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: 0.593)
|
| Stock # |
IGL02832
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
57127690-57260731 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57228991 bp (GRCm39)
|
| 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: 92,784,156 (GRCm39) |
T985M |
probably damaging |
Het |
| Alpk1 |
A |
G |
3: 127,473,592 (GRCm39) |
S804P |
possibly damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,664,835 (GRCm39) |
I925V |
unknown |
Het |
| Cep135 |
T |
A |
5: 76,788,796 (GRCm39) |
S1130T |
probably damaging |
Het |
| Cers3 |
A |
T |
7: 66,431,573 (GRCm39) |
M183L |
probably benign |
Het |
| Col5a1 |
A |
G |
2: 27,842,352 (GRCm39) |
E409G |
unknown |
Het |
| Cyp4a32 |
G |
T |
4: 115,471,818 (GRCm39) |
V410F |
probably damaging |
Het |
| Ddx1 |
G |
A |
12: 13,277,318 (GRCm39) |
Q528* |
probably null |
Het |
| Dio2 |
G |
A |
12: 90,696,178 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
G |
T |
11: 65,931,172 (GRCm39) |
A2008E |
probably damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,965,408 (GRCm39) |
V457A |
probably benign |
Het |
| Dytn |
T |
C |
1: 63,682,532 (GRCm39) |
T372A |
probably benign |
Het |
| Fam135a |
T |
C |
1: 24,067,714 (GRCm39) |
I152V |
probably benign |
Het |
| Fmnl2 |
C |
T |
2: 52,748,261 (GRCm39) |
A36V |
possibly damaging |
Het |
| Galnt7 |
G |
A |
8: 58,005,531 (GRCm39) |
T234I |
probably damaging |
Het |
| Gba1 |
A |
C |
3: 89,110,809 (GRCm39) |
I6L |
probably benign |
Het |
| Gja10 |
A |
G |
4: 32,602,147 (GRCm39) |
V79A |
probably damaging |
Het |
| Gpld1 |
T |
C |
13: 25,136,861 (GRCm39) |
Y60H |
probably damaging |
Het |
| H2bc27 |
A |
G |
11: 58,839,869 (GRCm39) |
K35R |
probably benign |
Het |
| Heatr9 |
A |
G |
11: 83,409,672 (GRCm39) |
|
probably benign |
Het |
| Krt75 |
T |
A |
15: 101,476,508 (GRCm39) |
D419V |
probably benign |
Het |
| Lrig3 |
A |
T |
10: 125,842,871 (GRCm39) |
I599F |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,341,925 (GRCm39) |
D1846G |
probably damaging |
Het |
| Mamdc2 |
C |
T |
19: 23,281,215 (GRCm39) |
A653T |
probably damaging |
Het |
| Myo7a |
A |
T |
7: 97,740,227 (GRCm39) |
|
probably null |
Het |
| Notch2 |
A |
G |
3: 98,044,689 (GRCm39) |
D1537G |
probably benign |
Het |
| Or10k2 |
G |
A |
8: 84,268,100 (GRCm39) |
C109Y |
probably damaging |
Het |
| Or51a25 |
G |
T |
7: 102,372,858 (GRCm39) |
H280N |
probably benign |
Het |
| Or52ae7 |
A |
T |
7: 103,119,905 (GRCm39) |
I220L |
probably benign |
Het |
| Papss1 |
A |
C |
3: 131,288,280 (GRCm39) |
D84A |
probably damaging |
Het |
| Pcdhb16 |
T |
A |
18: 37,611,527 (GRCm39) |
D162E |
probably damaging |
Het |
| Rab11fip1 |
C |
T |
8: 27,642,840 (GRCm39) |
R653Q |
possibly damaging |
Het |
| Rap1gap2 |
A |
T |
11: 74,303,281 (GRCm39) |
|
probably benign |
Het |
| Rasal2 |
T |
C |
1: 156,984,777 (GRCm39) |
D990G |
probably damaging |
Het |
| Rnf32 |
T |
C |
5: 29,410,701 (GRCm39) |
|
probably null |
Het |
| Rp1 |
T |
C |
1: 4,419,936 (GRCm39) |
D392G |
probably benign |
Het |
| Scn9a |
T |
C |
2: 66,398,373 (GRCm39) |
D79G |
probably damaging |
Het |
| Selenon |
A |
T |
4: 134,268,219 (GRCm39) |
V438D |
probably damaging |
Het |
| Slc47a1 |
G |
A |
11: 61,254,239 (GRCm39) |
H158Y |
probably benign |
Het |
| Slc5a12 |
A |
T |
2: 110,471,160 (GRCm39) |
E463D |
probably benign |
Het |
| Taf2 |
C |
T |
15: 54,879,959 (GRCm39) |
V1126M |
probably benign |
Het |
| Tas2r143 |
G |
T |
6: 42,377,259 (GRCm39) |
V30L |
possibly damaging |
Het |
| Tcea3 |
G |
A |
4: 135,995,424 (GRCm39) |
V256M |
probably damaging |
Het |
| Thy1 |
A |
G |
9: 43,958,111 (GRCm39) |
T80A |
probably benign |
Het |
| Tmem9 |
A |
G |
1: 135,947,469 (GRCm39) |
N47S |
probably damaging |
Het |
| Tmprss11g |
T |
C |
5: 86,645,128 (GRCm39) |
Q101R |
probably benign |
Het |
| Trim66 |
C |
T |
7: 109,059,704 (GRCm39) |
C792Y |
probably damaging |
Het |
| Tstd2 |
A |
T |
4: 46,124,949 (GRCm39) |
M226K |
probably damaging |
Het |
| Utrn |
G |
T |
10: 12,613,937 (GRCm39) |
T378K |
possibly damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,681,355 (GRCm39) |
I88V |
probably benign |
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 |
|
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