Incidental Mutation 'R5093:Pla2g6'
ID |
387957 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pla2g6
|
Ensembl Gene |
ENSMUSG00000042632 |
Gene Name |
phospholipase A2, group VI |
Synonyms |
iPLA2, iPLA2beta |
MMRRC Submission |
042682-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5093 (G1)
|
Quality Score |
156 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
79170428-79212590 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79171328 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 699
(V699A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134456
(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: V699A
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000044234 Gene: ENSMUSG00000042632 AA Change: V699A
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: V699A
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000132071 Gene: ENSMUSG00000042632 AA Change: V699A
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: V699A
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000131081 Gene: ENSMUSG00000042632 AA Change: V699A
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: V754A
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000134672 Gene: ENSMUSG00000042632 AA Change: V754A
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: V699A
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000134456 Gene: ENSMUSG00000042632 AA Change: V699A
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 |
0.1840 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
Validation Efficiency |
99% (90/91) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
C |
T |
13: 119,610,573 (GRCm39) |
|
probably benign |
Het |
Abca9 |
A |
T |
11: 110,032,358 (GRCm39) |
L753Q |
probably damaging |
Het |
Acvrl1 |
A |
G |
15: 101,032,628 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
A |
T |
13: 81,740,704 (GRCm39) |
N141K |
probably damaging |
Het |
Aftph |
C |
T |
11: 20,659,619 (GRCm39) |
|
probably null |
Het |
Aifm1 |
C |
T |
X: 47,571,637 (GRCm39) |
G371S |
probably benign |
Het |
Aldh3b2 |
A |
G |
19: 4,029,433 (GRCm39) |
M269V |
probably benign |
Het |
Ankrd44 |
T |
C |
1: 54,802,877 (GRCm39) |
Y207C |
probably damaging |
Het |
Arhgap15 |
G |
T |
2: 44,212,767 (GRCm39) |
M412I |
probably damaging |
Het |
Auts2 |
A |
C |
5: 131,468,296 (GRCm39) |
L783R |
probably damaging |
Het |
Baiap2l1 |
A |
T |
5: 144,215,363 (GRCm39) |
Y381N |
probably damaging |
Het |
Baiap3 |
T |
C |
17: 25,469,243 (GRCm39) |
D180G |
probably damaging |
Het |
Cant1 |
T |
C |
11: 118,302,038 (GRCm39) |
Y93C |
probably damaging |
Het |
Catsperg2 |
T |
C |
7: 29,416,423 (GRCm39) |
S330G |
probably benign |
Het |
Ccdc73 |
A |
T |
2: 104,848,111 (GRCm39) |
|
probably benign |
Het |
Cdc5l |
A |
T |
17: 45,703,967 (GRCm39) |
F752L |
possibly damaging |
Het |
Celsr2 |
G |
T |
3: 108,320,689 (GRCm39) |
H708N |
possibly damaging |
Het |
Cep170 |
T |
A |
1: 176,596,896 (GRCm39) |
K487M |
possibly damaging |
Het |
Cerkl |
A |
T |
2: 79,163,867 (GRCm39) |
N66K |
probably damaging |
Het |
Cilk1 |
G |
A |
9: 78,047,303 (GRCm39) |
V68I |
probably benign |
Het |
Clec11a |
C |
T |
7: 43,954,150 (GRCm39) |
A268T |
probably damaging |
Het |
Ctnna2 |
C |
A |
6: 77,091,912 (GRCm39) |
|
probably null |
Het |
Diaph3 |
C |
A |
14: 87,222,236 (GRCm39) |
R416L |
probably damaging |
Het |
Dnmbp |
T |
A |
19: 43,838,315 (GRCm39) |
N1170I |
probably damaging |
Het |
Erbb2 |
G |
T |
11: 98,318,279 (GRCm39) |
C505F |
probably damaging |
Het |
Ercc6 |
T |
A |
14: 32,289,479 (GRCm39) |
F904L |
probably damaging |
Het |
Exo5 |
C |
T |
4: 120,779,514 (GRCm39) |
G117D |
probably damaging |
Het |
F2 |
CAGAAAG |
CAG |
2: 91,465,302 (GRCm39) |
|
probably benign |
Het |
Fbxl5 |
A |
G |
5: 43,930,896 (GRCm39) |
Y64H |
probably damaging |
Het |
Gabra4 |
T |
A |
5: 71,798,207 (GRCm39) |
M207L |
probably damaging |
Het |
Galnt15 |
T |
C |
14: 31,771,786 (GRCm39) |
L277P |
probably damaging |
Het |
Gclm |
T |
C |
3: 122,049,261 (GRCm39) |
|
probably null |
