Incidental Mutation 'R4826:Pla2g6'
| ID |
374164 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla2g6
|
| Ensembl Gene |
ENSMUSG00000042632 |
| Gene Name |
phospholipase A2, group VI |
| Synonyms |
iPLA2, iPLA2beta |
| MMRRC Submission |
042442-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4826 (G1)
|
| Quality Score |
199 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
79170428-79212590 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79192879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 263
(S263P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047816]
[ENSMUST00000166977]
[ENSMUST00000172403]
[ENSMUST00000173109]
[ENSMUST00000173163]
[ENSMUST00000174021]
[ENSMUST00000173632]
|
| AlphaFold |
P97819 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047816
AA Change: S263P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000044234
Gene: ENSMUSG00000042632
AA Change: S263P
| 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 |
possibly damaging
Transcript: ENSMUST00000166977
AA Change: S263P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132071
Gene: ENSMUSG00000042632
AA Change: S263P
| 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 |
possibly damaging
Transcript: ENSMUST00000172403
AA Change: S263P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131081
Gene: ENSMUSG00000042632
AA Change: S263P
| 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: ENSMUST00000173109
|
| SMART Domains |
Protein: ENSMUSP00000133554
Gene: ENSMUSG00000042632
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
|
ANK
|
151 |
181 |
2.97e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173163
AA Change: S263P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134456
Gene: ENSMUSG00000042632
AA Change: S263P
| 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: ENSMUST00000173412
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173601
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174021
AA Change: S263P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134672
Gene: ENSMUSG00000042632
AA Change: S263P
| 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: ENSMUST00000174089
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174375
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173632
|
| SMART Domains |
Protein: ENSMUSP00000133998
Gene: ENSMUSG00000042632
| 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 |
|
| Meta Mutation Damage Score |
0.3714 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (72/72) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,815,470 (GRCm39) |
R239S |
probably damaging |
Het |
| Acin1 |
A |
G |
14: 54,902,074 (GRCm39) |
S573P |
probably damaging |
Het |
| Acta2 |
A |
T |
19: 34,229,223 (GRCm39) |
Y55* |
probably null |
Het |
| Aifm2 |
T |
C |
10: 61,561,768 (GRCm39) |
M38T |
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,650 (GRCm39) |
V460L |
probably benign |
Het |
| Ap1b1 |
T |
C |
11: 4,968,043 (GRCm39) |
S185P |
probably benign |
Het |
| Arsj |
A |
G |
3: 126,232,451 (GRCm39) |
Y399C |
probably damaging |
Het |
| Ciao3 |
A |
G |
17: 25,999,306 (GRCm39) |
H240R |
probably damaging |
Het |
| Clec2d |
T |
C |
6: 129,161,122 (GRCm39) |
V73A |
probably benign |
Het |
| Cntln |
T |
G |
4: 84,923,281 (GRCm39) |
M582R |
probably benign |
Het |
| Cyp4a10 |
C |
T |
4: 115,375,541 (GRCm39) |
P8L |
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,067,162 (GRCm39) |
N555D |
probably damaging |
Het |
| Dusp4 |
T |
A |
8: 35,285,671 (GRCm39) |
F311I |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,905,256 (GRCm39) |
V1245A |
possibly damaging |
Het |
| Ephb3 |
G |
A |
16: 21,033,745 (GRCm39) |
R23H |
possibly damaging |
Het |
| Ext2 |
T |
C |
2: 93,592,975 (GRCm39) |
T410A |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,593,875 (GRCm39) |
E124G |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,037,106 (GRCm39) |
V3586E |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,606,108 (GRCm39) |
S611P |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,731,752 (GRCm39) |
T956A |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,603,838 (GRCm39) |
T107K |
unknown |
Het |
| Herc6 |
T |
A |
6: 57,624,072 (GRCm39) |
M614K |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,292,706 (GRCm39) |
C4095R |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,891,575 (GRCm39) |
I463T |
possibly damaging |
Het |
| Icam5 |
C |
T |
9: 20,949,099 (GRCm39) |
A817V |
possibly damaging |
Het |
| Igf2r |
A |
T |
17: 12,920,240 (GRCm39) |
D1366E |
probably damaging |
Het |
| Ints7 |
G |
A |
1: 191,344,018 (GRCm39) |
V553I |
probably damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,899,783 (GRCm39) |
I92F |
probably damaging |
Het |
| Itgb1 |
T |
A |
8: 129,446,789 (GRCm39) |
C435S |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,650,615 (GRCm39) |
M216V |
probably benign |
Het |
| Mgam |
T |
C |
6: 40,657,582 (GRCm39) |
V979A |
possibly damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Myh9 |
A |
T |
15: 77,673,146 (GRCm39) |
Y400* |
probably null |
Het |
| Nbeal1 |
A |
G |
1: 60,290,501 (GRCm39) |
R1033G |
possibly damaging |
Het |
| Nit1 |
T |
C |
1: 171,173,166 (GRCm39) |
|
probably benign |
Het |
| Nlrp1c-ps |
A |
G |
11: 71,133,343 (GRCm39) |
|
noncoding transcript |
Het |
| Nt5c1a |
T |
C |
4: 123,102,365 (GRCm39) |
V97A |
probably damaging |
Het |
| Or12k5 |
A |
G |
2: 36,895,345 (GRCm39) |
Y94H |
probably damaging |
Het |
| Or13a18 |
T |
A |
7: 140,190,232 (GRCm39) |
M51K |
probably benign |
Het |
| Or1a1b |
A |
G |
11: 74,097,157 (GRCm39) |
M295T |
possibly damaging |
Het |
| Or56a5 |
G |
T |
7: 104,793,175 (GRCm39) |
N108K |
probably damaging |
Het |
| Or9m1 |
T |
A |
2: 87,733,693 (GRCm39) |
D109V |
probably damaging |
Het |
| Pde4a |
T |
A |
9: 21,103,676 (GRCm39) |
|
probably null |
Het |
| Pkn2 |
T |
C |
3: 142,515,270 (GRCm39) |
K640R |
probably damaging |
Het |
| Prkg1 |
A |
G |
19: 31,742,006 (GRCm39) |
S73P |
possibly damaging |
Het |
| Prr27 |
A |
C |
5: 87,998,825 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
G |
T |
4: 11,599,753 (GRCm39) |
W319L |
probably damaging |
Het |
| Rassf8 |
T |
A |
6: 145,762,276 (GRCm39) |
L349H |
probably damaging |
Het |
| Rmc1 |
G |
T |
18: 12,318,836 (GRCm39) |
|
probably benign |
Het |
| Rnf113a2 |
T |
A |
12: 84,464,388 (GRCm39) |
N93K |
probably benign |
Het |
| Sapcd2 |
C |
T |
2: 25,262,768 (GRCm39) |
A109V |
probably benign |
Het |
| Slamf9 |
C |
A |
1: 172,304,008 (GRCm39) |
H118N |
probably benign |
Het |
| Slc37a1 |
A |
G |
17: 31,541,147 (GRCm39) |
Y213C |
probably damaging |
Het |
| Slc5a1 |
A |
G |
5: 33,316,494 (GRCm39) |
D580G |
probably benign |
Het |
| Slc7a2 |
T |
A |
8: 41,364,083 (GRCm39) |
I432N |
probably damaging |
Het |
| Tas2r114 |
A |
T |
6: 131,666,800 (GRCm39) |
L76Q |
probably damaging |
Het |
| Tcerg1 |
C |
T |
18: 42,668,180 (GRCm39) |
P391L |
unknown |
Het |
| Tdrd12 |
A |
C |
7: 35,203,582 (GRCm39) |
V314G |
probably benign |
Het |
| Zbtb7b |
A |
G |
3: 89,288,080 (GRCm39) |
L246S |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAAACTCTAAAGGGTCTGTTCTTCG -3'
(R):5'- AGCGGCCAGTGCTTATCATG -3'
Sequencing Primer
(F):5'- CTAAAGGGTCTGTTCTTCGCACAG -3'
(R):5'- CTGTCAGCTCCTAGGGAAGAAC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation