Incidental Mutation 'R5218:Gpd1'
ID 403623
Institutional Source Beutler Lab
Gene Symbol Gpd1
Ensembl Gene ENSMUSG00000023019
Gene Name glycerol-3-phosphate dehydrogenase 1 (soluble)
Synonyms Gdc1, Gdc-1
MMRRC Submission 042791-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5218 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 99615468-99622895 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99618011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 109 (I109N)
Ref Sequence ENSEMBL: ENSMUSP00000125164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023760] [ENSMUST00000162194]
AlphaFold P13707
Predicted Effect probably damaging
Transcript: ENSMUST00000023760
AA Change: I132N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023760
Gene: ENSMUSG00000023019
AA Change: I132N

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: I109N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125164
Gene: ENSMUSG00000023019
AA Change: I109N

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
Meta Mutation Damage Score 0.9099 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (60/60)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,629,628 (GRCm39) N230K possibly damaging Het
4933428M09Rik G T X: 138,080,282 (GRCm39) G16* probably null Het
Albfm1 A G 5: 90,729,777 (GRCm39) K400R probably benign Het
Amigo1 A G 3: 108,095,086 (GRCm39) probably null Het
Arhgap30 A T 1: 171,236,328 (GRCm39) T901S probably benign Het
Arpp21 T C 9: 111,972,499 (GRCm39) D264G probably damaging Het
Ccbe1 C T 18: 66,216,229 (GRCm39) G165S probably damaging Het
Celsr1 T C 15: 85,816,585 (GRCm39) D1786G probably damaging Het
Cntn1 T C 15: 92,237,430 (GRCm39) L1008P unknown Het
Dclk2 T A 3: 86,712,985 (GRCm39) D489V probably damaging Het
Dip2b T A 15: 100,052,177 (GRCm39) D259E probably benign Het
Disp3 T C 4: 148,327,333 (GRCm39) S1184G possibly damaging Het
Dync1li2 C T 8: 105,169,179 (GRCm39) W36* probably null Het
Ece2 A T 16: 20,437,290 (GRCm39) M211L probably benign Het
Edn3 C T 2: 174,603,345 (GRCm39) A31V probably benign Het
Enpp2 T C 15: 54,750,982 (GRCm39) Q266R possibly damaging Het
Fabp1 C A 6: 71,176,944 (GRCm39) Q12K probably damaging Het
Flt1 G A 5: 147,618,738 (GRCm39) T199M probably damaging Het
Galns T A 8: 123,325,328 (GRCm39) I275F probably damaging Het
Gapvd1 T C 2: 34,618,488 (GRCm39) D295G probably benign Het
Gatb A G 3: 85,511,751 (GRCm39) I169V probably benign Het
Gps2 T C 11: 69,807,121 (GRCm39) probably null Het
Hsd17b12 T C 2: 93,913,608 (GRCm39) N99D probably benign Het
Itga3 A T 11: 94,953,574 (GRCm39) V256E probably benign Het
Kcnma1 T A 14: 23,513,253 (GRCm39) Y527F probably damaging Het
Lamc1 C A 1: 153,103,442 (GRCm39) V1375L probably damaging Het
Lrp1 C A 10: 127,384,488 (GRCm39) E3580D probably damaging Het
Ltbp4 AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC AATTCAGGCCTAGGCTGGGATTCAGGC 7: 27,026,736 (GRCm39) probably benign Het
Medag A T 5: 149,345,719 (GRCm39) probably benign Het
Ncdn C A 4: 126,644,603 (GRCm39) R73L probably benign Het
Nr4a1 T C 15: 101,170,034 (GRCm39) V339A probably benign Het
Ocln G T 13: 100,642,822 (GRCm39) P420Q probably damaging Het
Or5ac24 A T 16: 59,165,270 (GRCm39) S265T probably benign Het
Pank4 C T 4: 155,064,185 (GRCm39) T681I probably benign Het
Pcdhb6 T A 18: 37,467,388 (GRCm39) V103E possibly damaging Het
Pcsk6 T C 7: 65,675,036 (GRCm39) F469S probably benign Het
Phrf1 A G 7: 140,841,214 (GRCm39) N1353S possibly damaging Het
Pou6f2 A G 13: 18,326,586 (GRCm39) I72T probably damaging Het
Ppig T C 2: 69,563,127 (GRCm39) probably benign Het
Ptprh T C 7: 4,600,919 (GRCm39) S153G probably benign Het
Rab11b T C 17: 33,967,924 (GRCm39) N91S probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Slc2a9 A G 5: 38,610,524 (GRCm39) S92P probably damaging Het
Slit3 G A 11: 35,575,002 (GRCm39) probably null Het
Sox5 T C 6: 143,906,616 (GRCm39) I280V possibly damaging Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Tdrd9 C T 12: 112,029,909 (GRCm39) probably benign Het
Tmem273 T A 14: 32,538,793 (GRCm39) probably null Het
Tmem74 A T 15: 43,730,640 (GRCm39) N134K possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Txnl1 T G 18: 63,812,538 (GRCm39) K85N probably benign Het
Vmn2r77 T A 7: 86,451,341 (GRCm39) M409K probably damaging Het
Wipf1 T C 2: 73,274,812 (GRCm39) D53G probably damaging Het
Wnt10a G A 1: 74,832,754 (GRCm39) V116I probably benign Het
Xpot T A 10: 121,455,043 (GRCm39) D33V probably damaging Het
Znrf3 C T 11: 5,231,519 (GRCm39) V665M possibly 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
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
Predicted Primers PCR Primer
(F):5'- AGAATGCTTCTAAGAGGTAGGCTG -3'
(R):5'- TTTCCCTGCTGTGGAGGGAC -3'

Sequencing Primer
(F):5'- TGCTTCTAAGAGGTAGGCTGGATAAG -3'
(R):5'- CTGCTGTGGAGGGACCGATAG -3'
Posted On 2016-07-22