Incidental Mutation 'R1116:Upk2'
ID 97293
Institutional Source Beutler Lab
Gene Symbol Upk2
Ensembl Gene ENSMUSG00000041523
Gene Name uroplakin 2
Synonyms uroplakin II, UPII
MMRRC Submission 039189-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R1116 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 44452715-44454976 bp(-) (GRCm38)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to G at 44453789 bp (GRCm38)
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

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

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
9230019H11Rik A T 10: 3,120,180 noncoding transcript Het
Abi3bp T C 16: 56,686,429 probably benign Het
Acacb C T 5: 114,210,956 P1028S probably damaging Het
Acad10 A G 5: 121,630,751 F717S probably damaging Het
Adgrg6 A T 10: 14,438,428 Y705N probably benign Het
Adm A G 7: 110,628,294 I6V probably benign Het
Agps T G 2: 75,861,925 probably benign Het
Atr C T 9: 95,867,636 Q501* probably null Het
Cacna2d3 A G 14: 29,064,321 probably benign Het
Ccnt1 G A 15: 98,544,338 R350W probably damaging Het
Cfap74 G A 4: 155,433,996 E564K probably benign Het
Clip1 T C 5: 123,579,491 E1250G probably damaging Het
Cryz A C 3: 154,621,603 probably benign Het
Dnah1 C A 14: 31,307,867 V494F probably benign Het
Dpep3 G T 8: 105,978,829 D96E probably damaging Het
Dyrk3 G A 1: 131,129,182 A418V probably damaging Het
Ehf T A 2: 103,267,009 N231I probably damaging Het
Eif4g3 T C 4: 138,091,775 probably null Het
Ergic3 G A 2: 156,016,787 V278M probably benign Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Fam178b A T 1: 36,578,588 C82* probably null Het
Gm1647 C T 3: 69,156,872 Q31* probably null Het
Got1 T A 19: 43,502,974 K346* probably null Het
Grid2ip G A 5: 143,382,914 G656D possibly damaging Het
Grm2 A G 9: 106,647,927 Y530H probably damaging Het
Hyou1 T C 9: 44,384,681 I381T probably damaging Het
Kirrel C T 3: 87,089,151 M380I probably null Het
March11 T C 15: 26,409,295 L360P probably damaging Het
Mettl17 T C 14: 51,889,598 V281A probably benign Het
Micu2 A T 14: 57,954,200 D131E probably benign Het
Mug1 G C 6: 121,870,645 V661L probably benign Het
Myo18b A T 5: 112,803,279 D1488E probably damaging Het
Nkg7 G A 7: 43,437,454 V51I probably benign Het
Nlgn1 A C 3: 25,433,874 S766A probably benign Het
Olfr462 T A 11: 87,889,408 M163L probably benign Het
Otog T C 7: 46,300,601 probably benign Het
Pax2 T C 19: 44,757,424 S11P probably damaging Het
Pck2 A G 14: 55,545,366 D392G probably benign Het
Plxnd1 A T 6: 115,967,005 probably null Het
Prkdc A G 16: 15,783,079 D2868G probably benign Het
Prl3d2 T C 13: 27,126,002 L149P probably damaging Het
Purg A T 8: 33,386,745 H137L probably benign Het
Slc38a8 A T 8: 119,496,133 L150Q probably damaging Het
Tifab T A 13: 56,176,212 R139S possibly damaging Het
Txndc16 T C 14: 45,162,985 H353R probably benign Het
Zdhhc25 G A 15: 88,600,620 V53I probably benign Het
Zfp738 T A 13: 67,670,243 probably null Het
Zfp810 C T 9: 22,279,085 E176K probably benign Het
Zfp846 T A 9: 20,593,263 W140R possibly damaging Het
Other mutations in Upk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02629:Upk2 APN 9 44454139 missense probably damaging 1.00
R0518:Upk2 UTSW 9 44454121 missense probably damaging 1.00
R0521:Upk2 UTSW 9 44454121 missense probably damaging 1.00
R1178:Upk2 UTSW 9 44454173 missense probably benign 0.13
R4865:Upk2 UTSW 9 44454085 missense probably damaging 1.00
R6520:Upk2 UTSW 9 44453506 missense probably damaging 1.00
R7659:Upk2 UTSW 9 44453511 missense probably damaging 1.00
X0065:Upk2 UTSW 9 44454681 missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-01-05