Incidental Mutation 'R4564:Upk1b'
ID343261
Institutional Source Beutler Lab
Gene Symbol Upk1b
Ensembl Gene ENSMUSG00000049436
Gene Nameuroplakin 1B
SynonymsTspan20, Upk1
MMRRC Submission 041789-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4564 (G1)
Quality Score225
Status Validated
Chromosome16
Chromosomal Location38773184-38800328 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 38780107 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 170 (K170N)
Ref Sequence ENSEMBL: ENSMUSP00000052469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057767]
Predicted Effect probably benign
Transcript: ENSMUST00000057767
AA Change: K170N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000052469
Gene: ENSMUSG00000049436
AA Change: K170N

DomainStartEndE-ValueType
Pfam:Tetraspannin 10 258 6.9e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232536
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 97% (58/60)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atad3a C T 4: 155,747,309 probably null Het
Bach2 T G 4: 32,563,338 S602A probably damaging Het
Ccl19 G T 4: 42,756,295 S12R probably damaging Het
Cfap54 T C 10: 92,839,540 probably benign Het
Cndp1 T A 18: 84,622,286 I265F probably damaging Het
Cnot3 G A 7: 3,653,258 R181H probably damaging Het
Dicer1 T A 12: 104,704,751 K1011* probably null Het
Dip2b G A 15: 100,157,258 W99* probably null Het
Fam129c T C 8: 71,605,060 probably benign Het
Fpr-rs6 A T 17: 20,182,906 Y64* probably null Het
Fubp1 C A 3: 152,222,936 Y480* probably null Het
Gfra1 T C 19: 58,239,250 probably null Het
Gm10770 T C 2: 150,178,911 T229A probably benign Het
Gm826 A C 2: 160,311,993 probably benign Het
Gpd2 G A 2: 57,307,083 V217I possibly damaging Het
Hectd4 T C 5: 121,350,431 I3595T probably benign Het
Lmln A G 16: 33,109,856 E561G probably benign Het
Lrrc71 T A 3: 87,745,408 probably benign Het
Man2a2 T A 7: 80,368,838 Y91F probably benign Het
Map4k4 A G 1: 39,988,975 T319A probably damaging Het
Mcm6 G T 1: 128,343,459 H474Q probably damaging Het
Mn1 C G 5: 111,420,667 N834K possibly damaging Het
Mslnl G A 17: 25,742,934 V128M probably damaging Het
Npas2 A G 1: 39,287,566 D44G probably damaging Het
Npc1 C T 18: 12,191,732 G1235R probably damaging Het
Olfml2a C T 2: 38,960,294 T674I probably benign Het
Olfr1311 A G 2: 112,021,767 L29P possibly damaging Het
Plxnb1 C T 9: 109,113,420 A1779V probably benign Het
Ppil3 T A 1: 58,431,322 D123V probably damaging Het
Prr23a3 A G 9: 98,865,137 E48G probably damaging Het
Prr5l T C 2: 101,746,749 E110G probably damaging Het
Ptgir A G 7: 16,906,869 M29V possibly damaging Het
R3hdm1 C T 1: 128,221,659 T839M probably benign Het
Rasgrf2 G A 13: 91,885,654 Q544* probably null Het
Riok3 C A 18: 12,148,879 R302S probably damaging Het
Rnf145 A G 11: 44,548,808 K144E probably benign Het
Sin3b A C 8: 72,753,581 T904P probably damaging Het
Skint4 C T 4: 112,119,869 T152M probably damaging Het
Slc22a2 A G 17: 12,610,056 I350V probably benign Het
Slc6a11 G T 6: 114,131,362 G29V probably benign Het
Speg A C 1: 75,391,834 H676P probably damaging Het
St6gal2 T A 17: 55,482,647 H227Q probably damaging Het
Strn3 A G 12: 51,633,621 S399P probably benign Het
Tbc1d1 A G 5: 64,173,484 E2G probably damaging Het
Tecpr2 T A 12: 110,954,785 M1264K probably benign Het
Tmem8 A G 17: 26,117,863 R252G possibly damaging Het
Trpm6 T C 19: 18,832,597 L1119P possibly damaging Het
Upf2 A C 2: 6,027,312 T890P unknown Het
Vmn1r78 A T 7: 12,152,558 Y32F probably damaging Het
Vps11 A G 9: 44,361,597 F12S probably damaging Het
Zfp318 T A 17: 46,412,815 C1915S possibly damaging Het
Zfp346 A C 13: 55,113,707 R103S probably damaging Het
Other mutations in Upk1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Upk1b APN 16 38780016 missense possibly damaging 0.93
IGL00953:Upk1b APN 16 38779985 missense possibly damaging 0.95
IGL02879:Upk1b APN 16 38776278 splice site probably benign
IGL03067:Upk1b APN 16 38784910 missense probably damaging 1.00
R0969:Upk1b UTSW 16 38787299 splice site probably benign
R1755:Upk1b UTSW 16 38780040 missense probably benign 0.04
R1916:Upk1b UTSW 16 38776186 critical splice donor site probably null
R1989:Upk1b UTSW 16 38784241 missense possibly damaging 0.94
R2101:Upk1b UTSW 16 38780137 nonsense probably null
R2375:Upk1b UTSW 16 38787128 missense probably damaging 1.00
R4796:Upk1b UTSW 16 38787242 missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- TCTGCTAGGTCTTCAGAGGG -3'
(R):5'- TAATGAGCCCATTCATGGCTG -3'

Sequencing Primer
(F):5'- TCTTCAGAGGGGAGACAGCTC -3'
(R):5'- GCCCATTCATGGCTGGTAAAG -3'
Posted On2015-09-24