Incidental Mutation 'R8851:Gpd2'
| ID |
674983 |
| 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 # |
R8851 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
57127690-57260731 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57197062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 206
(M206L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028167]
[ENSMUST00000112618]
[ENSMUST00000169687]
|
| AlphaFold |
Q64521 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028167
AA Change: M206L
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000028167
Gene: ENSMUSG00000026827
AA Change: M206L
| 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 |
possibly damaging
Transcript: ENSMUST00000112618
AA Change: M206L
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000108237
Gene: ENSMUSG00000026827
AA Change: M206L
| 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 |
possibly damaging
Transcript: ENSMUST00000169687
AA Change: M206L
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000130992
Gene: ENSMUSG00000026827
AA Change: M206L
| 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: 99.7%
- 20x: 98.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr1 |
T |
A |
1: 173,159,683 (GRCm39) |
I279F |
probably benign |
Het |
| Adamts7 |
A |
G |
9: 90,075,163 (GRCm39) |
N965S |
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,613,119 (GRCm39) |
Y184C |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,691,535 (GRCm39) |
Y1142C |
probably damaging |
Het |
| Apoa4 |
A |
G |
9: 46,153,906 (GRCm39) |
K169R |
probably benign |
Het |
| Cd22 |
T |
A |
7: 30,577,084 (GRCm39) |
K74N |
probably benign |
Het |
| Defa39 |
T |
A |
8: 22,193,555 (GRCm39) |
I22F |
possibly damaging |
Het |
| Dgcr2 |
G |
A |
16: 17,690,507 (GRCm39) |
T41I |
possibly damaging |
Het |
| Dicer1 |
A |
G |
12: 104,690,300 (GRCm39) |
V245A |
possibly damaging |
Het |
| Dop1b |
T |
A |
16: 93,559,398 (GRCm39) |
S715T |
probably benign |
Het |
| Epb41l1 |
A |
T |
2: 156,364,431 (GRCm39) |
H980L |
probably benign |
Het |
| Erc2 |
A |
T |
14: 28,039,216 (GRCm39) |
E973V |
probably null |
Het |
| Fam124b |
T |
A |
1: 80,190,882 (GRCm39) |
Q167L |
probably damaging |
Het |
| Frmpd2 |
A |
G |
14: 33,217,643 (GRCm39) |
E46G |
probably damaging |
Het |
| Gabrb2 |
G |
A |
11: 42,312,186 (GRCm39) |
V4I |
probably benign |
Het |
| Gbf1 |
T |
A |
19: 46,256,922 (GRCm39) |
N841K |
probably damaging |
Het |
| Gnpat |
A |
G |
8: 125,601,004 (GRCm39) |
H161R |
probably damaging |
Het |
| Grid2ip |
T |
C |
5: 143,348,352 (GRCm39) |
F148L |
possibly damaging |
Het |
| Hemk1 |
A |
G |
9: 107,213,412 (GRCm39) |
V128A |
probably benign |
Het |
| Ism1 |
G |
T |
2: 139,591,465 (GRCm39) |
S273I |
probably damaging |
Het |
| Kcnab3 |
G |
T |
11: 69,218,990 (GRCm39) |
|
probably null |
Het |
| Kdm6b |
A |
G |
11: 69,291,993 (GRCm39) |
Y1430H |
unknown |
Het |
| Lama2 |
A |
G |
10: 27,242,119 (GRCm39) |
V279A |
possibly damaging |
Het |
| Lmf1 |
G |
A |
17: 25,804,680 (GRCm39) |
W119* |
probably null |
Het |
| Lrrc42 |
A |
G |
4: 107,096,375 (GRCm39) |
