Incidental Mutation 'R6382:Gpat2'
| ID |
515354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpat2
|
| Ensembl Gene |
ENSMUSG00000046338 |
| Gene Name |
glycerol-3-phosphate acyltransferase 2, mitochondrial |
| Synonyms |
A530057A03Rik, Gpat2 |
| MMRRC Submission |
044531-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6382 (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: 99.4%
- 20x: 97.5%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
T |
A |
16: 8,418,850 (GRCm39) |
M148K |
probably benign |
Het |
| Aldoc |
T |
C |
11: 78,216,568 (GRCm39) |
I242T |
probably benign |
Het |
| Camta2 |
T |
C |
11: 70,562,867 (GRCm39) |
T927A |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,261,363 (GRCm39) |
R25G |
possibly damaging |
Het |
| Cdh16 |
T |
A |
8: 105,348,175 (GRCm39) |
M181L |
possibly damaging |
Het |
| Clstn1 |
A |
T |
4: 149,710,577 (GRCm39) |
|
probably null |
Het |
| Cnot6l |
C |
A |
5: 96,276,858 (GRCm39) |
R110L |
probably damaging |
Het |
| Col7a1 |
G |
A |
9: 108,804,461 (GRCm39) |
S2264N |
unknown |
Het |
| Cspp1 |
A |
G |
1: 10,153,700 (GRCm39) |
|
probably null |
Het |
| Cul1 |
T |
A |
6: 47,479,373 (GRCm39) |
L213Q |
probably damaging |
Het |
| Cuta |
T |
C |
17: 27,157,428 (GRCm39) |
Q124R |
probably benign |
Het |
| Cyp1a1 |
T |
A |
9: 57,607,973 (GRCm39) |
N200K |
probably damaging |
Het |
| Dag1 |
C |
A |
9: 108,085,336 (GRCm39) |
A602S |
possibly damaging |
Het |
| Ftdc1 |
T |
C |
16: 58,434,273 (GRCm39) |
E148G |
possibly damaging |
Het |
| Gm4707 |
G |
A |
17: 71,766,238 (GRCm39) |
|
probably benign |
Het |
| H2-T23 |
T |
C |
17: 36,342,724 (GRCm39) |
Y138C |
probably damaging |
Het |
| Hnf4a |
A |
T |
2: 163,410,926 (GRCm39) |
M408L |
probably benign |
Het |
| Hpse2 |
A |
G |
19: 43,376,641 (GRCm39) |
L37P |
possibly damaging |
Het |
| Hsd17b6 |
A |
T |
10: 127,827,196 (GRCm39) |
I292N |
probably damaging |
Het |
| Hsp90aa1 |
A |
T |
12: 110,661,951 (GRCm39) |
|
probably null |
Het |
| Ifit1bl1 |
T |
A |
19: 34,572,283 (GRCm39) |
Y58F |
probably benign |
Het |
| Igkv10-95 |
A |
G |
6: 68,657,672 (GRCm39) |
T43A |
probably benign |
Het |
| Igkv6-17 |
C |
T |
6: 70,348,814 (GRCm39) |
Q62* |
probably null |
Het |
| Jakmip2 |
A |
G |
18: 43,704,244 (GRCm39) |
S367P |
possibly damaging |
Het |
| Lrrc40 |
A |
G |
3: 157,764,333 (GRCm39) |
D416G |
probably damaging |
Het |
| Mdm2 |
A |
G |
10: 117,528,626 (GRCm39) |
V177A |
probably benign |
Het |
| Mpp1 |
TGAGACGAACTCTCCGAG |
TGAG |
X: 74,169,375 (GRCm39) |
|
probably null |
Het |
| Myo1b |
C |
T |
1: 51,813,466 (GRCm39) |
|
probably null |
Het |
| Notch2 |
A |
G |
3: 98,048,859 (GRCm39) |
D1799G |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,890,239 (GRCm39) |
G7431D |
unknown |
Het |
| Obscn |
A |
T |
11: 58,933,034 (GRCm39) |
C4781S |
probably damaging |
Het |
| Or2a14 |
T |
A |
6: 43,130,899 (GRCm39) |
I220N |
probably damaging |
Het |
| Or7a35 |
C |
A |
10: 78,853,351 (GRCm39) |
S65Y |
probably damaging |
Het |
| Pard3 |
T |
A |
8: 128,103,264 (GRCm39) |
V411D |
probably damaging |
Het |
| Pfkl |
T |
C |
10: 77,835,671 (GRCm39) |
R246G |
probably damaging |
Het |
| Pgs1 |
T |
C |
11: 117,894,186 (GRCm39) |
Y238H |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,665,724 (GRCm39) |
E15G |
possibly damaging |
Het |
| Pja2 |
A |
G |
17: 64,616,610 (GRCm39) |
V95A |
probably benign |
Het |
| Ripor2 |
T |
C |
13: 24,861,828 (GRCm39) |
I207T |
possibly damaging |
Het |
| Rps15 |
A |
G |
10: 80,129,820 (GRCm39) |
Y115C |
probably damaging |
Het |
| Shkbp1 |
C |
A |
7: 27,051,484 (GRCm39) |
E192* |
probably null |
Het |
| Slc23a4 |
T |
A |
6: 34,933,978 (GRCm39) |
M42L |
probably benign |
Het |
| Snx25 |
T |
A |
8: 46,509,028 (GRCm39) |
S373C |
probably benign |
Het |
| Sppl2a |
A |
T |
2: 126,758,949 (GRCm39) |
|
probably null |
Het |
| Tektl1 |
G |
A |
10: 78,588,675 (GRCm39) |
T45I |
possibly damaging |
Het |
| Tpcn2 |
A |
G |
7: 144,823,486 (GRCm39) |
S256P |
possibly damaging |
Het |
| Txk |
C |
T |
5: 72,893,823 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
C |
G |
17: 47,268,241 (GRCm39) |
W991S |
possibly damaging |
Het |
| Ufc1 |
A |
G |
1: 171,122,248 (GRCm39) |
W28R |
probably damaging |
Het |
| Unc93b1 |
C |
A |
19: 3,985,297 (GRCm39) |
A35E |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,546,499 (GRCm39) |
N3425S |
probably benign |
Het |
| Vmn1r32 |
A |
G |
6: 66,530,345 (GRCm39) |
Y144H |
probably benign |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,426 (GRCm39) |
F228L |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,243,813 (GRCm39) |
N715D |
probably benign |
Het |
| Zfp933 |
T |
C |
4: 147,910,325 (GRCm39) |
S424G |
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 |
|
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'- GACAACTCAGAGGGCATCCTTG -3'
(R):5'- ACATTGTGCCACCCAGAACTG -3'
Sequencing Primer
(F):5'- CATCCTTGCAAGGGCTGTG -3'
(R):5'- GGTTGATAATCTACTCGGATCCCAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation