Incidental Mutation 'R2079:Pla2g6'
ID |
229382 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pla2g6
|
Ensembl Gene |
ENSMUSG00000042632 |
Gene Name |
phospholipase A2, group VI |
Synonyms |
iPLA2, iPLA2beta |
MMRRC Submission |
040084-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2079 (G1)
|
Quality Score |
175 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
79170428-79212590 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 79197194 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 127
(V127M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134672
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047816]
[ENSMUST00000166977]
[ENSMUST00000172403]
[ENSMUST00000172936]
[ENSMUST00000173109]
[ENSMUST00000173163]
[ENSMUST00000174021]
[ENSMUST00000173632]
|
AlphaFold |
P97819 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047816
AA Change: V127M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044234 Gene: ENSMUSG00000042632 AA Change: V127M
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 damaging
Transcript: ENSMUST00000166977
AA Change: V127M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132071 Gene: ENSMUSG00000042632 AA Change: V127M
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 damaging
Transcript: ENSMUST00000172403
AA Change: V127M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131081 Gene: ENSMUSG00000042632 AA Change: V127M
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: ENSMUST00000172936
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000173109
AA Change: V127M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000133554 Gene: ENSMUSG00000042632 AA Change: V127M
Domain | Start | End | E-Value | Type |
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
ANK
|
151 |
181 |
2.97e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000173163
AA Change: V127M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134456 Gene: ENSMUSG00000042632 AA Change: V127M
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 damaging
Transcript: ENSMUST00000174021
AA Change: V127M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134672 Gene: ENSMUSG00000042632 AA Change: V127M
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 damaging
Transcript: ENSMUST00000173632
AA Change: V127M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133998 Gene: ENSMUSG00000042632 AA Change: V127M
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173178
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174089
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173601
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
A |
T |
13: 104,598,746 (GRCm39) |
R862S |
probably benign |
Het |
Aldoa |
T |
C |
7: 126,396,076 (GRCm39) |
D164G |
probably null |
Het |
Ankle2 |
T |
C |
5: 110,392,371 (GRCm39) |
V459A |
probably damaging |
Het |
Atp11a |
A |
G |
8: 12,907,902 (GRCm39) |
Y482C |
probably damaging |
Het |
BC035947 |
A |
G |
1: 78,488,561 (GRCm39) |
|
probably benign |
Het |
Cfap65 |
G |
A |
1: 74,956,358 (GRCm39) |
R1074C |
probably benign |
Het |
Ciart |
G |
T |
3: 95,786,350 (GRCm39) |
H242N |
probably damaging |
Het |
Cidec |
T |
A |
6: 113,402,615 (GRCm39) |
M220L |
probably benign |
Het |
Clca3a1 |
A |
G |
3: 144,713,534 (GRCm39) |
I699T |
possibly damaging |
Het |
Csf2rb2 |
T |
C |
15: 78,172,207 (GRCm39) |
D401G |
probably benign |
Het |
Cyp2j6 |
C |
A |
4: 96,419,962 (GRCm39) |
L256F |
possibly damaging |
Het |
Ddr2 |
A |
T |
1: 169,832,345 (GRCm39) |
Y148* |
probably null |
Het |
Depdc5 |
T |
A |
5: 33,104,018 (GRCm39) |
I373N |
possibly damaging |
Het |
Dpp10 |
A |
T |
1: 123,360,721 (GRCm39) |
M268K |
probably damaging |
Het |
Fam118b |
C |
A |
9: 35,134,960 (GRCm39) |
V216F |
possibly damaging |
Het |
Fancd2 |
T |
C |
6: 113,532,148 (GRCm39) |
V487A |
probably damaging |
Het |
Fhad1 |
T |
A |
4: 141,718,513 (GRCm39) |
R147* |
probably null |
Het |
Flt3 |
A |
G |
5: 147,291,893 (GRCm39) |
S544P |
probably damaging |
Het |
Frem3 |
C |
A |
8: 81,341,732 (GRCm39) |
Q1342K |
probably benign |
Het |
Garin3 |
T |
G |
11: 46,295,934 (GRCm39) |
V102G |
probably benign |
Het |
Gimap4 |
T |
C |
6: 48,667,881 (GRCm39) |
M84T |
possibly damaging |
Het |
Gm20481 |
T |
C |
17: 35,189,196 (GRCm39) |
K569R |
probably benign |
Het |
Gm4871 |
A |
C |
5: 144,966,741 (GRCm39) |
D247E |
possibly damaging |
Het |
Gm5141 |
A |
T |
13: 62,922,424 (GRCm39) |
N248K |
probably benign |
Het |
Gulo |
A |
G |
14: 66,227,832 (GRCm39) |
Y367H |
probably damaging |
Het |
Hap1 |
T |
C |
11: 100,244,572 (GRCm39) |
E120G |
probably damaging |
Het |
Heatr3 |
T |
A |
8: 88,868,404 (GRCm39) |
N51K |
probably damaging |
Het |
Hipk2 |
T |
C |
6: 38,795,720 (GRCm39) |
D183G |
probably damaging |
Het |
Hnrnpll |
T |
A |
17: 80,342,806 (GRCm39) |
T439S |
probably benign |
Het |
Hoxd3 |
A |
C |
2: 74,574,610 (GRCm39) |
E85D |
probably damaging |
Het |
Ipo8 |
A |
T |
6: 148,690,660 (GRCm39) |
M694K |
probably damaging |
Het |
Jag2 |
A |
G |
12: 112,883,997 (GRCm39) |
I194T |
probably damaging |
Het |
Jrkl |
A |
T |
9: 13,244,864 (GRCm39) |
F266I |
probably damaging |
Het |
Kcnt1 |
A |
G |
2: 25,790,260 (GRCm39) |
I436V |
possibly damaging |
Het |
Kdm3b |
A |
T |
18: 34,936,570 (GRCm39) |
D284V |
probably damaging |
Het |
Khdrbs2 |
A |
G |
1: 32,506,955 (GRCm39) |
T200A |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,557,278 (GRCm39) |
D1143G |
possibly damaging |
Het |
Kremen1 |
G |
GGGGT |
11: 5,151,794 (GRCm39) |
|
probably null |
Het |
Lama2 |
A |
C |
10: 27,245,049 (GRCm39) |
I244S |
probably damaging |
Het |
Lama5 |
G |
A |
2: 179,867,301 (GRCm39) |
P99S |
possibly damaging |
Het |
Lrrc30 |
A |
T |
17: 67,938,875 (GRCm39) |
L235Q |
possibly damaging |
Het |
Man2b2 |
C |
T |
5: 36,971,716 (GRCm39) |
V667M |
possibly damaging |
Het |
Mmp2 |
T |
A |
8: 93,576,817 (GRCm39) |
N77K |
probably damaging |
Het |
Myo1a |
A |
G |
10: 127,556,482 (GRCm39) |
E1009G |
probably benign |
Het |
Ndst1 |
A |
G |
18: 60,828,581 (GRCm39) |
Y658H |
probably damaging |
Het |
Nlrp10 |
A |
G |
7: 108,524,835 (GRCm39) |
L215P |
possibly damaging |
Het |
Nrbp1 |
T |
C |
5: 31,408,417 (GRCm39) |
F526L |
probably benign |
Het |
Or10p21 |
T |
C |
10: 128,847,898 (GRCm39) |
V248A |
probably damaging |
Het |
Or51t4 |
T |
A |
7: 102,598,702 (GRCm39) |
F333L |
probably benign |
Het |
Padi2 |
T |
C |
4: 140,660,507 (GRCm39) |
L329P |
probably damaging |
Het |
Pcdhb20 |
A |
G |
18: 37,638,224 (GRCm39) |
Q250R |
probably benign |
Het |
Pcdhb3 |
T |
A |
18: 37,436,362 (GRCm39) |
L776Q |
possibly damaging |
Het |
Pik3cb |
A |
T |
9: 98,942,257 (GRCm39) |
M700K |
probably benign |
Het |
Rabgef1 |
T |
C |
5: 130,219,776 (GRCm39) |
S80P |
probably damaging |
Het |
Sema3a |
C |
T |
5: 13,501,098 (GRCm39) |
T47I |
possibly damaging |
Het |
Sik2 |
C |
T |
9: 50,818,706 (GRCm39) |
|
probably null |
Het |
Sin3a |
T |
C |
9: 56,996,807 (GRCm39) |
V112A |
probably benign |
Het |
Slc26a6 |
G |
A |
9: 108,736,257 (GRCm39) |
A472T |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,311,502 (GRCm39) |
V561A |
probably benign |
Het |
Syt16 |
C |
T |
12: 74,285,073 (GRCm39) |
T422I |
probably damaging |
Het |
Tlr11 |
A |
T |
14: 50,598,437 (GRCm39) |
H141L |
probably damaging |
Het |
Tmem252 |
A |
T |
19: 24,655,017 (GRCm39) |
E131D |
probably benign |
Het |
Trim55 |
T |
G |
3: 19,698,830 (GRCm39) |
L20V |
probably damaging |
Het |
Uqcrfs1 |
A |
T |
13: 30,725,291 (GRCm39) |
V83D |
probably benign |
Het |
Utf1 |
C |
T |
7: 139,524,808 (GRCm39) |
R309* |
probably null |
Het |
Uxs1 |
T |
C |
1: 43,804,133 (GRCm39) |
T261A |
probably damaging |
Het |
Vmn1r24 |
T |
C |
6: 57,932,655 (GRCm39) |
I288V |
probably benign |
Het |
Vmn1r80 |
A |
T |
7: 11,927,121 (GRCm39) |
D77V |
probably damaging |
Het |
Vmn2r74 |
T |
G |
7: 85,606,383 (GRCm39) |
H321P |
probably benign |
Het |
Zfp638 |
T |
C |
6: 83,930,371 (GRCm39) |
|
probably null |
Het |
Zwilch |
T |
A |
9: 64,060,856 (GRCm39) |
Q332L |
probably damaging |
Het |
Zwilch |
G |
T |
9: 64,060,857 (GRCm39) |
Q332K |
probably damaging |
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 |
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'- AGCCATGGCAACGCTATTC -3'
(R):5'- GCTCTTCCAACTGGAGTCTGAG -3'
Sequencing Primer
(F):5'- AGCCATGGCAACGCTATTCTTTTC -3'
(R):5'- GGTGAACTTCCAGCAGTT -3'
|
Posted On |
2014-09-17 |