Incidental Mutation 'IGL02832:Gpd2'
| ID |
361471 |
| 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: 0.551)
|
| Stock # |
IGL02832
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
57237635-57370719 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57338979 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 265
(V265E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028167]
[ENSMUST00000112618]
[ENSMUST00000169687]
|
| AlphaFold |
Q64521 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028167
AA Change: V265E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028167
Gene: ENSMUSG00000026827
AA Change: V265E
| 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 damaging
Transcript: ENSMUST00000112618
AA Change: V265E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108237
Gene: ENSMUSG00000026827
AA Change: V265E
| 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 damaging
Transcript: ENSMUST00000169687
AA Change: V265E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130992
Gene: ENSMUSG00000026827
AA Change: V265E
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
G |
A |
6: 92,807,175 (GRCm38) |
T985M |
probably damaging |
Het |
| Alpk1 |
A |
G |
3: 127,679,943 (GRCm38) |
S804P |
possibly damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,528,327 (GRCm38) |
I925V |
unknown |
Het |
| Cep135 |
T |
A |
5: 76,640,949 (GRCm38) |
S1130T |
probably damaging |
Het |
| Cers3 |
A |
T |
7: 66,781,825 (GRCm38) |
M183L |
probably benign |
Het |
| Col5a1 |
A |
G |
2: 27,952,340 (GRCm38) |
E409G |
unknown |
Het |
| Cyp4a32 |
G |
T |
4: 115,614,621 (GRCm38) |
V410F |
probably damaging |
Het |
| Ddx1 |
G |
A |
12: 13,227,317 (GRCm38) |
Q528* |
probably null |
Het |
| Dio2 |
G |
A |
12: 90,729,404 (GRCm38) |
|
probably benign |
Het |
| Dnah9 |
G |
T |
11: 66,040,346 (GRCm38) |
A2008E |
probably damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,760,410 (GRCm38) |
V457A |
probably benign |
Het |
| Dytn |
T |
C |
1: 63,643,373 (GRCm38) |
T372A |
probably benign |
Het |
| Fam135a |
T |
C |
1: 24,028,633 (GRCm38) |
I152V |
probably benign |
Het |
| Fmnl2 |
C |
T |
2: 52,858,249 (GRCm38) |
A36V |
possibly damaging |
Het |
| Galnt7 |
G |
A |
8: 57,552,497 (GRCm38) |
T234I |
probably damaging |
Het |
| Gba1 |
A |
C |
3: 89,203,502 (GRCm38) |
I6L |
probably benign |
Het |
| Gja10 |
A |
G |
4: 32,602,147 (GRCm38) |
V79A |
probably damaging |
Het |
| Gpld1 |
T |
C |
13: 24,952,878 (GRCm38) |
Y60H |
probably damaging |
Het |
| Heatr9 |
A |
G |
11: 83,518,846 (GRCm38) |
|
probably benign |
Het |
| Hist3h2ba |
A |
G |
11: 58,949,043 (GRCm38) |
K35R |
probably benign |
Het |
| Krt75 |
T |
A |
15: 101,568,073 (GRCm38) |
D419V |
probably benign |
Het |
| Lrig3 |
A |
T |
10: 126,007,002 (GRCm38) |
I599F |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,511,580 (GRCm38) |
D1846G |
probably damaging |
Het |
| Mamdc2 |
C |
T |
19: 23,303,851 (GRCm38) |
A653T |
probably damaging |
Het |
| Myo7a |
A |
T |
7: 98,091,020 (GRCm38) |
|
probably null |
Het |
| Notch2 |
A |
G |
3: 98,137,373 (GRCm38) |
D1537G |
probably benign |
Het |
| Or10k2 |
G |
A |
8: 83,541,471 (GRCm38) |
C109Y |
probably damaging |
Het |
| Or51a25 |
G |
T |
7: 102,723,651 (GRCm38) |
H280N |
probably benign |
Het |
| Or52ae7 |
A |
T |
7: 103,470,698 (GRCm38) |
I220L |
probably benign |
Het |
| Papss1 |
A |
C |
3: 131,582,519 (GRCm38) |
D84A |
probably damaging |
Het |
| Pcdhb16 |
T |
A |
18: 37,478,474 (GRCm38) |
D162E |
probably damaging |
Het |
| Rab11fip1 |
C |
T |
8: 27,152,812 (GRCm38) |
R653Q |
possibly damaging |
Het |
| Rap1gap2 |
A |
T |
11: 74,412,455 (GRCm38) |
|
probably benign |
Het |
| Rasal2 |
T |
C |
1: 157,157,207 (GRCm38) |
D990G |
probably damaging |
Het |
| Rnf32 |
T |
C |
5: 29,205,703 (GRCm38) |
|
probably null |
Het |
| Rp1 |
T |
C |
1: 4,349,713 (GRCm38) |
D392G |
probably benign |
Het |
| Scn9a |
T |
C |
2: 66,568,029 (GRCm38) |
D79G |
probably damaging |
Het |
| Selenon |
A |
T |
4: 134,540,908 (GRCm38) |
V438D |
probably damaging |
Het |
| Slc47a1 |
G |
A |
11: 61,363,413 (GRCm38) |
H158Y |
probably benign |
Het |
| Slc5a12 |
A |
T |
2: 110,640,815 (GRCm38) |
E463D |
probably benign |
Het |
| Taf2 |
C |
T |
15: 55,016,563 (GRCm38) |
V1126M |
probably benign |
Het |
| Tas2r143 |
G |
T |
6: 42,400,325 (GRCm38) |
V30L |
possibly damaging |
Het |
| Tcea3 |
G |
A |
4: 136,268,113 (GRCm38) |
V256M |
probably damaging |
Het |
| Thy1 |
A |
G |
9: 44,046,814 (GRCm38) |
T80A |
probably benign |
Het |
| Tmem9 |
A |
G |
1: 136,019,731 (GRCm38) |
N47S |
probably damaging |
Het |
| Tmprss11g |
T |
C |
5: 86,497,269 (GRCm38) |
Q101R |
probably benign |
Het |
| Trim66 |
C |
T |
7: 109,460,497 (GRCm38) |
C792Y |
