Incidental Mutation 'R3410:Gpat2'
ID |
258447 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpat2
|
Ensembl Gene |
ENSMUSG00000046338 |
Gene Name |
glycerol-3-phosphate acyltransferase 2, mitochondrial |
Synonyms |
A530057A03Rik, Gpat2 |
MMRRC Submission |
040628-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3410 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
127267119-127278012 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 127270211 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 75
(V75M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049619
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062211]
|
AlphaFold |
Q14DK4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062211
AA Change: V75M
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000049619 Gene: ENSMUSG00000046338 AA Change: V75M
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 |
|
Meta Mutation Damage Score |
0.5699 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad2 |
T |
C |
8: 120,342,708 (GRCm39) |
V418A |
probably benign |
Het |
Adamts16 |
T |
C |
13: 70,901,345 (GRCm39) |
T911A |
probably benign |
Het |
Adgra1 |
T |
C |
7: 139,427,619 (GRCm39) |
F62S |
possibly damaging |
Het |
Adgra3 |
A |
G |
5: 50,159,272 (GRCm39) |
V326A |
probably damaging |
Het |
Adgrg6 |
A |
G |
10: 14,316,114 (GRCm39) |
F569S |
probably benign |
Het |
Alcam |
T |
C |
16: 52,130,261 (GRCm39) |
T30A |
probably null |
Het |
Arnt2 |
G |
A |
7: 83,924,655 (GRCm39) |
R391W |
probably damaging |
Het |
Ascc3 |
T |
C |
10: 50,576,196 (GRCm39) |
V817A |
probably damaging |
Het |
Atp13a4 |
G |
T |
16: 29,232,567 (GRCm39) |
T923K |
probably damaging |
Het |
Atp5po |
C |
T |
16: 91,725,794 (GRCm39) |
R64H |
probably damaging |
Het |
Ccdc185 |
T |
G |
1: 182,576,313 (GRCm39) |
Q125H |
possibly damaging |
Het |
Ccdc88a |
T |
A |
11: 29,436,006 (GRCm39) |
C10S |
probably damaging |
Het |
Cct2 |
T |
C |
10: 116,897,968 (GRCm39) |
N73S |
probably benign |
Het |
Clock |
G |
A |
5: 76,377,401 (GRCm39) |
Q633* |
probably null |
Het |
Col6a2 |
T |
C |
10: 76,439,193 (GRCm39) |
I826V |
probably benign |
Het |
Cpsf1 |
G |
T |
15: 76,485,981 (GRCm39) |
Y396* |
probably null |
Het |
Dnah1 |
A |
T |
14: 30,991,774 (GRCm39) |
M3076K |
possibly damaging |
Het |
Dxo |
A |
G |
17: 35,057,825 (GRCm39) |
N177D |
probably damaging |
Het |
Fbxw28 |
A |
T |
9: 109,167,472 (GRCm39) |
V95E |
possibly damaging |
Het |
Galnt6 |
T |
C |
15: 100,597,018 (GRCm39) |
N383D |
probably damaging |
Het |
Grik5 |
T |
C |
7: 24,762,397 (GRCm39) |
D198G |
probably benign |
Het |
Gsdmc4 |
A |
G |
15: 63,763,895 (GRCm39) |
S401P |
probably benign |
Het |
Gspt1 |
A |
T |
16: 11,047,109 (GRCm39) |
D435E |
probably damaging |
Het |
Hsf2 |
T |
C |
10: 57,381,378 (GRCm39) |
S266P |
probably damaging |
Het |
Jade2 |
T |
C |
11: 51,708,050 (GRCm39) |
D721G |
probably benign |
Het |
Klhl7 |
G |
T |
5: 24,343,319 (GRCm39) |
V212L |
probably damaging |
Het |
Klra17 |
T |
A |
6: 129,851,809 (GRCm39) |
N21I |
probably damaging |
Het |
L3mbtl3 |
T |
C |
10: 26,215,197 (GRCm39) |
N196S |
unknown |
Het |
Lama3 |
G |
C |
18: 12,546,915 (GRCm39) |
|
probably null |
Het |
Mcm5 |
T |
C |
8: 75,848,272 (GRCm39) |
M507T |
possibly damaging |
Het |
Mycbp2 |
T |
C |
14: 103,372,553 (GRCm39) |
R814G |
probably damaging |
Het |
Nlrp4b |
A |
G |
7: 10,449,456 (GRCm39) |
E186G |
probably damaging |
Het |
Nlrp4c |
A |
G |
7: 6,095,569 (GRCm39) |
K816E |
possibly damaging |
Het |
Nod1 |
G |
T |
6: 54,921,902 (GRCm39) |
R139S |
probably benign |
Het |
Nudcd1 |
T |
C |
15: 44,284,207 (GRCm39) |
M60V |
probably benign |
Het |
Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
Or5p63 |
G |
A |
7: 107,811,490 (GRCm39) |
P82L |
possibly damaging |
Het |
Or5p69 |
A |
T |
7: 107,967,551 (GRCm39) |
I285F |
possibly damaging |
Het |
Or8g28 |
G |
T |
9: 39,169,897 (GRCm39) |
Q24K |
possibly damaging |
Het |
Ovol2 |
A |
G |
2: 144,159,796 (GRCm39) |
S82P |
probably benign |
Het |
Ppl |
T |
C |
16: 4,925,381 (GRCm39) |
E86G |
possibly damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ripk4 |
T |
C |
16: 97,545,157 (GRCm39) |
T497A |
probably benign |
Het |
Scml4 |
A |
G |
10: 42,833,667 (GRCm39) |
Y327C |
probably damaging |
Het |
Serpina3n |
A |
G |
12: 104,377,536 (GRCm39) |
E263G |
possibly damaging |
Het |
Six4 |
A |
G |
12: 73,159,657 (GRCm39) |
F101S |
probably damaging |
Het |
Sltm |
T |
G |
9: 70,493,240 (GRCm39) |
L728V |
probably damaging |
Het |
Sptb |
T |
G |
12: 76,657,589 (GRCm39) |
K1311Q |
possibly damaging |
Het |
Sycp1 |
T |
C |
3: 102,748,357 (GRCm39) |
K812E |
possibly damaging |
Het |
Tenm4 |
T |
C |
7: 96,501,737 (GRCm39) |
Y1314H |
probably damaging |
Het |
Tmem67 |
A |
T |
4: 12,073,952 (GRCm39) |
M288K |
probably benign |
Het |
Toporsl |
T |
C |
4: 52,610,970 (GRCm39) |
S288P |
probably benign |
Het |
Ttn |
A |
C |
2: 76,772,749 (GRCm39) |
N2415K |
possibly damaging |
Het |
Vmn2r65 |
T |
C |
7: 84,595,896 (GRCm39) |
I263V |
probably benign |
Het |
Vmn2r89 |
A |
T |
14: 51,693,628 (GRCm39) |
E326V |
probably damaging |
Het |
Wdr81 |
A |
G |
11: 75,343,758 (GRCm39) |
I503T |
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 |
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 |
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'- AGACAGCTCATGGGAAATGTACTC -3'
(R):5'- TATAGGCCTTAGTCCCACCC -3'
Sequencing Primer
(F):5'- GCTCATGGGAAATGTACTCTATACC -3'
(R):5'- AGTGGCTCTACACCTTACAGG -3'
|
Posted On |
2015-01-23 |