|Institutional Source||Beutler Lab|
|Gene Name||uroplakin 2|
|Synonyms||uroplakin II, UPII|
|Is this an essential gene?||Probably non essential (E-score: 0.085)|
|Stock #||R4865 (G1)|
|Chromosomal Location||44452715-44454976 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 44454085 bp|
|Amino Acid Change||Valine to Alanine at position 62 (V62A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040481 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047740]|
|Predicted Effect||probably damaging
AA Change: V62A
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: V62A
|Meta Mutation Damage Score||0.3574|
|Coding Region Coverage||
|Validation Efficiency||98% (86/88)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the proteins of the highly conserved urothelium-specific integral membrane proteins of the asymmetric unit membrane which forms urothelium apical plaques in mammals. The asymmetric unit membrane is believed to strengthen the urothelium by preventing cell rupture during bladder distention. The encoded protein is expressed in the peripheral blood of bladder cancer patients with transitional cell carcinomas.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice display abnormal urothelium that lacks umbrella cells, hydronephrosis, partial or complete ureter obstruction, increased vesicoureteral reflux, increased blood urea nitrogen levels, polyuria, and partial postnatal lethality with growth retardation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Upk2||
(F):5'- TTGTCACCTGATATGCGCTG -3'
(R):5'- CGCCAGCTCTGAGTTAAGAG -3'
(F):5'- CTTGTGACGGTGTAGCCAGAC -3'
(R):5'- CTCTGAGTTAAGAGGGGGCTAACTC -3'