Incidental Mutation 'R7113:Upk1a'
ID 551622
Institutional Source Beutler Lab
Gene Symbol Upk1a
Ensembl Gene ENSMUSG00000006313
Gene Name uroplakin 1A
Synonyms Upk1, 1110031P12Rik, Tspan21
MMRRC Submission 045205-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R7113 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 30302517-30312159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30309236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 29 (S29P)
Ref Sequence ENSEMBL: ENSMUSP00000006476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006476]
AlphaFold Q9D132
Predicted Effect probably damaging
Transcript: ENSMUST00000006476
AA Change: S29P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006476
Gene: ENSMUSG00000006313
AA Change: S29P

DomainStartEndE-ValueType
Pfam:Tetraspannin 14 257 1.8e-27 PFAM
Meta Mutation Damage Score 0.4247 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 95% (53/56)
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 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 protein may also play a role in tumor suppression. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T C 13: 104,449,267 (GRCm39) S226P probably benign Het
Adarb2 T C 13: 8,781,881 (GRCm39) Y586H probably damaging Het
Ano7 A T 1: 93,313,342 (GRCm39) E160V probably benign Het
Apob G C 12: 8,045,539 (GRCm39) A895P probably damaging Het
Ccdc157 T C 11: 4,098,889 (GRCm39) T206A possibly damaging Het
Ceacam18 A G 7: 43,291,400 (GRCm39) N281D probably benign Het
Chil4 T C 3: 106,110,083 (GRCm39) D337G probably damaging Het
Chil4 T G 3: 106,121,664 (GRCm39) K62Q probably benign Het
Cic A T 7: 24,972,869 (GRCm39) I867F probably benign Het
Cntln A G 4: 84,968,064 (GRCm39) E761G probably damaging Het
Cyp2d26 T A 15: 82,674,403 (GRCm39) Y493F probably benign Het
Dync2h1 A T 9: 7,075,788 (GRCm39) F3026L probably benign Het
Ehd3 T A 17: 74,137,179 (GRCm39) D449E probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Herc2 T G 7: 55,853,597 (GRCm39) D3696E probably damaging Het
Hivep3 T A 4: 119,955,566 (GRCm39) I1294N probably damaging Het
Il19 T C 1: 130,862,732 (GRCm39) I139V probably benign Het
Jmjd1c T A 10: 66,993,780 (GRCm39) I87N probably damaging Het
Kcnma1 A G 14: 23,513,224 (GRCm39) Y392H probably damaging Het
Kcnv2 T C 19: 27,301,448 (GRCm39) L433P probably damaging Het
Kif9 A T 9: 110,335,732 (GRCm39) N378Y probably damaging Het
Lonrf1 A T 8: 36,697,664 (GRCm39) V440E probably benign Het
Lrrc37 A G 11: 103,509,625 (GRCm39) I781T unknown Het
Manea A T 4: 26,336,718 (GRCm39) L186Q probably damaging Het
Mas1 A G 17: 13,061,324 (GRCm39) I33T probably benign Het
Med13l A G 5: 118,864,330 (GRCm39) S389G probably benign Het
Nxph3 T C 11: 95,401,892 (GRCm39) N174S possibly damaging Het
Or1l4 T A 2: 37,091,568 (GRCm39) F105Y possibly damaging Het
Or8g52 G C 9: 39,630,973 (GRCm39) C150S probably benign Het
Pcdha5 A G 18: 37,094,757 (GRCm39) D422G probably benign Het
Pias4 A C 10: 80,990,287 (GRCm39) V416G possibly damaging Het
Pik3cg T A 12: 32,255,666 (GRCm39) Y107F probably damaging Het
Plcg1 T A 2: 160,590,203 (GRCm39) W156R possibly damaging Het
Plcl2 A G 17: 50,913,492 (GRCm39) D167G probably damaging Het
Podxl T A 6: 31,501,668 (GRCm39) probably null Het
Ppp1r2 T C 16: 31,073,536 (GRCm39) D197G probably benign Het
Ptprs C G 17: 56,758,697 (GRCm39) V175L probably benign Het
Rad17 A T 13: 100,766,025 (GRCm39) S368T probably benign Het
Rdh8 G T 9: 20,736,623 (GRCm39) R230L probably benign Het
Rpl35 A C 2: 38,894,168 (GRCm39) L58R probably damaging Het
Rtp3 A C 9: 110,815,767 (GRCm39) C199W probably damaging Het
S100pbp G A 4: 129,075,896 (GRCm39) T143I probably damaging Het
Scarf1 A G 11: 75,416,904 (GRCm39) E782G probably damaging Het
Slc30a9 T C 5: 67,484,205 (GRCm39) V114A probably benign Het
Speer1c G A 5: 10,292,977 (GRCm39) P189S Het
Stpg2 G A 3: 139,407,535 (GRCm39) probably null Het
Tdpoz1 T C 3: 93,578,113 (GRCm39) S224G possibly damaging Het
Triml2 T A 8: 43,636,370 (GRCm39) Y52N probably benign Het
Trpm2 A T 10: 77,783,765 (GRCm39) I236N probably damaging Het
Unc5c A G 3: 141,507,054 (GRCm39) D602G probably benign Het
Vmn2r54 A G 7: 12,350,001 (GRCm39) L527P probably damaging Het
Vmn2r72 A T 7: 85,399,011 (GRCm39) probably null Het
Vstm2l G T 2: 157,756,649 (GRCm39) probably benign Het
Vwf G T 6: 125,632,007 (GRCm39) G1952V Het
Zfand6 A C 7: 84,265,077 (GRCm39) I208S probably damaging Het
Zfp236 A G 18: 82,638,462 (GRCm39) I1386T possibly damaging Het
Other mutations in Upk1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02901:Upk1a APN 7 30,303,204 (GRCm39) missense possibly damaging 0.94
IGL03250:Upk1a APN 7 30,306,403 (GRCm39) missense possibly damaging 0.57
R0123:Upk1a UTSW 7 30,311,819 (GRCm39) missense possibly damaging 0.92
R1480:Upk1a UTSW 7 30,306,311 (GRCm39) missense probably benign
R1566:Upk1a UTSW 7 30,309,145 (GRCm39) missense possibly damaging 0.71
R4669:Upk1a UTSW 7 30,304,554 (GRCm39) missense probably benign 0.22
R6019:Upk1a UTSW 7 30,311,810 (GRCm39) critical splice donor site probably null
R7434:Upk1a UTSW 7 30,306,617 (GRCm39) missense probably damaging 0.99
R8428:Upk1a UTSW 7 30,303,043 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCATGTACCGACGACGACAG -3'
(R):5'- TGTTGTTGAAGCAACCAGCC -3'

Sequencing Primer
(F):5'- ACGACGACAGAGCGCAG -3'
(R):5'- GGGGGCTGAGGTTCTACC -3'
Posted On 2019-05-15