Incidental Mutation 'R6384:Gpat2'
ID |
515487 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpat2
|
Ensembl Gene |
ENSMUSG00000046338 |
Gene Name |
glycerol-3-phosphate acyltransferase 2, mitochondrial |
Synonyms |
A530057A03Rik, Gpat2 |
MMRRC Submission |
044533-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6384 (G1)
|
Quality Score |
225.009 |
Status
|
Not 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: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
T |
A |
5: 121,790,066 (GRCm39) |
T97S |
probably benign |
Het |
Adam34 |
T |
A |
8: 44,103,836 (GRCm39) |
D603V |
probably benign |
Het |
Adamts5 |
C |
T |
16: 85,659,716 (GRCm39) |
V859I |
probably benign |
Het |
Alb |
T |
A |
5: 90,620,499 (GRCm39) |
D536E |
possibly damaging |
Het |
Amz2 |
A |
G |
11: 109,319,860 (GRCm39) |
Y82C |
probably damaging |
Het |
Asxl1 |
T |
C |
2: 153,233,744 (GRCm39) |
|
probably null |
Het |
Bach1 |
C |
T |
16: 87,516,745 (GRCm39) |
Q429* |
probably null |
Het |
Bcl6 |
A |
G |
16: 23,793,615 (GRCm39) |
Y111H |
probably damaging |
Het |
Ccnj |
T |
C |
19: 40,834,451 (GRCm39) |
V338A |
probably benign |
Het |
Cdca3 |
C |
T |
6: 124,809,382 (GRCm39) |
P174L |
probably damaging |
Het |
Cdk17 |
T |
C |
10: 93,047,827 (GRCm39) |
L25P |
probably damaging |
Het |
Cdr2 |
G |
A |
7: 120,581,351 (GRCm39) |
|
probably null |
Het |
Cyp2c38 |
A |
T |
19: 39,380,737 (GRCm39) |
|
probably null |
Het |
Ednra |
T |
C |
8: 78,415,723 (GRCm39) |
N175D |
probably damaging |
Het |
Elp3 |
T |
C |
14: 65,797,660 (GRCm39) |
Y337C |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Eps15l1 |
A |
T |
8: 73,122,554 (GRCm39) |
|
probably null |
Het |
F11r |
A |
G |
1: 171,288,508 (GRCm39) |
N117S |
probably benign |
Het |
Foxp2 |
C |
T |
6: 15,437,947 (GRCm39) |
T716I |
probably damaging |
Het |
Gnaq |
A |
G |
19: 16,293,377 (GRCm39) |
|
probably null |
Het |
Gpr158 |
T |
C |
2: 21,831,099 (GRCm39) |
M733T |
probably damaging |
Het |
Hdac7 |
G |
A |
15: 97,709,387 (GRCm39) |
Q48* |
probably null |
Het |
Hmga2 |
G |
A |
10: 120,206,612 (GRCm39) |
|
probably benign |
Het |
Itgb7 |
A |
G |
15: 102,132,886 (GRCm39) |
V142A |
probably benign |
Het |
Kif5a |
T |
C |
10: 127,078,644 (GRCm39) |
N334D |
probably damaging |
Het |
Lrrc47 |
T |
C |
4: 154,100,317 (GRCm39) |
S298P |
probably benign |
Het |
Map3k1 |
A |
T |
13: 111,887,064 (GRCm39) |
S1415R |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,670,607 (GRCm39) |
L424Q |
probably damaging |
Het |
Numb |
A |
C |
12: 83,850,748 (GRCm39) |
L154R |
probably damaging |
Het |
Or8g27 |
T |
C |
9: 39,129,274 (GRCm39) |
V207A |
probably benign |
Het |
Or8k30 |
A |
G |
2: 86,339,381 (GRCm39) |
K193E |
probably benign |
Het |
Pdcd5 |
G |
T |
7: 35,346,334 (GRCm39) |
A92E |
possibly damaging |
Het |
Pdcl2 |
C |
T |
5: 76,478,855 (GRCm39) |
|
probably null |
Het |
Rbfa |
T |
C |
18: 80,235,996 (GRCm39) |
Y251C |
probably damaging |
Het |
Rgsl1 |
G |
A |
1: 153,703,291 (GRCm39) |
T120I |
possibly damaging |
Het |
Serpina3g |
A |
G |
12: 104,206,655 (GRCm39) |
Q152R |
probably null |
Het |
Setx |
T |
C |
2: 29,063,570 (GRCm39) |
S2289P |
probably damaging |
Het |
Slc6a16 |
A |
G |
7: 44,907,017 (GRCm39) |
|
probably null |
Het |
Slco1a6 |
C |
T |
6: 142,055,105 (GRCm39) |
D280N |
probably benign |
Het |
Syde2 |
T |
A |
3: 145,704,568 (GRCm39) |
Y240N |
probably damaging |
Het |
Synpo2 |
G |
A |
3: 122,906,698 (GRCm39) |
Q873* |
probably null |
Het |
Tlr2 |
A |
G |
3: 83,744,301 (GRCm39) |
V594A |
probably benign |
Het |
Ttc16 |
C |
T |
2: 32,657,561 (GRCm39) |
A512T |
probably damaging |
Het |
Tubb5 |
T |
C |
17: 36,148,938 (GRCm39) |
E3G |
probably damaging |
Het |
Vmn2r112 |
T |
C |
17: 22,824,136 (GRCm39) |
Y464H |
probably damaging |
Het |
Xcr1 |
T |
A |
9: 123,684,847 (GRCm39) |
H305L |
probably damaging |
Het |
Yars1 |
T |
G |
4: 129,090,771 (GRCm39) |
|
probably null |
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 |
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 |
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'- AACTCAGAGGGCATCCTTGC -3'
(R):5'- AACATTGTGCCACCCAGAACTG -3'
Sequencing Primer
(F):5'- CATCCTTGCAAGGGCTGTG -3'
(R):5'- GGTTGATAATCTACTCGGATCCCAG -3'
|
Posted On |
2018-05-04 |