Incidental Mutation 'R4636:Gpat3'
| ID |
350733 |
| 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 # |
R4636 (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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apcs |
T |
C |
1: 172,721,989 (GRCm39) |
E119G |
probably damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,251,876 (GRCm39) |
T876A |
probably benign |
Het |
| Arih2 |
A |
T |
9: 108,491,013 (GRCm39) |
C227S |
probably damaging |
Het |
| Bsn |
A |
T |
9: 107,992,623 (GRCm39) |
L1043Q |
probably damaging |
Het |
| Cyp2d34 |
G |
C |
15: 82,504,929 (GRCm39) |
P44A |
probably damaging |
Het |
| Ddx59 |
T |
A |
1: 136,360,301 (GRCm39) |
N438K |
probably damaging |
Het |
| Esr2 |
A |
G |
12: 76,170,098 (GRCm39) |
M447T |
possibly damaging |
Het |
| Fam131b |
A |
G |
6: 42,297,914 (GRCm39) |
S92P |
probably damaging |
Het |
| Galnt9 |
A |
G |
5: 110,763,365 (GRCm39) |
M457V |
probably damaging |
Het |
| Gorasp2 |
T |
A |
2: 70,509,836 (GRCm39) |
Y166N |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,266,983 (GRCm39) |
E4308G |
possibly damaging |
Het |
| Mrpl1 |
G |
T |
5: 96,358,034 (GRCm39) |
V5L |
probably benign |
Het |
| Nifk |
T |
A |
1: 118,257,217 (GRCm39) |
Y117N |
possibly damaging |
Het |
| Notch2 |
A |
G |
3: 98,053,420 (GRCm39) |
K2028E |
probably benign |
Het |
| Or4a76 |
A |
C |
2: 89,460,516 (GRCm39) |
I242S |
possibly damaging |
Het |
| Prpf3 |
A |
G |
3: 95,741,482 (GRCm39) |
F558S |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,169,660 (GRCm39) |
|
probably null |
Het |
| Rasa2 |
C |
T |
9: 96,426,390 (GRCm39) |
D819N |
probably benign |
Het |
| Rbl1 |
T |
A |
2: 157,009,340 (GRCm39) |
T732S |
possibly damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,239,007 (GRCm39) |
V204A |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,643,937 (GRCm39) |
L13097R |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,661,568 (GRCm39) |
E280G |
probably benign |
Het |
| Znhit6 |
G |
T |
3: 145,306,334 (GRCm39) |
V280L |
probably null |
Het |
| Znhit6 |
A |
G |
3: 145,306,333 (GRCm39) |
|
silent |
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 |
|
|
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 |
|
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'- CTGCATAGACCAACTTCCAATTG -3'
Sequencing Primer
(F):5'- ATCAGAGGTTCCCTGGGGTCTC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation