Incidental Mutation 'R4080:Gpat2'
| ID |
316794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpat2
|
| Ensembl Gene |
ENSMUSG00000046338 |
| Gene Name |
glycerol-3-phosphate acyltransferase 2, mitochondrial |
| Synonyms |
A530057A03Rik, Gpat2 |
| MMRRC Submission |
040856-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4080 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
127267119-127278012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127275542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 465
(I465T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028848]
[ENSMUST00000062211]
|
| AlphaFold |
Q14DK4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028848
|
| SMART Domains |
Protein: ENSMUSP00000028848
Gene: ENSMUSG00000027371
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
53 |
N/A |
INTRINSIC |
|
Pfam:FAA_hydrolase
|
107 |
313 |
3.1e-75 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062211
AA Change: I465T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000049619
Gene: ENSMUSG00000046338
AA Change: I465T
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123327
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137366
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146437
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146615
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146757
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,109,497 (GRCm39) |
D324E |
possibly damaging |
Het |
| Adam7 |
T |
C |
14: 68,757,988 (GRCm39) |
T245A |
probably benign |
Het |
| Adgrf3 |
G |
A |
5: 30,402,367 (GRCm39) |
Q554* |
probably null |
Het |
| Aim2 |
T |
C |
1: 173,287,417 (GRCm39) |
|
probably null |
Het |
| Arhgef1 |
G |
T |
7: 24,625,271 (GRCm39) |
D850Y |
probably damaging |
Het |
| Aspm |
C |
A |
1: 139,398,493 (GRCm39) |
Q1024K |
probably damaging |
Het |
| C7 |
T |
C |
15: 5,019,946 (GRCm39) |
S734G |
probably benign |
Het |
| Ccdc158 |
A |
T |
5: 92,771,255 (GRCm39) |
S987T |
probably benign |
Het |
| Chrna2 |
C |
A |
14: 66,380,873 (GRCm39) |
Y47* |
probably null |
Het |
| Chrna2 |
G |
T |
14: 66,380,866 (GRCm39) |
G45V |
probably benign |
Het |
| Clec2g |
C |
A |
6: 128,958,287 (GRCm39) |
Q117K |
probably damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,029,304 (GRCm39) |
S253G |
probably benign |
Het |
| Cttn |
T |
A |
7: 144,011,461 (GRCm39) |
D116V |
probably damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,790,973 (GRCm39) |
V286A |
probably benign |
Het |
| Dcbld2 |
T |
A |
16: 58,285,736 (GRCm39) |
S632T |
probably damaging |
Het |
| Dscam |
A |
T |
16: 96,484,972 (GRCm39) |
N1118K |
probably benign |
Het |
| Eif2a |
C |
T |
3: 58,447,050 (GRCm39) |
T92M |
possibly damaging |
Het |
| Frmpd1 |
T |
A |
4: 45,284,382 (GRCm39) |
C1068S |
probably benign |
Het |
| Fstl1 |
G |
A |
16: 37,642,965 (GRCm39) |
V110I |
probably benign |
Het |
| Gpr137 |
C |
T |
19: 6,917,791 (GRCm39) |
|
probably benign |
Het |
| Hgsnat |
A |
G |
8: 26,436,371 (GRCm39) |
I561T |
probably benign |
Het |
| Ift74 |
T |
A |
4: 94,541,149 (GRCm39) |
|
probably null |
Het |
| Ilf3 |
A |
G |
9: 21,314,430 (GRCm39) |
|
probably null |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lrrc41 |
C |
A |
4: 115,937,743 (GRCm39) |
|
probably null |
Het |
| Myh11 |
C |
A |
16: 14,041,923 (GRCm39) |
R700L |
possibly damaging |
Het |
| Myo16 |
A |
G |
8: 10,612,240 (GRCm39) |
D1295G |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,873,559 (GRCm39) |
M1488V |
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,435,815 (GRCm39) |
Y903N |
probably damaging |
Het |
| Nek6 |
A |
G |
2: 38,440,649 (GRCm39) |
H19R |
probably damaging |
Het |
| Nktr |
A |
C |
9: 121,570,192 (GRCm39) |
T127P |
probably damaging |
Het |
| Noc4l |
A |
T |
5: 110,797,738 (GRCm39) |
D335E |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,449,622 (GRCm39) |
D1993G |
probably damaging |
Het |
| Or1ad1 |
G |
A |
11: 50,875,683 (GRCm39) |
D52N |
probably damaging |
Het |
| Or5h22 |
A |
T |
16: 58,894,619 (GRCm39) |
F275I |
probably damaging |
Het |
| Pabpc2 |
A |
T |
18: 39,908,583 (GRCm39) |
Q616L |
possibly damaging |
Het |
| Pcdhga4 |
A |
T |
18: 37,818,832 (GRCm39) |
D127V |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,839,633 (GRCm39) |
|
probably benign |
Het |
| Phtf2 |
T |
A |
5: 21,018,294 (GRCm39) |
I16F |
probably damaging |
Het |
| Plekhg3 |
G |
T |
12: 76,624,755 (GRCm39) |
R1200L |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Prorp |
G |
T |
12: 55,351,398 (GRCm39) |
V236F |
possibly damaging |
Het |
| Prss12 |
A |
G |
3: 123,279,134 (GRCm39) |
N404D |
probably benign |
Het |
| Ptch2 |
C |
G |
4: 116,968,403 (GRCm39) |
A926G |
probably damaging |
Het |
| Ptpra |
T |
C |
2: 30,333,317 (GRCm39) |
F6L |
probably damaging |
Het |
| Reck |
T |
C |
4: 43,942,293 (GRCm39) |
I853T |
possibly damaging |
Het |
| Reep6 |
G |
A |
10: 80,165,996 (GRCm39) |
|
probably benign |
Het |
| Rex2 |
T |
A |
4: 147,143,154 (GRCm39) |
S547R |
probably benign |
Het |
| Rgs22 |
C |
T |
15: 36,107,222 (GRCm39) |
E55K |
probably damaging |
Het |
| Rtl6 |
T |
C |
15: 84,441,202 (GRCm39) |
T65A |
possibly damaging |
Het |
| Scarb1 |
G |
T |
5: 125,354,859 (GRCm39) |
P491Q |
probably damaging |
Het |
| Scfd1 |
A |
G |
12: 51,478,302 (GRCm39) |
S505G |
probably benign |
Het |
| Scube1 |
T |
G |
15: 83,492,948 (GRCm39) |
Q904P |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,828,517 (GRCm39) |
Y1186C |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,041,632 (GRCm39) |
D1334G |
probably benign |
Het |
| Spty2d1 |
T |
C |
7: 46,648,329 (GRCm39) |
