Incidental Mutation 'R2429:Gpd1'
| ID |
250357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpd1
|
| Ensembl Gene |
ENSMUSG00000023019 |
| Gene Name |
glycerol-3-phosphate dehydrogenase 1 (soluble) |
| Synonyms |
Gdc1, Gdc-1 |
| MMRRC Submission |
040391-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2429 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99615468-99622895 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99618488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 181
(M181V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023760]
[ENSMUST00000162194]
|
| AlphaFold |
P13707 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023760
AA Change: M181V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000023760
Gene: ENSMUSG00000023019
AA Change: M181V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_Gly3P_dh_N
|
5 |
174 |
6.2e-57 |
PFAM |
|
Pfam:NAD_Gly3P_dh_C
|
193 |
340 |
8.5e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161768
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162194
AA Change: M158V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000125164
Gene: ENSMUSG00000023019
AA Change: M158V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_Gly3P_dh_N
|
5 |
77 |
3.6e-21 |
PFAM |
|
Pfam:NAD_Gly3P_dh_N
|
71 |
151 |
1.9e-22 |
PFAM |
|
Pfam:NAD_Gly3P_dh_C
|
169 |
319 |
4.2e-60 |
PFAM |
|
| Meta Mutation Damage Score |
0.0667 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (34/34) |
| 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 NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible conversion of dihydroxyacetone phosphate (DHAP) and reduced nicotine adenine dinucleotide (NADH) to glycerol-3-phosphate (G3P) and NAD+. The encoded cytosolic protein and mitochondrial glycerol-3-phosphate dehydrogenase also form a glycerol phosphate shuttle that facilitates the transfer of reducing equivalents from the cytosol to mitochondria. Mutations in this gene are a cause of transient infantile hypertriglyceridemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a spontaneous mutation are viable and phenotypically normal but show loss of glycerol-3-phosphate dehydrogenase 1 activity in adult tissues. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930470P17Rik |
A |
T |
2: 170,421,745 (GRCm39) |
M45K |
unknown |
Het |
| Abcd3 |
A |
G |
3: 121,586,512 (GRCm39) |
F63L |
probably damaging |
Het |
| Acsm3 |
A |
T |
7: 119,367,223 (GRCm39) |
M19L |
probably benign |
Het |
| Actn4 |
T |
C |
7: 28,597,496 (GRCm39) |
K41E |
probably benign |
Het |
| Atp8b3 |
T |
A |
10: 80,362,728 (GRCm39) |
I677L |
probably benign |
Het |
| Auh |
C |
T |
13: 53,073,052 (GRCm39) |
G110R |
probably damaging |
Het |
| Batf2 |
A |
G |
19: 6,221,538 (GRCm39) |
Y116C |
probably damaging |
Het |
| Cntn6 |
T |
C |
6: 104,627,526 (GRCm39) |
Y120H |
possibly damaging |
Het |
| Gnpat |
T |
C |
8: 125,603,758 (GRCm39) |
F212S |
probably damaging |
Het |
| Itgb3 |
A |
T |
11: 104,527,914 (GRCm39) |
K216N |
probably damaging |
Het |
| Kif21a |
G |
A |
15: 90,882,208 (GRCm39) |
T32M |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,326,377 (GRCm39) |
V3477A |
probably damaging |
Het |
| Mettl13 |
A |
T |
1: 162,373,894 (GRCm39) |
L119* |
probably null |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,194,723 (GRCm39) |
N1645D |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,210,583 (GRCm39) |
|
probably null |
Het |
| Npffr2 |
A |
T |
5: 89,731,006 (GRCm39) |
Y312F |
probably damaging |
Het |
| Pla2r1 |
C |
A |
2: 60,345,312 (GRCm39) |
C348F |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,179,362 (GRCm39) |
N590S |
probably damaging |
Het |
| Prpsap1 |
G |
A |
11: 116,363,061 (GRCm39) |
T314M |
probably damaging |
Het |
| Prss35 |
T |
C |
9: 86,637,398 (GRCm39) |
V56A |
probably benign |
Het |
| Setx |
T |
C |
2: 29,069,910 (GRCm39) |
S2572P |
probably benign |
Het |
| Sf3b1 |
T |
C |
1: 55,055,960 (GRCm39) |
D93G |
possibly damaging |
Het |
| Slc26a7 |
C |
A |
4: 14,506,399 (GRCm39) |
|
probably benign |
Het |
| Slc39a12 |
T |
G |
2: 14,409,897 (GRCm39) |
S298A |
probably benign |
Het |
| Sorl1 |
G |
T |
9: 41,948,366 (GRCm39) |
D806E |
probably damaging |
Het |
| Syt1 |
T |
C |
10: 108,526,781 (GRCm39) |
K43E |
possibly damaging |
Het |
| Trmt1l |
T |
A |
1: 151,309,581 (GRCm39) |
L88Q |
probably damaging |
Het |
| Zfp334 |
G |
A |
2: 165,222,432 (GRCm39) |
T537I |
probably damaging |
Het |
| Zfp574 |
T |
A |
7: 24,779,482 (GRCm39) |
L168* |
probably null |
Het |
|
| Other mutations in Gpd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:Gpd1
|
APN |
15 |
99,618,532 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01338:Gpd1
|
APN |
15 |
99,616,056 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01947:Gpd1
|
APN |
15 |
99,618,112 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0366:Gpd1
|
UTSW |
15 |
99,617,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0551:Gpd1
|
UTSW |
15 |
99,618,510 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1789:Gpd1
|
UTSW |
15 |
99,621,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4130:Gpd1
|
UTSW |
15 |
99,617,158 (GRCm39) |
splice site |
probably null |
|
|
R5218:Gpd1
|
UTSW |
15 |
99,618,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5348:Gpd1
|
UTSW |
15 |
99,620,021 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5636:Gpd1
|
UTSW |
15 |
99,619,939 (GRCm39) |
missense |
probably benign |
|
|
R6228:Gpd1
|
UTSW |
15 |
99,621,146 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7196:Gpd1
|
UTSW |
15 |
99,619,936 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7479:Gpd1
|
UTSW |
15 |
99,617,984 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7508:Gpd1
|
UTSW |
15 |
99,619,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7509:Gpd1
|
UTSW |
15 |
99,619,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7714:Gpd1
|
UTSW |
15 |
99,619,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7716:Gpd1
|
UTSW |
15 |
99,619,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8044:Gpd1
|
UTSW |
15 |
99,621,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9747:Gpd1
|
UTSW |
15 |
99,618,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGCTATCGGTCCCTCCACAG -3'
(R):5'- CTGCCCAAATGCCAGAGTTG -3'
Sequencing Primer
(F):5'- GAGTTGTTACTTTGTACCATGCAC -3'
(R):5'- CAAATGCCAGAGTTGGTTCC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation