Incidental Mutation 'IGL01871:L2hgdh'
ID 178701
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol L2hgdh
Ensembl Gene ENSMUSG00000020988
Gene Name L-2-hydroxyglutarate dehydrogenase
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.212) question?
Stock # IGL01871
Quality Score
Chromosome 12
Chromosomal Location 69690433-69724873 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69722095 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 81 (E81G)
Ref Sequence ENSEMBL: ENSMUSP00000021370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021370] [ENSMUST00000021372] [ENSMUST00000220460] [ENSMUST00000220539] [ENSMUST00000220916] [ENSMUST00000222950]
AlphaFold Q91YP0
Predicted Effect probably damaging
Transcript: ENSMUST00000021370
AA Change: E81G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021370
Gene: ENSMUSG00000020988
AA Change: E81G

low complexity region 39 49 N/A INTRINSIC
Pfam:DAO 51 457 1.9e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000021372
SMART Domains Protein: ENSMUSP00000021372
Gene: ENSMUSG00000054894

PDB:3E4G|A 26 200 1e-102 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000220460
Predicted Effect probably benign
Transcript: ENSMUST00000220539
Predicted Effect probably benign
Transcript: ENSMUST00000220916
Predicted Effect probably benign
Transcript: ENSMUST00000222950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222972
Predicted Effect probably benign
Transcript: ENSMUST00000223387
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit increased levels of lysine and arginine associated with decreases in saccharopine, glutamine, and glutamate in adult brains, neurobehavioral deficits, and brain spongiosis with vacuolar lesions mostly affecting oligodendrocytes and myelin sheaths. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,472,394 probably null Het
Aqp7 G A 4: 41,045,321 R20* probably null Het
Asxl2 G T 12: 3,502,112 V1285L probably benign Het
Bdp1 A T 13: 100,066,053 S688T probably benign Het
Cc2d2a A T 5: 43,688,969 I357F probably damaging Het
Clasp1 A T 1: 118,570,889 I884F probably damaging Het
Cpne4 T G 9: 104,925,757 M200R possibly damaging Het
Cyp2d10 T A 15: 82,403,885 D180V probably damaging Het
Dicer1 A T 12: 104,704,180 V1042D probably damaging Het
Dlc1 G A 8: 36,850,180 T447I probably damaging Het
Efl1 T C 7: 82,763,319 M972T possibly damaging Het
Erbin A G 13: 103,834,766 S781P probably damaging Het
Fam46b A G 4: 133,486,309 I164V possibly damaging Het
Galnt4 G A 10: 99,109,241 G276D probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gmppa A G 1: 75,437,017 I41V probably damaging Het
Golga1 C T 2: 39,050,198 probably benign Het
H2-Ob G T 17: 34,242,545 W86L probably damaging Het
Hnrnpr G A 4: 136,339,574 R482H unknown Het
Mre11a T C 9: 14,811,897 V389A possibly damaging Het
Mxra8 A G 4: 155,842,801 T372A probably benign Het
Ncapg T A 5: 45,688,581 S593R probably benign Het
Ndufaf1 C T 2: 119,658,287 W250* probably null Het
Neb T C 2: 52,153,069 E6783G probably damaging Het
Nmt2 T C 2: 3,312,674 Y175H probably damaging Het
Olfml2b T C 1: 170,662,355 probably benign Het
Pitpnm3 T A 11: 72,056,138 M812L probably damaging Het
Pou2f3 A G 9: 43,134,473 probably benign Het
Prkdc A G 16: 15,783,087 T2871A probably benign Het
Rapgef4 A G 2: 72,198,360 T392A possibly damaging Het
Rhov G T 2: 119,270,738 Q71K probably benign Het
Slc22a15 T C 3: 101,860,794 probably benign Het
Spaca1 T A 4: 34,040,894 N22Y probably damaging Het
Stmnd1 A G 13: 46,289,713 E107G probably damaging Het
Timm22 T C 11: 76,407,437 V78A probably damaging Het
Usp47 T C 7: 112,077,786 probably benign Het
Utp4 A C 8: 106,912,317 K419T probably benign Het
Zfp410 T C 12: 84,325,791 probably null Het
Other mutations in L2hgdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:L2hgdh APN 12 69701434 missense possibly damaging 0.67
IGL01505:L2hgdh APN 12 69721401 missense probably damaging 1.00
IGL02169:L2hgdh APN 12 69721397 missense probably damaging 1.00
IGL02253:L2hgdh APN 12 69705760 splice site probably benign
IGL02670:L2hgdh APN 12 69692480 missense possibly damaging 0.86
IGL03069:L2hgdh APN 12 69692399 missense probably benign
R0054:L2hgdh UTSW 12 69721331 missense possibly damaging 0.82
R0106:L2hgdh UTSW 12 69705789 nonsense probably null
R0106:L2hgdh UTSW 12 69705789 nonsense probably null
R0579:L2hgdh UTSW 12 69701272 splice site probably benign
R1421:L2hgdh UTSW 12 69701318 missense probably benign
R1797:L2hgdh UTSW 12 69699566 missense probably benign
R3082:L2hgdh UTSW 12 69722084 missense probably benign 0.00
R7640:L2hgdh UTSW 12 69721357 nonsense probably null
R9087:L2hgdh UTSW 12 69702357 missense probably benign
R9582:L2hgdh UTSW 12 69692398 missense probably benign 0.02
Z1176:L2hgdh UTSW 12 69707132 missense probably benign 0.02
Posted On 2014-05-07