Incidental Mutation 'R8052:Gpd2'
| ID |
619086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpd2
|
| Ensembl Gene |
ENSMUSG00000026827 |
| Gene Name |
glycerol phosphate dehydrogenase 2, mitochondrial |
| Synonyms |
Gdm1 |
| MMRRC Submission |
067489-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.593)
|
| Stock # |
R8052 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
57127690-57260731 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 57196962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 172
(Y172*)
|
| 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: Y172*
|
| SMART Domains |
Protein: ENSMUSP00000028167
Gene: ENSMUSG00000026827
AA Change: Y172*
| 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: Y172*
|
| SMART Domains |
Protein: ENSMUSP00000108237
Gene: ENSMUSG00000026827
AA Change: Y172*
| 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 |
probably null
Transcript: ENSMUST00000169687
AA Change: Y172*
|
| SMART Domains |
Protein: ENSMUSP00000130992
Gene: ENSMUSG00000026827
AA Change: Y172*
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
T |
C |
2: 22,843,555 (GRCm39) |
T297A |
probably benign |
Het |
| Acadl |
G |
T |
1: 66,892,337 (GRCm39) |
T162K |
probably benign |
Het |
| Aldoart2 |
A |
T |
12: 55,612,536 (GRCm39) |
I154F |
probably damaging |
Het |
| Alkbh8 |
G |
A |
9: 3,385,478 (GRCm39) |
R625H |
probably damaging |
Het |
| Ankrd31 |
T |
A |
13: 96,969,036 (GRCm39) |
V891E |
probably benign |
Het |
| Aopep |
G |
A |
13: 63,216,065 (GRCm39) |
V446I |
probably damaging |
Het |
| Atp8b5 |
C |
T |
4: 43,356,982 (GRCm39) |
R577* |
probably null |
Het |
| Capn3 |
G |
T |
2: 120,316,867 (GRCm39) |
E285D |
probably benign |
Het |
| Cd79b |
G |
T |
11: 106,204,526 (GRCm39) |
P87T |
probably damaging |
Het |
| Celsr2 |
T |
G |
3: 108,319,971 (GRCm39) |
D947A |
probably damaging |
Het |
| Csmd3 |
A |
C |
15: 47,569,783 (GRCm39) |
S1213R |
|
Het |
| Cyp2j5 |
T |
C |
4: 96,552,241 (GRCm39) |
M3V |
probably benign |
Het |
| Ddi1 |
C |
T |
9: 6,265,787 (GRCm39) |
R194K |
probably benign |
Het |
| Decr1 |
T |
C |
4: 15,933,019 (GRCm39) |
K49R |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,905,575 (GRCm39) |
E4130A |
probably benign |
Het |
| Dst |
A |
G |
1: 34,323,444 (GRCm39) |
D4648G |
probably damaging |
Het |
| Ecd |
A |
G |
14: 20,380,020 (GRCm39) |
|
probably null |
Het |
| Erbin |
A |
T |
13: 103,970,864 (GRCm39) |
Y917* |
probably null |
Het |
| Evpl |
T |
C |
11: 116,113,989 (GRCm39) |
K1234E |
probably benign |
Het |
| F11r |
T |
A |
1: 171,289,191 (GRCm39) |
Y218N |
possibly damaging |
Het |
| Fam43a |
C |
G |
16: 30,420,622 (GRCm39) |
T402S |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,457,064 (GRCm39) |
N2096S |
probably benign |
Het |
| Hscb |
A |
G |
5: 110,983,844 (GRCm39) |
V90A |
probably benign |
Het |
| Iqgap2 |
T |
C |
13: 95,794,387 (GRCm39) |
D1195G |
probably damaging |
Het |
| Map2k2 |
T |
C |
10: 80,950,900 (GRCm39) |
I115T |
probably damaging |
Het |
| Mast2 |
C |
T |
4: 116,170,172 (GRCm39) |
R707H |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,277,977 (GRCm39) |
N607S |
probably damaging |
Het |
| Mrpl9 |
T |
A |
3: 94,351,050 (GRCm39) |
Y77N |
probably damaging |
Het |
| Muc16 |
G |
A |
9: 18,570,347 (GRCm39) |
T724I |
unknown |
Het |
| Nat3 |
A |
T |
8: 68,000,478 (GRCm39) |
Y119F |
possibly damaging |
Het |
| Nol7 |
T |
C |
13: 43,554,990 (GRCm39) |
S208P |
probably damaging |
