Incidental Mutation 'R4419:D2hgdh'
ID 326980
Institutional Source Beutler Lab
Gene Symbol D2hgdh
Ensembl Gene ENSMUSG00000073609
Gene Name D-2-hydroxyglutarate dehydrogenase
Synonyms
MMRRC Submission 041140-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # R4419 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 93752631-93780070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93757535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 150 (V150E)
Ref Sequence ENSEMBL: ENSMUSP00000140506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097633] [ENSMUST00000112881] [ENSMUST00000187321] [ENSMUST00000188532] [ENSMUST00000189154]
AlphaFold Q8CIM3
Predicted Effect probably damaging
Transcript: ENSMUST00000097633
AA Change: V150E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095235
Gene: ENSMUSG00000073609
AA Change: V150E

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 damaging
Transcript: ENSMUST00000112881
AA Change: V172E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108502
Gene: ENSMUSG00000073609
AA Change: V172E

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 noncoding transcript
Transcript: ENSMUST00000141701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149397
Predicted Effect unknown
Transcript: ENSMUST00000186783
AA Change: V6E
Predicted Effect probably benign
Transcript: ENSMUST00000187321
Predicted Effect probably benign
Transcript: ENSMUST00000188532
AA Change: V6E

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably damaging
Transcript: ENSMUST00000189154
AA Change: V150E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140506
Gene: ENSMUSG00000073609
AA Change: V150E

DomainStartEndE-ValueType
Pfam:FAD_binding_4 114 179 3.2e-10 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amdhd2 G A 17: 24,377,652 (GRCm39) P126L probably benign Het
Arfip2 T C 7: 105,288,270 (GRCm39) T44A probably damaging Het
B4galt1 A G 4: 40,853,537 (GRCm39) V90A probably benign Het
Bad C A 19: 6,928,053 (GRCm39) A115E probably benign Het
Bicc1 A G 10: 70,782,804 (GRCm39) L521P possibly damaging Het
Caskin1 T C 17: 24,723,683 (GRCm39) S824P probably damaging Het
Cblb T A 16: 51,867,621 (GRCm39) D76E possibly damaging Het
Celsr3 G T 9: 108,720,443 (GRCm39) A2572S possibly damaging Het
Csmd3 T C 15: 47,567,707 (GRCm39) Q2152R probably damaging Het
Ddn C A 15: 98,703,492 (GRCm39) W600L probably benign Het
Dicer1 A T 12: 104,671,373 (GRCm39) Y966N probably damaging Het
Dsp T A 13: 38,379,108 (GRCm39) I1352N probably damaging Het
Duox1 G A 2: 122,157,607 (GRCm39) A578T probably benign Het
Dysf T C 6: 84,184,224 (GRCm39) probably null Het
Elmo2 T C 2: 165,153,675 (GRCm39) probably null Het
Heg1 A T 16: 33,547,805 (GRCm39) E864V probably benign Het
Hoxb9 T C 11: 96,162,807 (GRCm39) V147A probably benign Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Ky G A 9: 102,419,909 (GRCm39) V639I probably damaging Het
Med16 G A 10: 79,734,216 (GRCm39) A566V probably benign Het
Mettl17 G T 14: 52,124,729 (GRCm39) G167C possibly damaging Het
Mgat4b T C 11: 50,123,813 (GRCm39) F318L probably damaging Het
Mug2 C A 6: 122,056,589 (GRCm39) A1178D probably damaging Het
Myo3b A G 2: 69,926,706 (GRCm39) D51G probably damaging Het
Naip2 T C 13: 100,297,133 (GRCm39) N968D probably benign Het
Nbea T C 3: 55,917,021 (GRCm39) H820R probably damaging Het
Nqo1 C T 8: 108,118,749 (GRCm39) probably null Het
Or10ak7 A T 4: 118,791,586 (GRCm39) I153N possibly damaging Het
Or6c68 T C 10: 129,157,684 (GRCm39) F64S possibly damaging Het
Or8b51 C T 9: 38,569,365 (GRCm39) V108I probably benign Het
Ppargc1a T C 5: 51,652,044 (GRCm39) D218G probably damaging Het
Rras A G 7: 44,670,003 (GRCm39) D145G probably damaging Het
Scn3a C A 2: 65,297,304 (GRCm39) G1452C probably damaging Het
Slc22a2 C A 17: 12,831,473 (GRCm39) S421* probably null Het
Slc39a10 A G 1: 46,849,226 (GRCm39) F797L probably benign Het
Spta1 T A 1: 174,074,990 (GRCm39) Y2405* probably null Het
Ss18 A G 18: 14,766,662 (GRCm39) Y359H unknown Het
St14 C T 9: 31,008,224 (GRCm39) C537Y probably damaging Het
Tmem252 T A 19: 24,654,910 (GRCm39) Y96N probably damaging Het
Trafd1 T C 5: 121,511,396 (GRCm39) D474G probably benign Het
Trmt1l A G 1: 151,316,559 (GRCm39) I20M probably damaging Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vmn1r43 A G 6: 89,846,629 (GRCm39) S286P 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
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
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'- GCTGTAGTAGAAAGGCCTGG -3'
(R):5'- ACCAGAATGTCCCAGTCAGG -3'

Sequencing Primer
(F):5'- CCTGGAAAGGAGATCTGGTTTG -3'
(R):5'- CTAGCCTAACCACAGTCTTAGTG -3'
Posted On 2015-07-07