Incidental Mutation 'IGL02928:Upk3b'
ID 363953
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Upk3b
Ensembl Gene ENSMUSG00000042985
Gene Name uroplakin 3B
Synonyms PMS2L14, UpIIIb, P35
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02928
Quality Score
Status
Chromosome 5
Chromosomal Location 136067350-136073847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136067995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 62 (E62G)
Ref Sequence ENSEMBL: ENSMUSP00000062312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062606]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000062606
AA Change: E62G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000062312
Gene: ENSMUSG00000042985
AA Change: E62G

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
transmembrane domain 197 219 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal heart, urinary bladder and upper urogenital system development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 144,980,327 (GRCm39) Y92C probably damaging Het
Aadacl4fm1 A T 4: 144,255,802 (GRCm39) L407F possibly damaging Het
Abcc3 G T 11: 94,252,132 (GRCm39) T817K possibly damaging Het
Arhgap10 G A 8: 77,977,539 (GRCm39) probably benign Het
Arhgef16 G T 4: 154,367,350 (GRCm39) Q352K probably benign Het
Cep104 A G 4: 154,065,716 (GRCm39) I68V probably benign Het
Col5a2 G A 1: 45,424,180 (GRCm39) A1082V probably benign Het
Col6a1 A T 10: 76,545,500 (GRCm39) Y991N possibly damaging Het
Ehmt2 T C 17: 35,129,798 (GRCm39) I1021T probably damaging Het
Eif2ak4 G A 2: 118,303,168 (GRCm39) probably null Het
Ern1 A G 11: 106,296,705 (GRCm39) probably benign Het
Fgf18 A T 11: 33,074,674 (GRCm39) I99N possibly damaging Het
Glp1r A G 17: 31,137,911 (GRCm39) D114G probably benign Het
Gm10553 A G 1: 85,077,933 (GRCm39) K17E possibly damaging Het
Gm5422 T A 10: 31,126,250 (GRCm39) noncoding transcript Het
Gnb1 A C 4: 155,637,863 (GRCm39) T196P probably benign Het
Ighv6-5 T A 12: 114,380,412 (GRCm39) D35V probably benign Het
Il18r1 G A 1: 40,517,711 (GRCm39) probably null Het
Ipo11 A T 13: 107,025,863 (GRCm39) probably benign Het
Itih1 T A 14: 30,659,715 (GRCm39) Q307L probably damaging Het
Mmp1b T A 9: 7,368,242 (GRCm39) *464L probably null Het
Mrps7 C T 11: 115,495,910 (GRCm39) Q113* probably null Het
Npat A C 9: 53,478,138 (GRCm39) probably benign Het
Nrp2 A G 1: 62,854,605 (GRCm39) I852V probably damaging Het
Or10ak14 A G 4: 118,611,697 (GRCm39) F15L probably damaging Het
Or5ae2 A G 7: 84,506,273 (GRCm39) E232G probably benign Het
P2rx6 T A 16: 17,382,901 (GRCm39) probably benign Het
Parp6 T A 9: 59,548,346 (GRCm39) N466K possibly damaging Het
Prss12 A T 3: 123,280,805 (GRCm39) N497Y possibly damaging Het
Psg22 T C 7: 18,453,458 (GRCm39) V51A probably damaging Het
Ptgir T C 7: 16,642,923 (GRCm39) S175P possibly damaging Het
Rd3l T C 12: 111,946,012 (GRCm39) S156G probably benign Het
Reck C T 4: 43,912,078 (GRCm39) H196Y possibly damaging Het
Rft1 T A 14: 30,385,072 (GRCm39) V165D possibly damaging Het
Rin2 A G 2: 145,701,926 (GRCm39) probably benign Het
Rufy4 A G 1: 74,168,241 (GRCm39) probably benign Het
Scfd2 G A 5: 74,691,832 (GRCm39) T150M probably damaging Het
Sgca A G 11: 94,863,129 (GRCm39) W75R probably damaging Het
Sirt7 A T 11: 120,511,042 (GRCm39) D318E probably benign Het
Smr2l A T 5: 88,424,976 (GRCm39) I14L probably benign Het
Snta1 C T 2: 154,222,959 (GRCm39) A255T probably benign Het
Stxbp2 A G 8: 3,691,736 (GRCm39) D485G probably damaging Het
Sycp1 T A 3: 102,726,134 (GRCm39) probably benign Het
Tenm2 A G 11: 35,917,997 (GRCm39) V1922A possibly damaging Het
Ttc7b A T 12: 100,369,674 (GRCm39) V365D probably damaging Het
Wdr36 T C 18: 32,980,372 (GRCm39) probably null Het
Yars2 T C 16: 16,121,410 (GRCm39) F188S probably damaging Het
Other mutations in Upk3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01417:Upk3b APN 5 136,067,920 (GRCm39) missense possibly damaging 0.93
PIT4468001:Upk3b UTSW 5 136,071,861 (GRCm39) missense probably benign 0.04
R0634:Upk3b UTSW 5 136,068,930 (GRCm39) missense possibly damaging 0.61
R5538:Upk3b UTSW 5 136,072,890 (GRCm39) missense probably benign 0.28
R6878:Upk3b UTSW 5 136,068,001 (GRCm39) missense probably benign 0.00
R7828:Upk3b UTSW 5 136,068,993 (GRCm39) missense possibly damaging 0.93
R7875:Upk3b UTSW 5 136,069,057 (GRCm39) missense probably benign 0.02
R8182:Upk3b UTSW 5 136,067,982 (GRCm39) missense probably damaging 1.00
R9578:Upk3b UTSW 5 136,067,736 (GRCm39) missense unknown
Posted On 2015-12-18