Incidental Mutation 'R5348:Gpd1'
ID 422751
Institutional Source Beutler Lab
Gene Symbol Gpd1
Ensembl Gene ENSMUSG00000023019
Gene Name glycerol-3-phosphate dehydrogenase 1 (soluble)
Synonyms Gdc1, Gdc-1
MMRRC Submission 042927-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5348 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 99615468-99622895 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99620021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 273 (V273A)
Ref Sequence ENSEMBL: ENSMUSP00000023760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023760] [ENSMUST00000023761] [ENSMUST00000162194]
AlphaFold P13707
Predicted Effect possibly damaging
Transcript: ENSMUST00000023760
AA Change: V273A

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000023760
Gene: ENSMUSG00000023019
AA Change: V273A

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 probably benign
Transcript: ENSMUST00000023761
SMART Domains Protein: ENSMUSP00000023761
Gene: ENSMUSG00000023020

DomainStartEndE-ValueType
Pfam:COX14 1 55 1.4e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161768
Predicted Effect probably benign
Transcript: ENSMUST00000162194
AA Change: V250A

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000125164
Gene: ENSMUSG00000023019
AA Change: V250A

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
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,978,634 (GRCm39) C275S possibly damaging Het
Bltp1 A G 3: 37,102,295 (GRCm39) E1331G probably damaging Het
Cdk12 T A 11: 98,095,118 (GRCm39) S309T probably benign Het
Cep295nl T C 11: 118,224,425 (GRCm39) R140G probably damaging Het
Chd8 A G 14: 52,470,155 (GRCm39) V485A probably damaging Het
Chn2 A G 6: 54,277,203 (GRCm39) I279V probably damaging Het
Cux2 A G 5: 122,004,041 (GRCm39) S1032P probably damaging Het
Ddx55 T A 5: 124,692,628 (GRCm39) M44K probably damaging Het
Dpyd T A 3: 118,575,592 (GRCm39) H143Q probably benign Het
Fbxo10 A G 4: 45,058,934 (GRCm39) W268R probably damaging Het
Gmfg A G 7: 28,145,819 (GRCm39) D86G probably benign Het
Grhpr T C 4: 44,985,393 (GRCm39) I158T probably damaging Het
Itpr2 A G 6: 146,378,191 (GRCm39) F53L possibly damaging Het
Kctd21 A G 7: 96,997,177 (GRCm39) I217V probably benign Het
Lrfn2 A G 17: 49,403,718 (GRCm39) T614A probably benign Het
Lrrc7 T A 3: 157,880,963 (GRCm39) D491V probably benign Het
Myo7b T C 18: 32,116,972 (GRCm39) E916G probably damaging Het
Nf1 C T 11: 79,455,725 (GRCm39) T550I probably damaging Het
Nsd1 A G 13: 55,460,147 (GRCm39) T2125A probably benign Het
Olfml2b A G 1: 170,489,995 (GRCm39) E205G probably benign Het
Or8k37 A T 2: 86,469,150 (GRCm39) L301I probably benign Het
Papolb T C 5: 142,514,972 (GRCm39) T224A possibly damaging Het
Pcnx2 T C 8: 126,545,495 (GRCm39) E1172G probably damaging Het
Ppip5k2 A G 1: 97,675,317 (GRCm39) L362S possibly damaging Het
Ppp1r9b T A 11: 94,887,438 (GRCm39) Y59* probably null Het
Pramel12 T C 4: 143,143,351 (GRCm39) L39P probably damaging Het
Rapgef5 T A 12: 117,652,346 (GRCm39) S76R probably benign Het
Rnh1 A T 7: 140,743,321 (GRCm39) V218D probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Slc4a7 G T 14: 14,786,310 (GRCm38) V999L probably benign Het
Slco4c1 A T 1: 96,770,254 (GRCm39) I270N probably damaging Het
Tdp1 A G 12: 99,881,765 (GRCm39) Y498C probably damaging Het
Tfip11 A G 5: 112,483,534 (GRCm39) S650G probably benign Het
Ttn T C 2: 76,608,638 (GRCm39) T17793A possibly damaging Het
Ulk2 T C 11: 61,674,439 (GRCm39) T856A probably benign Het
Vps13d C T 4: 144,792,459 (GRCm39) G3726E probably damaging Het
Other mutations in Gpd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Gpd1 APN 15 99,618,532 (GRCm39) missense probably benign 0.01
IGL01338:Gpd1 APN 15 99,616,056 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- TCCTCAAAGAATATAGTGGCCG -3'
(R):5'- TAATGGCCCCTGTTCCAAAC -3'

Sequencing Primer
(F):5'- CTCAAAGAATATAGTGGCCGTTGGG -3'
(R):5'- ATTCCCGTGGTTGAACGCAG -3'
Posted On 2016-08-04