E200G |
probably damaging |
Het |
| Stard13 |
C |
A |
5: 151,016,294 (GRCm39) |
|
probably null |
Het |
| Sybu |
T |
C |
15: 44,582,339 (GRCm39) |
K95R |
probably damaging |
Het |
| Trappc9 |
T |
A |
15: 72,813,796 (GRCm39) |
D488V |
probably damaging |
Het |
| Txk |
G |
A |
5: 72,858,006 (GRCm39) |
P381S |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 47,299,648 (GRCm39) |
M198K |
probably benign |
Het |
| Unc5a |
A |
T |
13: 55,152,294 (GRCm39) |
T786S |
possibly damaging |
Het |
| Unc93b1 |
G |
A |
19: 3,991,959 (GRCm39) |
R231Q |
probably damaging |
Het |
| Wfdc1 |
T |
A |
8: 120,410,532 (GRCm39) |
|
probably null |
Het |
| Zfp667 |
T |
G |
7: 6,308,105 (GRCm39) |
C258G |
possibly damaging |
Het |
| Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
probably benign |
Het |
|
| Other mutations in Gpat2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Gpat2
|
APN |
2 |
127,274,316 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00479:Gpat2
|
APN |
2 |
127,276,381 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01393:Gpat2
|
APN |
2 |
127,274,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01759:Gpat2
|
APN |
2 |
127,272,816 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01764:Gpat2
|
APN |
2 |
127,269,456 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02631:Gpat2
|
APN |
2 |
127,276,152 (GRCm39) |
splice site |
probably benign |
|
|
IGL02657:Gpat2
|
APN |
2 |
127,269,251 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02813:Gpat2
|
APN |
2 |
127,276,375 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02873:Gpat2
|
APN |
2 |
127,273,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02993:Gpat2
|
APN |
2 |
127,269,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Hygroscopic
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
PIT4494001:Gpat2
|
UTSW |
2 |
127,275,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0078:Gpat2
|
UTSW |
2 |
127,270,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0230:Gpat2
|
UTSW |
2 |
127,277,765 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1619:Gpat2
|
UTSW |
2 |
127,270,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1851:Gpat2
|
UTSW |
2 |
127,276,739 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1939:Gpat2
|
UTSW |
2 |
127,277,879 (GRCm39) |
makesense |
probably null |
|
|
R2143:Gpat2
|
UTSW |
2 |
127,275,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2165:Gpat2
|
UTSW |
2 |
127,270,211 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2518:Gpat2
|
UTSW |
2 |
127,270,211 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3410:Gpat2
|
UTSW |
2 |
127,270,211 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3411:Gpat2
|
UTSW |
2 |
127,270,211 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3898:Gpat2
|
UTSW |
2 |
127,277,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4725:Gpat2
|
UTSW |
2 |
127,273,902 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4841:Gpat2
|
UTSW |
2 |
127,275,887 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5354:Gpat2
|
UTSW |
2 |
127,270,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5941:Gpat2
|
UTSW |
2 |
127,270,195 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6362:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6374:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6375:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6377:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6380:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6381:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6382:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6383:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6384:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6393:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6565:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6594:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6595:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6649:Gpat2
|
UTSW |
2 |
127,274,355 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6665:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6666:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6667:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6668:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6669:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7031:Gpat2
|
UTSW |
2 |
127,277,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7096:Gpat2
|
UTSW |
2 |
127,270,209 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7307:Gpat2
|
UTSW |
2 |
127,276,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7313:Gpat2
|
UTSW |
2 |
127,270,215 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7365:Gpat2
|
UTSW |
2 |
127,268,901 (GRCm39) |
splice site |
probably null |
|
|
R8111:Gpat2
|
UTSW |
2 |
127,275,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8113:Gpat2
|
UTSW |
2 |
127,273,267 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8729:Gpat2
|
UTSW |
2 |
127,275,739 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9010:Gpat2
|
UTSW |
2 |
127,277,146 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9146:Gpat2
|
UTSW |
2 |
127,273,206 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
Z1176:Gpat2
|
UTSW |
2 |
127,275,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Gpat2
|
UTSW |
2 |
127,272,802 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCACAATGCACGTGATCCTG -3'
(R):5'- CTCAGTGTATGTTGGGCCAG -3'
Sequencing Primer
(F):5'- AATGCACGTGATCCTGCTCTC -3'
(R):5'- ATCAAAACCTCGGAGCAGTGTCTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation