Incidental Mutation 'R6814:D2hgdh'
ID 533987
Institutional Source Beutler Lab
Gene Symbol D2hgdh
Ensembl Gene ENSMUSG00000073609
Gene Name D-2-hydroxyglutarate dehydrogenase
Synonyms
MMRRC Submission 044926-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # R6814 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 93752631-93780070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 93763025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 270 (T270N)
Ref Sequence ENSEMBL: ENSMUSP00000108502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097633] [ENSMUST00000112881] [ENSMUST00000188532] [ENSMUST00000189154]
AlphaFold Q8CIM3
Predicted Effect possibly damaging
Transcript: ENSMUST00000097633
AA Change: T248N

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095235
Gene: ENSMUSG00000073609
AA Change: T248N

DomainStartEndE-ValueType
Pfam:FAD_binding_4 114 253 2.7e-35 PFAM
Pfam:FAD-oxidase_C 289 530 7.3e-58 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112881
AA Change: T270N

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108502
Gene: ENSMUSG00000073609
AA Change: T270N

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:FAD_binding_4 136 275 7e-36 PFAM
Pfam:FAD-oxidase_C 311 552 4.1e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186783
Predicted Effect probably benign
Transcript: ENSMUST00000188532
Predicted Effect probably benign
Transcript: ENSMUST00000189154
SMART Domains Protein: ENSMUSP00000140506
Gene: ENSMUSG00000073609

