Incidental Mutation 'IGL01759:Gpat2'
| ID |
153540 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpat2
|
| Ensembl Gene |
ENSMUSG00000046338 |
| Gene Name |
glycerol-3-phosphate acyltransferase 2, mitochondrial |
| Synonyms |
Gpat2, A530057A03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01759
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
127425199-127436092 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127430896 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 176
(F176S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062211]
|
| AlphaFold |
Q14DK4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062211
AA Change: F176S
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000049619
Gene: ENSMUSG00000046338
AA Change: F176S
| Domain | Start | End | E-Value | Type |
|---|
|
PlsC
|
199 |
333 |
1.45e-11 |
SMART |
|
Blast:PlsC
|
347 |
387 |
7e-13 |
BLAST |
|
low complexity region
|
431 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
675 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3 |
A |
T |
11: 95,835,799 (GRCm38) |
D150E |
probably damaging |
Het |
| Akr1c14 |
T |
A |
13: 4,081,139 (GRCm38) |
I277N |
probably damaging |
Het |
| Ap1b1 |
C |
T |
11: 5,019,433 (GRCm38) |
T263I |
probably damaging |
Het |
| Atp6v0d2 |
C |
A |
4: 19,878,335 (GRCm38) |
V313L |
probably damaging |
Het |
| BC030867 |
T |
C |
11: 102,255,596 (GRCm38) |
C233R |
probably benign |
Het |
| Car2 |
G |
A |
3: 14,895,628 (GRCm38) |
|
probably null |
Het |
| Cdh17 |
T |
A |
4: 11,771,262 (GRCm38) |
|
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,323,559 (GRCm38) |
|
probably null |
Het |
| Cep97 |
T |
C |
16: 55,930,573 (GRCm38) |
K27E |
probably damaging |
Het |
| Cops5 |
A |
T |
1: 10,027,249 (GRCm38) |
N258K |
probably damaging |
Het |
| Dchs1 |
T |
A |
7: 105,755,302 (GRCm38) |
T2678S |
probably benign |
Het |
| Dnah10 |
T |
A |
5: 124,755,786 (GRCm38) |
F861Y |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,526,273 (GRCm38) |
E1777G |
probably damaging |
Het |
| Dock5 |
G |
A |
14: 67,881,259 (GRCm38) |
Q23* |
probably null |
Het |
| Ermp1 |
T |
C |
19: 29,615,836 (GRCm38) |
K752R |
probably benign |
Het |
| Fam160a1 |
A |
C |
3: 85,688,447 (GRCm38) |
I377S |
probably damaging |
Het |
| Gjd2 |
T |
A |
2: 114,011,106 (GRCm38) |
I297L |
probably benign |
Het |
| Gm1123 |
T |
C |
9: 99,023,254 (GRCm38) |
M68V |
probably benign |
Het |
| Gm28372 |
C |
T |
2: 130,406,898 (GRCm38) |
R59W |
probably damaging |
Het |
| Gm9912 |
A |
C |
3: 149,185,438 (GRCm38) |
F20V |
unknown |
Het |
| Gpr150 |
T |
C |
13: 76,055,665 (GRCm38) |
H387R |
possibly damaging |
Het |
| Gpr20 |
T |
A |
15: 73,696,420 (GRCm38) |
D40V |
probably damaging |
Het |
| Jakmip3 |
A |
T |
7: 139,020,904 (GRCm38) |
Q331L |
probably damaging |
Het |
| Kif5b |
A |
G |
18: 6,225,647 (GRCm38) |
V179A |
probably damaging |
Het |
| Kif5b |
A |
T |
18: 6,211,019 (GRCm38) |
|
probably benign |
Het |
| Krt14 |
A |
T |
11: 100,204,416 (GRCm38) |
|
probably benign |
Het |
| L3mbtl3 |
A |
G |
10: 26,331,900 (GRCm38) |
F307S |
unknown |
Het |
| Laptm4a |
T |
C |
12: 8,934,687 (GRCm38) |
|
probably benign |
Het |
| Marveld3 |
T |
C |
8: 109,948,087 (GRCm38) |
S366G |
possibly damaging |
Het |
| Mga |
C |
A |
2: 119,951,195 (GRCm38) |
T2234K |
possibly damaging |
Het |
| Mkrn2os |
T |
C |
6: 115,592,331 (GRCm38) |
N54S |
probably benign |
Het |
| Mras |
T |
C |
9: 99,411,495 (GRCm38) |
I31V |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,219,906 (GRCm38) |
D1518G |
probably damaging |
Het |
| Myoz2 |
A |
T |
3: 123,013,781 (GRCm38) |
Y127N |
possibly damaging |
Het |
| Nhlrc1 |
C |
A |
13: 47,013,962 (GRCm38) |
W273L |
