|Institutional Source||Beutler Lab|
|Gene Name||L-2-hydroxyglutarate dehydrogenase|
|Is this an essential gene?||Possibly non essential (E-score: 0.315)|
|Stock #||R1421 (G1)|
|Chromosomal Location||69690433-69724873 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 69701318 bp|
|Amino Acid Change||Aspartic acid to Asparagine at position 345 (D345N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021370 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021370]|
|Predicted Effect||probably benign
AA Change: D345N
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: D345N
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||96% (54/56)|
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'- TGTGAGGCAGTAAAGCATTACACTTGG -3'
(R):5'- ACTGTGCTAACCGTTCATCGTTGTG -3'
(F):5'- TGGAAAAACCCTCTTGCTGG -3'
(R):5'- CTAACCGTTCATCGTTGTGTTGAG -3'