Incidental Mutation 'R7031:Gpat2'
| ID |
546309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpat2
|
| Ensembl Gene |
ENSMUSG00000046338 |
| Gene Name |
glycerol-3-phosphate acyltransferase 2, mitochondrial |
| Synonyms |
A530057A03Rik, Gpat2 |
| MMRRC Submission |
045132-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7031 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
127267119-127278012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127277395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 745
(E745G)
|
| 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: E745G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000049619
Gene: ENSMUSG00000046338
AA Change: E745G
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,833,058 (GRCm39) |
N39S |
probably benign |
Het |
| Abca13 |
C |
T |
11: 9,571,892 (GRCm39) |
R4818C |
probably damaging |
Het |
| Acadsb |
A |
G |
7: 131,045,366 (GRCm39) |
I433V |
probably benign |
Het |
| Acsl3 |
T |
A |
1: 78,666,000 (GRCm39) |
I142N |
probably benign |
Het |
| Api5 |
G |
A |
2: 94,255,961 (GRCm39) |
T242M |
probably benign |
Het |
| Brme1 |
C |
A |
8: 84,893,313 (GRCm39) |
P160Q |
possibly damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,911,323 (GRCm39) |
E37G |
probably damaging |
Het |
| Cfap96 |
T |
C |
8: 46,421,140 (GRCm39) |
I128V |
probably benign |
Het |
| Cntnap4 |
C |
A |
8: 113,584,874 (GRCm39) |
Q1104K |
probably benign |
Het |
| Cry1 |
A |
G |
10: 84,984,526 (GRCm39) |
S183P |
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 130,910,580 (GRCm39) |
F572I |
probably benign |
Het |
| Dcbld1 |
A |
T |
10: 52,166,985 (GRCm39) |
D104V |
probably damaging |
Het |
| Dhh |
C |
T |
15: 98,791,907 (GRCm39) |
G367E |
possibly damaging |
Het |
| Dhx15 |
T |
C |
5: 52,341,931 (GRCm39) |
D129G |
probably benign |
Het |
| Drd3 |
T |
A |
16: 43,582,861 (GRCm39) |
V86E |
probably damaging |
Het |
| Ebf1 |
A |
G |
11: 44,512,795 (GRCm39) |
T135A |
possibly damaging |
Het |
| Epha5 |
T |
C |
5: 84,290,159 (GRCm39) |
I428V |
probably benign |
Het |
| Epx |
T |
A |
11: 87,766,349 (GRCm39) |
|
probably benign |
Het |
| Fam83d |
T |
A |
2: 158,627,227 (GRCm39) |
N305K |
probably benign |
Het |
| Gchfr |
T |
A |
2: 119,000,236 (GRCm39) |
V39D |
probably benign |
Het |
| Ggnbp2 |
A |
G |
11: 84,751,467 (GRCm39) |
L111P |
probably damaging |
Het |
| Gnal |
G |
A |
18: 67,355,659 (GRCm39) |
G340D |
probably damaging |
Het |
| Gpbp1l1 |
C |
T |
4: 116,450,045 (GRCm39) |
R438C |
probably damaging |
Het |
| Hmgxb4 |
C |
T |
8: 75,756,200 (GRCm39) |
Q171* |
probably null |
Het |
| Igkv4-91 |
G |
T |
6: 68,745,542 (GRCm39) |
R119S |
possibly damaging |
Het |
| Ing2 |
T |
C |
8: 48,121,858 (GRCm39) |
D230G |
probably benign |
Het |
| Itfg2 |
A |
G |
6: 128,393,017 (GRCm39) |
V82A |
probably damaging |
Het |
| Klhl22 |
T |
C |
16: 17,594,890 (GRCm39) |
S340P |
probably damaging |
Het |
| Lipm |
A |
T |
19: 34,093,871 (GRCm39) |
M263L |
probably benign |
Het |
| Ly96 |
A |
T |
1: 16,758,787 (GRCm39) |
E19V |
possibly damaging |
Het |
| Mark1 |
C |
T |
1: 184,644,829 (GRCm39) |
E376K |
possibly damaging |
Het |
| Mlip |
T |
A |
9: 77,045,835 (GRCm39) |
M375L |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,815,673 (GRCm39) |
N26Y |
probably benign |
Het |
| Or2ad1 |
C |
T |
13: 21,327,170 (GRCm39) |
S19N |
probably benign |
Het |
| Or55b3 |
T |
A |
7: 102,127,057 (GRCm39) |
T7S |
probably benign |
Het |
| Or5m3 |
C |
T |
2: 85,838,939 (GRCm39) |
A273V |
probably benign |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,308,690 (GRCm39) |
|
probably null |
Het |
| Rgs4 |
T |
C |
1: 169,571,336 (GRCm39) |
T178A |
probably benign |
Het |
| Sel1l2 |
T |
A |
2: 140,182,043 (GRCm39) |
K31N |
possibly damaging |
Het |
| Serpinf1 |
T |
C |
11: 75,301,022 (GRCm39) |
R398G |
probably damaging |
Het |
| Sgo2b |
C |
T |
8: 64,393,078 (GRCm39) |
E120K |
possibly damaging |
Het |
| Stard9 |
T |
C |
2: 120,530,931 (GRCm39) |
F2396S |
possibly damaging |
Het |
| Trgv6 |
G |
A |
13: 19,374,610 (GRCm39) |
E25K |
probably benign |
Het |
| Trpc3 |
A |
C |
3: 36,675,459 (GRCm39) |
I893S |
probably benign |
Het |
| Trpc4ap |
C |
A |
2: 155,534,135 (GRCm39) |
R31L |
unknown |
Het |
| Vat1l |
A |
G |
8: 114,998,172 (GRCm39) |
R239G |
possibly damaging |
Het |
| Vmn1r56 |
T |
A |
7: 5,199,261 (GRCm39) |
R119* |
probably null |
Het |
| Vmn2r111 |
T |
C |
17: 22,790,226 (GRCm39) |
Y260C |
probably damaging |
Het |
| Zfp664 |
A |
G |
5: 124,963,070 (GRCm39) |
T155A |
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 |
|
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 |
|
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'- AAGGGATCTTTGGTGAGTTCCAAG -3'
(R):5'- AGGATGTTAGAGCCTCCACCAC -3'
Sequencing Primer
(F):5'- TGGTGAGTTCCAAGCCCCATC -3'
(R):5'- GTTAGAGCCTCCACCACTACCC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation