|Institutional Source||Beutler Lab|
|Gene Name||uroplakin 1B|
|Is this an essential gene?||Probably non essential (E-score: 0.112)|
|Stock #||R1755 (G1)|
|Chromosomal Location||38773184-38800328 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 38780040 bp|
|Amino Acid Change||Methionine to Leucine at position 193 (M193L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000052469 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057767]|
|Predicted Effect||probably benign
AA Change: M193L
PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
AA Change: M193L
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can form a complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for a reporter allele are viable, fertile, and physically and behaviorally normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Upk1b||
(F):5'- CATCAGCCCAGAAGCACTTTTGC -3'
(R):5'- CCACAAAGCCTTGGTTGTGACATTG -3'
(F):5'- GCTACAGAAATCTTCATGTCGCAG -3'
(R):5'- CTTGGTTGTGACATTGGTGGC -3'