probably benign |
Het |
| Nol9 |
C |
T |
4: 152,046,043 (GRCm38) |
|
probably benign |
Het |
| Nrxn2 |
T |
C |
19: 6,509,929 (GRCm38) |
V1206A |
probably damaging |
Het |
| Olfr180 |
A |
T |
16: 58,915,928 (GRCm38) |
F238I |
probably damaging |
Het |
| Olfr523 |
T |
C |
7: 140,176,534 (GRCm38) |
I138T |
probably benign |
Het |
| Olfr694 |
T |
C |
7: 106,689,333 (GRCm38) |
T133A |
probably benign |
Het |
| Olfr774 |
T |
A |
10: 129,239,072 (GRCm38) |
F308I |
probably benign |
Het |
| Olfr971 |
T |
A |
9: 39,839,611 (GRCm38) |
M59K |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,205,158 (GRCm38) |
|
probably null |
Het |
| Pfkl |
A |
G |
10: 78,000,731 (GRCm38) |
S151P |
probably damaging |
Het |
| Pgbd5 |
C |
T |
8: 124,384,379 (GRCm38) |
G191D |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,253,353 (GRCm38) |
V1276A |
probably benign |
Het |
| Pla2g4c |
T |
A |
7: 13,348,316 (GRCm38) |
Y486N |
probably damaging |
Het |
| Rasal2 |
C |
A |
1: 157,175,932 (GRCm38) |
V386L |
probably benign |
Het |
| S1pr3 |
G |
A |
13: 51,419,512 (GRCm38) |
R243Q |
probably damaging |
Het |
| Slc44a4 |
A |
G |
17: 34,921,243 (GRCm38) |
D208G |
probably benign |
Het |
| Slc6a4 |
T |
C |
11: 77,013,288 (GRCm38) |
S190P |
probably damaging |
Het |
| Snapc5 |
A |
T |
9: 64,180,497 (GRCm38) |
|
probably null |
Het |
| Tbc1d14 |
C |
A |
5: 36,571,569 (GRCm38) |
R151L |
probably damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,931,392 (GRCm38) |
|
probably benign |
Het |
| Tmem219 |
G |
A |
7: 126,897,138 (GRCm38) |
P44L |
probably damaging |
Het |
| Ube2e1 |
T |
C |
14: 18,330,951 (GRCm38) |
R51G |
probably null |
Het |
| Ugp2 |
T |
C |
11: 21,353,447 (GRCm38) |
K53E |
probably benign |
Het |
| Vmn1r214 |
T |
C |
13: 23,034,492 (GRCm38) |
I52T |
probably benign |
Het |
| Vmn2r124 |
C |
T |
17: 18,064,068 (GRCm38) |
T457I |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,878,789 (GRCm38) |
E2978G |
probably damaging |
Het |
| Zfr |
A |
G |
15: 12,159,655 (GRCm38) |
D679G |
probably damaging |
Het |
| Zhx3 |
T |
C |
2: 160,780,714 (GRCm38) |
N511S |
probably damaging |
Het |
|
| Other mutations in Gpat2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Gpat2
|
APN |
2 |
127,432,396 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL00479:Gpat2
|
APN |
2 |
127,434,461 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01393:Gpat2
|
APN |
2 |
127,432,651 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01764:Gpat2
|
APN |
2 |
127,427,536 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL02631:Gpat2
|
APN |
2 |
127,434,232 (GRCm38) |
splice site |
probably benign |
|
|
IGL02657:Gpat2
|
APN |
2 |
127,427,331 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02813:Gpat2
|
APN |
2 |
127,434,455 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02873:Gpat2
|
APN |
2 |
127,431,755 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02993:Gpat2
|
APN |
2 |
127,427,566 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Hygroscopic
|
UTSW |
2 |
127,431,918 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
PIT4494001:Gpat2
|
UTSW |
2 |
127,433,880 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0078:Gpat2
|
UTSW |
2 |
127,428,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0230:Gpat2
|
UTSW |
2 |
127,435,845 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1619:Gpat2
|
UTSW |
2 |
127,428,717 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1851:Gpat2
|
UTSW |
2 |
127,434,819 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R1939:Gpat2
|
UTSW |
2 |
127,435,959 (GRCm38) |
makesense |
probably null |
|
|
R2143:Gpat2
|
UTSW |
2 |
127,433,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2165:Gpat2
