Incidental Mutation 'IGL03226:Gpd2'
ID414862
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpd2
Ensembl Gene ENSMUSG00000026827
Gene Nameglycerol phosphate dehydrogenase 2, mitochondrial
SynonymsGdm1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.662) question?
Stock #IGL03226
Quality Score
Status
Chromosome2
Chromosomal Location57237635-57370719 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 57304486 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028167] [ENSMUST00000112618] [ENSMUST00000169687]
Predicted Effect probably null
Transcript: ENSMUST00000028167
SMART Domains Protein: ENSMUSP00000028167
Gene: ENSMUSG00000026827

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000108237
Gene: ENSMUSG00000026827

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000148991
Predicted Effect probably null
Transcript: ENSMUST00000169687
SMART Domains Protein: ENSMUSP00000130992
Gene: ENSMUSG00000026827

DomainStartEndE-ValueType
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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A G 14: 70,157,609 V32A probably damaging Het
Als2 T C 1: 59,186,520 T944A probably benign Het
B020004J07Rik T A 4: 101,835,397 T469S probably benign Het
Bcat2 T A 7: 45,588,354 V348E probably damaging Het
Bnip2 A G 9: 69,996,174 D36G probably benign Het
C2cd5 T A 6: 143,072,566 D310V possibly damaging Het
Cltc G A 11: 86,720,287 T582M probably damaging Het
Dync2h1 T C 9: 7,125,918 H1896R probably benign Het
Efcab5 T C 11: 77,137,675 R413G possibly damaging Het
Fam131b C T 6: 42,318,954 M169I possibly damaging Het
Fam241b A G 10: 62,109,892 S52P probably benign Het
Fam35a T C 14: 34,268,371 T193A probably benign Het
Gucy1a1 T A 3: 82,119,024 Q41L probably benign Het
Ifna16 T C 4: 88,676,504 D118G probably benign Het
Kcnn1 T C 8: 70,846,491 probably benign Het
Lman1l A T 9: 57,610,007 Y365N probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Lyst A T 13: 13,709,559 H2984L probably benign Het
Myh7b C T 2: 155,620,483 Q369* probably null Het
Nalcn A C 14: 123,281,115 W1671G probably benign Het
Ndrg2 G A 14: 51,906,569 probably benign Het
Nfia C A 4: 98,063,049 P371Q probably damaging Het
Olfr975 A C 9: 39,950,423 probably null Het
Pcdhb22 A G 18: 37,518,956 D159G probably damaging Het
Plekhm3 A T 1: 64,921,800 D432E possibly damaging Het
Rab2a A G 4: 8,606,448 N195S probably benign Het
Sbf1 A G 15: 89,289,105 Y1764H possibly damaging Het
Scap A G 9: 110,384,267 T1127A possibly damaging Het
Slc45a2 A G 15: 11,022,192 D340G probably damaging Het
Tbc1d23 A T 16: 57,214,262 L58Q probably damaging Het
Tmcc1 T C 6: 116,133,976 T119A probably damaging Het
Tnfsf10 C A 3: 27,335,448 Y219* probably null Het
Traip G A 9: 107,970,993 R437Q probably damaging Het
Tyw3 T C 3: 154,587,550 T163A possibly damaging Het
Other mutations in Gpd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Gpd2 APN 2 57268084 critical splice donor site probably null
IGL01012:Gpd2 APN 2 57364530 missense probably benign 0.00
IGL01096:Gpd2 APN 2 57338867 missense probably damaging 0.98
IGL01642:Gpd2 APN 2 57268071 nonsense probably null
IGL01816:Gpd2 APN 2 57364066 nonsense probably null
IGL02257:Gpd2 APN 2 57364524 missense probably benign 0.01
IGL02824:Gpd2 APN 2 57364327 missense probably null 0.89
IGL02832:Gpd2 APN 2 57338979 missense probably damaging 1.00
IGL03040:Gpd2 APN 2 57355793 missense probably benign 0.06
IGL03107:Gpd2 APN 2 57355569 missense probably damaging 1.00
IGL03131:Gpd2 APN 2 57338843 splice site probably benign
IGL03218:Gpd2 APN 2 57307054 missense probably damaging 1.00
IGL03372:Gpd2 APN 2 57355507 missense probably damaging 1.00
kraft UTSW 2 57304396 missense probably damaging 0.96
R0012:Gpd2 UTSW 2 57338868 missense probably damaging 1.00
R0285:Gpd2 UTSW 2 57338955 missense probably benign 0.16
R0379:Gpd2 UTSW 2 57345263 missense probably damaging 1.00
R0401:Gpd2 UTSW 2 57340093 missense possibly damaging 0.94
R1347:Gpd2 UTSW 2 57357671 missense probably damaging 0.99
R1347:Gpd2 UTSW 2 57357671 missense probably damaging 0.99
R1468:Gpd2 UTSW 2 57355774 missense probably damaging 1.00
R1468:Gpd2 UTSW 2 57355774 missense probably damaging 1.00
R1490:Gpd2 UTSW 2 57355475 missense probably damaging 1.00
R1672:Gpd2 UTSW 2 57357700 missense probably damaging 0.97
R1709:Gpd2 UTSW 2 57357655 missense probably damaging 1.00
R1735:Gpd2 UTSW 2 57355551 missense probably damaging 1.00
R2056:Gpd2 UTSW 2 57339013 critical splice donor site probably null
R2959:Gpd2 UTSW 2 57338975 nonsense probably null
R2960:Gpd2 UTSW 2 57338975 nonsense probably null
R2961:Gpd2 UTSW 2 57338975 nonsense probably null
R2962:Gpd2 UTSW 2 57338975 nonsense probably null
R3008:Gpd2 UTSW 2 57338975 nonsense probably null
R3009:Gpd2 UTSW 2 57338975 nonsense probably null
R3881:Gpd2 UTSW 2 57338975 nonsense probably null
R4073:Gpd2 UTSW 2 57290013 missense probably damaging 1.00
R4153:Gpd2 UTSW 2 57355771 missense probably damaging 1.00
R4564:Gpd2 UTSW 2 57307083 missense possibly damaging 0.77
R4952:Gpd2 UTSW 2 57307013 nonsense probably null
R5030:Gpd2 UTSW 2 57304405 missense probably damaging 0.98
R5101:Gpd2 UTSW 2 57355901 missense probably damaging 1.00
R5185:Gpd2 UTSW 2 57340204 missense probably damaging 1.00
R6020:Gpd2 UTSW 2 57364513 missense probably benign 0.18
R6325:Gpd2 UTSW 2 57304396 missense probably damaging 0.96
R6536:Gpd2 UTSW 2 57345355 missense probably benign 0.40
R6923:Gpd2 UTSW 2 57355788 missense probably damaging 0.98
R7058:Gpd2 UTSW 2 57307100 splice site probably null
R7380:Gpd2 UTSW 2 57340159 missense probably damaging 1.00
R8052:Gpd2 UTSW 2 57306950 nonsense probably null
R8098:Gpd2 UTSW 2 57290008 missense possibly damaging 0.94
Posted On2016-08-02