Incidental Mutation 'R1116:Upk2'
ID 97293
Institutional Source Beutler Lab
Gene Symbol Upk2
Ensembl Gene ENSMUSG00000041523
Gene Name uroplakin 2
Synonyms UPII, uroplakin II
MMRRC Submission 039189-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R1116 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 44364012-44366064 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to G at 44365086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000040481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047740] [ENSMUST00000047740]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000047740
SMART Domains Protein: ENSMUSP00000040481
Gene: ENSMUSG00000041523

DomainStartEndE-ValueType
Pfam:Uroplakin_II 6 184 6.2e-113 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000047740
SMART Domains Protein: ENSMUSP00000040481
Gene: ENSMUSG00000041523

DomainStartEndE-ValueType
Pfam:Uroplakin_II 6 184 6.2e-113 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.8%
Validation Efficiency 100% (49/49)
MGI Phenotype 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
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T C 16: 56,506,792 (GRCm39) probably benign Het
Acacb C T 5: 114,349,017 (GRCm39) P1028S probably damaging Het
Acad10 A G 5: 121,768,814 (GRCm39) F717S probably damaging Het
Adgrg6 A T 10: 14,314,172 (GRCm39) Y705N probably benign Het
Adm A G 7: 110,227,501 (GRCm39) I6V probably benign Het
Agps T G 2: 75,692,269 (GRCm39) probably benign Het
Atr C T 9: 95,749,689 (GRCm39) Q501* probably null Het
Cacna2d3 A G 14: 28,786,278 (GRCm39) probably benign Het
Ccnt1 G A 15: 98,442,219 (GRCm39) R350W probably damaging Het
Cfap74 G A 4: 155,518,453 (GRCm39) E564K probably benign Het
Clip1 T C 5: 123,717,554 (GRCm39) E1250G probably damaging Het
Cryz A C 3: 154,327,240 (GRCm39) probably benign Het
Dnah1 C A 14: 31,029,824 (GRCm39) V494F probably benign Het
Dpep3 G T 8: 106,705,461 (GRCm39) D96E probably damaging Het
Dyrk3 G A 1: 131,056,919 (GRCm39) A418V probably damaging Het
Ehf T A 2: 103,097,354 (GRCm39) N231I probably damaging Het
Eif4g3 T C 4: 137,819,086 (GRCm39) probably null Het
Ergic3 G A 2: 155,858,707 (GRCm39) V278M probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam178b A T 1: 36,617,669 (GRCm39) C82* probably null Het
Gm1647 C T 3: 69,064,205 (GRCm39) Q31* probably null Het
Got1 T A 19: 43,491,413 (GRCm39) K346* probably null Het
Grid2ip G A 5: 143,368,669 (GRCm39) G656D possibly damaging Het
Grm2 A G 9: 106,525,126 (GRCm39) Y530H probably damaging Het
Hyou1 T C 9: 44,295,978 (GRCm39) I381T probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Marchf11 T C 15: 26,409,381 (GRCm39) L360P probably damaging Het
Mettl17 T C 14: 52,127,055 (GRCm39) V281A probably benign Het
Micu2 A T 14: 58,191,657 (GRCm39) D131E probably benign Het
Mug1 G C 6: 121,847,604 (GRCm39) V661L probably benign Het
Myo18b A T 5: 112,951,145 (GRCm39) D1488E probably damaging Het
Nkg7 G A 7: 43,086,878 (GRCm39) V51I probably benign Het
Nlgn1 A C 3: 25,488,038 (GRCm39) S766A probably benign Het
Or4d2b T A 11: 87,780,234 (GRCm39) M163L probably benign Het
Otog T C 7: 45,950,025 (GRCm39) probably benign Het
Pax2 T C 19: 44,745,863 (GRCm39) S11P probably damaging Het
Pck2 A G 14: 55,782,823 (GRCm39) D392G probably benign Het
Plxnd1 A T 6: 115,943,966 (GRCm39) probably null Het
Prkdc A G 16: 15,600,943 (GRCm39) D2868G probably benign Het
Prl3d2 T C 13: 27,309,985 (GRCm39) L149P probably damaging Het
Purg A T 8: 33,876,773 (GRCm39) H137L probably benign Het
Slc38a8 A T 8: 120,222,872 (GRCm39) L150Q probably damaging Het
Tifab T A 13: 56,324,025 (GRCm39) R139S possibly damaging Het
Txndc16 T C 14: 45,400,442 (GRCm39) H353R probably benign Het
Ulbp3 A T 10: 3,070,180 (GRCm39) noncoding transcript Het
Zdhhc25 G A 15: 88,484,823 (GRCm39) V53I probably benign Het
Zfp738 T A 13: 67,818,362 (GRCm39) probably null Het
Zfp810 C T 9: 22,190,381 (GRCm39) E176K probably benign Het
Zfp846 T A 9: 20,504,559 (GRCm39) W140R possibly damaging Het
Other mutations in Upk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02629:Upk2 APN 9 44,365,436 (GRCm39) missense probably damaging 1.00
R0518:Upk2 UTSW 9 44,365,418 (GRCm39) missense probably damaging 1.00
R0521:Upk2 UTSW 9 44,365,418 (GRCm39) missense probably damaging 1.00
R1178:Upk2 UTSW 9 44,365,470 (GRCm39) missense probably benign 0.13
R4865:Upk2 UTSW 9 44,365,382 (GRCm39) missense probably damaging 1.00
R6520:Upk2 UTSW 9 44,364,803 (GRCm39) missense probably damaging 1.00
R7659:Upk2 UTSW 9 44,364,808 (GRCm39) missense probably damaging 1.00
X0065:Upk2 UTSW 9 44,365,978 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AAGGAGGACATCATCCCTCTGCAC -3'
(R):5'- ATACCCAAGAGCTGCCCGTTCTAC -3'

Sequencing Primer
(F):5'- CCTCTAGTGCAGAGATGATTGAAC -3'
(R):5'- CGTTCTACAAGAGTGGACTGC -3'
Posted On 2014-01-05