Incidental Mutation 'R8184:Pla2g6'
| ID |
634790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla2g6
|
| Ensembl Gene |
ENSMUSG00000042632 |
| Gene Name |
phospholipase A2, group VI |
| Synonyms |
iPLA2, iPLA2beta |
| MMRRC Submission |
067607-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8184 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
79170428-79212590 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79171322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 756
(I756T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047816]
[ENSMUST00000165408]
[ENSMUST00000166977]
[ENSMUST00000169462]
[ENSMUST00000170955]
[ENSMUST00000172403]
[ENSMUST00000173163]
[ENSMUST00000174021]
|
| AlphaFold |
P97819 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047816
AA Change: I701T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000044234
Gene: ENSMUSG00000042632
AA Change: I701T
| 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 benign
Transcript: ENSMUST00000166977
AA Change: I701T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132071
Gene: ENSMUSG00000042632
AA Change: I701T
| 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 benign
Transcript: ENSMUST00000172403
AA Change: I701T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000131081
Gene: ENSMUSG00000042632
AA Change: I701T
| 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: ENSMUST00000173163
AA Change: I701T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000134456
Gene: ENSMUSG00000042632
AA Change: I701T
| 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: ENSMUST00000174021
AA Change: I756T
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000134672
Gene: ENSMUSG00000042632
AA Change: I756T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
T |
C |
2: 93,686,086 (GRCm39) |
K577R |
probably benign |
Het |
| Baiap3 |
A |
G |
17: 25,467,499 (GRCm39) |
S368P |
probably benign |
Het |
| Brf2 |
T |
C |
8: 27,614,013 (GRCm39) |
E391G |
possibly damaging |
Het |
| Casr |
T |
A |
16: 36,330,108 (GRCm39) |
M409L |
probably benign |
Het |
| Ccdc83 |
G |
T |
7: 89,873,286 (GRCm39) |
Y356* |
probably null |
Het |
| Clec10a |
A |
T |
11: 70,060,642 (GRCm39) |
N166Y |
probably damaging |
Het |
| Copg1 |
T |
C |
6: 87,866,996 (GRCm39) |
F77S |
probably damaging |
Het |
| Dnah7a |
T |
G |
1: 53,666,194 (GRCm39) |
K611T |
probably benign |
Het |
| Dock10 |
G |
A |
1: 80,530,469 (GRCm39) |
H1025Y |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,741,596 (GRCm39) |
S876T |
possibly damaging |
Het |
| Dop1b |
G |
T |
16: 93,573,881 (GRCm39) |
R1701L |
probably benign |
Het |
| Dus4l |
A |
G |
12: 31,690,817 (GRCm39) |
F278S |
probably damaging |
Het |
| Fbxo43 |
C |
T |
15: 36,162,485 (GRCm39) |
V241I |
possibly damaging |
Het |
| Gbx2 |
A |
T |
1: 89,856,550 (GRCm39) |
I280N |
probably damaging |
Het |
| Gnai1 |
A |
G |
5: 18,496,504 (GRCm39) |
F140L |
|
Het |
| Gne |
T |
C |
4: 44,084,061 (GRCm39) |
Y13C |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,121,662 (GRCm39) |
S688T |
probably benign |
Het |
| Hectd2 |
T |
A |
19: 36,581,754 (GRCm39) |
D431E |
possibly damaging |
Het |
| Hecw2 |
A |
G |
1: 54,079,546 (GRCm39) |
S36P |
probably benign |
Het |
| Hpx |
A |
T |
7: 105,241,352 (GRCm39) |
I353N |
probably damaging |
Het |
| Ints8 |
A |
T |
4: 11,204,534 (GRCm39) |
V974E |
probably damaging |
Het |
| Jaml |
T |
A |
9: 45,000,110 (GRCm39) |
L136Q |
probably damaging |
Het |
| Kazn |
A |
G |
4: 141,845,441 (GRCm39) |
V381A |
probably benign |
Het |
| Krt79 |
T |
C |
15: 101,838,187 (GRCm39) |
T523A |
unknown |
Het |
| Lrrc8e |
T |
G |
8: 4,285,140 (GRCm39) |
L455R |
probably damaging |
Het |
| Mrps11 |
T |
C |
7: 78,433,125 (GRCm39) |
S7P |
possibly damaging |
Het |
| Muc21 |
A |
G |
17: 35,933,722 (GRCm39) |
S155P |
unknown |
Het |
| Neurl3 |
A |
G |
1: 36,308,662 (GRCm39) |
F50S |
probably damaging |
Het |
| Nlgn1 |
T |
C |
3: 25,490,363 (GRCm39) |
T455A |
probably damaging |
Het |
| Pbp2 |
T |
C |
6: 135,287,260 (GRCm39) |
Y29C |
probably damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,101,791 (GRCm39) |
L992* |
probably null |
Het |
| Polm |
T |
A |
11: 5,781,707 (GRCm39) |
D263V |
possibly damaging |
Het |
| Pspc1 |
T |
C |
14: 57,001,700 (GRCm39) |
T225A |
probably benign |
Het |
| Rtca |
C |
A |
3: 116,301,473 (GRCm39) |
A25S |
probably benign |
Het |
| Sirt2 |
G |
A |
7: 28,487,191 (GRCm39) |
V318M |
probably damaging |
Het |
| Slc1a2 |
T |
A |
2: 102,568,197 (GRCm39) |
I78K |
probably damaging |
Het |
| Slco3a1 |
A |
G |
7: 74,009,577 (GRCm39) |
I246T |
probably benign |
Het |
| Smpd5 |
A |
G |
15: 76,179,926 (GRCm39) |
E325G |
probably benign |
Het |
| Snw1 |
T |
C |
12: 87,500,673 (GRCm39) |
E362G |
probably benign |
Het |
| Tmem63c |
A |
T |
12: 87,108,328 (GRCm39) |
M114L |
possibly damaging |
Het |
| Trim24 |
T |
C |
6: 37,848,242 (GRCm39) |
L66P |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,896,060 (GRCm39) |
F966L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,609,643 (GRCm39) |
I17588V |
probably benign |
Het |
| Vmn2r44 |
A |
T |
7: 8,371,227 (GRCm39) |
C606* |
probably null |
Het |
| Vmn2r74 |
A |
T |
7: 85,601,454 (GRCm39) |
V728E |
probably benign |
Het |
| Zfp503 |
T |
C |
14: 22,036,019 (GRCm39) |
D299G |
possibly damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
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 |
|
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 |
|
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'- AATTAGCCACACCAGCCTGG -3'
(R):5'- ACTCTGCACAGCTAGTCCAG -3'
Sequencing Primer
(F):5'- CACCAGCCTGGATGTGAACAG -3'
(R):5'- GGGGGACTTACACAAAGT -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation