Incidental Mutation 'R3906:Pla2g4f'
ID |
309169 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pla2g4f
|
Ensembl Gene |
ENSMUSG00000046971 |
Gene Name |
phospholipase A2, group IVF |
Synonyms |
4732472I07Rik, Pla2zeta |
MMRRC Submission |
040813-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R3906 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120130438-120144646 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 120130980 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 825
(R825Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062607
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054651]
|
AlphaFold |
Q50L41 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000054651
AA Change: R825Q
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000062607 Gene: ENSMUSG00000046971 AA Change: R825Q
Domain | Start | End | E-Value | Type |
C2
|
45 |
144 |
7.51e-11 |
SMART |
PLAc
|
285 |
797 |
1.6e-13 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142183
|
Meta Mutation Damage Score |
0.1132 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
97% (36/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
G |
4: 53,067,151 (GRCm39) |
V1352A |
possibly damaging |
Het |
Abcb7 |
G |
T |
X: 103,327,765 (GRCm39) |
Q715K |
probably benign |
Het |
Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
Ank2 |
A |
G |
3: 126,810,547 (GRCm39) |
L513P |
probably damaging |
Het |
Cacng1 |
C |
A |
11: 107,607,118 (GRCm39) |
V34L |
probably benign |
Het |
Cd1d1 |
A |
G |
3: 86,906,063 (GRCm39) |
W71R |
probably damaging |
Het |
Cdhr3 |
A |
G |
12: 33,103,427 (GRCm39) |
F397L |
probably damaging |
Het |
Ces2a |
A |
G |
8: 105,465,940 (GRCm39) |
I325V |
probably benign |
Het |
Ctsq |
C |
T |
13: 61,186,585 (GRCm39) |
V140M |
probably damaging |
Het |
Cyp4f18 |
A |
G |
8: 72,754,926 (GRCm39) |
|
probably benign |
Het |
Ddi2 |
T |
C |
4: 141,411,592 (GRCm39) |
D440G |
probably benign |
Het |
Dsg3 |
G |
A |
18: 20,671,556 (GRCm39) |
G754R |
probably damaging |
Het |
Endod1 |
T |
A |
9: 14,292,151 (GRCm39) |
Y39F |
probably benign |
Het |
F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
Fpr2 |
A |
G |
17: 18,113,811 (GRCm39) |
K269R |
probably benign |
Het |
Frk |
T |
G |
10: 34,460,052 (GRCm39) |
L216V |
probably benign |
Het |
Gan |
G |
A |
8: 117,920,873 (GRCm39) |
V370M |
probably damaging |
Het |
Grik1 |
A |
G |
16: 87,803,337 (GRCm39) |
I285T |
probably benign |
Het |
Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
Kbtbd8 |
T |
A |
6: 95,103,565 (GRCm39) |
Y405N |
probably damaging |
Het |
Kcnj4 |
G |
T |
15: 79,369,946 (GRCm39) |
H11Q |
probably benign |
Het |
Kif26a |
T |
A |
12: 112,143,324 (GRCm39) |
S1193T |
probably benign |
Het |
Kmt2e |
A |
G |
5: 23,706,624 (GRCm39) |
N1396D |
probably benign |
Het |
Lasp1 |
G |
A |
11: 97,690,653 (GRCm39) |
V12M |
probably damaging |
Het |
Lrrk1 |
G |
T |
7: 65,944,651 (GRCm39) |
T653K |
possibly damaging |
Het |
Meiob |
A |
G |
17: 25,046,922 (GRCm39) |
Y182C |
probably benign |
Het |
Myh6 |
T |
C |
14: 55,194,412 (GRCm39) |
D739G |
probably benign |
Het |
Ninl |
T |
C |
2: 150,822,039 (GRCm39) |
D21G |
probably damaging |
Het |
Or11g27 |
C |
T |
14: 50,771,211 (GRCm39) |
T114I |
probably benign |
Het |
Or9i16 |
C |
T |
19: 13,865,070 (GRCm39) |
C168Y |
probably damaging |
Het |
Pacsin2 |
A |
C |
15: 83,263,256 (GRCm39) |
V125G |
probably damaging |
Het |
Pfas |
G |
A |
11: 68,879,112 (GRCm39) |
|
probably benign |
Het |
Prkd1 |
A |
T |
12: 50,435,209 (GRCm39) |
V506E |
possibly damaging |
Het |
Psmd2 |
A |
G |
16: 20,474,392 (GRCm39) |
