Incidental Mutation 'R2444:Gpat3'
| ID |
249908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpat3
|
| Ensembl Gene |
ENSMUSG00000029314 |
| Gene Name |
glycerol-3-phosphate acyltransferase 3 |
| Synonyms |
4933407I02Rik, Agpat9, A230097K15Rik |
| MMRRC Submission |
040402-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R2444 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
100994095-101046968 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101005039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 58
(P58L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031255]
[ENSMUST00000092990]
[ENSMUST00000112887]
|
| AlphaFold |
Q8C0N2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031255
AA Change: P58L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031255
Gene: ENSMUSG00000029314
AA Change: P58L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Blast:PlsC
|
99 |
160 |
7e-6 |
BLAST |
|
low complexity region
|
166 |
177 |
N/A |
INTRINSIC |
|
PlsC
|
223 |
334 |
5.96e-22 |
SMART |
|
Blast:PlsC
|
348 |
396 |
2e-22 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092990
AA Change: P58L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090667
Gene: ENSMUSG00000029314
AA Change: P58L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Blast:PlsC
|
99 |
160 |
7e-6 |
BLAST |
|
low complexity region
|
166 |
177 |
N/A |
INTRINSIC |
|
PlsC
|
223 |
334 |
5.96e-22 |
SMART |
|
Blast:PlsC
|
348 |
396 |
2e-22 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112887
AA Change: P58L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108508
Gene: ENSMUSG00000029314
AA Change: P58L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Blast:PlsC
|
99 |
160 |
7e-6 |
BLAST |
|
low complexity region
|
166 |
177 |
N/A |
INTRINSIC |
|
PlsC
|
223 |
334 |
5.96e-22 |
SMART |
|
Blast:PlsC
|
348 |
396 |
2e-22 |
BLAST |
|
| Meta Mutation Damage Score |
0.0605 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lysophosphatidic acid acyltransferase protein family. The encoded protein is an enzyme which catalyzes the conversion of glycerol-3-phosphate to lysophosphatidic acid in the synthesis of triacylglycerol. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012]
PHENOTYPE: Under high-fat feeding, mice homozygous for a knock-out allele exhibit increased energy expenditure, improved glucose homeostasis, enlarged livers, increased total serum cholesterol levels, altered liver cholesterol metabolism, and female-specific protection from diet-induced obesity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
A |
T |
10: 78,904,561 (GRCm39) |
D112E |
possibly damaging |
Het |
| Abca15 |
A |
G |
7: 119,965,120 (GRCm39) |
Y794C |
probably damaging |
Het |
| Bicd2 |
T |
C |
13: 49,532,500 (GRCm39) |
V362A |
probably benign |
Het |
| Cep126 |
G |
A |
9: 8,101,307 (GRCm39) |
T409M |
probably damaging |
Het |
| Cep131 |
A |
G |
11: 119,961,321 (GRCm39) |
F610S |
probably damaging |
Het |
| Cfap61 |
T |
C |
2: 145,877,239 (GRCm39) |
|
probably null |
Het |
| Chd1l |
A |
G |
3: 97,497,882 (GRCm39) |
Y320H |
probably damaging |
Het |
| Dnajc30 |
A |
G |
5: 135,093,439 (GRCm39) |
D112G |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,196,289 (GRCm39) |
D486G |
possibly damaging |
Het |
| Fam184a |
A |
C |
10: 53,517,045 (GRCm39) |
L410R |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,172,799 (GRCm39) |
N2638S |
probably damaging |
Het |
| Fgf15 |
A |
G |
7: 144,453,429 (GRCm39) |
D134G |
probably benign |
Het |
| Flywch2 |
A |
T |
17: 23,996,024 (GRCm39) |
S124R |
possibly damaging |
Het |
| Gabra5 |
G |
A |
7: 57,058,623 (GRCm39) |
T375I |
probably benign |
Het |
| Hltf |
T |
A |
3: 20,118,071 (GRCm39) |
N44K |
possibly damaging |
Het |
| Hoatz |
A |
G |
9: 51,011,298 (GRCm39) |
|
probably null |
Het |
| Kcnb2 |
A |
T |
1: 15,779,791 (GRCm39) |
N221I |
probably benign |
Het |
| Marco |
G |
A |
1: 120,422,499 (GRCm39) |
T61M |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,222,786 (GRCm39) |
I180T |
probably damaging |
Het |
| Mei1 |
C |
T |
15: 81,997,142 (GRCm39) |
T626M |
probably damaging |
Het |
| Mtnr1a |
C |
T |
8: 45,540,695 (GRCm39) |
Q219* |
probably null |
Het |
| Nav3 |
A |
G |
10: 109,600,776 (GRCm39) |
S1284P |
probably benign |
Het |
| Or1j10 |
T |
C |
2: 36,267,625 (GRCm39) |
V279A |
possibly damaging |
Het |
| Or7g30 |
T |
A |
9: 19,352,311 (GRCm39) |
I34K |
possibly damaging |
Het |
| Pcdh9 |
T |
A |
14: 94,124,227 (GRCm39) |
T648S |
probably benign |
Het |
| Proz |
A |
T |
8: 13,111,027 (GRCm39) |
|
probably benign |
Het |
| Rec114 |
G |
T |
9: 58,567,602 (GRCm39) |
A128E |
probably damaging |
Het |
| Rspry1 |
G |
T |
8: 95,349,735 (GRCm39) |
G41V |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 109,929,905 (GRCm39) |
M1388K |
probably benign |
Het |
| Spice1 |
C |
T |
16: 44,186,931 (GRCm39) |
Q143* |
probably null |
Het |
| Tcstv3 |
A |
T |
13: 120,779,365 (GRCm39) |
K88M |
probably damaging |
Het |
| Terb2 |
T |
A |
2: 122,023,788 (GRCm39) |
|
probably null |
Het |
| Tmx3 |
A |
T |
18: 90,558,307 (GRCm39) |
K453M |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,933,200 (GRCm39) |
Y688C |
probably damaging |
Het |
| Tshz2 |
T |
G |
2: 169,726,726 (GRCm39) |
S441A |
probably benign |
Het |
| Usp45 |
A |
T |
4: 21,817,528 (GRCm39) |
M399L |
probably benign |
Het |
| Vmn2r82 |
A |
T |
10: 79,213,702 (GRCm39) |
H96L |
possibly damaging |
Het |
| Wls |
G |
A |
3: 159,612,867 (GRCm39) |
R261Q |
probably damaging |
Het |
|
| Other mutations in Gpat3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00848:Gpat3
|
APN |
5 |
101,041,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1429:Gpat3
|
UTSW |
5 |
101,040,953 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1539:Gpat3
|
UTSW |
5 |
101,031,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1830:Gpat3
|
UTSW |
5 |
101,041,046 (GRCm39) |
missense |
probably benign |
|
|
R2030:Gpat3
|
UTSW |
5 |
101,045,687 (GRCm39) |
missense |
probably benign |
|
|
R2440:Gpat3
|
UTSW |
5 |
101,005,039 (GRCm39) |
missense |
probably benign |
|
|
R3039:Gpat3
|
UTSW |
5 |
101,045,671 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R3813:Gpat3
|
UTSW |
5 |
101,039,505 (GRCm39) |
splice site |
probably benign |
|
|
R3830:Gpat3
|
UTSW |
5 |
101,032,252 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4636:Gpat3
|
UTSW |
5 |
101,005,039 (GRCm39) |
missense |
probably benign |
|
|
R4637:Gpat3
|
UTSW |
5 |
101,005,039 (GRCm39) |
missense |
probably benign |
|
|
R4679:Gpat3
|
UTSW |
5 |
101,041,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Gpat3
|
UTSW |
5 |
101,005,039 (GRCm39) |
missense |
probably benign |
|
|
R5229:Gpat3
|
UTSW |
5 |
101,031,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5661:Gpat3
|
UTSW |
5 |
101,033,808 (GRCm39) |
nonsense |
probably null |
|
|
R6383:Gpat3
|
UTSW |
5 |
101,041,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8064:Gpat3
|
UTSW |
5 |
101,039,522 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8234:Gpat3
|
UTSW |
5 |
101,005,076 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9047:Gpat3
|
UTSW |
5 |
100,994,788 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9180:Gpat3
|
UTSW |
5 |
101,032,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0023:Gpat3
|
UTSW |
5 |
101,033,826 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTACATCAGAGGTTCCCTG -3'
(R):5'- TCTGCATAGACCAACTTCCAATTG -3'
Sequencing Primer
(F):5'- ATCAGAGGTTCCCTGGGGTCTC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation