Incidental Mutation 'R2925:Upk3a'
ID 255727
Institutional Source Beutler Lab
Gene Symbol Upk3a
Ensembl Gene ENSMUSG00000022435
Gene Name uroplakin 3A
Synonyms Upk3, 1110017C07Rik
MMRRC Submission 040510-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R2925 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 84901342-84906748 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84902350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 59 (Y59C)
Ref Sequence ENSEMBL: ENSMUSP00000023070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023070]
AlphaFold Q9JKX8
Predicted Effect probably benign
Transcript: ENSMUST00000023070
AA Change: Y59C

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000023070
Gene: ENSMUSG00000022435
AA Change: Y59C

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
transmembrane domain 213 235 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230801
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 95% (40/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with renal adysplasia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous null mice exhibit urogenital defects including abnormal urothelium, vesicoureteral reflux, and hydronephrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T C 14: 44,407,755 (GRCm39) T93A probably damaging Het
Acte1 A T 7: 143,437,736 (GRCm39) R147* probably null Het
Akr1c21 A G 13: 4,626,349 (GRCm39) probably null Het
Alk A G 17: 72,910,202 (GRCm39) V168A probably benign Het
Ap4b1 A G 3: 103,727,997 (GRCm39) E337G probably damaging Het
Bltp1 G T 3: 37,061,271 (GRCm39) A3327S probably damaging Het
Btn2a2 A G 13: 23,665,984 (GRCm39) S283P probably damaging Het
Ctcfl C T 2: 172,936,489 (GRCm39) E628K probably damaging Het
Cul9 G A 17: 46,821,907 (GRCm39) T1856M probably benign Het
Defb41 T C 1: 18,330,857 (GRCm39) D30G probably damaging Het
Dnai1 A T 4: 41,597,919 (GRCm39) I74F probably damaging Het
Ecpas T A 4: 58,833,928 (GRCm39) K851* probably null Het
Fbln2 T A 6: 91,242,837 (GRCm39) C846S probably damaging Het
Fuom T C 7: 139,679,862 (GRCm39) T110A probably benign Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Il12a TCAC TC 3: 68,605,320 (GRCm39) probably null Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Lyz3 C T 10: 117,070,336 (GRCm39) R147Q probably benign Het
Man2b2 A G 5: 36,981,446 (GRCm39) F224L probably benign Het
Mtbp G A 15: 55,483,210 (GRCm39) R429Q probably benign Het
Ncapg2 C A 12: 116,402,349 (GRCm39) T727K probably benign Het
Nek4 G A 14: 30,673,667 (GRCm39) G29S probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Nup214 A G 2: 31,888,015 (GRCm39) K15E probably damaging Het
Or5ac24 A T 16: 59,165,706 (GRCm39) Y119* probably null Het
Or5m11b T A 2: 85,806,125 (GRCm39) C179* probably null Het
Or8k32 C T 2: 86,368,891 (GRCm39) D121N probably damaging Het
Or9a4 T A 6: 40,548,342 (GRCm39) S7R probably benign Het
P2ry13 G A 3: 59,116,801 (GRCm39) H326Y probably benign Het
Plec A G 15: 76,062,452 (GRCm39) F2563S probably damaging Het
Rc3h1 A G 1: 160,782,546 (GRCm39) Y675C probably damaging Het
Samd3 T A 10: 26,127,785 (GRCm39) S288T probably benign Het
Scaf4 G T 16: 90,047,177 (GRCm39) P400Q unknown Het
Selplg T C 5: 113,958,240 (GRCm39) D22G possibly damaging Het
Slc30a6 T C 17: 74,708,999 (GRCm39) probably benign Het
Syt3 T A 7: 44,045,222 (GRCm39) V518E probably damaging Het
Tnks G A 8: 35,432,815 (GRCm39) A2V unknown Het
Usp4 T C 9: 108,245,055 (GRCm39) L331P probably damaging Het
Zbed5 A G 5: 129,932,039 (GRCm39) T663A possibly damaging Het
Zbtb11 G A 16: 55,794,447 (GRCm39) R8Q probably benign Het
Other mutations in Upk3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Upk3a APN 15 84,903,786 (GRCm39) missense probably damaging 1.00
R1298:Upk3a UTSW 15 84,904,752 (GRCm39) missense probably benign 0.04
R1791:Upk3a UTSW 15 84,904,815 (GRCm39) missense possibly damaging 0.91
R2092:Upk3a UTSW 15 84,902,286 (GRCm39) missense probably damaging 0.98
R2924:Upk3a UTSW 15 84,902,350 (GRCm39) missense probably benign 0.17
R3402:Upk3a UTSW 15 84,902,384 (GRCm39) critical splice donor site probably null
R3403:Upk3a UTSW 15 84,902,384 (GRCm39) critical splice donor site probably null
R4574:Upk3a UTSW 15 84,904,752 (GRCm39) missense possibly damaging 0.95
R4896:Upk3a UTSW 15 84,903,624 (GRCm39) missense probably benign 0.00
R5893:Upk3a UTSW 15 84,903,538 (GRCm39) missense probably damaging 1.00
R6239:Upk3a UTSW 15 84,905,515 (GRCm39) missense probably damaging 1.00
R7403:Upk3a UTSW 15 84,903,709 (GRCm39) missense possibly damaging 0.91
R7486:Upk3a UTSW 15 84,902,225 (GRCm39) critical splice acceptor site probably null
R9602:Upk3a UTSW 15 84,905,464 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGTACTGGACCTGCAGCAAG -3'
(R):5'- GTGGCTCTAAAGTGGGCAAG -3'

Sequencing Primer
(F):5'- CAAGGGCCCAGAGGTCAG -3'
(R):5'- AAACTGGTGTGGCTCCCTC -3'
Posted On 2014-12-29