Incidental Mutation 'R7710:Pla2g6'
ID |
594568 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pla2g6
|
Ensembl Gene |
ENSMUSG00000042632 |
Gene Name |
phospholipase A2, group VI |
Synonyms |
iPLA2, iPLA2beta |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7710 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
79170428-79212590 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 79171358 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 744
(V744E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134672
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047816]
[ENSMUST00000165408]
[ENSMUST00000166977]
[ENSMUST00000170955]
[ENSMUST00000172403]
[ENSMUST00000173163]
[ENSMUST00000174021]
|
AlphaFold |
P97819 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047816
AA Change: V689E
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000044234 Gene: ENSMUSG00000042632 AA Change: V689E
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 damaging
Transcript: ENSMUST00000166977
AA Change: V689E
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000132071 Gene: ENSMUSG00000042632 AA Change: V689E
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: ENSMUST00000170955
|
SMART Domains |
Protein: ENSMUSP00000125946 Gene: ENSMUSG00000018126
Domain | Start | End | E-Value | Type |
Pfam:IMD
|
16 |
211 |
1.4e-75 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172403
AA Change: V689E
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000131081 Gene: ENSMUSG00000042632 AA Change: V689E
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: ENSMUST00000173163
AA Change: V689E
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134456 Gene: ENSMUSG00000042632 AA Change: V689E
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: V744E
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134672 Gene: ENSMUSG00000042632 AA Change: V744E
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
G |
A |
4: 86,150,810 (GRCm39) |
E151K |
|
Het |
Ap3b1 |
T |
C |
13: 94,587,581 (GRCm39) |
S452P |
probably damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,251,200 (GRCm39) |
I463V |
probably benign |
Het |
Calhm4 |
A |
T |
10: 33,920,045 (GRCm39) |
M74K |
possibly damaging |
Het |
Ccdc142 |
T |
C |
6: 83,078,677 (GRCm39) |
S5P |
probably benign |
Het |
Cd300ld |
C |
T |
11: 114,875,038 (GRCm39) |
V199M |
probably damaging |
Het |
Cep162 |
T |
C |
9: 87,114,172 (GRCm39) |
Y300C |
probably damaging |
Het |
Ces2h |
C |
T |
8: 105,727,497 (GRCm39) |
Q5* |
probably null |
Het |
Col9a3 |
C |
T |
2: 180,251,158 (GRCm39) |
L310F |
probably damaging |
Het |
Copa |
A |
G |
1: 171,937,411 (GRCm39) |
D454G |
possibly damaging |
Het |
Ctnnbip1 |
A |
C |
4: 149,630,277 (GRCm39) |
M29L |
probably benign |
Het |
Ctnnbl1 |
A |
G |
2: 157,616,491 (GRCm39) |
D64G |
probably benign |
Het |
Dcxr |
T |
A |
11: 120,617,908 (GRCm39) |
T23S |
probably benign |
Het |
Dennd1b |
T |
A |
1: 138,990,670 (GRCm39) |
H211Q |
probably damaging |
Het |
Ercc8 |
G |
A |
13: 108,320,397 (GRCm39) |
A328T |
probably benign |
Het |
Fam217a |
T |
C |
13: 35,095,111 (GRCm39) |
D216G |
possibly damaging |
Het |
Fat2 |
T |
A |
11: 55,201,589 (GRCm39) |
Y495F |
probably benign |
Het |
Fbxw13 |
G |
A |
9: 109,024,968 (GRCm39) |
S15F |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,792,962 (GRCm39) |
C964* |
probably null |
Het |
Fshr |
T |
A |
17: 89,292,683 (GRCm39) |
H665L |
probably benign |
Het |
Gm10447 |
A |
T |
11: 53,347,437 (GRCm39) |
C31S |
unknown |
