Incidental Mutation 'IGL01338:Gpd1'
ID 74715
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpd1
Ensembl Gene ENSMUSG00000023019
Gene Name glycerol-3-phosphate dehydrogenase 1 (soluble)
Synonyms Gdc1, Gdc-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01338
Quality Score
Status
Chromosome 15
Chromosomal Location 99615468-99622895 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99616056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 22 (V22E)
Ref Sequence ENSEMBL: ENSMUSP00000125164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023759] [ENSMUST00000023760] [ENSMUST00000162194]
AlphaFold P13707
Predicted Effect probably benign
Transcript: ENSMUST00000023759
SMART Domains Protein: ENSMUSP00000023759
Gene: ENSMUSG00000023018

DomainStartEndE-ValueType
low complexity region 9 38 N/A INTRINSIC
low complexity region 103 117 N/A INTRINSIC
Blast:KISc 124 271 2e-43 BLAST
SWIB 291 370 1.97e-35 SMART
Blast:MYSc 452 498 2e-17 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000023760
AA Change: V22E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023760
Gene: ENSMUSG00000023019
AA Change: V22E

DomainStartEndE-ValueType
Pfam:NAD_Gly3P_dh_N 5 174 6.2e-57 PFAM
Pfam:NAD_Gly3P_dh_C 193 340 8.5e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161768
Predicted Effect probably damaging
Transcript: ENSMUST00000162194
AA Change: V22E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125164
Gene: ENSMUSG00000023019
AA Change: V22E

