|Institutional Source||Beutler Lab|
|Gene Name||fucosyltransferase 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6810 (G1)|
|Chromosomal Location||45648591-45666394 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 45650505 bp|
|Amino Acid Change||Leucine to Proline at position 281 (L281P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000063719 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000069800] [ENSMUST00000210620]|
|Predicted Effect||probably damaging
AA Change: L281P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L281P
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||96% (53/55)|
FUNCTION: This gene is one of three genes in mouse which encode a galactoside 2-L-fucosyltransferase. These genes differ in their developmental- and tissue-specific expression. The encoded type II membrane protein is anchored in the Golgi apparatus and controls the final step in the creation of alpha (1,2) fucosylated carbhohydrates by the addition of a terminal fucose in an alpha (1,2) linkage. This enzyme is involved in the synthesis of the Lewis antigen as well as the H-antigen, a precursor of the A and B antigens of the ABH histo-blood group. The biological function of the fucosylated carbhohydrate products is thought to involve cell-adhesion and interactions with microorganisms. Disruption of this gene results in altered glycosylation of gastric mucosa and uterine epithelia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. Females are somewhate more susceptible to infections withCandida albicans. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fut2||
(F):5'- TGCCTTGAGATGGAAATGGGAC -3'
(R):5'- TGACCGGGGTTACCTAGAAAAG -3'
(F):5'- CCAAGGACAGGCTGGTTGTTAG -3'
(R):5'- CCTAGAAAAGGCCCTGGACAG -3'