Incidental Mutation 'R0069:D2hgdh'
ID 33080
Institutional Source Beutler Lab
Gene Symbol D2hgdh
Ensembl Gene ENSMUSG00000073609
Gene Name D-2-hydroxyglutarate dehydrogenase
Synonyms
MMRRC Submission 038360-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.273) question?
Stock # R0069 (G1)
Quality Score 167
Status Validated (trace)
Chromosome 1
Chromosomal Location 93752631-93780070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 93763009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 265 (V265L)
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: V243L

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095235
Gene: ENSMUSG00000073609
AA Change: V243L

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: V265L

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108502
Gene: ENSMUSG00000073609
AA Change: V265L

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 unknown
Transcript: ENSMUST00000186783
AA Change: G34V
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
Meta Mutation Damage Score 0.8374 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.4%
Validation Efficiency 96% (52/54)
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
A2ml1 A T 6: 128,538,525 (GRCm39) C632S probably damaging Het
Antxr2 T A 5: 98,096,109 (GRCm39) M392L possibly damaging Het
Cd101 A G 3: 100,915,533 (GRCm39) V678A probably benign Het
Clec2g T C 6: 128,957,274 (GRCm39) probably null Het
Clec2g T A 6: 128,925,716 (GRCm39) S42T probably benign Het
Creb1 A G 1: 64,615,367 (GRCm39) I240V possibly damaging Het
Dctn2 A T 10: 127,113,354 (GRCm39) probably null Het
Diablo A T 5: 123,656,087 (GRCm39) S117R probably damaging Het
Ebf2 A T 14: 67,647,499 (GRCm39) R349S probably damaging Het
Fam168a C T 7: 100,484,618 (GRCm39) A252V probably benign Het
Fbn2 T C 18: 58,202,256 (GRCm39) Y1299C probably damaging Het
Gne A C 4: 44,060,099 (GRCm39) V98G probably damaging Het
Hk2 A G 6: 82,713,509 (GRCm39) probably null Het
Ifi206 A T 1: 173,314,413 (GRCm39) V9D probably damaging Het
Ints3 A G 3: 90,307,954 (GRCm39) probably benign Het
Itgal A G 7: 126,909,503 (GRCm39) T56A probably benign Het
Lzts3 T A 2: 130,478,460 (GRCm39) T213S probably benign Het
Map1b A G 13: 99,566,356 (GRCm39) S2122P unknown Het
Mei4 C T 9: 81,907,635 (GRCm39) Q223* probably null Het
Mpzl3 T C 9: 44,979,550 (GRCm39) V167A probably damaging Het
Myo1d A G 11: 80,528,779 (GRCm39) I681T probably damaging Het
Myom2 A G 8: 15,167,624 (GRCm39) T1070A probably benign Het
Nacc1 T A 8: 85,403,828 (GRCm39) I16F probably damaging Het
Nfx1 T C 4: 40,986,688 (GRCm39) probably benign Het
Or10ak12 A T 4: 118,666,887 (GRCm39) V58D probably damaging Het
Or8g33 A G 9: 39,338,188 (GRCm39) Y60H probably damaging Het
Ostm1 A C 10: 42,568,952 (GRCm39) D37A probably benign Het
Pde8a T C 7: 80,968,871 (GRCm39) probably benign Het
Pole2 A T 12: 69,256,661 (GRCm39) V288E probably damaging Het
Poteg T C 8: 27,937,849 (GRCm39) S2P probably benign Het
Ppp2r5c A T 12: 110,534,204 (GRCm39) M356L probably benign Het
Prkdc G A 16: 15,544,368 (GRCm39) S1786N probably benign Het
Prox1 A G 1: 189,893,116 (GRCm39) V443A possibly damaging Het
Prpf6 T A 2: 181,257,756 (GRCm39) probably null Het
Ptger1 A T 8: 84,394,948 (GRCm39) T142S possibly damaging Het
Rad54l2 C A 9: 106,587,564 (GRCm39) V734L possibly damaging Het
Rnpepl1 T A 1: 92,846,620 (GRCm39) N507K possibly damaging Het
Slc38a10 A T 11: 119,997,328 (GRCm39) V722E probably damaging Het
Slfn10-ps A G 11: 82,926,368 (GRCm39) noncoding transcript Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Sult1e1 A T 5: 87,727,756 (GRCm39) H175Q probably damaging Het
Ube2e3 C A 2: 78,750,293 (GRCm39) probably benign Het
Vmn1r208 A T 13: 22,956,595 (GRCm39) W301R probably benign Het
Vps13d A G 4: 144,789,133 (GRCm39) I746T probably benign Het
Xpnpep3 T C 15: 81,314,999 (GRCm39) V233A probably benign Het
Zfp329 A T 7: 12,544,859 (GRCm39) S222T probably damaging Het
Zswim6 T C 13: 107,875,098 (GRCm39) noncoding transcript 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
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
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'- TCACTGTGACTCAATAGGGGTGGC -3'
(R):5'- AGTGTGTTCTGACCAGGAACAATCG -3'

Sequencing Primer
(F):5'- CAATAGGGGTGGCACGGG -3'
(R):5'- TTCAGGCTACACTCTGGACAC -3'
Posted On 2013-05-09