Incidental Mutation 'R1617:Pla2g6'
ID |
174390 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pla2g6
|
Ensembl Gene |
ENSMUSG00000042632 |
Gene Name |
phospholipase A2, group VI |
Synonyms |
iPLA2, iPLA2beta |
MMRRC Submission |
039654-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1617 (G1)
|
Quality Score |
197 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
79170428-79212590 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79173341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 676
(M676T)
|
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: M621T
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000044234 Gene: ENSMUSG00000042632 AA Change: M621T
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: M621T
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000132071 Gene: ENSMUSG00000042632 AA Change: M621T
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: M621T
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000131081 Gene: ENSMUSG00000042632 AA Change: M621T
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: M676T
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000134672 Gene: ENSMUSG00000042632 AA Change: M676T
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: M621T
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000134456 Gene: ENSMUSG00000042632 AA Change: M621T
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 |
noncoding transcript
Transcript: ENSMUST00000229011
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.0%
|
Validation Efficiency |
98% (83/85) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
T |
A |
13: 119,603,473 (GRCm39) |
I91K |
probably damaging |
Het |
AAdacl4fm3 |
T |
G |
4: 144,441,961 (GRCm39) |
T97P |
probably damaging |
Het |
Adamts16 |
T |
A |
13: 70,946,154 (GRCm39) |
M254L |
probably benign |
Het |
Adgre5 |
T |
C |
8: 84,456,806 (GRCm39) |
I192V |
possibly damaging |
Het |
Akr1c21 |
G |
A |
13: 4,626,351 (GRCm39) |
|
probably null |
Het |
Amz2 |
A |
G |
11: 109,324,850 (GRCm39) |
T245A |
probably benign |
Het |
Aqp7 |
A |
C |
4: 41,036,109 (GRCm39) |
M43R |
probably null |
Het |
Arid3c |
G |
A |
4: 41,725,103 (GRCm39) |
P315S |
probably damaging |
Het |
Birc2 |
A |
T |
9: 7,826,952 (GRCm39) |
Y345N |
possibly damaging |
Het |
Blnk |
T |
C |
19: 40,950,807 (GRCm39) |
T115A |
probably benign |
Het |
Col5a1 |
T |
C |
2: 27,842,393 (GRCm39) |
S423P |
unknown |
Het |
Corin |
A |
T |
5: 72,661,295 (GRCm39) |
F66Y |
possibly damaging |
Het |
Cpd |
A |
T |
11: 76,737,495 (GRCm39) |
W100R |
probably damaging |
Het |
Cpsf1 |
A |
T |
15: 76,486,570 (GRCm39) |
Y296* |
probably null |
Het |
Cyp2d34 |
T |
C |
15: 82,505,046 (GRCm39) |
T5A |
probably benign |
Het |
Dhrs7c |
G |
T |
11: 67,705,903 (GRCm39) |
V219L |
possibly damaging |
Het |
Dnah3 |
T |
C |
7: 119,689,169 (GRCm39) |
M82V |
probably benign |
Het |
Dnah9 |
A |
G |
11: 65,786,747 (GRCm39) |
S3629P |
probably damaging |
Het |
Fbrs |
T |
C |
7: 127,086,883 (GRCm39) |
L33P |
probably damaging |
Het |
Fhip1b |
A |
G |
7: 105,034,269 (GRCm39) |
L454P |
probably damaging |
Het |
Galnt11 |
T |
A |
5: 25,463,891 (GRCm39) |
S388T |
probably damaging |
Het |
Glmp |
A |
G |
3: 88,235,426 (GRCm39) |
|
probably benign |
Het |
Gm9894 |
A |
G |
13: 67,920,845 (GRCm39) |
|
noncoding transcript |
Het |
Grik3 |
A |
G |
4: 125,584,985 (GRCm39) |
M618V |
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,620,778 (GRCm39) |
D1144G |
probably damaging |
Het |
Hnrnpa2b1 |
T |
C |
6: 51,443,378 (GRCm39) |
K161R |
possibly damaging |
Het |
Kmt2c |
T |
C |
5: 25,580,925 (GRCm39) |
I523V |
probably benign |
