|Institutional Source||Beutler Lab|
|Gene Name||L-2-hydroxyglutarate dehydrogenase|
|Is this an essential gene?||Possibly non essential (E-score: 0.436)|
|Stock #||R1797 (G1)|
|Chromosomal Location||69690433-69724873 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 69699566 bp|
|Amino Acid Change||Methionine to Isoleucine at position 373 (M373I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021370 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021370]|
|Predicted Effect||probably benign
AA Change: M373I
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: M373I
|Coding Region Coverage||
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||
|Other mutations in L2hgdh||
(F):5'- AAGAGGGATGCTAGCCTCTTGG -3'
(R):5'- ACCATTCTGAAGTCGAGTTCC -3'
(F):5'- TGCTAGCCTCTTGGGAAAAAG -3'
(R):5'- AGTGAATTCCTCTCCTTATATTAGCC -3'