|Institutional Source||Beutler Lab|
|Gene Name||mannosidase 2, alpha B1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8251 (G1)|
|Chromosomal Location||85083270-85098282 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 85095129 bp|
|Amino Acid Change||Valine to Methionine at position 687 (V687M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034121 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034121]|
|Predicted Effect||probably damaging
AA Change: V687M
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: V687M
|Coding Region Coverage||
|Validation Efficiency||100% (50/50)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele show urinary oligosaccharide excretion, storage of neutral sugars, oligosaccharide buildup in spleen, kidney, liver, testis and brain, clear vacuoles and axonal spheroids in CNS, PNS and other cell types, behavioralchanges, and enhanced long-term potentiation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Man2b1||
(F):5'- CCTTGCAAATGAATAAAGGCCTGAG -3'
(R):5'- AACCCTGTGAGTCCCCTAAG -3'
(F):5'- AAAGGCCTGAGTTCTATCTAGGTCC -3'
(R):5'- TGTGAGTCCCCTAAGCACCAC -3'