Incidental Mutation 'R3881:Gpd2'
| ID |
308744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpd2
|
| Ensembl Gene |
ENSMUSG00000026827 |
| Gene Name |
glycerol phosphate dehydrogenase 2, mitochondrial |
| Synonyms |
Gdm1 |
| MMRRC Submission |
040795-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.647)
|
| Stock # |
R3881 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
57127690-57260731 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 57228987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 264
(R264*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028167]
[ENSMUST00000112618]
[ENSMUST00000169687]
|
| AlphaFold |
Q64521 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028167
AA Change: R264*
|
| SMART Domains |
Protein: ENSMUSP00000028167
Gene: ENSMUSG00000026827
AA Change: R264*
| 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: R264*
|
| SMART Domains |
Protein: ENSMUSP00000108237
Gene: ENSMUSG00000026827
AA Change: R264*
| 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: R264*
|
| SMART Domains |
Protein: ENSMUSP00000130992
Gene: ENSMUSG00000026827
AA Change: R264*
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010003K11Rik |
T |
G |
19: 4,548,417 (GRCm39) |
K44T |
possibly damaging |
Het |
| 4933402N03Rik |
T |
C |
7: 130,740,823 (GRCm39) |
E131G |
probably benign |
Het |
| Angptl4 |
G |
A |
17: 33,996,008 (GRCm39) |
P323S |
possibly damaging |
Het |
| Cep41 |
A |
G |
6: 30,658,397 (GRCm39) |
S201P |
probably damaging |
Het |
| Cep95 |
A |
G |
11: 106,697,118 (GRCm39) |
I257V |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,663,079 (GRCm39) |
N590S |
probably benign |
Het |
| Cyfip2 |
A |
G |
11: 46,099,162 (GRCm39) |
L716P |
probably damaging |
Het |
| Cyp2d34 |
T |
A |
15: 82,502,818 (GRCm39) |
Q136L |
probably benign |
Het |
| Def6 |
T |
C |
17: 28,439,189 (GRCm39) |
C267R |
probably damaging |
Het |
| Dgat2 |
G |
A |
7: 98,818,950 (GRCm39) |
Q69* |
probably null |
Het |
| Dlgap1 |
T |
A |
17: 71,093,810 (GRCm39) |
S710R |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,850,095 (GRCm39) |
I1539T |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,342,173 (GRCm39) |
I2932F |
possibly damaging |
Het |
| Enpp2 |
A |
G |
15: 54,783,088 (GRCm39) |
S76P |
probably damaging |
Het |
| Esr2 |
T |
C |
12: 76,214,394 (GRCm39) |
D19G |
probably damaging |
Het |
| Fam13b |
A |
T |
18: 34,595,112 (GRCm39) |
|
probably null |
Het |
| Fbxw14 |
A |
T |
9: 109,100,262 (GRCm39) |
V464D |
possibly damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,839,463 (GRCm39) |
C425* |
probably null |
Het |
| Gm21961 |
A |
G |
15: 64,886,716 (GRCm39) |
|
probably null |
Het |
| Hps5 |
A |
G |
7: 46,421,420 (GRCm39) |
V648A |
possibly damaging |
Het |
| Ints4 |
A |
G |
7: 97,165,464 (GRCm39) |
T517A |
possibly damaging |
Het |
| Itpr3 |
A |
G |
17: 27,332,814 (GRCm39) |
N1860S |
probably benign |
Het |
| Itsn2 |
G |
A |
12: 4,684,546 (GRCm39) |
|
probably benign |
Het |
| Jup |
A |
G |
11: 100,269,207 (GRCm39) |
V402A |
probably benign |
Het |
| Letm2 |
C |
A |
8: 26,083,884 (GRCm39) |
E116* |
probably null |
Het |
| Ly6c1 |
T |
C |
15: 74,917,436 (GRCm39) |
T71A |
probably benign |
Het |
| Mcm3ap |
G |
A |
10: 76,342,280 (GRCm39) |
S1591N |
probably benign |
Het |
| Mier2 |
C |
T |
10: 79,384,584 (GRCm39) |
|
probably null |
Het |
| Mocs2 |
T |
A |
13: 114,955,882 (GRCm39) |
L10* |
probably null |
Het |
| Myo6 |
A |
G |
9: 80,171,538 (GRCm39) |
D513G |
probably damaging |
Het |
| Myoz2 |
T |
C |
3: 122,807,369 (GRCm39) |
Y147C |
probably damaging |
Het |
| Nin |
C |
T |
12: 70,089,315 (GRCm39) |
V1367M |
probably benign |
Het |
| Nr2f6 |
C |
T |
8: 71,828,675 (GRCm39) |
A200T |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,947,775 (GRCm39) |
C4418Y |
probably damaging |
Het |
| Or10ak9 |
A |
G |
4: 118,726,550 (GRCm39) |
M191V |
probably benign |
Het |
| Or10q12 |
T |
C |
19: 13,746,144 (GRCm39) |
V146A |
probably benign |
Het |
| Or5g26 |
T |
A |
2: 85,494,769 (GRCm39) |
H3L |
probably benign |
Het |
| Paxip1 |
C |
T |
5: 27,953,837 (GRCm39) |
R953Q |
probably damaging |
Het |
| Pcdha1 |
A |
T |
18: 37,064,454 (GRCm39) |
I373F |
possibly damaging |
Het |
| Pcdha7 |
G |
A |
18: 37,108,432 (GRCm39) |
E486K |
probably benign |
Het |
| Recql5 |
G |
A |
11: 115,784,780 (GRCm39) |
P849L |
probably benign |
Het |
| Recql5 |
G |
T |
11: 115,784,781 (GRCm39) |
P849T |
probably benign |
Het |
| Rnf180 |
A |
T |
13: 105,386,915 (GRCm39) |
M131K |
possibly damaging |
Het |
| Rplp1 |
A |
G |
9: 61,821,704 (GRCm39) |
S3P |
probably benign |
Het |
| Rpp38 |
T |
A |
2: 3,330,283 (GRCm39) |
R206S |
probably benign |
Het |
| Sdha |
G |
T |
13: 74,487,311 (GRCm39) |
P159Q |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 143,959,121 (GRCm39) |
V199A |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Timm50 |
C |
A |
7: 28,010,432 (GRCm39) |
A41S |
probably benign |
Het |
| Tmbim1 |
A |
G |
1: 74,329,157 (GRCm39) |
|
probably benign |
Het |
| Tmprss11a |
C |
T |
5: 86,593,664 (GRCm39) |
V29M |
possibly damaging |
Het |
| Ttc28 |
A |
T |
5: 111,331,106 (GRCm39) |
H411L |
probably damaging |
Het |
| Ube4b |
A |
T |
4: 149,449,861 (GRCm39) |
|
probably null |
Het |
| Zdhhc22 |
T |
A |
12: 87,030,400 (GRCm39) |
M183L |
probably benign |
Het |
| Zfp106 |
A |
G |
2: 120,362,630 (GRCm39) |
S830P |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGACACACTTCTGTACCACCC -3'
(R):5'- TTTCATGTTAAGCCAGGCATTG -3'
Sequencing Primer
(F):5'- TGTACCACCCGTCCGTG -3'
(R):5'- CATGTTAAGCCAGGCATTGTTGAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation