|Institutional Source||Beutler Lab|
|Gene Name||UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2|
|Is this an essential gene?||Probably non essential (E-score: 0.157)|
|Stock #||R0143 (G1)|
|Chromosomal Location||143640664-143654614 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 143647334 bp|
|Amino Acid Change||Asparagine to Tyrosine at position 403 (N403Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046118 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000018337] [ENSMUST00000038252]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: N403Y
PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: N403Y
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1142|
|Coding Region Coverage||
|Validation Efficiency||97% (76/78)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes a protein that functions in N-linked glycoprotein glycosylation and shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice for a targeted mutation display hyperactivity, impaired motor coordination, decreased anxiety, increased startle reflexes, and decreased coping response. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in B3galt2||
(F):5'- AGTTGAGAGTTGATCCTGTGCCCC -3'
(R):5'- ATGAGAATTGCATTGCTCAAACACCTG -3'
(F):5'- TGCCCCCTCCCAATGAG -3'
(R):5'- GGTCCCTAATGTAAGTCTTGAACC -3'