Incidental Mutation 'R2960:Gpd2'
ID |
255870 |
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: 0.593)
|
Stock # |
R2960 (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: 97.2%
- 20x: 94.8%
|
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 |
Arl5c |
A |
G |
11: 97,885,902 (GRCm39) |
L33P |
probably damaging |
Het |
Auh |
A |
T |
13: 52,993,610 (GRCm39) |
I268N |
probably damaging |
Het |
Cimap2 |
A |
G |
4: 106,470,615 (GRCm39) |
S186P |
probably damaging |
Het |
Defa25 |
A |
T |
8: 21,575,273 (GRCm39) |
H84L |
probably benign |
Het |
Endou |
T |
C |
15: 97,611,687 (GRCm39) |
Y317C |
probably damaging |
Het |
Fmn2 |
C |
T |
1: 174,437,385 (GRCm39) |
L1119F |
probably damaging |
Het |
Glyat |
T |
A |
19: 12,617,214 (GRCm39) |
L22H |
probably damaging |
Het |
Grb7 |
C |
T |
11: 98,343,087 (GRCm39) |
T268I |
probably damaging |
Het |
Ints15 |
A |
T |
5: 143,293,776 (GRCm39) |
F234I |
probably benign |
Het |
Itfg2 |
G |
A |
6: 128,390,515 (GRCm39) |
A190V |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Mdga2 |
G |
T |
12: 66,676,752 (GRCm39) |
Y513* |
probably null |
Het |
Med8 |
A |
G |
4: 118,271,944 (GRCm39) |
T222A |
probably damaging |
Het |
Nup43 |
T |
C |
10: 7,546,713 (GRCm39) |
V111A |
probably benign |
Het |
Or9s14 |
A |
G |
1: 92,536,050 (GRCm39) |
I164V |
probably benign |
Het |
Rfx3 |
G |
A |
19: 27,878,211 (GRCm39) |
Q29* |
probably null |
Het |
Rfx8 |
A |
G |
1: 39,722,112 (GRCm39) |
V291A |
probably damaging |
Het |
Scnn1a |
A |
G |
6: 125,299,256 (GRCm39) |
Y112C |
probably damaging |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Tmx3 |
T |
C |
18: 90,551,116 (GRCm39) |
V252A |
probably damaging |
Het |
Vmn1r216 |
A |
G |
13: 23,284,103 (GRCm39) |
D262G |
probably benign |
Het |
Vmn1r9 |
A |
G |
6: 57,048,657 (GRCm39) |
D244G |
possibly damaging |
Het |
Xkr6 |
T |
A |
14: 63,844,586 (GRCm39) |
M203K |
possibly damaging |
Het |
Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTTGTTGTGACACACTTCTGTACC -3'
(R):5'- TGTTAAGCCAGGCATTGTTGAC -3'
Sequencing Primer
(F):5'- TGACACACTTCTGTACCACCCG -3'
(R):5'- GACTGAAGTCTGCCTTTC -3'
|
Posted On |
2014-12-29 |