Mutagenetix > Incidental Mutation

Incidental Mutation 'R2924:Upk3a'

255679

Institutional Source

Beutler Lab

Gene Symbol

Upk3a

Ensembl Gene

ENSMUSG00000022435

Gene Name

uroplakin 3A

Synonyms

Upk3, 1110017C07Rik

MMRRC Submission

040509-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R2924 (G1)

Quality Score

225

Status

Not validated

Chromosome

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

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl9	A	G	3: 97,117,069 (GRCm39)	S542P	probably benign	Het
Cass4	A	G	2: 172,268,592 (GRCm39)	R225G	possibly damaging	Het
Ddx50	A	T	10: 62,463,373 (GRCm39)	V440E	probably damaging	Het
Dmrtc2	G	A	7: 24,571,941 (GRCm39)	C12Y	probably damaging	Het
Dock6	A	T	9: 21,720,926 (GRCm39)	I1693N	probably damaging	Het
Fuom	T	C	7: 139,679,862 (GRCm39)	T110A	probably benign	Het
Gli2	C	T	1: 118,764,089 (GRCm39)	R1354H	probably benign	Het
Gm5478	A	T	15: 101,552,229 (GRCm39)		probably null	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Il2rb	T	C	15: 78,376,049 (GRCm39)	M1V	probably null	Het
Ints6l	A	G	X: 55,550,196 (GRCm39)	E483G	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Man2b2	A	G	5: 36,981,446 (GRCm39)	F224L	probably benign	Het
Mrgpra1	G	A	7: 46,984,618 (GRCm39)		probably null	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
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Nup214	A	G	2: 31,888,015 (GRCm39)	K15E	probably damaging	Het
Or1e34	A	G	11: 73,778,337 (GRCm39)	I287T	probably damaging	Het
Oxr1	T	C	15: 41,689,353 (GRCm39)	Y526H	probably benign	Het
Plec	A	G	15: 76,062,452 (GRCm39)	F2563S	probably damaging	Het
Prex2	A	G	1: 11,168,711 (GRCm39)	T236A	probably damaging	Het
Rbbp5	G	C	1: 132,420,401 (GRCm39)		probably null	Het
Slc24a2	A	G	4: 86,929,961 (GRCm39)	S512P	probably benign	Het
Srd5a1	A	G	13: 69,734,834 (GRCm39)	S191P	probably damaging	Het
Syt3	T	A	7: 44,045,222 (GRCm39)	V518E	probably damaging	Het
Tmem132e	T	C	11: 82,335,149 (GRCm39)	S652P	probably damaging	Het
Uba6	A	T	5: 86,307,130 (GRCm39)	V102D	probably damaging	Het
Unc13a	A	G	8: 72,097,596 (GRCm39)	V1158A	possibly damaging	Het
Zc3hav1	T	C	6: 38,331,045 (GRCm39)	Y38C	probably damaging	Het
Zfp119a	C	A	17: 56,175,343 (GRCm39)	D51Y	possibly damaging	Het

Other mutations in Upk3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R2925: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'- ACAGTGGCTCTAAAGTGGGC -3'

Sequencing Primer
(F):5'- CAAGGGCCCAGAGGTCAG -3'
(R):5'- AAACTGGTGTGGCTCCCTC -3'

Posted On

2014-12-29