Het |
| Notch3 |
A |
T |
17: 32,365,545 (GRCm39) |
C1056S |
probably damaging |
Het |
| Nup50l |
TCC |
TCCGCC |
6: 96,142,078 (GRCm39) |
|
probably benign |
Het |
| Nup50l |
TCC |
TCCCCC |
6: 96,142,084 (GRCm39) |
|
probably benign |
Het |
| Or13j1 |
A |
T |
4: 43,705,884 (GRCm39) |
V228E |
probably damaging |
Het |
| Or3a4 |
T |
A |
11: 73,945,301 (GRCm39) |
I95F |
probably benign |
Het |
| Or5al5 |
A |
T |
2: 85,961,721 (GRCm39) |
Y95* |
probably null |
Het |
| Or8g17 |
G |
T |
9: 38,930,783 (GRCm39) |
T18K |
probably damaging |
Het |
| Osbpl3 |
A |
C |
6: 50,322,995 (GRCm39) |
L288R |
probably damaging |
Het |
| Oscp1 |
A |
C |
4: 125,982,116 (GRCm39) |
D352A |
possibly damaging |
Het |
| Pcdh9 |
G |
A |
14: 94,123,222 (GRCm39) |
R983C |
probably benign |
Het |
| Pcdhgb8 |
T |
C |
18: 37,896,555 (GRCm39) |
S542P |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,174,030 (GRCm39) |
T490A |
|
Het |
| Pkd1l1 |
A |
T |
11: 8,897,315 (GRCm39) |
D531E |
|
Het |
| Potefam3d |
A |
T |
8: 69,975,404 (GRCm39) |
Y21N |
possibly damaging |
Het |
| Prr3 |
G |
T |
17: 36,290,053 (GRCm39) |
D26E |
possibly damaging |
Het |
| Psmd8 |
T |
C |
7: 28,880,001 (GRCm39) |
K24E |
probably benign |
Het |
| Rasgrp4 |
G |
A |
7: 28,849,362 (GRCm39) |
C583Y |
probably damaging |
Het |
| Rest |
A |
G |
5: 77,416,171 (GRCm39) |
I128M |
probably benign |
Het |
| Rftn1 |
A |
T |
17: 50,393,607 (GRCm39) |
F144I |
probably damaging |
Het |
| Rusc2 |
T |
C |
4: 43,421,851 (GRCm39) |
F757S |
probably benign |
Het |
| Ryr1 |
A |
G |
7: 28,782,810 (GRCm39) |
S1942P |
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,745,177 (GRCm39) |
R706Q |
probably damaging |
Het |
| Sergef |
G |
T |
7: 46,264,062 (GRCm39) |
T275K |
probably damaging |
Het |
| Serpina10 |
T |
C |
12: 103,594,569 (GRCm39) |
T217A |
probably damaging |
Het |
| Shd |
G |
C |
17: 56,283,235 (GRCm39) |
S288T |
probably damaging |
Het |
| Siglec15 |
C |
A |
18: 78,091,803 (GRCm39) |
A133S |
possibly damaging |
Het |
| Stat4 |
C |
T |
1: 52,118,932 (GRCm39) |
P325L |
probably damaging |
Het |
| Syt8 |
G |
A |
7: 141,993,881 (GRCm39) |
G344D |
probably damaging |
Het |
| Tes |
A |
G |
6: 17,097,291 (GRCm39) |
E133G |
probably benign |
Het |
| Tmprss2 |
T |
C |
16: 97,369,616 (GRCm39) |
Y386C |
probably damaging |
Het |
| Tnfrsf11b |
A |
T |
15: 54,115,502 (GRCm39) |
L365Q |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 73,992,596 (GRCm39) |
D67V |
probably damaging |
Het |
| Tns2 |
T |
C |
15: 102,021,280 (GRCm39) |
S982P |
probably damaging |
Het |
| Tpcn2 |
A |
T |
7: 144,814,683 (GRCm39) |
F473I |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,542,257 (GRCm39) |
I232N |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,268,848 (GRCm39) |
S1977P |
probably benign |
Het |
| Ttll11 |
T |
A |
2: 35,869,527 (GRCm39) |
E37V |
unknown |
Het |
| Ttn |
A |
T |
2: 76,649,160 (GRCm39) |
V12716E |
possibly damaging |
Het |
| Vmn2r70 |
A |
C |
7: 85,212,923 (GRCm39) |
S495A |
probably benign |
Het |
| Zfp974 |
A |
G |
7: 27,610,697 (GRCm39) |
C343R |
probably damaging |
Het |
| Zfy1 |
A |
T |
Y: 726,004 (GRCm39) |
I587N |
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 |
|
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'- GCAACTATGTGCCAACCCTTC -3'
(R):5'- CAGTGTACTCTCGGTGGTCATC -3'
Sequencing Primer
(F):5'- ATGTGCCAACCCTTCCCACTC -3'
(R):5'- GGTCATCACCGGACAGAAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation