Incidental Mutation 'R3008:Gpd2'
| ID |
257430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpd2
|
| Ensembl Gene |
ENSMUSG00000026827 |
| Gene Name |
glycerol phosphate dehydrogenase 2, mitochondrial |
| Synonyms |
Gdm1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.647)
|
| Stock # |
R3008 (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: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
C |
3: 59,652,930 (GRCm39) |
L123P |
possibly damaging |
Het |
| Acap3 |
T |
C |
4: 155,990,139 (GRCm39) |
I773T |
probably benign |
Het |
| Atm |
A |
C |
9: 53,392,050 (GRCm39) |
F1780V |
probably benign |
Het |
| Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
| Cldn19 |
T |
G |
4: 119,112,987 (GRCm39) |
L73R |
probably damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,666,204 (GRCm39) |
Y1078C |
probably damaging |
Het |
| Foxo6 |
A |
T |
4: 120,125,961 (GRCm39) |
M278K |
probably benign |
Het |
| Gm10277 |
T |
A |
11: 77,676,362 (GRCm39) |
|
probably benign |
Het |
| Gm4871 |
A |
T |
5: 144,966,627 (GRCm39) |
D285E |
probably damaging |
Het |
| Ighv1-85 |
A |
T |
12: 115,963,704 (GRCm39) |
Y99N |
probably damaging |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,071 (GRCm39) |
L107Q |
probably damaging |
Het |
| Kif17 |
A |
G |
4: 138,005,476 (GRCm39) |
D347G |
probably damaging |
Het |
| Med22 |
T |
C |
2: 26,798,396 (GRCm39) |
|
probably benign |
Het |
| Mme |
T |
A |
3: 63,266,378 (GRCm39) |
N551K |
probably damaging |
Het |
| Mpp7 |
G |
A |
18: 7,461,678 (GRCm39) |
P65L |
possibly damaging |
Het |
| Muc2 |
A |
T |
7: 141,281,347 (GRCm39) |
H475L |
possibly damaging |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or8s10 |
G |
A |
15: 98,335,857 (GRCm39) |
C169Y |
probably damaging |
Het |
| Pdp2 |
T |
A |
8: 105,320,898 (GRCm39) |
I249N |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
G |
T |
1: 131,693,652 (GRCm39) |
G714V |
probably damaging |
Het |
| Tarbp1 |
G |
A |
8: 127,174,160 (GRCm39) |
T882I |
possibly damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Ubr5 |
A |
G |
15: 38,031,089 (GRCm39) |
S398P |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGACACACTTCTGTACCACC -3'
(R):5'- TTCATGTTAAGCCAGGCATTG -3'
Sequencing Primer
(F):5'- TGTACCACCCGTCCGTG -3'
(R):5'- CATGTTAAGCCAGGCATTGTTGAC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation