Incidental Mutation 'IGL02169:L2hgdh'
ID282839
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol L2hgdh
Ensembl Gene ENSMUSG00000020988
Gene NameL-2-hydroxyglutarate dehydrogenase
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.162) question?
Stock #IGL02169
Quality Score
Status
Chromosome12
Chromosomal Location69690433-69724873 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 69721397 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 109 (L109Q)
Ref Sequence ENSEMBL: ENSMUSP00000021370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021370] [ENSMUST00000021372] [ENSMUST00000220460] [ENSMUST00000220539] [ENSMUST00000220916] [ENSMUST00000222950]
Predicted Effect probably damaging
Transcript: ENSMUST00000021370
AA Change: L109Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021370
Gene: ENSMUSG00000020988
AA Change: L109Q

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,952,582 I1001F probably damaging Het
Amfr A T 8: 94,005,230 probably null Het
Apol7c T G 15: 77,526,416 D110A possibly damaging Het
Bcr A G 10: 75,159,882 N899S probably benign Het
Ccnt2 T A 1: 127,774,389 probably benign Het
Clptm1l G A 13: 73,611,663 V281I probably damaging Het
Ctsr A G 13: 61,163,240 probably benign Het
Dbh G A 2: 27,174,898 V374M probably damaging Het
Eif3b A G 5: 140,430,081 D385G possibly damaging Het
F830045P16Rik A G 2: 129,463,572 V294A probably damaging Het
Foxj2 A G 6: 122,828,466 N99S probably damaging Het
Gabrr1 T G 4: 33,160,261 V315G probably damaging Het
Gm21988 T C 11: 70,238,938 E25G probably benign Het
Islr A T 9: 58,158,132 F31I possibly damaging Het
Lrp6 A G 6: 134,513,327 I96T probably damaging Het
Nup93 A G 8: 94,302,129 D330G probably damaging Het
Olfr1080 T C 2: 86,553,882 M81V probably benign Het
Olfr703 T A 7: 106,845,266 Y218* probably null Het
Phtf1 C A 3: 103,997,499 L488I probably benign Het
Plac8l1 T C 18: 42,178,943 D137G probably damaging Het
Pth1r G A 9: 110,724,435 T392I probably damaging Het
Rab43 A G 6: 87,811,424 F41L probably damaging Het
Ralgapb C T 2: 158,426,204 L76F probably damaging Het
Ros1 A G 10: 52,081,957 probably null Het
Rpl27a T C 7: 109,519,978 I43T probably benign Het
Set G A 2: 30,069,524 D129N possibly damaging Het
Sorbs2 A T 8: 45,823,749 Y604F probably damaging Het
Tg T C 15: 66,757,943 V491A probably benign Het
Txlna T C 4: 129,629,613 T429A probably damaging Het
Vmn1r128 C T 7: 21,350,238 P289L probably damaging Het
Wfs1 A G 5: 36,968,479 F356S probably damaging Het
Zfp687 G A 3: 95,011,432 T343I probably damaging Het
Zfp935 A G 13: 62,456,931 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
IGL01871:L2hgdh APN 12 69722095 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
Z1176:L2hgdh UTSW 12 69707132 missense probably benign 0.02
Posted On2015-04-16