Incidental Mutation 'R4725:Gpat2'
ID |
358384 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpat2
|
Ensembl Gene |
ENSMUSG00000046338 |
Gene Name |
glycerol-3-phosphate acyltransferase 2, mitochondrial |
Synonyms |
A530057A03Rik, Gpat2 |
MMRRC Submission |
041960-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4725 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
127267119-127278012 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127273902 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 315
(V315A)
|
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 |
possibly damaging
Transcript: ENSMUST00000062211
AA Change: V315A
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000049619 Gene: ENSMUSG00000046338 AA Change: V315A
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: ENSMUST00000146757
|
Meta Mutation Damage Score |
0.6930 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
96% (64/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5830454E08Rik |
T |
C |
9: 120,406,769 (GRCm39) |
|
probably benign |
Het |
Adamts20 |
T |
C |
15: 94,249,643 (GRCm39) |
E458G |
probably damaging |
Het |
Adgrl3 |
T |
C |
5: 81,914,052 (GRCm39) |
I1220T |
possibly damaging |
Het |
Aldh1a1 |
T |
A |
19: 20,617,445 (GRCm39) |
M459K |
probably benign |
Het |
Bmal1 |
C |
A |
7: 112,903,566 (GRCm39) |
P454Q |
possibly damaging |
Het |
Camta1 |
A |
G |
4: 151,232,953 (GRCm39) |
V240A |
probably benign |
Het |
Ccdc88b |
C |
T |
19: 6,834,481 (GRCm39) |
G149R |
probably damaging |
Het |
Ceacam5 |
T |
C |
7: 17,494,602 (GRCm39) |
V870A |
probably benign |
Het |
Cep192 |
A |
C |
18: 67,949,837 (GRCm39) |
Q307P |
probably benign |
Het |
Cep63 |
T |
C |
9: 102,467,755 (GRCm39) |
|
probably benign |
Het |
Cldn12 |
A |
G |
5: 5,558,385 (GRCm39) |
F14S |
probably damaging |
Het |
Ctdsp1 |
G |
A |
1: 74,433,823 (GRCm39) |
V135I |
possibly damaging |
Het |
Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
Dchs1 |
T |
C |
7: 105,404,460 (GRCm39) |
D2694G |
probably damaging |
Het |
Dchs1 |
C |
G |
7: 105,414,759 (GRCm39) |
G761A |
probably damaging |
Het |
Dennd5b |
A |
G |
6: 148,946,277 (GRCm39) |
Y445H |
probably damaging |
Het |
Dock1 |
T |
A |
7: 134,346,743 (GRCm39) |
L225* |
probably null |
Het |
Drd3 |
G |
T |
16: 43,643,164 (GRCm39) |
E467* |
probably null |
Het |
Dysf |
A |
T |
6: 84,074,738 (GRCm39) |
N527I |
probably damaging |
Het |
Erbb2 |
A |
G |
11: 98,315,970 (GRCm39) |
T358A |
possibly damaging |
Het |
Fhad1 |
A |
T |
4: 141,655,689 (GRCm39) |
|
probably null |
Het |
Ganc |
T |
C |
2: 120,265,754 (GRCm39) |
I434T |
probably damaging |
Het |
Gm5830 |
T |
A |
1: 78,945,549 (GRCm39) |
|
noncoding transcript |
Het |
Gm6096 |
G |
T |
7: 33,950,484 (GRCm39) |
E8* |
probably null |
Het |
Gne |
A |
G |
4: 44,066,806 (GRCm39) |
F63S |
probably benign |
Het |
Gpr33 |
A |
G |
12: 52,070,892 (GRCm39) |
L49P |
probably damaging |
Het |
Heatr1 |
C |
T |
13: 12,439,543 (GRCm39) |
Q1374* |
probably null |
Het |
Hivep1 |
A |
G |
13: 42,316,887 (GRCm39) |
I2032V |
probably benign |
Het |
Igkv2-112 |
A |
C |
6: 68,197,450 (GRCm39) |
I40L |
probably benign |
Het |
Kcnab3 |
A |
G |
11: 69,221,294 (GRCm39) |
N204D |
probably benign |
Het |
Kcnj10 |
T |
A |
1: 172,196,726 (GRCm39) |
F80Y |
probably damaging |
Het |
Lcmt2 |
C |
G |
2: 120,969,911 (GRCm39) |
V171L |
probably benign |
Het |
Loxhd1 |
T |
A |
18: 77,483,153 (GRCm39) |
Y1245N |
probably damaging |
Het |
Lrrc7 |
GAAGTTGTTTGGAGATTCTTATCTTA |
GA |
3: 158,024,045 (GRCm39) |
|
probably benign |
Het |
Mast1 |
A |
G |
8: 85,655,635 (GRCm39) |
S170P |
possibly damaging |
Het |
Mroh4 |
A |
G |
15: 74,487,956 (GRCm39) |
L322P |
probably damaging |
Het |
Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
Nudcd3 |
A |
T |
11: 6,143,475 (GRCm39) |
V1D |
probably damaging |
Het |
Pah |
T |
A |
10: 87,390,238 (GRCm39) |
L25Q |
probably damaging |
Het |
Pik3cg |
A |
T |
12: 32,243,596 (GRCm39) |
|
probably null |
Het |
Pira13 |
A |
C |
7: 3,824,547 (GRCm39) |
S611A |
probably benign |
Het |
Plekha6 |
C |
A |
1: 133,211,058 (GRCm39) |
S625Y |
probably damaging |
Het |
Rtn4 |
T |
A |
11: 29,658,362 (GRCm39) |
S839T |
probably damaging |
Het |
Rusc1 |
A |
G |
3: 88,998,736 (GRCm39) |
S349P |
possibly damaging |
Het |
Samsn1 |
A |
T |
16: 75,742,217 (GRCm39) |
|
noncoding transcript |
Het |
Scimp |
A |
G |
11: 70,691,539 (GRCm39) |
V30A |
probably damaging |
Het |
Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
Sgip1 |
A |
G |
4: 102,823,419 (GRCm39) |
D680G |
probably damaging |
Het |
Slc44a2 |
G |
A |
9: 21,259,691 (GRCm39) |
V613M |
probably damaging |
Het |
Smpdl3b |
T |
C |
4: 132,472,489 (GRCm39) |
T95A |
probably damaging |
Het |
Spag6l |
A |
T |
16: 16,610,395 (GRCm39) |
L85H |
probably damaging |
Het |
Sucla2 |
T |
A |
14: 73,806,429 (GRCm39) |
Y167N |
possibly damaging |
Het |
Svop |
G |
T |
5: 114,203,546 (GRCm39) |
|
probably benign |
Het |
Tnxb |
A |
T |
17: 34,918,041 (GRCm39) |
D2318V |
probably damaging |
Het |
Trbv14 |
A |
G |
6: 41,112,332 (GRCm39) |
D43G |
probably benign |
Het |
Ubn2 |
A |
G |
6: 38,499,240 (GRCm39) |
|
probably benign |
Het |
Ufsp1 |
T |
C |
5: 137,293,569 (GRCm39) |
I173T |
probably damaging |
Het |
Zbtb40 |
A |
G |
4: 136,746,072 (GRCm39) |
|
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 |
R4080:Gpat2
|
UTSW |
2 |
127,275,542 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- TGCAGTGAGTGTTCCCAGTG -3'
(R):5'- ATCCCAATCTGACTTCAGCC -3'
Sequencing Primer
(F):5'- CCAAGGGTGTAGGGTCTGC -3'
(R):5'- ATCTGACTTCAGCCCTAAAGG -3'
|
Posted On |
2015-11-11 |