Incidental Mutation 'R5390:Pla2g6'
ID |
425538 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pla2g6
|
Ensembl Gene |
ENSMUSG00000042632 |
Gene Name |
phospholipase A2, group VI |
Synonyms |
iPLA2, iPLA2beta |
MMRRC Submission |
042962-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5390 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
79170428-79212590 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 79173893 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 590
(S590T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134672
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047816]
[ENSMUST00000165408]
[ENSMUST00000166977]
[ENSMUST00000169462]
[ENSMUST00000170955]
[ENSMUST00000172403]
[ENSMUST00000174021]
[ENSMUST00000173163]
|
AlphaFold |
P97819 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047816
AA Change: S535T
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000044234 Gene: ENSMUSG00000042632 AA Change: S535T
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: S535T
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000132071 Gene: ENSMUSG00000042632 AA Change: S535T
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: S535T
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000131081 Gene: ENSMUSG00000042632 AA Change: S535T
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: ENSMUST00000174375
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174021
AA Change: S590T
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000134672 Gene: ENSMUSG00000042632 AA Change: S590T
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: ENSMUST00000173163
AA Change: S535T
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000134456 Gene: ENSMUSG00000042632 AA Change: S535T
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: ENSMUST00000229011
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5830454E08Rik |
T |
C |
9: 120,406,772 (GRCm39) |
|
probably benign |
Het |
Anxa4 |
G |
A |
6: 86,730,865 (GRCm39) |
T104M |
probably damaging |
Het |
BC048562 |
G |
T |
9: 108,313,777 (GRCm39) |
W9L |
probably damaging |
Het |
Cachd1 |
T |
A |
4: 100,838,203 (GRCm39) |
M822K |
probably damaging |
Het |
Clec4g |
C |
A |
8: 3,768,441 (GRCm39) |
V97L |
probably benign |
Het |
Ddx19a |
G |
A |
8: 111,707,263 (GRCm39) |
Q176* |
probably null |
Het |
Eml6 |
T |
C |
11: 29,710,096 (GRCm39) |
H1413R |
probably damaging |
Het |
Fam161b |
C |
T |
12: 84,395,408 (GRCm39) |
V512M |
probably damaging |
Het |
Glcci1 |
A |
T |
6: 8,537,835 (GRCm39) |
Q151L |
probably benign |
Het |
Gm10801 |
TC |
TCGAC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
Gpnmb |
A |
T |
6: 49,024,775 (GRCm39) |
D269V |
probably damaging |
Het |
Gpx3 |
A |
T |
11: 54,800,375 (GRCm39) |
D191V |
probably damaging |
Het |
Grm4 |
C |
T |
17: 27,653,712 (GRCm39) |
C491Y |
probably damaging |
Het |
H2-M10.4 |
T |
A |
17: 36,771,533 (GRCm39) |
H215L |
probably damaging |
Het |
Hrc |
T |
A |
7: 44,984,909 (GRCm39) |
L20Q |
probably damaging |
Het |
Hsd17b6 |
T |
A |
10: 127,827,308 (GRCm39) |
M255L |
probably benign |
Het |
Hydin |
A |
T |
8: 111,322,099 (GRCm39) |
I4584L |
probably benign |
Het |
Ift70a2 |
A |
T |
2: 75,807,630 (GRCm39) |
L294Q |
probably damaging |
Het |
Ints5 |
T |
A |
19: 8,873,931 (GRCm39) |
I630K |
possibly damaging |
Het |
Kctd10 |
A |
G |
5: 114,503,764 (GRCm39) |
I296T |
possibly damaging |
Het |
Ltv1 |
G |
A |
10: 13,058,103 (GRCm39) |
R234C |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,365,546 (GRCm39) |
S1507P |
probably damaging |
Het |
Megf8 |
G |
A |
7: 25,039,714 (GRCm39) |
G936D |
possibly damaging |
Het |
Ms4a4d |
T |
C |
19: 11,526,004 (GRCm39) |
|
probably null |
Het |
Net1 |
C |
T |
13: 3,943,379 (GRCm39) |
A3T |
probably benign |
Het |
Nlrp2 |
T |
C |
7: 5,303,908 (GRCm39) |
M206V |
probably benign |
Het |
Or1j1 |
C |
T |
2: 36,702,444 (GRCm39) |
R220H |
probably benign |
Het |
Or5an1b |
T |
A |
19: 12,299,505 (GRCm39) |
I229F |
probably damaging |
Het |
Pcyox1l |
T |
C |
18: 61,832,433 (GRCm39) |
I205V |
probably benign |
Het |
Pigo |
A |
G |
4: 43,019,645 (GRCm39) |
|
probably null |
Het |
Pwp2 |
T |
C |
10: 78,013,605 (GRCm39) |
T539A |
possibly damaging |
Het |
Rag1 |
T |
C |
2: 101,473,079 (GRCm39) |
T688A |
probably benign |
Het |
Senp7 |
A |
G |
16: 55,990,279 (GRCm39) |
T676A |
probably benign |
Het |
Slc26a6 |
T |
C |
9: 108,738,499 (GRCm39) |
|
probably benign |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Sorbs2 |
A |
G |
8: 46,272,778 (GRCm39) |
H653R |
probably damaging |
Het |
Stk3 |
T |
A |
15: 35,114,706 (GRCm39) |
K67* |
probably null |
Het |
Tctn2 |
A |
ACC |
5: 124,762,400 (GRCm39) |
|
probably benign |
Homo |
Ttn |
T |
C |
2: 76,540,395 (GRCm39) |
Y34197C |
probably damaging |
Het |
Ufc1 |
A |
C |
1: 171,117,746 (GRCm39) |
L56R |
probably damaging |
Het |
Usp34 |
T |
A |
11: 23,394,202 (GRCm39) |
|
probably null |
Het |
Vnn3 |
T |
A |
10: 23,727,483 (GRCm39) |
M1K |
probably null |
Het |
Zfp653 |
C |
A |
9: 21,969,099 (GRCm39) |
|
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 |
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'- CACCTGTCCTTAGCCACCTAAG -3'
(R):5'- GTTGGCCAATTTCCCTTCAGG -3'
Sequencing Primer
(F):5'- CTAAGGCCAGGGCAGTGAC -3'
(R):5'- AGGAAGCTGCCCAGGTCTATG -3'
|
Posted On |
2016-08-04 |