probably damaging |
Het |
| Tstd2 |
A |
T |
4: 46,124,949 (GRCm38) |
M226K |
probably damaging |
Het |
| Utrn |
G |
T |
10: 12,738,193 (GRCm38) |
T378K |
possibly damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,704,396 (GRCm38) |
I88V |
probably benign |
Het |
|
| Other mutations in Gpd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00946:Gpd2
|
APN |
2 |
57,268,084 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01012:Gpd2
|
APN |
2 |
57,364,530 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01096:Gpd2
|
APN |
2 |
57,338,867 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01642:Gpd2
|
APN |
2 |
57,268,071 (GRCm38) |
nonsense |
probably null |
|
|
IGL01816:Gpd2
|
APN |
2 |
57,364,066 (GRCm38) |
nonsense |
probably null |
|
|
IGL02257:Gpd2
|
APN |
2 |
57,364,524 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02824:Gpd2
|
APN |
2 |
57,364,327 (GRCm38) |
missense |
probably null |
0.89 |
|
IGL03040:Gpd2
|
APN |
2 |
57,355,793 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL03107:Gpd2
|
APN |
2 |
57,355,569 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03131:Gpd2
|
APN |
2 |
57,338,843 (GRCm38) |
splice site |
probably benign |
|
|
IGL03218:Gpd2
|
APN |
2 |
57,307,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03226:Gpd2
|
APN |
2 |
57,304,486 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03372:Gpd2
|
APN |
2 |
57,355,507 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0012:Gpd2
|
UTSW |
2 |
57,338,868 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0285:Gpd2
|
UTSW |
2 |
57,338,955 (GRCm38) |
missense |
probably benign |
0.16 |
|
R0379:Gpd2
|
UTSW |
2 |
57,345,263 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0401:Gpd2
|
UTSW |
2 |
57,340,093 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1347:Gpd2
|
UTSW |
2 |
57,357,671 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1347:Gpd2
|
UTSW |
2 |
57,357,671 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1468:Gpd2
|
UTSW |
2 |
57,355,774 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1468:Gpd2
|
UTSW |
2 |
57,355,774 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1490:Gpd2
|
UTSW |
2 |
57,355,475 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1672:Gpd2
|
UTSW |
2 |
57,357,700 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1709:Gpd2
|
UTSW |
2 |
57,357,655 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1735:Gpd2
|
UTSW |
2 |
57,355,551 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2056:Gpd2
|
UTSW |
2 |
57,339,013 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2959:Gpd2
|
UTSW |
2 |
57,338,975 (GRCm38) |
nonsense |
probably null |
|
|
R2960:Gpd2
|
UTSW |
2 |
57,338,975 (GRCm38) |
nonsense |
probably null |
|
|
R2961:Gpd2
|
UTSW |
2 |
57,338,975 (GRCm38) |
nonsense |
probably null |
|
|
R2962:Gpd2
|
UTSW |
2 |
57,338,975 (GRCm38) |
nonsense |
probably null |
|
|
R3008:Gpd2
|
UTSW |
2 |
57,338,975 (GRCm38) |
nonsense |
probably null |
|
|
R3009:Gpd2
|
UTSW |
2 |
57,338,975 (GRCm38) |
nonsense |
probably null |
|
|
R3881:Gpd2
|
UTSW |
2 |
57,338,975 (GRCm38) |
nonsense |
probably null |
|
|
R4073:Gpd2
|
UTSW |
2 |
57,290,013 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4153:Gpd2
|
UTSW |
2 |
57,355,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4564:Gpd2
|
UTSW |
2 |
57,307,083 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R4952:Gpd2
|
UTSW |
2 |
57,307,013 (GRCm38) |
nonsense |
probably null |
|
|
R5030:Gpd2
|
UTSW |
2 |
57,304,405 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5101:Gpd2
|
UTSW |
2 |
57,355,901 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5185:Gpd2
|
UTSW |
2 |
57,340,204 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6020:Gpd2
|
UTSW |
2 |
57,364,513 (GRCm38) |
missense |
probably benign |
0.18 |
|
R6325:Gpd2
|
UTSW |
2 |
57,304,396 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6536:Gpd2
|
UTSW |
2 |
57,345,355 (GRCm38) |
missense |
probably benign |
0.40 |
|
R6923:Gpd2
|
UTSW |
2 |
57,355,788 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7058:Gpd2
|
UTSW |
2 |
57,307,100 (GRCm38) |
splice site |
probably null |
|
|
R7380:Gpd2
|
UTSW |
2 |
57,340,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8052:Gpd2
|
UTSW |
2 |
57,306,950 (GRCm38) |
nonsense |
probably null |
|
|
R8098:Gpd2
|
UTSW |
2 |
57,290,008 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8467:Gpd2
|
UTSW |
2 |
57,364,584 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8851:Gpd2
|
UTSW |
2 |
57,307,050 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R9515:Gpd2
|
UTSW |
2 |
57,305,854 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
| Posted On |
2015-12-18 |
Incidental Mutation