Incidental Mutation 'IGL03040:Gpd2'
ID |
408863 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gpd2
|
Ensembl Gene |
ENSMUSG00000026827 |
Gene Name |
glycerol phosphate dehydrogenase 2, mitochondrial |
Synonyms |
Gdm1 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.593)
|
Stock # |
IGL03040
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
57127690-57260731 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 57245805 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 445
(E445V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028167]
[ENSMUST00000112618]
[ENSMUST00000169687]
|
AlphaFold |
Q64521 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028167
AA Change: E445V
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000028167 Gene: ENSMUSG00000026827 AA Change: E445V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
Pfam:FAD_binding_2
|
71 |
145 |
5.2e-7 |
PFAM |
Pfam:FAD_oxidored
|
71 |
147 |
2.3e-9 |
PFAM |
Pfam:DAO
|
71 |
441 |
8.9e-52 |
PFAM |
EFh
|
627 |
655 |
1.38e1 |
SMART |
EFh
|
663 |
691 |
1.27e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112618
AA Change: E445V
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000108237 Gene: ENSMUSG00000026827 AA Change: E445V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
Pfam:FAD_binding_2
|
71 |
143 |
4.6e-7 |
PFAM |
Pfam:DAO
|
71 |
441 |
2.9e-50 |
PFAM |
Pfam:DAO_C
|
462 |
588 |
2.1e-42 |
PFAM |
EFh
|
645 |
673 |
1.38e1 |
SMART |
EFh
|
681 |
709 |
1.27e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141536
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169687
AA Change: E445V
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000130992 Gene: ENSMUSG00000026827 AA Change: E445V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
Pfam:FAD_binding_2
|
71 |
145 |
5.2e-7 |
PFAM |
Pfam:FAD_oxidored
|
71 |
147 |
2.3e-9 |
PFAM |
Pfam:DAO
|
71 |
441 |
8.9e-52 |
PFAM |
EFh
|
627 |
655 |
1.38e1 |
SMART |
EFh
|
663 |
691 |
1.27e-3 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to the inner mitochondrial membrane and catalyzes the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, using FAD as a cofactor. Along with GDP1, the encoded protein constitutes the glycerol phosphate shuttle, which reoxidizes NADH formed during glycolysis. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010] PHENOTYPE: Homozygotes for targeted null mutations exhibit diminished hepatic ATP levels, decreased adiposity and fasting blood glucose, and, on an inbred background, reductions in preweaning viability and fertility. [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 |
Abcc9 |
C |
A |
6: 142,598,323 (GRCm39) |
G672* |
probably null |
Het |
Adamts19 |
T |
A |
18: 59,036,080 (GRCm39) |
S422T |
probably benign |
Het |
Anapc7 |
T |
A |
5: 122,571,450 (GRCm39) |
L175* |
probably null |
Het |
Atp13a2 |
T |
C |
4: 140,733,484 (GRCm39) |
L986P |
probably damaging |
Het |
Atp6v1d |
C |
A |
12: 78,904,122 (GRCm39) |
|
probably benign |
Het |
Bnip5 |
A |
G |
17: 29,134,176 (GRCm39) |
M11T |
probably benign |
Het |
Cldn5 |
A |
G |
16: 18,596,380 (GRCm39) |
Y212C |
probably damaging |
Het |
Dgki |
C |
A |
6: 37,126,599 (GRCm39) |
|
probably benign |
Het |
Evi5 |
A |
G |
5: 107,969,672 (GRCm39) |
S80P |
probably damaging |
Het |
Extl1 |
A |
T |
4: 134,087,940 (GRCm39) |
|
probably benign |
Het |
Fam237b |
C |
A |
5: 5,625,566 (GRCm39) |
Y87* |
probably null |
Het |
Fbxo38 |
T |
C |
18: 62,660,323 (GRCm39) |
H296R |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,857,960 (GRCm39) |
I2085V |
probably benign |
Het |
Grm8 |
C |
T |
6: 28,126,122 (GRCm39) |
M1I |
probably null |
Het |
Hnf4g |
T |
A |
3: 3,699,271 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
G |
A |
4: 137,289,136 (GRCm39) |
|
probably null |
Het |
Kmt2c |
T |
C |
5: 25,515,350 (GRCm39) |
Q2831R |
probably benign |
Het |
Nat10 |
C |
A |
2: 103,587,610 (GRCm39) |
|
probably benign |
Het |
Pbx1 |
C |
A |
1: 168,255,515 (GRCm39) |
|
probably benign |
Het |
Prkg2 |
C |
T |
5: 99,120,966 (GRCm39) |
|
probably null |
Het |
Scn10a |
T |
A |
9: 119,452,051 (GRCm39) |
I1291F |
probably damaging |
Het |
Sh3tc2 |
G |
A |
18: 62,122,481 (GRCm39) |
G414D |
probably benign |
Het |
Syn2 |
C |
T |
6: 115,240,926 (GRCm39) |
T432I |
possibly damaging |
Het |
Tnpo1 |
T |
C |
13: 98,996,463 (GRCm39) |
E446G |
probably damaging |
Het |
Topbp1 |
C |
T |
9: 103,205,866 (GRCm39) |
L835F |
possibly damaging |
Het |
Ubald1 |
G |
T |
16: 4,693,626 (GRCm39) |
S96R |
possibly damaging |
Het |
Utp6 |
C |
A |
11: 79,826,939 (GRCm39) |
|