|
UTSW |
2 |
127,428,291 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2518:Gpat2
|
UTSW |
2 |
127,428,291 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3410:Gpat2
|
UTSW |
2 |
127,428,291 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3411:Gpat2
|
UTSW |
2 |
127,428,291 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3898:Gpat2
|
UTSW |
2 |
127,435,098 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4080:Gpat2
|
UTSW |
2 |
127,433,622 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4725:Gpat2
|
UTSW |
2 |
127,431,982 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4841:Gpat2
|
UTSW |
2 |
127,433,967 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5354:Gpat2
|
UTSW |
2 |
127,428,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5941:Gpat2
|
UTSW |
2 |
127,428,275 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6362:Gpat2
|
UTSW |
2 |
127,431,918 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6374:Gpat2
|
UTSW |
2 |
127,431,918 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6375:Gpat2
|
UTSW |
2 |
127,431,918 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6377:Gpat2
|
UTSW |
2 |
127,431,918 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6380:Gpat2
|
UTSW |
2 |
127,431,918 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6381:Gpat2
|
UTSW |
2 |
127,431,918 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6382:Gpat2
|
UTSW |
2 |
127,431,918 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6383:Gpat2
|
UTSW |
2 |
127,431,918 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6384:Gpat2
|
UTSW |
2 |
127,431,918 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6393:Gpat2
|
UTSW |
2 |
127,431,918 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6565:Gpat2
|
UTSW |
2 |
127,431,918 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6594:Gpat2
|
UTSW |
2 |
127,431,918 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6595:Gpat2
|
UTSW |
2 |
127,431,918 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6649:Gpat2
|
UTSW |
2 |
127,432,435 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R6665:Gpat2
|
UTSW |
2 |
127,431,918 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6666:Gpat2
|
UTSW |
2 |
127,431,918 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6667:Gpat2
|
UTSW |
2 |
127,431,918 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6668:Gpat2
|
UTSW |
2 |
127,431,918 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6669:Gpat2
|
UTSW |
2 |
127,431,918 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7031:Gpat2
|
UTSW |
2 |
127,435,475 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7096:Gpat2
|
UTSW |
2 |
127,428,289 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7307:Gpat2
|
UTSW |
2 |
127,434,890 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7313:Gpat2
|
UTSW |
2 |
127,428,295 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7365:Gpat2
|
UTSW |
2 |
127,426,981 (GRCm38) |
splice site |
probably null |
|
|
R8111:Gpat2
|
UTSW |
2 |
127,433,857 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8113:Gpat2
|
UTSW |
2 |
127,431,347 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R8729:Gpat2
|
UTSW |
2 |
127,433,819 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9010:Gpat2
|
UTSW |
2 |
127,435,226 (GRCm38) |
missense |
probably benign |
0.28 |
|
R9146:Gpat2
|
UTSW |
2 |
127,431,286 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
Z1176:Gpat2
|
UTSW |
2 |
127,433,808 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Gpat2
|
UTSW |
2 |
127,430,882 (GRCm38) |
missense |
probably benign |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation