Incidental Mutation 'R8788:Upk1b'
ID 670787
Institutional Source Beutler Lab
Gene Symbol Upk1b
Ensembl Gene ENSMUSG00000049436
Gene Name uroplakin 1B
Synonyms Tspan20, Upk1
MMRRC Submission 068607-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8788 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 38593544-38620565 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38607463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 88 (L88P)
Ref Sequence ENSEMBL: ENSMUSP00000052469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057767]
AlphaFold Q9Z2C6
Predicted Effect probably damaging
Transcript: ENSMUST00000057767
AA Change: L88P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052469
Gene: ENSMUSG00000049436
AA Change: L88P

DomainStartEndE-ValueType
Pfam:Tetraspannin 10 258 6.9e-29 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (53/53)
MGI Phenotype 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
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 A T 10: 69,718,256 (GRCm39) L502F unknown Het
Btbd8 A G 5: 107,618,853 (GRCm39) *252W probably null Het
Btnl9 T A 11: 49,066,614 (GRCm39) M336L probably benign Het
Cd72 T C 4: 43,450,185 (GRCm39) E241G probably benign Het
Cdh23 T A 10: 60,324,372 (GRCm39) N296I probably damaging Het
Celf6 C A 9: 59,485,750 (GRCm39) S30R possibly damaging Het
Crxos T C 7: 15,632,499 (GRCm39) Y102H probably benign Het
Csmd3 A T 15: 47,470,513 (GRCm39) S2477T Het
Evi2a T A 11: 79,418,531 (GRCm39) R26S probably benign Het
Ezr T C 17: 7,021,392 (GRCm39) M182V probably benign Het
Fat2 G T 11: 55,171,929 (GRCm39) A2928D possibly damaging Het
Fetub A T 16: 22,758,182 (GRCm39) K322* probably null Het
Fscb T C 12: 64,518,395 (GRCm39) T1024A unknown Het
Gdpd1 A G 11: 86,950,318 (GRCm39) V85A probably damaging Het
Gm38119 G T 3: 92,645,537 (GRCm39) P19H unknown Het
Gpr182 T C 10: 127,586,529 (GRCm39) T141A probably benign Het
Inpp5d G A 1: 87,611,484 (GRCm39) G312D probably damaging Het
Kif26b G A 1: 178,357,090 (GRCm39) probably benign Het
Krtap5-1 ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG 7: 141,850,333 (GRCm39) probably benign Het
Lcor C T 19: 41,573,698 (GRCm39) R818W probably damaging Het
Maf T A 8: 116,432,612 (GRCm39) I331F probably damaging Het
Mark3 C A 12: 111,613,124 (GRCm39) S529R probably benign Het
Mmp10 A G 9: 7,502,687 (GRCm39) probably benign Het
Mrps30 T C 13: 118,523,538 (GRCm39) E78G possibly damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nhsl3 A G 4: 129,119,743 (GRCm39) V97A probably benign Het
Or4c116 T C 2: 88,942,626 (GRCm39) T77A probably benign Het
Pcdh12 G A 18: 38,416,109 (GRCm39) L339F probably benign Het
Pdgfd A G 9: 6,377,000 (GRCm39) S365G probably benign Het
Piezo1 T C 8: 123,228,533 (GRCm39) M281V Het
Prkg2 C T 5: 99,117,839 (GRCm39) E501K probably damaging Het
Recql5 T C 11: 115,786,628 (GRCm39) I563V probably benign Het
Rfx7 T C 9: 72,524,795 (GRCm39) S662P probably benign Het
Ric8a A G 7: 140,438,806 (GRCm39) T252A probably benign Het
Sbf1 C T 15: 89,186,062 (GRCm39) R984H probably damaging Het
Sel1l3 G T 5: 53,332,148 (GRCm39) Y412* probably null Het
Slc17a6 G A 7: 51,298,908 (GRCm39) A224T probably damaging Het
Slco1a8 A T 6: 141,933,570 (GRCm39) V425D probably benign Het
Smarca4 T C 9: 21,550,024 (GRCm39) I378T probably damaging Het
Tatdn1 T C 15: 58,762,543 (GRCm39) *265W probably null Het
Tcaf2 A G 6: 42,606,472 (GRCm39) L494P probably damaging Het
Tcl1b2 T C 12: 105,113,380 (GRCm39) L11P probably benign Het
Thrb A G 14: 18,002,558 (GRCm38) E119G probably damaging Het
Tll2 T C 19: 41,109,814 (GRCm39) T317A probably benign Het
Tob2 AGATGATGA AGATGA 15: 81,735,928 (GRCm39) probably benign Het
Uri1 T C 7: 37,661,003 (GRCm39) I30V Het
Ush2a A T 1: 188,475,816 (GRCm39) R2918* probably null Het
Vax1 T C 19: 59,158,247 (GRCm39) D72G unknown Het
Vmn2r38 C A 7: 9,078,482 (GRCm39) M633I probably benign Het
Vmn2r95 A G 17: 18,671,790 (GRCm39) D581G probably benign Het
Vps13d A G 4: 144,813,305 (GRCm39) F3324L Het
Xrcc6 C T 15: 81,911,583 (GRCm39) L309F probably damaging Het
Xrra1 A G 7: 99,555,761 (GRCm39) Y376C probably benign Het
Zfp329 T C 7: 12,544,490 (GRCm39) T345A possibly damaging Het
Zfp574 T A 7: 24,779,816 (GRCm39) N279K unknown Het
Zfp804b T C 5: 6,822,635 (GRCm39) M143V probably benign Het
Other mutations in Upk1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Upk1b APN 16 38,600,378 (GRCm39) missense possibly damaging 0.93
IGL00953:Upk1b APN 16 38,600,347 (GRCm39) missense possibly damaging 0.95
IGL02879:Upk1b APN 16 38,596,640 (GRCm39) splice site probably benign
IGL03067:Upk1b APN 16 38,605,272 (GRCm39) missense probably damaging 1.00
R0969:Upk1b UTSW 16 38,607,661 (GRCm39) splice site probably benign
R1755:Upk1b UTSW 16 38,600,402 (GRCm39) missense probably benign 0.04
R1916:Upk1b UTSW 16 38,596,548 (GRCm39) critical splice donor site probably null
R1989:Upk1b UTSW 16 38,604,603 (GRCm39) missense possibly damaging 0.94
R2101:Upk1b UTSW 16 38,600,499 (GRCm39) nonsense probably null
R2375:Upk1b UTSW 16 38,607,490 (GRCm39) missense probably damaging 1.00
R4564:Upk1b UTSW 16 38,600,469 (GRCm39) missense probably benign 0.00
R4796:Upk1b UTSW 16 38,607,604 (GRCm39) missense probably benign 0.28
R8263:Upk1b UTSW 16 38,604,585 (GRCm39) missense probably damaging 1.00
R9008:Upk1b UTSW 16 38,607,570 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCCCAGGAAAACAACTGC -3'
(R):5'- CTGACAGCAGAGTGTATCTTCTTTG -3'

Sequencing Primer
(F):5'- GCTACGTAGCCAAGGATTACCTG -3'
(R):5'- GTATCTGACCAACACAGTCTTTAC -3'
Posted On 2021-04-30