Incidental Mutation 'R6380:Gpat2'
ID |
515250 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpat2
|
Ensembl Gene |
ENSMUSG00000046338 |
Gene Name |
glycerol-3-phosphate acyltransferase 2, mitochondrial |
Synonyms |
A530057A03Rik, Gpat2 |
MMRRC Submission |
044529-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6380 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
127267119-127278012 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 127273838 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 294
(G294R)
|
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: G294R
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000049619 Gene: ENSMUSG00000046338 AA Change: G294R
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 |
0.3984 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.5%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
G |
A |
6: 91,900,118 (GRCm39) |
G424D |
probably damaging |
Het |
Aco1 |
T |
C |
4: 40,185,028 (GRCm39) |
V566A |
probably benign |
Het |
Adat1 |
G |
T |
8: 112,704,704 (GRCm39) |
T414K |
probably benign |
Het |
Alox12e |
A |
G |
11: 70,211,927 (GRCm39) |
V194A |
probably benign |
Het |
Anpep |
A |
G |
7: 79,491,644 (GRCm39) |
V119A |
probably benign |
Het |
Atat1 |
C |
A |
17: 36,219,849 (GRCm39) |
|
probably null |
Het |
Atp10a |
G |
A |
7: 58,469,432 (GRCm39) |
W1094* |
probably null |
Het |
Bcl11b |
T |
C |
12: 107,969,360 (GRCm39) |
R15G |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,087,456 (GRCm39) |
D4019G |
probably benign |
Het |
Btnl1 |
A |
G |
17: 34,598,468 (GRCm39) |
E28G |
probably benign |
Het |
Ccnd1 |
A |
G |
7: 144,493,306 (GRCm39) |
V42A |
probably benign |
Het |
Cdyl2 |
T |
A |
8: 117,309,923 (GRCm39) |
K344N |
probably damaging |
Het |
Cep68 |
A |
G |
11: 20,180,498 (GRCm39) |
M711T |
probably benign |
Het |
Cyp2j7 |
A |
G |
4: 96,118,211 (GRCm39) |
|
probably null |
Het |
Cyp3a25 |
A |
T |
5: 145,935,357 (GRCm39) |
D86E |
probably damaging |
Het |
Dclk1 |
G |
T |
3: 55,154,615 (GRCm39) |
R15L |
probably damaging |
Het |
Dpy19l1 |
T |
A |
9: 24,393,341 (GRCm39) |
K143* |
probably null |
Het |
Duox2 |
A |
G |
2: 122,111,483 (GRCm39) |
V1405A |
probably benign |
Het |
Filip1 |
T |
C |
9: 79,726,906 (GRCm39) |
E571G |
probably damaging |
Het |
Jph1 |
T |
C |
1: 17,162,071 (GRCm39) |
N197S |
probably damaging |
Het |
Kcnt2 |
T |
C |
1: 140,437,322 (GRCm39) |
L535S |
probably damaging |
Het |
Lepr |
C |
A |
4: 101,622,151 (GRCm39) |
S361* |
probably null |
Het |
Lfng |
T |
A |
5: 140,600,151 (GRCm39) |
|
probably null |
Het |
Lpcat2 |
G |
A |
8: 93,613,209 (GRCm39) |
A250T |
probably benign |
Het |
Mab21l4 |
G |
A |
1: 93,088,613 (GRCm39) |
|
probably null |
Het |
Map3k4 |
A |
T |
17: 12,490,954 (GRCm39) |
M159K |
possibly damaging |
Het |
Notch3 |
A |
T |
17: 32,363,533 (GRCm39) |
C1177S |
probably damaging |
Het |
Olfml2b |
C |
T |
1: 170,496,800 (GRCm39) |
P477L |
probably benign |
Het |
Or51a5 |
A |
T |
7: 102,771,136 (GRCm39) |
F281Y |
probably benign |
Het |
Or5k16 |
T |
A |
16: 58,736,627 (GRCm39) |
I126L |
probably damaging |
Het |
Or6c33 |
A |
T |
10: 129,853,782 (GRCm39) |
H184L |
probably benign |
Het |
Pald1 |
G |
T |
10: 61,186,714 (GRCm39) |
F146L |
possibly damaging |
Het |
Pcdhga1 |
A |
G |
18: 37,796,022 (GRCm39) |
D342G |
probably damaging |
Het |
Plcb2 |
T |
C |
2: 118,545,949 (GRCm39) |
S579G |
probably damaging |
Het |
Prdm16 |
A |
T |
4: 154,425,824 (GRCm39) |
S654T |
probably benign |
Het |
Rab3gap2 |
C |
A |
1: 184,968,181 (GRCm39) |
L178I |
probably damaging |
Het |
Rbfox1 |
C |
T |
16: 7,042,214 (GRCm39) |
Q23* |
probably null |
Het |
Slc14a2 |
T |
G |
18: 78,190,190 (GRCm39) |
T920P |
probably benign |
Het |
Slc17a6 |
G |
A |
7: 51,317,211 (GRCm39) |
V411M |
probably benign |
Het |
Stard6 |
G |
A |
18: 70,609,459 (GRCm39) |
V33I |
probably benign |
Het |
Syce1 |
A |
T |
7: 140,358,978 (GRCm39) |
H178Q |
probably damaging |
Het |
Syne2 |
T |
A |
12: 76,151,754 (GRCm39) |
F1872I |
probably damaging |
Het |
Tor1aip1 |
T |
C |
1: 155,894,234 (GRCm39) |
E274G |
possibly damaging |
Het |
Trpm1 |
A |
T |
7: 63,918,045 (GRCm39) |
T462S |
probably benign |
Het |
Ugt3a1 |
C |
T |
15: 9,306,541 (GRCm39) |
A230V |
probably benign |
Het |
Vmn1r178 |
A |
G |
7: 23,592,984 (GRCm39) |
T11A |
possibly damaging |
Het |
Vmn2r69 |
A |
T |
7: 85,061,067 (GRCm39) |
N172K |
probably benign |
Het |
Whrn |
G |
T |
4: 63,336,829 (GRCm39) |
P136T |
possibly damaging |
Het |
Zfhx4 |
A |
G |
3: 5,478,170 (GRCm39) |
N3570S |
probably damaging |
Het |
Zfp689 |
A |
G |
7: 127,043,968 (GRCm39) |
S221P |
probably damaging |
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 |
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 |
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'- CAACTCAGAGGGCATCCTTG -3'
(R):5'- ACATTGTGCCACCCAGAACTG -3'
Sequencing Primer
(F):5'- CATCCTTGCAAGGGCTGTG -3'
(R):5'- GGTTGATAATCTACTCGGATCCCAG -3'
|
Posted On |
2018-05-04 |