Het |
Lmln |
C |
T |
16: 32,937,500 (GRCm39) |
P622S |
probably damaging |
Het |
Lmtk2 |
A |
G |
5: 144,110,680 (GRCm39) |
T467A |
probably damaging |
Het |
Map1s |
T |
A |
8: 71,366,095 (GRCm39) |
N333K |
probably damaging |
Het |
Mgat4d |
C |
A |
8: 84,092,340 (GRCm39) |
A242D |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,417,261 (GRCm39) |
Y3402* |
probably null |
Het |
Myo3b |
G |
T |
2: 70,111,562 (GRCm39) |
A922S |
probably benign |
Het |
Nphs1 |
T |
C |
7: 30,181,956 (GRCm39) |
V1183A |
probably benign |
Het |
Nup160 |
T |
A |
2: 90,509,843 (GRCm39) |
C31S |
probably benign |
Het |
Or4c58 |
T |
C |
2: 89,674,598 (GRCm39) |
T240A |
probably benign |
Het |
Or8k25 |
A |
T |
2: 86,244,035 (GRCm39) |
Y120* |
probably null |
Het |
Pcdhb5 |
T |
G |
18: 37,454,455 (GRCm39) |
Y278* |
probably null |
Het |
Pkhd1 |
T |
A |
1: 20,268,274 (GRCm39) |
E3368V |
possibly damaging |
Het |
Plcb1 |
A |
T |
2: 135,179,361 (GRCm39) |
N590Y |
probably damaging |
Het |
Prr12 |
G |
A |
7: 44,699,018 (GRCm39) |
|
probably benign |
Het |
Psat1 |
A |
G |
19: 15,901,666 (GRCm39) |
|
probably null |
Het |
Ptpn9 |
T |
G |
9: 56,934,692 (GRCm39) |
I152S |
possibly damaging |
Het |
Ric8b |
T |
A |
10: 84,783,475 (GRCm39) |
F111Y |
probably damaging |
Het |
Slc44a3 |
G |
A |
3: 121,254,914 (GRCm39) |
A568V |
probably benign |
Het |
Smarcd3 |
T |
G |
5: 24,800,192 (GRCm39) |
R213S |
probably damaging |
Het |
Snx13 |
T |
C |
12: 35,136,895 (GRCm39) |
Y119H |
probably damaging |
Het |
Socs2 |
C |
A |
10: 95,248,943 (GRCm39) |
E57* |
probably null |
Het |
Spred1 |
C |
T |
2: 117,005,828 (GRCm39) |
P197S |
probably benign |
Het |
Srek1 |
G |
T |
13: 103,880,112 (GRCm39) |
P482Q |
unknown |
Het |
Tapbp |
A |
G |
17: 34,139,405 (GRCm39) |
T134A |
probably benign |
Het |
Tarbp1 |
T |
C |
8: 127,171,007 (GRCm39) |
I998V |
possibly damaging |
Het |
Tbcel |
G |
T |
9: 42,372,589 (GRCm39) |
|
probably benign |
Het |
Tec |
A |
G |
5: 72,939,448 (GRCm39) |
F189S |
probably damaging |
Het |
Tmprss11g |
A |
T |
5: 86,647,422 (GRCm39) |
Y39N |
probably damaging |
Het |
Tmtc1 |
A |
G |
6: 148,256,902 (GRCm39) |
|
probably benign |
Het |
Trpa1 |
A |
G |
1: 14,943,899 (GRCm39) |
I1070T |
probably damaging |
Het |
Trpm2 |
T |
A |
10: 77,771,709 (GRCm39) |
|
probably null |
Het |
Ttc21b |
G |
T |
2: 66,056,379 (GRCm39) |
T669K |
probably benign |
Het |
Ttll4 |
G |
A |
1: 74,718,560 (GRCm39) |
R137H |
probably benign |
Het |
Ubqln3 |
G |
T |
7: 103,792,067 (GRCm39) |
L8I |
possibly damaging |
Het |
Ung |
C |
A |
5: 114,269,415 (GRCm39) |
N42K |
probably benign |
Het |
Upp1 |
T |
C |
11: 9,084,865 (GRCm39) |
S195P |
probably damaging |
Het |
Urb1 |
T |
C |
16: 90,557,340 (GRCm39) |
E1762G |
possibly damaging |
Het |
Utp11 |
T |
C |
4: 124,579,904 (GRCm39) |
K35E |
probably damaging |
Het |
Vav3 |
A |
T |
3: 109,418,294 (GRCm39) |
K305I |
probably damaging |
Het |
Vmn1r197 |
A |
G |
13: 22,512,498 (GRCm39) |
I140V |
possibly damaging |
Het |
Vmn2r-ps158 |
A |
G |
7: 42,673,503 (GRCm39) |
E187G |
probably benign |
Het |
Zfc3h1 |
A |
G |
10: 115,226,827 (GRCm39) |
T295A |
probably benign |
Het |
Zfp268 |
A |
T |
4: 145,350,877 (GRCm39) |
|
probably benign |
Het |
Zfp46 |
T |
C |
4: 136,017,823 (GRCm39) |
L219P |
probably damaging |
Het |
Zfp493 |
G |
A |
13: 67,931,999 (GRCm39) |
V33M |
probably damaging |
Het |
Zfp92 |
T |
C |
X: 72,463,466 (GRCm39) |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCCTCAAAATTCTCCTAGCACGG -3'
(R):5'- CAGTGACACACCACCTTTCATCAGG -3'
Sequencing Primer
(F):5'- GGACTCTGCCCATCAGAC -3'
(R):5'- TACCCAGCCTGAGATCTGAAGG -3'
|
Posted On |
2014-04-24 |