|Institutional Source||Beutler Lab|
|Gene Name||lactate dehydrogenase B|
|Synonyms||Ldh-2, lactate dehydrogenase-B, H-Ldh|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6499 (G1)|
|Chromosomal Location||142490249-142507957 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 142494121 bp (GRCm38)|
|Amino Acid Change||Valine to Glutamic Acid at position 231 (V231E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032373 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032373] [ENSMUST00000134191]|
AA Change: V231E
PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: V231E
AA Change: V164E
PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
|Coding Region Coverage||
|Validation Efficiency||98% (43/44)|
FUNCTION: This gene encodes the B subunit of lactate dehydrogenase enzyme, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+ in a post-glycolysis process. Alternatively spliced transcript variants have also been found for this gene. Recent studies have shown that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Pseudogenes have been identified on chromosomes 1 and 19. [provided by RefSeq, Feb 2016]
PHENOTYPE: Electrophoretic variants of LDHB are determined by: the a allele with fast anodal mobility in all inbred strains tested; and the b allele with slower mobility in Peru-Coppock stock. Three additional variants are known in wild M. spretus from southern France and Spain. Alleles are codominant. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ldhb||
(F):5'- TGTCTCTACATTTGCCGGG -3'
(R):5'- ACTCTACCAGGGACAATTGCC -3'
(F):5'- GGTTTTCCCCTGAGAACACAC -3'
(R):5'- TCTACCAGGGACAATTGCCATTAG -3'