Mutagenetix > Incidental Mutation

Incidental Mutation 'R4574:Upk3a'

342355

Institutional Source

Beutler Lab

Gene Symbol

Upk3a

Ensembl Gene

ENSMUSG00000022435

Gene Name

uroplakin 3A

Synonyms

Upk3, 1110017C07Rik

MMRRC Submission

041797-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R4574 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84901342-84906748 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 84904752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 167 (V167F)

Ref Sequence

ENSEMBL: ENSMUSP00000023070 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023070]

AlphaFold

Q9JKX8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023070
AA Change: V167F

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023070
Gene: ENSMUSG00000022435
AA Change: V167F

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

0.1115

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (63/65)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	A	C	5: 121,638,856 (GRCm39)	S730A	probably benign	Het
Adamts9	G	A	6: 92,856,940 (GRCm39)	R319*	probably null	Het
Anapc1	G	T	2: 128,469,115 (GRCm39)	S1575R	probably damaging	Het
Appbp2	A	T	11: 85,100,764 (GRCm39)		probably null	Het
Bcas2	C	T	3: 103,081,666 (GRCm39)	P90S	probably benign	Het
Carmil3	GGACGA	GGA	14: 55,736,933 (GRCm39)		probably benign	Het
Cd101	T	C	3: 100,920,469 (GRCm39)	N477D	probably benign	Het
Cdk12	A	G	11: 98,111,814 (GRCm39)		probably benign	Het
Clcn4	T	C	7: 7,290,804 (GRCm39)	E634G	probably benign	Het
Cltb	C	T	13: 54,746,574 (GRCm39)	R64H	probably damaging	Het
Cpt1b	G	T	15: 89,308,247 (GRCm39)		probably null	Het
Ctf2	T	G	7: 127,318,556 (GRCm39)	T148P	possibly damaging	Het
Ddx23	G	A	15: 98,545,505 (GRCm39)	T601I	probably damaging	Het
Dlx6	G	T	6: 6,865,305 (GRCm39)		probably benign	Het
Dmrtb1	A	T	4: 107,534,265 (GRCm39)	N183K	possibly damaging	Het
Dnah11	A	G	12: 117,975,990 (GRCm39)		probably null	Het
Dnah5	C	T	15: 28,367,909 (GRCm39)	P2765S	probably benign	Het
Dnah6	T	A	6: 73,063,164 (GRCm39)	N2698I	probably damaging	Het
Fpr-rs6	T	A	17: 20,403,359 (GRCm39)	M1L	probably damaging	Het
Gm4841	T	C	18: 60,402,998 (GRCm39)	N365S	probably benign	Het
Gsdmc2	C	T	15: 63,699,872 (GRCm39)		probably null	Het
Irx5	G	A	8: 93,084,890 (GRCm39)	V27I	probably damaging	Het
Kmt2e	T	A	5: 23,697,405 (GRCm39)	V101D	possibly damaging	Het
Maip1	A	C	1: 57,452,404 (GRCm39)	K219Q	possibly damaging	Het
Mpp7	G	T	18: 7,353,228 (GRCm39)	R493S	probably benign	Het
Ms4a14	T	C	19: 11,281,335 (GRCm39)	T408A	probably benign	Het
Mthfr	A	G	4: 148,127,998 (GRCm39)	N117S	possibly damaging	Het
Mtres1	T	A	10: 43,409,006 (GRCm39)	S46C	probably damaging	Het
Myo5c	A	G	9: 75,176,893 (GRCm39)	I613V	probably benign	Het
Neurl1b	A	G	17: 26,650,860 (GRCm39)	Q44R	probably benign	Het
Nup54	T	A	5: 92,573,641 (GRCm39)	N187I	probably benign	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or5ak22	C	A	2: 85,230,370 (GRCm39)	C169F	probably damaging	Het
Pate2	C	A	9: 35,596,969 (GRCm39)		probably benign	Het
Pccb	T	C	9: 100,867,252 (GRCm39)	S445G	probably damaging	Het
Pex3	G	A	10: 13,411,315 (GRCm39)	Q188*	probably null	Het
Pikfyve	T	A	1: 65,231,351 (GRCm39)	W74R	probably damaging	Het
Plcl2	T	C	17: 50,914,874 (GRCm39)	S628P	probably damaging	Het
Pnldc1	T	C	17: 13,111,669 (GRCm39)	H346R	probably benign	Het
Pom121l2	T	A	13: 22,168,572 (GRCm39)	C948S	probably benign	Het
Pspc1	A	T	14: 56,999,404 (GRCm39)	M284K	possibly damaging	Het
Ralgapa2	A	G	2: 146,277,919 (GRCm39)	L414S	probably damaging	Het
Rgs13	T	A	1: 144,016,583 (GRCm39)	K53N	probably damaging	Het
Rorc	T	C	3: 94,296,291 (GRCm39)	S163P	probably benign	Het
Rpl3l	A	C	17: 24,952,984 (GRCm39)	T315P	possibly damaging	Het
Rsph3b	A	G	17: 7,172,438 (GRCm39)	V487A	probably benign	Het
Rusc2	A	G	4: 43,416,080 (GRCm39)	E462G	probably damaging	Het
Sez6l	T	C	5: 112,576,344 (GRCm39)	T838A	probably damaging	Het
Slc22a14	A	G	9: 119,008,561 (GRCm39)	Y236H	probably damaging	Het
Sspo	G	A	6: 48,442,457 (GRCm39)	R1984H	probably damaging	Het
Steap3	G	T	1: 120,169,186 (GRCm39)	D370E	probably benign	Het
Sumf1	A	G	6: 108,085,393 (GRCm39)		probably benign	Het
Telo2	T	C	17: 25,320,647 (GRCm39)	E754G	probably damaging	Het
Tjp1	A	G	7: 64,972,353 (GRCm39)	F604L	probably damaging	Het
Trpm7	A	T	2: 126,639,131 (GRCm39)	D1734E	probably benign	Het
Tsfm	A	C	10: 126,864,242 (GRCm39)	Y158D	probably damaging	Het
Ubtf	T	C	11: 102,197,591 (GRCm39)		probably benign	Het
Vmn2r19	C	T	6: 123,292,939 (GRCm39)	S327L	probably benign	Het
Vps13c	T	A	9: 67,858,965 (GRCm39)	I2805N	probably damaging	Het
Zfp592	A	G	7: 80,673,534 (GRCm39)	D166G	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
R2924:Upk3a	UTSW	15	84,902,350 (GRCm39)	missense	probably benign	0.17
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
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'- ATGCTACCAGACTGGAAAAGGATC -3'
(R):5'- AGAGTCATCTCACCAAGCTAGC -3'

Sequencing Primer
(F):5'- ATCCAGGGTATATGTGGTCAAGTCC -3'
(R):5'- TCACCAAGCTAGCCAGGCG -3'

Posted On

2015-09-24