Incidental Mutation 'IGL03289:Pla2g6'
ID |
415838 |
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 # |
IGL03289
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
79170428-79212590 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 79201985 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 62
(P62L)
|
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 damaging
Transcript: ENSMUST00000047816
AA Change: P62L
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000044234 Gene: ENSMUSG00000042632 AA Change: P62L
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: ENSMUST00000166977
AA Change: P62L
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000132071 Gene: ENSMUSG00000042632 AA Change: P62L
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: ENSMUST00000172403
AA Change: P62L
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000131081 Gene: ENSMUSG00000042632 AA Change: P62L
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: ENSMUST00000172936
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000173109
AA Change: P62L
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000133554 Gene: ENSMUSG00000042632 AA Change: P62L
Domain | Start | End | E-Value | Type |
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
ANK
|
151 |
181 |
2.97e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000173163
AA Change: P62L
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134456 Gene: ENSMUSG00000042632 AA Change: P62L
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: P62L
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134672 Gene: ENSMUSG00000042632 AA Change: P62L
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 |
probably damaging
Transcript: ENSMUST00000173632
AA Change: P62L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000133998 Gene: ENSMUSG00000042632 AA Change: P62L
Domain | Start | End | E-Value | Type |
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
ANK
|
151 |
181 |
2.97e-3 |
SMART |
Blast:ANK
|
185 |
204 |
7e-6 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174089
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173178
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap10 |
A |
G |
11: 61,768,794 (GRCm39) |
|
probably benign |
Het |
Akap9 |
A |
G |
5: 4,127,261 (GRCm39) |
Y3703C |
probably damaging |
Het |
Ankk1 |
A |
G |
9: 49,326,995 (GRCm39) |
V728A |
probably benign |
Het |
B3galt2 |
T |
C |
1: 143,523,042 (GRCm39) |
Y393H |
probably damaging |
Het |
Clcn4 |
T |
A |
7: 7,287,257 (GRCm39) |
I664F |
probably damaging |
Het |
Clec2e |
A |
T |
6: 129,075,418 (GRCm39) |
I41N |
probably damaging |
Het |
Col2a1 |
A |
T |
15: 97,878,762 (GRCm39) |
N845K |
unknown |
Het |
Cubn |
T |
G |
2: 13,431,778 (GRCm39) |
I1272L |
probably benign |
Het |
Dnajc5 |
T |
C |
2: 181,189,260 (GRCm39) |
Y79H |
probably damaging |
Het |
Eml6 |
G |
T |
11: 29,745,328 (GRCm39) |
A1006E |
possibly damaging |
Het |
Igsf5 |
A |
T |
16: 96,326,632 (GRCm39) |
D271V |
possibly damaging |
Het |
Kalrn |
G |
A |
16: 34,205,667 (GRCm39) |
A70V |
possibly damaging |
Het |
Kcnn2 |
A |
T |
18: 45,810,111 (GRCm39) |
K309N |
probably damaging |
Het |
Lrch4 |
T |
C |
5: 137,631,839 (GRCm39) |
S22P |
probably damaging |
Het |
Mcpt2 |
A |
T |
14: 56,281,794 (GRCm39) |
I215F |
probably damaging |
Het |
Mrc1 |
T |
C |
2: 14,313,634 (GRCm39) |
|
probably null |
Het |
Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
Or1l4b |
C |
T |
2: 37,036,590 (GRCm39) |
A122V |
probably damaging |
Het |
Osbp2 |
A |
G |
11: 3,813,380 (GRCm39) |
V163A |
probably benign |
Het |
Scart1 |
T |
C |
7: 139,808,973 (GRCm39) |
|
probably null |
Het |
Senp1 |
G |
T |
15: 97,982,926 (GRCm39) |
H20Q |
probably damaging |
Het |
Slc16a6 |
A |
G |
11: 109,354,325 (GRCm39) |
Y31H |
probably damaging |
Het |
Thbs2 |
T |
A |
17: 14,910,384 (GRCm39) |
N72Y |
probably benign |
Het |
Usp34 |
T |
A |
11: 23,343,818 (GRCm39) |
S1366T |
possibly damaging |
Het |
Vmn1r216 |
T |
A |
13: 23,284,182 (GRCm39) |
D288E |
possibly damaging |
Het |
Vmn2r11 |
T |
C |
5: 109,196,788 (GRCm39) |
|
probably benign |
Het |
Vnn3 |
A |
T |
10: 23,741,735 (GRCm39) |
S347C |
possibly damaging |
Het |
Yme1l1 |
T |
C |
2: 23,050,280 (GRCm39) |
V37A |
probably benign |
Het |
Zfp597 |
A |
T |
16: 3,683,786 (GRCm39) |
D323E |
possibly damaging |
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 |
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 |
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 |
2016-08-02 |