D316G |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,753,095 (GRCm39) |
D1742V |
possibly damaging |
Het |
Szt2 |
G |
A |
4: 118,235,466 (GRCm39) |
|
probably benign |
Het |
Ugt8a |
T |
C |
3: 125,708,631 (GRCm39) |
T160A |
possibly damaging |
Het |
Xrcc6 |
A |
G |
15: 81,913,772 (GRCm39) |
T378A |
probably benign |
Het |
|
Other mutations in Pla2g4f |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00539:Pla2g4f
|
APN |
2 |
120,133,219 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL01652:Pla2g4f
|
APN |
2 |
120,132,716 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02792:Pla2g4f
|
APN |
2 |
120,133,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R0625:Pla2g4f
|
UTSW |
2 |
120,135,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R1760:Pla2g4f
|
UTSW |
2 |
120,144,547 (GRCm39) |
unclassified |
probably benign |
|
R1799:Pla2g4f
|
UTSW |
2 |
120,141,549 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2212:Pla2g4f
|
UTSW |
2 |
120,133,587 (GRCm39) |
missense |
probably benign |
|
R2351:Pla2g4f
|
UTSW |
2 |
120,130,923 (GRCm39) |
missense |
probably benign |
0.01 |
R3412:Pla2g4f
|
UTSW |
2 |
120,133,587 (GRCm39) |
missense |
probably benign |
|
R3414:Pla2g4f
|
UTSW |
2 |
120,133,587 (GRCm39) |
missense |
probably benign |
|
R4084:Pla2g4f
|
UTSW |
2 |
120,142,806 (GRCm39) |
missense |
probably benign |
0.36 |
R4477:Pla2g4f
|
UTSW |
2 |
120,134,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R4529:Pla2g4f
|
UTSW |
2 |
120,131,100 (GRCm39) |
missense |
probably damaging |
0.99 |
R4606:Pla2g4f
|
UTSW |
2 |
120,144,467 (GRCm39) |
missense |
probably benign |
0.00 |
R4685:Pla2g4f
|
UTSW |
2 |
120,135,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R4728:Pla2g4f
|
UTSW |
2 |
120,131,402 (GRCm39) |
missense |
probably benign |
0.19 |
R4782:Pla2g4f
|
UTSW |
2 |
120,133,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R4957:Pla2g4f
|
UTSW |
2 |
120,130,980 (GRCm39) |
missense |
probably benign |
0.28 |
R5781:Pla2g4f
|
UTSW |
2 |
120,135,504 (GRCm39) |
missense |
probably damaging |
0.97 |
R6158:Pla2g4f
|
UTSW |
2 |
120,131,552 (GRCm39) |
missense |
probably benign |
0.21 |
R6232:Pla2g4f
|
UTSW |
2 |
120,132,702 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6629:Pla2g4f
|
UTSW |
2 |
120,138,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R6894:Pla2g4f
|
UTSW |
2 |
120,134,077 (GRCm39) |
missense |
probably benign |
0.44 |
R6939:Pla2g4f
|
UTSW |
2 |
120,137,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R7131:Pla2g4f
|
UTSW |
2 |
120,135,035 (GRCm39) |
missense |
probably null |
0.01 |
R7221:Pla2g4f
|
UTSW |
2 |
120,131,476 (GRCm39) |
missense |
probably benign |
0.06 |
R7421:Pla2g4f
|
UTSW |
2 |
120,137,737 (GRCm39) |
missense |
probably benign |
0.07 |
R7767:Pla2g4f
|
UTSW |
2 |
120,135,490 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8466:Pla2g4f
|
UTSW |
2 |
120,130,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R9389:Pla2g4f
|
UTSW |
2 |
120,132,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R9425:Pla2g4f
|
UTSW |
2 |
120,133,264 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9500:Pla2g4f
|
UTSW |
2 |
120,142,713 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9657:Pla2g4f
|
UTSW |
2 |
120,135,138 (GRCm39) |
missense |
probably benign |
|
R9714:Pla2g4f
|
UTSW |
2 |
120,142,900 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGTGTTTAAAGTCTTCCCTCTCC -3'
(R):5'- AAGCCAGATCACCTGTGCAG -3'
Sequencing Primer
(F):5'- CCTCAGCATACTCTGACTTAAGG -3'
(R):5'- AGTGTCCAGGGCTATCAGCTAG -3'
|
Posted On |
2015-04-17 |