V276A |
probably benign |
Het |
| Magi2 |
T |
C |
5: 20,270,618 (GRCm39) |
F163L |
probably damaging |
Het |
| Map2k2 |
A |
G |
10: 80,955,097 (GRCm39) |
K196R |
probably damaging |
Het |
| Mfsd11 |
C |
A |
11: 116,752,479 (GRCm39) |
D209E |
probably benign |
Het |
| Muc1 |
C |
A |
3: 89,138,425 (GRCm39) |
F422L |
probably benign |
Het |
| Muc13 |
A |
G |
16: 33,631,273 (GRCm39) |
H391R |
probably benign |
Het |
| Mxi1 |
G |
A |
19: 53,360,126 (GRCm39) |
G283S |
probably damaging |
Het |
| Nfatc2ip |
T |
C |
7: 125,986,617 (GRCm39) |
Q346R |
probably damaging |
Het |
| Or8g2b |
A |
G |
9: 39,751,600 (GRCm39) |
Y290C |
probably damaging |
Het |
| Otol1 |
T |
A |
3: 69,935,299 (GRCm39) |
D430E |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,325,155 (GRCm39) |
E929G |
probably damaging |
Het |
| Pip4p2 |
T |
C |
4: 14,912,491 (GRCm39) |
M200T |
possibly damaging |
Het |
| Plekhf1 |
C |
T |
7: 37,921,466 (GRCm39) |
R34H |
probably damaging |
Het |
| Plekhm2 |
A |
T |
4: 141,358,639 (GRCm39) |
V622E |
probably benign |
Het |
| Pomt2 |
G |
A |
12: 87,184,838 (GRCm39) |
T196I |
probably damaging |
Het |
| Ppp1r12c |
C |
T |
7: 4,487,703 (GRCm39) |
G436D |
probably damaging |
Het |
| Prss50 |
A |
G |
9: 110,687,081 (GRCm39) |
|
probably benign |
Het |
| Slc29a1 |
A |
G |
17: 45,900,402 (GRCm39) |
I176T |
probably damaging |
Het |
| Slc5a9 |
A |
T |
4: 111,755,790 (GRCm39) |
V36E |
probably damaging |
Het |
| Slc7a1 |
A |
C |
5: 148,285,093 (GRCm39) |
S133R |
probably damaging |
Het |
| Sox17 |
A |
G |
1: 4,562,073 (GRCm39) |
Y376H |
probably benign |
Het |
| Spata4 |
T |
C |
8: 55,062,935 (GRCm39) |
I280T |
probably benign |
Het |
| Svop |
T |
A |
5: 114,192,557 (GRCm39) |
I187F |
probably damaging |
Het |
| Tas2r103 |
T |
A |
6: 133,013,896 (GRCm39) |
I57F |
|
Het |
| Tead3 |
A |
G |
17: 28,551,704 (GRCm39) |
V463A |
probably damaging |
Het |
| Tenm4 |
G |
C |
7: 96,501,710 (GRCm39) |
G1305R |
probably damaging |
Het |
| Top2a |
A |
T |
11: 98,900,677 (GRCm39) |
F594L |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,334,573 (GRCm39) |
T419A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,629,237 (GRCm39) |
E12621G |
probably damaging |
Het |
| Ttyh2 |
A |
G |
11: 114,593,090 (GRCm39) |
I254V |
probably benign |
Het |
| Vmn2r58 |
T |
C |
7: 41,487,219 (GRCm39) |
M559V |
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,643,437 (GRCm39) |
H358Q |
probably null |
Het |
| Zcwpw1 |
A |
C |
5: 137,820,626 (GRCm39) |
D597A |
probably damaging |
Het |
| Zfp318 |
A |
T |
17: 46,710,761 (GRCm39) |
Y828F |
probably damaging |
Het |
| Zfp608 |
T |
A |
18: 55,032,194 (GRCm39) |
N582I |
possibly 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 |
|
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 |
|
R9515:Gpd2
|
UTSW |
2 |
57,195,866 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTTTCTTGTAATTTAAGGTGCC -3'
(R):5'- ATGGTGACTCTCTACCTACGTGAG -3'
Sequencing Primer
(F):5'- GGTGCCAATCTATAGTGCTATACCG -3'
(R):5'- ACGTGAGTGCATTTGTTTGTTCC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation