T386A |
probably damaging |
Het |
Nrf1 |
C |
T |
6: 30,098,477 (GRCm39) |
T135M |
probably damaging |
Het |
Or4k15 |
A |
G |
14: 50,364,214 (GRCm39) |
Y60C |
probably damaging |
Het |
Or51i2 |
G |
A |
7: 103,689,051 (GRCm39) |
G16D |
probably damaging |
Het |
Pcca |
A |
C |
14: 122,927,545 (GRCm39) |
D436A |
probably benign |
Het |
Pcdhb11 |
A |
T |
18: 37,555,174 (GRCm39) |
Q168L |
possibly damaging |
Het |
Pdgfra |
A |
G |
5: 75,340,834 (GRCm39) |
I598V |
probably benign |
Het |
Plac1 |
A |
C |
X: 52,159,593 (GRCm39) |
V39G |
probably damaging |
Het |
Pparg |
A |
G |
6: 115,416,822 (GRCm39) |
E5G |
probably damaging |
Het |
Ppp1r9a |
A |
G |
6: 5,157,023 (GRCm39) |
D967G |
possibly damaging |
Het |
Rel |
T |
C |
11: 23,694,266 (GRCm39) |
T322A |
probably benign |
Het |
Sgk3 |
A |
G |
1: 9,947,470 (GRCm39) |
T137A |
probably benign |
Het |
Sgpp2 |
A |
G |
1: 78,367,184 (GRCm39) |
R106G |
probably benign |
Het |
Slc27a5 |
T |
A |
7: 12,724,984 (GRCm39) |
M459L |
probably benign |
Het |
Snx21 |
T |
C |
2: 164,628,140 (GRCm39) |
L52P |
probably damaging |
Het |
Srarp |
G |
A |
4: 141,160,584 (GRCm39) |
T83M |
probably benign |
Het |
Sstr2 |
A |
G |
11: 113,515,821 (GRCm39) |
R247G |
probably benign |
Het |
Tnpo3 |
G |
A |
6: 29,589,047 (GRCm39) |
S101L |
probably damaging |
Het |
Zan |
A |
G |
5: 137,387,622 (GRCm39) |
I4863T |
unknown |
Het |
|
Other mutations in Pla2g6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00095:Pla2g6
|
APN |
15 |
79,173,441 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
|
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 |
|
Posted On |
2013-04-17 |