Het |
Gm5493 |
T |
A |
17: 22,966,201 (GRCm39) |
C29S |
possibly damaging |
Het |
Grik3 |
A |
G |
4: 125,564,382 (GRCm39) |
T455A |
probably benign |
Het |
Grm3 |
A |
G |
5: 9,639,766 (GRCm39) |
V93A |
probably benign |
Het |
Hdgfl2 |
C |
T |
17: 56,406,217 (GRCm39) |
A535V |
possibly damaging |
Het |
Hfm1 |
A |
T |
5: 107,049,597 (GRCm39) |
S455T |
probably damaging |
Het |
Hmcn1 |
T |
A |
1: 150,613,007 (GRCm39) |
D1424V |
probably benign |
Het |
Hsd3b6 |
C |
T |
3: 98,715,120 (GRCm39) |
V91I |
probably benign |
Het |
Igdcc4 |
G |
A |
9: 65,030,039 (GRCm39) |
S363N |
possibly damaging |
Het |
Intu |
T |
C |
3: 40,647,347 (GRCm39) |
V740A |
probably benign |
Het |
Itga2 |
C |
T |
13: 114,992,717 (GRCm39) |
V838I |
probably benign |
Het |
Kif9 |
A |
G |
9: 110,318,965 (GRCm39) |
E143G |
probably damaging |
Het |
Kmt2c |
T |
A |
5: 25,614,205 (GRCm39) |
I172F |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,754,043 (GRCm39) |
R21W |
probably damaging |
Het |
Mdh1b |
A |
T |
1: 63,750,620 (GRCm39) |
D449E |
probably benign |
Het |
Meis1 |
T |
C |
11: 18,831,785 (GRCm39) |
I418V |
probably benign |
Het |
Nags |
T |
A |
11: 102,037,395 (GRCm39) |
M162K |
probably damaging |
Het |
Nufip1 |
A |
G |
14: 76,348,413 (GRCm39) |
D14G |
probably benign |
Het |
Or2l13 |
T |
A |
16: 19,306,227 (GRCm39) |
I213N |
probably damaging |
Het |
Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
Or7g28 |
T |
G |
9: 19,272,274 (GRCm39) |
I126L |
probably damaging |
Het |
Osmr |
A |
C |
15: 6,850,560 (GRCm39) |
V681G |
probably damaging |
Het |
Paxip1 |
G |
T |
5: 27,971,282 (GRCm39) |
Q356K |
unknown |
Het |
Pcdhac1 |
T |
A |
18: 37,223,595 (GRCm39) |
F136Y |
probably damaging |
Het |
Plcb3 |
A |
T |
19: 6,943,578 (GRCm39) |
V107E |
probably damaging |
Het |
Plch1 |
T |
A |
3: 63,681,136 (GRCm39) |
I164F |
probably damaging |
Het |
Plpp3 |
A |
T |
4: 105,052,077 (GRCm39) |
I73F |
probably damaging |
Het |
Plscr5 |
G |
A |
9: 92,080,574 (GRCm39) |
R20Q |
probably benign |
Het |
Prdm10 |
G |
A |
9: 31,252,779 (GRCm39) |
R504Q |
probably damaging |
Het |
Prss58 |
T |
C |
6: 40,874,751 (GRCm39) |
Y30C |
probably damaging |
Het |
Psg19 |
T |
A |
7: 18,530,894 (GRCm39) |
T87S |
probably benign |
Het |
Ptpn22 |
T |
G |
3: 103,789,418 (GRCm39) |
M294R |
probably benign |
Het |
Rai1 |
T |
A |
11: 60,079,482 (GRCm39) |
M1182K |
probably benign |
Het |
Sez6 |
T |
A |
11: 77,867,388 (GRCm39) |
V795D |
possibly damaging |
Het |
Shcbp1 |
A |
G |
8: 4,789,214 (GRCm39) |
V535A |
possibly damaging |
Het |
Skint9 |
A |
G |
4: 112,246,447 (GRCm39) |
Y222H |
probably benign |
Het |
Slc13a3 |
T |
A |
2: 165,253,816 (GRCm39) |
I446F |
probably damaging |
Het |
Slc2a3 |
C |
T |
6: 122,714,196 (GRCm39) |
R57H |
probably damaging |
Het |
Slc44a4 |
A |
G |
17: 35,140,219 (GRCm39) |
D208G |
probably benign |
Het |
Spata31d1b |
A |
T |
13: 59,863,838 (GRCm39) |
N329Y |
possibly damaging |
Het |
Strbp |
C |
T |
2: 37,517,499 (GRCm39) |
R192K |
probably damaging |
Het |
Tctn3 |
A |
T |
19: 40,600,548 (GRCm39) |
L14Q |
probably damaging |
Het |
Tenm2 |
T |
A |
11: 36,834,989 (GRCm39) |
D2V |
probably damaging |
Het |
Tln2 |
T |
G |
9: 67,241,596 (GRCm39) |
K1003T |
probably benign |
Het |
Tmem63b |
T |
C |
17: 45,971,800 (GRCm39) |
E805G |
probably damaging |
Het |
Trhr |
A |
T |
15: 44,060,980 (GRCm39) |
N167Y |
probably damaging |
Het |
Trpc2 |
A |
G |
7: 101,744,390 (GRCm39) |
R721G |
probably benign |
Het |
Ttn |
C |
A |
2: 76,701,267 (GRCm39) |
|
probably benign |
Het |
Wdr91 |
A |
G |
6: 34,869,288 (GRCm39) |
I412T |
probably damaging |
Het |
Zcchc4 |
T |
A |
5: 52,953,952 (GRCm39) |
S211T |
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 |
R4826:Pla2g6
|
UTSW |
15 |
79,192,879 (GRCm39) |
missense |
possibly damaging |
0.96 |
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'- ACCAGCCTGGATGTGAACAG -3'
(R):5'- TCCTAGATGGACTCTGCACAG -3'
Sequencing Primer
(F):5'- ATGTGAACAGGAGTTTGGGC -3'
(R):5'- TAGATGGACTCTGCACAGCTAGTC -3'
|
Posted On |
2016-06-06 |