DomainStartEndE-ValueType
Pfam:FAD_binding_4 114 179 3.2e-10 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,349,750 (GRCm39) V336I probably benign Het
Aadacl4fm4 A T 4: 144,397,216 (GRCm39) L172* probably null Het
Abca7 G A 10: 79,838,833 (GRCm39) V669I probably damaging Het
Abcg3 T C 5: 105,083,860 (GRCm39) T637A probably benign Het
Afap1l1 A T 18: 61,866,812 (GRCm39) V749E probably benign Het
Arfgef3 A G 10: 18,470,767 (GRCm39) L1666S probably damaging Het
Atp2b1 A G 10: 98,858,877 (GRCm39) N284D possibly damaging Het
Ccdc196 T A 12: 78,244,141 (GRCm39) D31E probably damaging Het
Ccdc24 T C 4: 117,727,123 (GRCm39) T196A probably benign Het
Cdc20b G A 13: 113,220,509 (GRCm39) G463S probably damaging Het
Ceacam5 A T 7: 17,486,212 (GRCm39) R570* probably null Het
Cit G A 5: 116,023,022 (GRCm39) C283Y probably damaging Het
Cpa5 A T 6: 30,614,053 (GRCm39) Q65L probably benign Het
Cspg4 A G 9: 56,797,624 (GRCm39) I1363V possibly damaging Het
Dnah8 G T 17: 30,981,653 (GRCm39) L3058F probably damaging Het
Dnajb8 A G 6: 88,200,022 (GRCm39) N186S probably damaging Het
Dock4 T C 12: 40,862,325 (GRCm39) probably null Het
Ear6 A G 14: 52,091,885 (GRCm39) Y144C probably damaging Het
Fam53a T C 5: 33,767,829 (GRCm39) Y27C probably benign Het
Fgf2 A G 3: 37,458,860 (GRCm39) K85E probably damaging Het
Fubp1 A T 3: 151,931,783 (GRCm39) Q37L probably benign Het
Gabra2 G T 5: 71,251,882 (GRCm39) P22T probably damaging Het
Gm10401 T C 5: 115,236,245 (GRCm39) probably benign Het
Iglv3 A G 16: 19,060,034 (GRCm39) I98T probably damaging Het
Nlrp2 C T 7: 5,311,709 (GRCm39) R922H probably benign Het
Nr1h4 T C 10: 89,290,607 (GRCm39) T474A probably damaging Het
Pcdhb20 A C 18: 37,639,218 (GRCm39) E581D probably benign Het
Pidd1 G T 7: 141,019,331 (GRCm39) T750K probably benign Het
Pigq A T 17: 26,150,630 (GRCm39) probably benign Het
Rab44 A G 17: 29,358,784 (GRCm39) E324G probably benign Het
Slc24a3 C T 2: 145,458,630 (GRCm39) Q537* probably null Het
Slc34a1 T C 13: 24,006,372 (GRCm39) I466T possibly damaging Het
Slc7a10 T C 7: 34,894,689 (GRCm39) V116A probably damaging Het
Taf15 T A 11: 83,389,915 (GRCm39) N228K probably damaging Het
Tbx19 A T 1: 164,975,202 (GRCm39) probably null Het
Tgoln1 A G 6: 72,592,538 (GRCm39) V314A possibly damaging Het
Them4 A T 3: 94,231,678 (GRCm39) I172F probably damaging Het
Tmc7 T A 7: 118,146,846 (GRCm39) Y477F probably benign Het
Tmem132a A G 19: 10,840,669 (GRCm39) L421P probably damaging Het
Vamp5 G A 6: 72,357,424 (GRCm39) probably benign Het
Vmn2r11 T G 5: 109,194,976 (GRCm39) R783S possibly damaging Het
Zfp180 G T 7: 23,805,306 (GRCm39) C575F probably damaging Het
Zfp189 A T 4: 49,529,026 (GRCm39) N43I probably damaging Het
Zfp36l2 A G 17: 84,493,521 (GRCm39) probably benign Het
Zfp592 T C 7: 80,673,576 (GRCm39) V180A probably benign Het
Zfp605 C T 5: 110,275,311 (GRCm39) P143L probably benign Het
Zfp646 T C 7: 127,482,505 (GRCm39) S1561P probably benign Het
Other mutations in D2hgdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02173:D2hgdh APN 1 93,757,611 (GRCm39) missense probably benign 0.06
IGL02506:D2hgdh APN 1 93,757,507 (GRCm39) missense probably damaging 0.98
IGL02995:D2hgdh APN 1 93,757,558 (GRCm39) missense probably damaging 1.00
PIT1430001:D2hgdh UTSW 1 93,754,001 (GRCm39) unclassified probably benign
PIT4418001:D2hgdh UTSW 1 93,766,590 (GRCm39) missense possibly damaging 0.90
R0069:D2hgdh UTSW 1 93,763,009 (GRCm39) missense possibly damaging 0.93
R0080:D2hgdh UTSW 1 93,754,177 (GRCm39) missense probably damaging 0.97
R0538:D2hgdh UTSW 1 93,754,099 (GRCm39) missense probably damaging 0.97
R2267:D2hgdh UTSW 1 93,763,157 (GRCm39) missense probably damaging 0.97
R2268:D2hgdh UTSW 1 93,763,157 (GRCm39) missense probably damaging 0.97
R2269:D2hgdh UTSW 1 93,763,157 (GRCm39) missense probably damaging 0.97
R4419:D2hgdh UTSW 1 93,757,535 (GRCm39) missense probably damaging 1.00
R5322:D2hgdh UTSW 1 93,757,620 (GRCm39) critical splice donor site probably null
R6018:D2hgdh UTSW 1 93,754,182 (GRCm39) missense probably benign 0.03
R6264:D2hgdh UTSW 1 93,754,177 (GRCm39) missense probably damaging 0.97
R6750:D2hgdh UTSW 1 93,754,129 (GRCm39) missense probably benign 0.01
R7058:D2hgdh UTSW 1 93,763,096 (GRCm39) missense probably damaging 1.00
R7473:D2hgdh UTSW 1 93,765,800 (GRCm39) missense probably damaging 0.96
R7683:D2hgdh UTSW 1 93,766,687 (GRCm39) critical splice donor site probably null
R9151:D2hgdh UTSW 1 93,754,338 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- TGTGACTCAATAGGGGTGGC -3'
(R):5'- TCACTCCGACATGTCCAGAG -3'

Sequencing Primer
(F):5'- CTCAATAGGGGTGGCACGGG -3'
(R):5'- TCTCCGATAGCTGGCTCAGAAG -3'
Posted On 2018-09-12