DomainStartEndE-ValueType
Pfam:NAD_Gly3P_dh_N 5 77 3.6e-21 PFAM
Pfam:NAD_Gly3P_dh_N 71 151 1.9e-22 PFAM
Pfam:NAD_Gly3P_dh_C 169 319 4.2e-60 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible conversion of dihydroxyacetone phosphate (DHAP) and reduced nicotine adenine dinucleotide (NADH) to glycerol-3-phosphate (G3P) and NAD+. The encoded cytosolic protein and mitochondrial glycerol-3-phosphate dehydrogenase also form a glycerol phosphate shuttle that facilitates the transfer of reducing equivalents from the cytosol to mitochondria. Mutations in this gene are a cause of transient infantile hypertriglyceridemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a spontaneous mutation are viable and phenotypically normal but show loss of glycerol-3-phosphate dehydrogenase 1 activity in adult tissues. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 A G 1: 63,591,014 (GRCm39) T494A possibly damaging Het
Adamts16 C T 13: 70,984,234 (GRCm39) C143Y probably damaging Het
Cacna1i A G 15: 80,232,581 (GRCm39) I195V probably damaging Het
Casp7 T C 19: 56,392,896 (GRCm39) S17P probably benign Het
Cfap298 T C 16: 90,722,936 (GRCm39) N266S possibly damaging Het
Cox6a1 C A 5: 115,483,898 (GRCm39) probably benign Het
Cpvl T A 6: 53,951,640 (GRCm39) S48C possibly damaging Het
Cyp2b19 G T 7: 26,458,842 (GRCm39) M138I probably benign Het
Dennd5a T C 7: 109,518,611 (GRCm39) Y510C possibly damaging Het
Derl2 A G 11: 70,901,181 (GRCm39) F229S possibly damaging Het
Dlec1 A G 9: 118,949,979 (GRCm39) E452G probably damaging Het
Dsc2 T C 18: 20,180,214 (GRCm39) K180E probably benign Het
Dus1l G A 11: 120,683,918 (GRCm39) R177C possibly damaging Het
Egfr A G 11: 16,813,020 (GRCm39) I167V probably damaging Het
Fam219b A T 9: 57,445,305 (GRCm39) probably null Het
Fn1 T C 1: 71,665,369 (GRCm39) E916G probably damaging Het
Gm2058 C T 7: 39,238,580 (GRCm39) noncoding transcript Het
Hsf2 T C 10: 57,377,475 (GRCm39) F124L probably damaging Het
I0C0044D17Rik A G 4: 98,708,336 (GRCm39) probably benign Het
Igfbp3 A T 11: 7,158,478 (GRCm39) F262I possibly damaging Het
Klhl18 A G 9: 110,284,501 (GRCm39) Y62H probably damaging Het
Lama2 C T 10: 27,064,268 (GRCm39) E1238K probably benign Het
Man1b1 A G 2: 25,228,239 (GRCm39) K170E probably benign Het
Mcrs1 A T 15: 99,147,382 (GRCm39) I39N probably damaging Het
Mug2 T C 6: 122,026,587 (GRCm39) probably benign Het
Neu3 C A 7: 99,462,629 (GRCm39) G365W probably damaging Het
Nipal3 A C 4: 135,199,194 (GRCm39) probably null Het
Nrxn3 A G 12: 89,221,804 (GRCm39) I528V possibly damaging Het
Or10al6 A T 17: 38,082,730 (GRCm39) H71L possibly damaging Het
Osbpl8 A G 10: 111,103,608 (GRCm39) K204R probably damaging Het
Pax8 A G 2: 24,325,931 (GRCm39) S318P possibly damaging Het
Pcdh18 T A 3: 49,710,590 (GRCm39) N242Y probably damaging Het
Pkd1l2 T A 8: 117,786,259 (GRCm39) K649* probably null Het
Ppm1n A T 7: 19,013,179 (GRCm39) D257E probably benign Het
Pxdn A G 12: 30,052,796 (GRCm39) E811G probably damaging Het
Relb T C 7: 19,350,298 (GRCm39) I218V probably benign Het
Rreb1 T C 13: 38,115,010 (GRCm39) C790R probably damaging Het
Rtkn2 G T 10: 67,861,349 (GRCm39) C258F possibly damaging Het
Scn11a G A 9: 119,613,227 (GRCm39) probably benign Het
Snx8 G A 5: 140,343,851 (GRCm39) R96C probably damaging Het
Syne2 A T 12: 76,107,000 (GRCm39) T5649S possibly damaging Het
Tm2d3 T A 7: 65,344,970 (GRCm39) C82* probably null Het
Tnpo2 T C 8: 85,767,155 (GRCm39) L55P probably damaging Het
Tsc22d2 T C 3: 58,324,836 (GRCm39) probably benign Het
Ttll3 T G 6: 113,371,690 (GRCm39) V19G probably damaging Het
Ube2r2 A G 4: 41,174,119 (GRCm39) I86V probably benign Het
Vps13d G A 4: 144,814,892 (GRCm39) T3153I probably damaging Het
Wwp1 A G 4: 19,627,636 (GRCm39) I753T probably damaging Het
Other mutations in Gpd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Gpd1 APN 15 99,618,532 (GRCm39) missense probably benign 0.01
IGL01947:Gpd1 APN 15 99,618,112 (GRCm39) missense possibly damaging 0.64
R0366:Gpd1 UTSW 15 99,617,151 (GRCm39) missense probably damaging 1.00
R0551:Gpd1 UTSW 15 99,618,510 (GRCm39) missense possibly damaging 0.95
R1789:Gpd1 UTSW 15 99,621,083 (GRCm39) missense probably damaging 1.00
R2429:Gpd1 UTSW 15 99,618,488 (GRCm39) missense probably benign 0.01
R4130:Gpd1 UTSW 15 99,617,158 (GRCm39) splice site probably null
R5218:Gpd1 UTSW 15 99,618,011 (GRCm39) missense probably damaging 1.00
R5348:Gpd1 UTSW 15 99,620,021 (GRCm39) missense possibly damaging 0.60
R5636:Gpd1 UTSW 15 99,619,939 (GRCm39) missense probably benign
R6228:Gpd1 UTSW 15 99,621,146 (GRCm39) missense possibly damaging 0.80
R7196:Gpd1 UTSW 15 99,619,936 (GRCm39) missense probably benign 0.10
R7479:Gpd1 UTSW 15 99,617,984 (GRCm39) missense probably benign 0.04
R7508:Gpd1 UTSW 15 99,619,967 (GRCm39) missense probably damaging 1.00
R7509:Gpd1 UTSW 15 99,619,967 (GRCm39) missense probably damaging 1.00
R7714:Gpd1 UTSW 15 99,619,967 (GRCm39) missense probably damaging 1.00
R7716:Gpd1 UTSW 15 99,619,967 (GRCm39) missense probably damaging 1.00
R8044:Gpd1 UTSW 15 99,621,083 (GRCm39) missense probably damaging 1.00
R9747:Gpd1 UTSW 15 99,618,004 (GRCm39) missense probably benign 0.00
Posted On 2013-10-07