probably benign |
Het |
Vmn1r19 |
C |
A |
6: 57,382,347 (GRCm39) |
P300Q |
unknown |
Het |
Vmn1r220 |
T |
C |
13: 23,367,952 (GRCm39) |
D248G |
possibly damaging |
Het |
Zglp1 |
T |
A |
9: 20,974,622 (GRCm39) |
S189C |
probably damaging |
Het |
|
Other mutations in Gpd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00946:Gpd2
|
APN |
2 |
57,158,096 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01012:Gpd2
|
APN |
2 |
57,254,542 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01096:Gpd2
|
APN |
2 |
57,228,879 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01642:Gpd2
|
APN |
2 |
57,158,083 (GRCm39) |
nonsense |
probably null |
|
IGL01816:Gpd2
|
APN |
2 |
57,254,078 (GRCm39) |
nonsense |
probably null |
|
IGL02257:Gpd2
|
APN |
2 |
57,254,536 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02824:Gpd2
|
APN |
2 |
57,254,339 (GRCm39) |
missense |
probably null |
0.89 |
IGL02832:Gpd2
|
APN |
2 |
57,228,991 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03107:Gpd2
|
APN |
2 |
57,245,581 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03131:Gpd2
|
APN |
2 |
57,228,855 (GRCm39) |
splice site |
probably benign |
|
IGL03218:Gpd2
|
APN |
2 |
57,197,066 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03226:Gpd2
|
APN |
2 |
57,194,498 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03372:Gpd2
|
APN |
2 |
57,245,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R0012:Gpd2
|
UTSW |
2 |
57,228,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R0285:Gpd2
|
UTSW |
2 |
57,228,967 (GRCm39) |
missense |
probably benign |
0.16 |
R0379:Gpd2
|
UTSW |
2 |
57,235,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R0401:Gpd2
|
UTSW |
2 |
57,230,105 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1347:Gpd2
|
UTSW |
2 |
57,247,683 (GRCm39) |
missense |
probably damaging |
0.99 |
R1347:Gpd2
|
UTSW |
2 |
57,247,683 (GRCm39) |
missense |
probably damaging |
0.99 |
R1468:Gpd2
|
UTSW |
2 |
57,245,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Gpd2
|
UTSW |
2 |
57,245,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R1490:Gpd2
|
UTSW |
2 |
57,245,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R1672:Gpd2
|
UTSW |
2 |
57,247,712 (GRCm39) |
missense |
probably damaging |
0.97 |
R1709:Gpd2
|
UTSW |
2 |
57,247,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R1735:Gpd2
|
UTSW |
2 |
57,245,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R2056:Gpd2
|
UTSW |
2 |
57,229,025 (GRCm39) |
critical splice donor site |
probably null |
|
R2959:Gpd2
|
UTSW |
2 |
57,228,987 (GRCm39) |
nonsense |
probably null |
|
R2960:Gpd2
|
UTSW |
2 |
57,228,987 (GRCm39) |
nonsense |
probably null |
|
R2961:Gpd2
|
UTSW |
2 |
57,228,987 (GRCm39) |
nonsense |
probably null |
|
R2962:Gpd2
|
UTSW |
2 |
57,228,987 (GRCm39) |
nonsense |
probably null |
|
R3008:Gpd2
|
UTSW |
2 |
57,228,987 (GRCm39) |
nonsense |
probably null |
|
R3009:Gpd2
|
UTSW |
2 |
57,228,987 (GRCm39) |
nonsense |
probably null |
|
R3881:Gpd2
|
UTSW |
2 |
57,228,987 (GRCm39) |
nonsense |
probably null |
|
R4073:Gpd2
|
UTSW |
2 |
57,180,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R4153:Gpd2
|
UTSW |
2 |
57,245,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R4564:Gpd2
|
UTSW |
2 |
57,197,095 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4952:Gpd2
|
UTSW |
2 |
57,197,025 (GRCm39) |
nonsense |
probably null |
|
R5030:Gpd2
|
UTSW |
2 |
57,194,417 (GRCm39) |
missense |
probably damaging |
0.98 |
R5101:Gpd2
|
UTSW |
2 |
57,245,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R5185:Gpd2
|
UTSW |
2 |
57,230,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R6020:Gpd2
|
UTSW |
2 |
57,254,525 (GRCm39) |
missense |
probably benign |
0.18 |
R6325:Gpd2
|
UTSW |
2 |
57,194,408 (GRCm39) |
missense |
probably damaging |
0.96 |
R6536:Gpd2
|
UTSW |
2 |
57,235,367 (GRCm39) |
missense |
probably benign |
0.40 |
R6923:Gpd2
|
UTSW |
2 |
57,245,800 (GRCm39) |
missense |
probably damaging |
0.98 |
R7058:Gpd2
|
UTSW |
2 |
57,197,112 (GRCm39) |
splice site |
probably null |
|
R7380:Gpd2
|
UTSW |
2 |
57,230,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R8052:Gpd2
|
UTSW |
2 |
57,196,962 (GRCm39) |
nonsense |
probably null |
|
R8098:Gpd2
|
UTSW |
2 |
57,180,020 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8467:Gpd2
|
UTSW |
2 |
57,254,596 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8851:Gpd2
|
UTSW |
2 |
57,197,062 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9515:Gpd2
|
UTSW |
2 |
57,195,866 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Posted On |
2016-08-02 |