|Institutional Source||Beutler Lab|
|Gene Name||betaine-homocysteine methyltransferase 2|
|Is this an essential gene?||Probably non essential (E-score: 0.170)|
|Stock #||R6858 (G1)|
|Chromosomal Location||93655720-93674302 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 93671440 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 47 (E47K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000015941 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000015941] [ENSMUST00000048001]|
|Predicted Effect||probably damaging
AA Change: E47K
PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
AA Change: E47K
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||96% (49/51)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bhmt2||
(F):5'- ACAACTGCCATGACCTTCG -3'
(R):5'- GCCCAGAAACCATGCTATAATGTC -3'
(F):5'- CGCTTCTTGGCAGTTCTGCAAG -3'
(R):5'- CAAGGCTGCCATTCTTAAAGTTTG -3'