Incidental Mutation 'IGL01715:Pla2g6'
| ID |
104913 |
| 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 # |
IGL01715
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
79170428-79212590 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79202057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 38
(V38A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133998
(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: V38A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000044234
Gene: ENSMUSG00000042632
AA Change: V38A
| 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: ENSMUST00000166977
AA Change: V38A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132071
Gene: ENSMUSG00000042632
AA Change: V38A
| 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: ENSMUST00000172403
AA Change: V38A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000131081
Gene: ENSMUSG00000042632
AA Change: V38A
| 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 benign
Transcript: ENSMUST00000173109
AA Change: V38A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000133554
Gene: ENSMUSG00000042632
AA Change: V38A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
|
ANK
|
151 |
181 |
2.97e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173163
AA Change: V38A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000134456
Gene: ENSMUSG00000042632
AA Change: V38A
| 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: ENSMUST00000173178
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174021
AA Change: V38A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000134672
Gene: ENSMUSG00000042632
AA Change: V38A
| 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 benign
Transcript: ENSMUST00000173632
AA Change: V38A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000133998
Gene: ENSMUSG00000042632
AA Change: V38A
| 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
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
A |
G |
15: 11,258,182 (GRCm39) |
N498D |
possibly damaging |
Het |
| Ap5s1 |
T |
C |
2: 131,053,293 (GRCm39) |
S26P |
probably damaging |
Het |
| Apaf1 |
T |
C |
10: 90,894,216 (GRCm39) |
Y473C |
probably benign |
Het |
| Cdc42ep4 |
C |
T |
11: 113,620,268 (GRCm39) |
G41D |
probably damaging |
Het |
| Ddx42 |
T |
A |
11: 106,115,101 (GRCm39) |
Y60N |
probably damaging |
Het |
| Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
| Drd3 |
T |
A |
16: 43,641,631 (GRCm39) |
L316M |
probably damaging |
Het |
| Hadha |
C |
T |
5: 30,325,082 (GRCm39) |
G703R |
probably damaging |
Het |
| Lrrc74a |
A |
C |
12: 86,801,189 (GRCm39) |
M347L |
probably benign |
Het |
| Macf1 |
G |
T |
4: 123,284,879 (GRCm39) |
Q4208K |
probably damaging |
Het |
| Myh15 |
C |
T |
16: 48,877,847 (GRCm39) |
|
probably benign |
Het |
| Ndufa7 |
A |
T |
17: 34,057,122 (GRCm39) |
M101L |
probably benign |
Het |
| Sar1a |
A |
G |
10: 61,521,406 (GRCm39) |
|
probably benign |
Het |
| Sdc3 |
A |
G |
4: 130,546,378 (GRCm39) |
T246A |
probably damaging |
Het |
| Sds |
C |
T |
5: 120,617,272 (GRCm39) |
R43* |
probably null |
Het |
| Slc9a9 |
A |
G |
9: 94,842,499 (GRCm39) |
Y350C |
probably damaging |
Het |
| Strc |
T |
A |
2: 121,196,218 (GRCm39) |
|
probably null |
Het |
| Tln1 |
A |
G |
4: 43,555,890 (GRCm39) |
V108A |
probably damaging |
Het |
| Vmn2r111 |
G |
T |
17: 22,788,054 (GRCm39) |
|
probably benign |
Het |
| Wnk1 |
G |
A |
6: 119,925,358 (GRCm39) |
P1369S |
probably damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,307,105 (GRCm39) |
D110E |
probably benign |
Het |
| Zfp462 |
A |
G |
4: 55,008,586 (GRCm39) |
Y184C |
probably benign |
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation