Incidental Mutation 'IGL02824:Gpd2'
| ID |
361118 |
| 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 # |
IGL02824
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
57127690-57260731 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57254339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 671
(E671G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028167]
[ENSMUST00000112618]
[ENSMUST00000169687]
|
| AlphaFold |
Q64521 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028167
AA Change: E653G
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028167
Gene: ENSMUSG00000026827
AA Change: E653G
| 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 null
Transcript: ENSMUST00000112618
AA Change: E671G
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108237
Gene: ENSMUSG00000026827
AA Change: E671G
| 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 null
Transcript: ENSMUST00000169687
AA Change: E653G
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130992
Gene: ENSMUSG00000026827
AA Change: E653G
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
T |
C |
4: 122,596,112 (GRCm39) |
|
probably benign |
Het |
| Aadat |
A |
T |
8: 60,969,056 (GRCm39) |
K93N |
probably benign |
Het |
| Abcb5 |
A |
G |
12: 118,854,420 (GRCm39) |
F832L |
probably benign |
Het |
| Abl1 |
A |
T |
2: 31,690,831 (GRCm39) |
K783N |
probably damaging |
Het |
| Agxt2 |
A |
G |
15: 10,393,891 (GRCm39) |
E423G |
probably null |
Het |
| Alkbh8 |
T |
C |
9: 3,368,021 (GRCm39) |
|
probably null |
Het |
| Ankrd36 |
T |
C |
11: 5,524,246 (GRCm39) |
I171T |
possibly damaging |
Het |
| Ap1b1 |
G |
T |
11: 4,983,738 (GRCm39) |
A664S |
possibly damaging |
Het |
| Cd19 |
T |
C |
7: 126,009,826 (GRCm39) |
D446G |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,687,659 (GRCm39) |
|
probably null |
Het |
| Ehbp1l1 |
T |
C |
19: 5,769,326 (GRCm39) |
D659G |
probably benign |
Het |
| Eif3l |
A |
G |
15: 78,960,023 (GRCm39) |
|
probably null |
Het |
| F5 |
T |
C |
1: 164,021,916 (GRCm39) |
S1464P |
probably benign |
Het |
| Fut9 |
T |
C |
4: 25,620,037 (GRCm39) |
N259S |
probably damaging |
Het |
| Glb1l3 |
A |
T |
9: 26,761,405 (GRCm39) |
I209N |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,081,109 (GRCm39) |
D1381G |
probably damaging |
Het |
| Ifi206 |
A |
T |
1: 173,309,438 (GRCm39) |
I186K |
possibly damaging |
Het |
| Izumo1 |
A |
G |
7: 45,275,072 (GRCm39) |
D236G |
probably benign |
Het |
| Klhl32 |
T |
A |
4: 24,682,237 (GRCm39) |
R149* |
probably null |
Het |
| Lrrn1 |
T |
C |
6: 107,545,495 (GRCm39) |
F431S |
possibly damaging |
Het |
| Man2b2 |
C |
T |
5: 36,979,195 (GRCm39) |
V282I |
probably benign |
Het |
| Mboat2 |
A |
G |
12: 24,996,585 (GRCm39) |
K164R |
probably benign |
Het |
| Mgarp |
T |
C |
3: 51,296,508 (GRCm39) |
T165A |
probably damaging |
Het |
| Midn |
T |
G |
10: 79,989,486 (GRCm39) |
I43S |
possibly damaging |
Het |
| Ndn |
A |
G |
7: 61,998,582 (GRCm39) |
I143V |
possibly damaging |
Het |
| Or6c69 |
T |
C |
10: 129,747,565 (GRCm39) |
E194G |
probably damaging |
Het |
| Or8h9 |
T |
C |
2: 86,789,337 (GRCm39) |
D155G |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,602,345 (GRCm39) |
V278A |
probably benign |
Het |
| Prr30 |
A |
G |
14: 101,435,954 (GRCm39) |
F203L |
probably benign |
Het |
| Scd4 |
T |
C |
19: 44,329,698 (GRCm39) |
L223P |
probably damaging |
Het |
| Setdb1 |
T |
C |
3: 95,247,215 (GRCm39) |
|
probably benign |
Het |
| Smtn |
A |
G |
11: 3,482,658 (GRCm39) |
Y105H |
probably damaging |
Het |
| Spata19 |
A |
G |
9: 27,309,025 (GRCm39) |
I54M |
possibly damaging |
Het |
| Syk |
A |
T |
13: 52,777,319 (GRCm39) |
|
probably benign |
Het |
| Trim44 |
A |
G |
2: 102,230,540 (GRCm39) |
F164L |
possibly damaging |
Het |
| Zfp503 |
C |
T |
14: 22,035,162 (GRCm39) |
G585S |
possibly 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 |
|
IGL02832:Gpd2
|
APN |
2 |
57,228,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03040:Gpd2
|
APN |
2 |
57,245,805 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
2015-12-18 |
Incidental Mutation