Het |
Gm13272 |
A |
T |
4: 88,698,586 (GRCm39) |
Q167L |
probably benign |
Het |
Gtpbp2 |
T |
C |
17: 46,478,713 (GRCm39) |
I510T |
possibly damaging |
Het |
Hps6 |
G |
A |
19: 45,993,007 (GRCm39) |
A315T |
probably benign |
Het |
Igfbp6 |
A |
C |
15: 102,056,285 (GRCm39) |
T115P |
probably damaging |
Het |
Ikzf4 |
A |
G |
10: 128,468,610 (GRCm39) |
V623A |
possibly damaging |
Het |
Il11ra1 |
T |
C |
4: 41,764,846 (GRCm39) |
V100A |
probably benign |
Het |
Ints1 |
T |
C |
5: 139,756,840 (GRCm39) |
T493A |
probably benign |
Het |
Itgax |
C |
T |
7: 127,735,028 (GRCm39) |
T453I |
probably benign |
Het |
Kras |
T |
C |
6: 145,166,354 (GRCm39) |
T183A |
probably benign |
Het |
Lhcgr |
T |
C |
17: 89,050,210 (GRCm39) |
T439A |
probably damaging |
Het |
Lrrn4 |
T |
C |
2: 132,721,451 (GRCm39) |
H122R |
probably benign |
Het |
Muc2 |
A |
T |
7: 141,287,452 (GRCm39) |
R210S |
possibly damaging |
Het |
Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
Myo18b |
T |
C |
5: 113,022,891 (GRCm39) |
D167G |
unknown |
Het |
Nedd8 |
G |
A |
14: 55,909,446 (GRCm39) |
|
probably benign |
Het |
Or5b94 |
A |
C |
19: 12,652,340 (GRCm39) |
Y257S |
probably damaging |
Het |
Pars2 |
T |
A |
4: 106,511,276 (GRCm39) |
Y353N |
probably damaging |
Het |
Pbxip1 |
T |
A |
3: 89,355,408 (GRCm39) |
D642E |
probably damaging |
Het |
Pcdhb10 |
A |
T |
18: 37,546,654 (GRCm39) |
R577* |
probably null |
Het |
Pcna-ps2 |
T |
A |
19: 9,261,489 (GRCm39) |
Y249* |
probably null |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Ppfibp1 |
A |
G |
6: 146,897,903 (GRCm39) |
I207V |
probably benign |
Het |
Prr11 |
T |
C |
11: 86,994,433 (GRCm39) |
D71G |
probably benign |
Het |
Rnf150 |
A |
C |
8: 83,590,781 (GRCm39) |
Y48S |
probably damaging |
Het |
Rsf1 |
G |
A |
7: 97,331,041 (GRCm39) |
G1237D |
|
Het |
Rusc2 |
C |
T |
4: 43,416,119 (GRCm39) |
T475I |
probably benign |
Het |
Scgb1b20 |
T |
A |
7: 33,072,867 (GRCm39) |
I25N |
probably damaging |
Het |
Sdr39u1 |
T |
C |
14: 56,137,116 (GRCm39) |
N65S |
probably benign |
Het |
Sh3gl3 |
T |
C |
7: 81,933,294 (GRCm39) |
V219A |
possibly damaging |
Het |
Shcbp1 |
A |
G |
8: 4,814,965 (GRCm39) |
F171S |
probably benign |
Het |
Shq1 |
A |
G |
6: 100,648,006 (GRCm39) |
F6S |
probably damaging |
Het |
Slc12a4 |
C |
T |
8: 106,672,203 (GRCm39) |
R868H |
possibly damaging |
Het |
Smg6 |
T |
C |
11: 74,821,445 (GRCm39) |
V572A |
probably benign |
Het |
Syn3 |
A |
G |
10: 86,243,534 (GRCm39) |
V135A |
probably damaging |
Het |
Tars3 |
A |
T |
7: 65,314,717 (GRCm39) |
D425V |
probably benign |
Het |
Tmem253 |
A |
T |
14: 52,254,608 (GRCm39) |
Q21L |
possibly damaging |
Het |
Trpm3 |
G |
T |
19: 22,896,154 (GRCm39) |
R997L |
probably damaging |
Het |
Ubr5 |
G |
A |
15: 37,980,076 (GRCm39) |
A2434V |
probably null |
Het |
Ugt1a9 |
A |
G |
1: 87,998,831 (GRCm39) |
T94A |
probably benign |
Het |
Vmn1r62 |
A |
G |
7: 5,678,182 (GRCm39) |
|
probably benign |
Het |
Vmn2r61 |
T |
C |
7: 41,916,472 (GRCm39) |
C362R |
probably damaging |
Het |
Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
Zfp94 |
T |
C |
7: 24,003,107 (GRCm39) |
K112E |
probably benign |
Het |
Zfp954 |
A |
T |
7: 7,120,889 (GRCm39) |
V47E |
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 |
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 |
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'- ACACCAGCCTGGATGTGAAC -3'
(R):5'- CTAGATGGACTCTGCACAGC -3'
Sequencing Primer
(F):5'- CGGAAGACCACATCAATGGCTG -3'
(R):5'- TAGATGGACTCTGCACAGCTAGTC -3'
|
Posted On |
2019-11-12 |