Incidental Mutation 'R7683:D2hgdh'
ID 592853
Institutional Source Beutler Lab
Gene Symbol D2hgdh
Ensembl Gene ENSMUSG00000073609
Gene Name D-2-hydroxyglutarate dehydrogenase
Synonyms
MMRRC Submission 045749-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # R7683 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 93752631-93780070 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 93766687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097633] [ENSMUST00000112881] [ENSMUST00000188532] [ENSMUST00000189154]
AlphaFold Q8CIM3
Predicted Effect probably null
Transcript: ENSMUST00000097633
SMART Domains Protein: ENSMUSP00000095235
Gene: ENSMUSG00000073609

DomainStartEndE-ValueType
Pfam:FAD_binding_4 114 253 2.7e-35 PFAM
Pfam:FAD-oxidase_C 289 530 7.3e-58 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112881
SMART Domains Protein: ENSMUSP00000108502
Gene: ENSMUSG00000073609

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 A G 13: 59,660,312 (GRCm39) C305R probably damaging Het
Anpep C A 7: 79,488,946 (GRCm39) V381L probably damaging Het
Ap5s1 T C 2: 131,054,627 (GRCm39) L146P probably damaging Het
Arhgef11 A G 3: 87,629,690 (GRCm39) I599V probably damaging Het
Arpc2 T C 1: 74,302,973 (GRCm39) Y250H probably damaging Het
Baz1b T A 5: 135,246,582 (GRCm39) M677K probably damaging Het
Begain C T 12: 108,999,413 (GRCm39) A453T unknown Het
C1ql4 T C 15: 98,985,092 (GRCm39) D173G probably benign Het
Card11 T G 5: 140,881,781 (GRCm39) N461T probably benign Het
Ccdc9 T C 7: 16,018,287 (GRCm39) D7G probably damaging Het
Ces2a T C 8: 105,463,744 (GRCm39) V152A probably benign Het
Chl1 G A 6: 103,668,613 (GRCm39) A449T possibly damaging Het
Col11a1 G T 3: 113,907,385 (GRCm39) G638W unknown Het
Cse1l A T 2: 166,764,708 (GRCm39) T171S probably benign Het
Dlg4 T C 11: 69,930,680 (GRCm39) Y432H possibly damaging Het
Dmwd C T 7: 18,814,660 (GRCm39) L437F probably damaging Het
F11 T A 8: 45,702,545 (GRCm39) Q251L probably damaging Het
Gtf2f1 T A 17: 57,312,458 (GRCm39) E195V possibly damaging Het
Hap1 A T 11: 100,242,374 (GRCm39) L376Q probably damaging Het
Hars2 T A 18: 36,921,289 (GRCm39) I234N probably damaging Het
Hcfc2 T C 10: 82,535,063 (GRCm39) V29A probably benign Het
Hp C T 8: 110,305,731 (GRCm39) probably benign Het
Hrh1 T C 6: 114,456,748 (GRCm39) S10P probably benign Het
Kcnmb2 A G 3: 32,252,465 (GRCm39) Y222C probably damaging Het
Kdm3a A G 6: 71,576,438 (GRCm39) V792A probably benign Het
Kif13b G A 14: 64,994,956 (GRCm39) V903I probably benign Het
Lars2 G T 9: 123,206,895 (GRCm39) probably null Het
Med7 A G 11: 46,331,687 (GRCm39) D94G possibly damaging Het
Mier3 A G 13: 111,841,846 (GRCm39) T136A probably benign Het
Nin T C 12: 70,124,956 (GRCm39) E122G Het
Or5h18 G T 16: 58,847,469 (GRCm39) T267K probably benign Het
Or6k14 A G 1: 173,927,042 (GRCm39) Q6R probably benign Het
Oxsr1 T C 9: 119,070,821 (GRCm39) I489V probably benign Het
Pdcd6ip A T 9: 113,516,763 (GRCm39) L216Q probably damaging Het
Ppp4r4 T A 12: 103,553,364 (GRCm39) C379* probably null Het
Pramel24 A T 4: 143,453,284 (GRCm39) K131* probably null Het
Ptpn13 T A 5: 103,713,018 (GRCm39) C1714S probably benign Het
Pum2 G A 12: 8,778,922 (GRCm39) R498Q possibly damaging Het
Sema3d T A 5: 12,623,823 (GRCm39) Y577* probably null Het
Slc29a3 G A 10: 60,552,145 (GRCm39) P300S not run Het
Slc5a4b A G 10: 75,899,906 (GRCm39) V444A probably damaging Het
Smad9 A G 3: 54,696,685 (GRCm39) E250G probably damaging Het
Srsf7 A G 17: 80,514,703 (GRCm39) probably benign Het
Thsd7b A G 1: 129,523,683 (GRCm39) Y239C probably damaging Het
Triml2 C A 8: 43,638,325 (GRCm39) Q98K probably damaging Het
Txndc11 A T 16: 10,902,099 (GRCm39) L705Q probably damaging Het
Vmn1r22 A G 6: 57,877,404 (GRCm39) M191T probably damaging Het
Vmn2r89 A T 14: 51,692,651 (GRCm39) K151N probably benign Het
Vwa5a A G 9: 38,646,125 (GRCm39) I498V probably damaging Het
Zfp459 T C 13: 67,556,615 (GRCm39) H156R probably damaging Het
Zscan18 T A 7: 12,503,532 (GRCm39) K676* probably null 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
R6814:D2hgdh UTSW 1 93,763,025 (GRCm39) missense possibly damaging 0.94
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
R9151:D2hgdh UTSW 1 93,754,338 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- TAACTGTGGATGCTGGCAGTC -3'
(R):5'- AAACTTTATATGCCCCAGAACAGG -3'

Sequencing Primer
(F):5'- AGTCGAGACTGTGGCTCAC -3'
(R):5'- GACTTTTGGTATAGCATTGGAAATG -3'
Posted On 2019-11-12