Incidental Mutation 'R8359:Pla2g6'
ID |
645932 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pla2g6
|
Ensembl Gene |
ENSMUSG00000042632 |
Gene Name |
phospholipase A2, group VI |
Synonyms |
iPLA2, iPLA2beta |
MMRRC Submission |
067872-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8359 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
79170428-79212590 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79171370 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 740
(D740G)
|
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: D685G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000044234 Gene: ENSMUSG00000042632 AA Change: D685G
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: D685G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000132071 Gene: ENSMUSG00000042632 AA Change: D685G
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: D685G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000131081 Gene: ENSMUSG00000042632 AA Change: D685G
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: D685G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134456 Gene: ENSMUSG00000042632 AA Change: D685G
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: D740G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134672 Gene: ENSMUSG00000042632 AA Change: D740G
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: 99.0%
|
Validation Efficiency |
100% (55/55) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
A |
T |
8: 25,296,502 (GRCm39) |
V315D |
probably damaging |
Het |
Adgrf1 |
A |
T |
17: 43,621,286 (GRCm39) |
I508F |
probably damaging |
Het |
Atpaf2 |
T |
C |
11: 60,298,129 (GRCm39) |
D147G |
probably damaging |
Het |
Brwd1 |
T |
C |
16: 95,817,409 (GRCm39) |
T1368A |
probably damaging |
Het |
Cacna1s |
A |
T |
1: 136,043,799 (GRCm39) |
E1626V |
probably benign |
Het |
Carm1 |
G |
A |
9: 21,480,765 (GRCm39) |
V80I |
possibly damaging |
Het |
Cenpw |
T |
A |
10: 30,074,484 (GRCm39) |
D71V |
probably damaging |
Het |
Cit |
T |
A |
5: 116,122,603 (GRCm39) |
|
probably null |
Het |
Ckmt1 |
A |
T |
2: 121,193,531 (GRCm39) |
T364S |
probably benign |
Het |
Col6a4 |
T |
C |
9: 105,945,583 (GRCm39) |
S844G |
probably benign |
Het |
Crybg1 |
T |
C |
10: 43,868,538 (GRCm39) |
E1380G |
probably benign |
Het |
Cyp21a1 |
A |
G |
17: 35,021,105 (GRCm39) |
|
probably null |
Het |
Dhodh |
A |
C |
8: 110,333,038 (GRCm39) |
D12E |
probably benign |
Het |
Dnali1 |
T |
A |
4: 124,957,460 (GRCm39) |
T95S |
probably damaging |
Het |
Dynlrb1 |
A |
G |
2: 155,091,870 (GRCm39) |
N93D |
probably benign |
Het |
Edem1 |
C |
T |
6: 108,823,774 (GRCm39) |
A390V |
probably benign |
Het |
Enthd1 |
T |
C |
15: 80,358,356 (GRCm39) |
D388G |
probably benign |
Het |
Fam170a |
A |
G |
18: 50,414,677 (GRCm39) |
T108A |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,233,276 (GRCm39) |
S1531P |
probably benign |
Het |
Golm2 |
A |
T |
2: 121,697,632 (GRCm39) |
|
probably benign |
Het |
Hspbap1 |
C |
A |
16: 35,645,366 (GRCm39) |
N350K |
probably benign |
Het |
Htr3b |
A |
C |
9: 48,858,596 (GRCm39) |
S94R |
probably damaging |
Het |
Ide |
A |
T |
19: 37,307,886 (GRCm39) |
V42E |
|
Het |
Igf2r |
A |
G |
17: 12,902,748 (GRCm39) |
V2434A |
probably benign |
Het |
Katnip |
T |
C |
7: 125,468,023 (GRCm39) |
|
probably null |
Het |
Kif16b |
G |
A |
2: 142,553,777 (GRCm39) |
A1007V |
probably benign |
Het |
Mccc1 |
C |
T |
3: 36,018,493 (GRCm39) |
V614I |
probably benign |
Het |
Mos |
A |
G |
4: 3,871,097 (GRCm39) |
Y240H |
probably damaging |
Het |
Myh11 |
C |
T |
16: 14,026,095 (GRCm39) |
|
probably null |
Het |
Nexn |
T |
A |
3: 151,953,998 (GRCm39) |
D166V |
probably damaging |
Het |
Or10h1b |
G |
A |
17: 33,395,895 (GRCm39) |
C173Y |
probably damaging |
Het |
Or2t47 |
G |
T |
11: 58,443,029 (GRCm39) |
T12N |
probably benign |
Het |
Or4p4 |
A |
T |
2: 88,483,332 (GRCm39) |
M279L |
probably benign |
Het |
Or5p81 |
T |
A |
7: 108,267,518 (GRCm39) |
N298K |
probably benign |
Het |
Pkp4 |
A |
G |
2: 59,180,895 (GRCm39) |
Y1061C |
probably damaging |
Het |
Pla2r1 |
T |
A |
2: 60,273,627 (GRCm39) |
I920L |
probably benign |
Het |
Plekha2 |
A |
G |
8: 25,578,407 (GRCm39) |
I31T |
probably damaging |
Het |
Ppp1r16b |
G |
T |
2: 158,603,295 (GRCm39) |
V407L |
probably benign |
Het |
Prss50 |
A |
G |
9: 110,691,370 (GRCm39) |
I225V |
probably damaging |
Het |
Rmdn2 |
A |
T |
17: 79,935,580 (GRCm39) |
E231V |
|
Het |
Sema3c |
T |
C |
5: 17,858,726 (GRCm39) |
S42P |
possibly damaging |
Het |
Sh2d1b1 |
T |
A |
1: 170,110,693 (GRCm39) |
|
probably null |
Het |
Slc22a20 |
T |
C |
19: 6,021,554 (GRCm39) |
I483V |
probably benign |
Het |
Slc30a2 |
T |
C |
4: 134,076,690 (GRCm39) |
V275A |
probably damaging |
Het |
Slc6a3 |
T |
A |
13: 73,693,002 (GRCm39) |
F207L |
probably benign |
Het |
Slc9a1 |
A |
T |
4: 133,147,927 (GRCm39) |
Q648H |
probably damaging |
Het |
Slpi |
A |
T |
2: 164,197,975 (GRCm39) |
M1K |
probably null |
Het |
Smc5 |
A |
C |
19: 23,211,443 (GRCm39) |
S564A |
possibly damaging |
Het |
Smchd1 |
A |
T |
17: 71,738,238 (GRCm39) |
F542L |
probably damaging |
Het |
Sycp1 |
T |
A |
3: 102,727,909 (GRCm39) |
K901N |
probably damaging |
Het |
Synpo2l |
T |
A |
14: 20,716,208 (GRCm39) |
T126S |
probably benign |
Het |
Upp2 |
A |
G |
2: 58,667,955 (GRCm39) |
N216S |
probably benign |
Het |
Wnk1 |
T |
C |
6: 119,969,408 (GRCm39) |
D349G |
probably damaging |
Het |
Zfp180 |
C |
T |
7: 23,804,337 (GRCm39) |
A252V |
probably benign |
Het |
Zfr2 |
C |
T |
10: 81,078,653 (GRCm39) |
T295I |
possibly damaging |
Het |
Zkscan16 |
C |
T |
4: 58,957,230 (GRCm39) |
T504I |
possibly 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 |
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 |
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'- AATTAGCCACACCAGCCTGG -3'
(R):5'- CCTAGATGGACTCTGCACAG -3'
Sequencing Primer
(F):5'- CACCAGCCTGGATGTGAACAG -3'
(R):5'- TAGATGGACTCTGCACAGCTAGTC -3'
|
Posted On |
2020-09-02 |