Incidental Mutation 'R2440:Gpat3'
| ID |
249757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpat3
|
| Ensembl Gene |
ENSMUSG00000029314 |
| Gene Name |
glycerol-3-phosphate acyltransferase 3 |
| Synonyms |
4933407I02Rik, Agpat9, A230097K15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R2440 (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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
T |
C |
15: 59,888,129 (GRCm39) |
T104A |
probably benign |
Het |
| Adar |
A |
G |
3: 89,642,161 (GRCm39) |
H14R |
possibly damaging |
Het |
| Albfm1 |
A |
G |
5: 90,720,548 (GRCm39) |
|
probably null |
Het |
| Alcam |
T |
A |
16: 52,125,976 (GRCm39) |
M114L |
probably damaging |
Het |
| Ccn4 |
T |
A |
15: 66,784,706 (GRCm39) |
D126E |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,171,960 (GRCm39) |
Y75H |
possibly damaging |
Het |
| Coch |
T |
C |
12: 51,643,345 (GRCm39) |
S122P |
probably damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,864,738 (GRCm39) |
K247E |
probably benign |
Het |
| Gm1527 |
A |
G |
3: 28,949,764 (GRCm39) |
D8G |
probably damaging |
Het |
| Itga8 |
G |
A |
2: 12,183,491 (GRCm39) |
T751I |
possibly damaging |
Het |
| Kif5a |
A |
G |
10: 127,067,205 (GRCm39) |
V904A |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,492,321 (GRCm39) |
E269G |
probably benign |
Het |
| Or12j5 |
T |
A |
7: 140,083,465 (GRCm39) |
K302N |
probably benign |
Het |
| Pde4d |
A |
G |
13: 110,063,731 (GRCm39) |
|
probably benign |
Het |
| Rita1 |
T |
C |
5: 120,748,004 (GRCm39) |
Y98C |
probably damaging |
Het |
| Surf1 |
A |
G |
2: 26,803,919 (GRCm39) |
|
probably null |
Het |
| Sv2c |
A |
G |
13: 96,185,084 (GRCm39) |
Y198H |
probably damaging |
Het |
| Svs3a |
T |
C |
2: 164,131,551 (GRCm39) |
F41L |
possibly damaging |
Het |
| Tigd2 |
A |
G |
6: 59,186,980 (GRCm39) |
|
probably benign |
Het |
| Tubb4a |
C |
A |
17: 57,393,285 (GRCm39) |
G38W |
probably damaging |
Het |
| Tyrp1 |
G |
A |
4: 80,764,843 (GRCm39) |
V7I |
probably benign |
Het |
| Unc45a |
A |
G |
7: 79,978,805 (GRCm39) |
Y615H |
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 |
|
|
R2444: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'- TGTACATCAGAGGTTCCCTGG -3'
(R):5'- TCTGCATAGACCAACTTCCAATTG -3'
Sequencing Primer
(F):5'- ATCAGAGGTTCCCTGGGGTCTC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation