Incidental Mutation 'R5348:Gpd1'
ID |
422751 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpd1
|
Ensembl Gene |
ENSMUSG00000023019 |
Gene Name |
glycerol-3-phosphate dehydrogenase 1 (soluble) |
Synonyms |
Gdc1, Gdc-1 |
MMRRC Submission |
042927-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5348 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
99615468-99622895 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 99620021 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 273
(V273A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023760
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023760]
[ENSMUST00000023761]
[ENSMUST00000162194]
|
AlphaFold |
P13707 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023760
AA Change: V273A
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000023760 Gene: ENSMUSG00000023019 AA Change: V273A
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 |
probably benign
Transcript: ENSMUST00000023761
|
SMART Domains |
Protein: ENSMUSP00000023761 Gene: ENSMUSG00000023020
Domain | Start | End | E-Value | Type |
Pfam:COX14
|
1 |
55 |
1.4e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161529
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161768
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162194
AA Change: V250A
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000125164 Gene: ENSMUSG00000023019 AA Change: V250A
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
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 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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
A |
T |
17: 84,978,634 (GRCm39) |
C275S |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 37,102,295 (GRCm39) |
E1331G |
probably damaging |
Het |
Cdk12 |
T |
A |
11: 98,095,118 (GRCm39) |
S309T |
probably benign |
Het |
Cep295nl |
T |
C |
11: 118,224,425 (GRCm39) |
R140G |
probably damaging |
Het |
Chd8 |
A |
G |
14: 52,470,155 (GRCm39) |
V485A |
probably damaging |
Het |
Chn2 |
A |
G |
6: 54,277,203 (GRCm39) |
I279V |
probably damaging |
Het |
Cux2 |
A |
G |
5: 122,004,041 (GRCm39) |
S1032P |
probably damaging |
Het |
Ddx55 |
T |
A |
5: 124,692,628 (GRCm39) |
M44K |
probably damaging |
Het |
Dpyd |
T |
A |
3: 118,575,592 (GRCm39) |
H143Q |
probably benign |
Het |
Fbxo10 |
A |
G |
4: 45,058,934 (GRCm39) |
W268R |
probably damaging |
Het |
Gmfg |
A |
G |
7: 28,145,819 (GRCm39) |
D86G |
probably benign |
Het |
Grhpr |
T |
C |
4: 44,985,393 (GRCm39) |
I158T |
probably damaging |
Het |
Itpr2 |
A |
G |
6: 146,378,191 (GRCm39) |
F53L |
possibly damaging |
Het |
Kctd21 |
A |
G |
7: 96,997,177 (GRCm39) |
I217V |
probably benign |
Het |
Lrfn2 |
A |
G |
17: 49,403,718 (GRCm39) |
T614A |
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,880,963 (GRCm39) |
D491V |
probably benign |
Het |
Myo7b |
T |
C |
18: 32,116,972 (GRCm39) |
E916G |
probably damaging |
Het |
Nf1 |
C |
T |
11: 79,455,725 (GRCm39) |
T550I |
probably damaging |
Het |
Nsd1 |
A |
G |
13: 55,460,147 (GRCm39) |
T2125A |
probably benign |
Het |
Olfml2b |
A |
G |
1: 170,489,995 (GRCm39) |
E205G |
probably benign |
Het |
Or8k37 |
A |
T |
2: 86,469,150 (GRCm39) |
L301I |
probably benign |
Het |
Papolb |
T |
C |
5: 142,514,972 (GRCm39) |
T224A |
possibly damaging |
Het |
Pcnx2 |
T |
C |
8: 126,545,495 (GRCm39) |
E1172G |
probably damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,675,317 (GRCm39) |
L362S |
possibly damaging |
Het |
Ppp1r9b |
T |
A |
11: 94,887,438 (GRCm39) |
Y59* |
probably null |
Het |
Pramel12 |
T |
C |
4: 143,143,351 (GRCm39) |
L39P |
probably damaging |
Het |
Rapgef5 |
T |
A |
12: 117,652,346 (GRCm39) |
S76R |
probably benign |
Het |
Rnh1 |
A |
T |
7: 140,743,321 (GRCm39) |
V218D |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Slc4a7 |
G |
T |
14: 14,786,310 (GRCm38) |
V999L |
probably benign |
Het |
Slco4c1 |
A |
T |
1: 96,770,254 (GRCm39) |
I270N |
probably damaging |
Het |
Tdp1 |
A |
G |
12: 99,881,765 (GRCm39) |
Y498C |
probably damaging |
Het |
Tfip11 |
A |
G |
5: 112,483,534 (GRCm39) |
S650G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,608,638 (GRCm39) |
T17793A |
possibly damaging |
Het |
Ulk2 |
T |
C |
11: 61,674,439 (GRCm39) |
T856A |
probably benign |
Het |
Vps13d |
C |
T |
4: 144,792,459 (GRCm39) |
G3726E |
probably damaging |
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 |
R2429:Gpd1
|
UTSW |
15 |
99,618,488 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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'- TCCTCAAAGAATATAGTGGCCG -3'
(R):5'- TAATGGCCCCTGTTCCAAAC -3'
Sequencing Primer
(F):5'- CTCAAAGAATATAGTGGCCGTTGGG -3'
(R):5'- ATTCCCGTGGTTGAACGCAG -3'
|
Posted On |
2016-08-04 |