Incidental Mutation 'R6536:Gpd2'
ID |
520385 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpd2
|
Ensembl Gene |
ENSMUSG00000026827 |
Gene Name |
glycerol phosphate dehydrogenase 2, mitochondrial |
Synonyms |
Gdm1 |
MMRRC Submission |
044662-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.593)
|
Stock # |
R6536 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
57127690-57260731 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 57235367 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 366
(I366F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028167]
[ENSMUST00000112618]
[ENSMUST00000169687]
|
AlphaFold |
Q64521 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028167
AA Change: I366F
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000028167 Gene: ENSMUSG00000026827 AA Change: I366F
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 benign
Transcript: ENSMUST00000112618
AA Change: I366F
PolyPhen 2
Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000108237 Gene: ENSMUSG00000026827 AA Change: I366F
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 benign
Transcript: ENSMUST00000169687
AA Change: I366F
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000130992 Gene: ENSMUSG00000026827 AA Change: I366F
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (36/36) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
G |
T |
11: 48,910,550 (GRCm39) |
H628N |
probably benign |
Het |
Abcb1a |
T |
A |
5: 8,769,030 (GRCm39) |
F751I |
probably benign |
Het |
Adamts13 |
G |
A |
2: 26,865,762 (GRCm39) |
V106M |
probably damaging |
Het |
Add1 |
C |
A |
5: 34,758,780 (GRCm39) |
N31K |
possibly damaging |
Het |
Adgrf5 |
G |
T |
17: 43,733,552 (GRCm39) |
|
probably benign |
Het |
Akap11 |
T |
G |
14: 78,748,754 (GRCm39) |
D1211A |
possibly damaging |
Het |
Atp5f1c |
G |
A |
2: 10,085,127 (GRCm39) |
|
probably benign |
Het |
Cd320 |
T |
C |
17: 34,066,477 (GRCm39) |
S72P |
probably benign |
Het |
Clca4b |
C |
A |
3: 144,622,490 (GRCm39) |
W525L |
possibly damaging |
Het |
Cripto |
A |
T |
9: 110,773,257 (GRCm39) |
|
probably null |
Het |
Csmd3 |
G |
A |
15: 47,701,863 (GRCm39) |
T1740I |
probably damaging |
Het |
Dnah7c |
T |
G |
1: 46,697,450 (GRCm39) |
S2122A |
probably benign |
Het |
Enpp2 |
T |
C |
15: 54,726,027 (GRCm39) |
N583S |
probably damaging |
Het |
Fcsk |
A |
G |
8: 111,610,511 (GRCm39) |
V964A |
possibly damaging |
Het |
Hsd17b2 |
G |
A |
8: 118,428,921 (GRCm39) |
V63M |
possibly damaging |
Het |
Hsdl2 |
A |
T |
4: 59,610,508 (GRCm39) |
|
probably null |
Het |
Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
Ifi44 |
A |
G |
3: 151,438,126 (GRCm39) |
V387A |
probably benign |
Het |
Kcnc4 |
T |
C |
3: 107,355,512 (GRCm39) |
D312G |
possibly damaging |
Het |
Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
Klra6 |
C |
T |
6: 130,000,682 (GRCm39) |
V41I |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,393,937 (GRCm39) |
|
probably null |
Het |
Mpdz |
T |
C |
4: 81,301,654 (GRCm39) |
E257G |
probably damaging |
Het |
Or10v1 |
T |
C |
19: 11,873,760 (GRCm39) |
V125A |
probably benign |
Het |
Or4f14 |
T |
C |
2: 111,743,119 (GRCm39) |
D52G |
possibly damaging |
Het |
Papln |
A |
G |
12: 83,828,661 (GRCm39) |
Y789C |
probably damaging |
Het |
Pcdh15 |
T |
C |
10: 74,467,221 (GRCm39) |
L1680P |
probably damaging |
Het |
Pcdhac1 |
A |
G |
18: 37,223,367 (GRCm39) |
N60S |
probably benign |
Het |
Polr3g |
T |
C |
13: 81,826,335 (GRCm39) |
N162S |
unknown |
Het |
Pou3f3 |
A |
G |
1: 42,737,374 (GRCm39) |
I357V |
probably damaging |
Het |
Sycp2 |
A |
G |
2: 177,993,441 (GRCm39) |
S1235P |
probably damaging |
Het |
Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
Trim67 |
T |
C |
8: 125,521,081 (GRCm39) |
S148P |
possibly damaging |
Het |
Usp49 |
A |
T |
17: 47,990,617 (GRCm39) |
I348F |
probably damaging |
Het |
Wac |
A |
T |
18: 7,905,189 (GRCm39) |
|
probably null |
Het |
Zfp775 |
A |
G |
6: 48,596,543 (GRCm39) |
K139R |
probably damaging |
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 |
|
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 |
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'- AGACAACCATAGATTATTAGGTGGG -3'
(R):5'- GGATCTAGGTTTGCCACAGC -3'
Sequencing Primer
(F):5'- GATTATTAGGTGGGGAAGATTACAAG -3'
(R):5'- TGCCACAGCAGAATGGGAC -3'
|
Posted On |
2018-06-06 |