Mutagenetix > Incidental Mutation

Incidental Mutation 'R1298:Upk3a'

158232

Institutional Source

Beutler Lab

Gene Symbol

Upk3a

Ensembl Gene

ENSMUSG00000022435

Gene Name

uroplakin 3A

Synonyms

Upk3, 1110017C07Rik

MMRRC Submission

039364-MU

Accession Numbers

Essential gene?

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

Stock #

R1298 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84901342-84906748 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84904752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 167 (V167I)

Ref Sequence

ENSEMBL: ENSMUSP00000023070 (fasta)

Gene Model

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

AlphaFold

Q9JKX8

Predicted Effect

probably benign
Transcript: ENSMUST00000023070
AA Change: V167I

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000023070
Gene: ENSMUSG00000022435
AA Change: V167I

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

0.1141

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (38/38)

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
Alox5	A	G	6: 116,404,225 (GRCm39)	W145R	probably damaging	Het
Aspm	T	A	1: 139,385,157 (GRCm39)	V267D	probably benign	Het
Bbs4	A	T	9: 59,247,096 (GRCm39)	W135R	probably damaging	Het
Cavin4	T	C	4: 48,672,593 (GRCm39)	V346A	probably benign	Het
Cdk18	A	C	1: 132,050,189 (GRCm39)		probably benign	Het
Cyp2j11	C	T	4: 96,195,497 (GRCm39)		probably null	Het
Dnah6	A	T	6: 73,136,118 (GRCm39)	I1007K	probably damaging	Het
Dnmt1	T	C	9: 20,852,752 (GRCm39)	E118G	probably benign	Het
Eef2	C	CN	10: 81,014,602 (GRCm39)		probably null	Het
Eif1ad5	T	A	12: 87,946,853 (GRCm39)	D98E	probably benign	Het
Gm14496	T	C	2: 181,637,885 (GRCm39)	F320L	probably benign	Het
Gsdmc3	A	T	15: 63,732,130 (GRCm39)	L299M	probably damaging	Het
H6pd	T	C	4: 150,066,971 (GRCm39)	I472V	probably benign	Het
Hao2	G	T	3: 98,790,985 (GRCm39)	T63K	possibly damaging	Het
Jag2	C	T	12: 112,879,939 (GRCm39)		probably benign	Het
Mapre3	A	G	5: 31,022,211 (GRCm39)	Y211C	probably damaging	Het
Mycbp2	A	G	14: 103,393,334 (GRCm39)	S2966P	probably damaging	Het
Nsd3	T	A	8: 26,169,952 (GRCm39)	V696E	possibly damaging	Het
Obscn	A	G	11: 58,945,723 (GRCm39)	Y4163H	possibly damaging	Het
Or11h4b	A	T	14: 50,918,337 (GRCm39)	Y251*	probably null	Het
Or12e8	G	A	2: 87,188,414 (GRCm39)	A209T	probably benign	Het
Or6c3	G	T	10: 129,308,933 (GRCm39)	C124F	probably damaging	Het
Pde2a	A	G	7: 101,156,409 (GRCm39)	E607G	probably benign	Het
Pinlyp	T	A	7: 24,244,391 (GRCm39)	D51V	probably damaging	Het
Rcbtb2	T	A	14: 73,399,828 (GRCm39)	I87N	probably damaging	Het
Sfswap	A	G	5: 129,618,442 (GRCm39)	I459V	probably benign	Het
Slitrk6	T	C	14: 110,989,297 (GRCm39)	N137D	possibly damaging	Het
Smg1	A	T	7: 117,767,434 (GRCm39)		probably benign	Het
Sobp	T	A	10: 42,898,331 (GRCm39)	H418L	probably damaging	Het
Spock1	A	C	13: 57,660,563 (GRCm39)	D180E	probably benign	Het
Vmn1r180	T	C	7: 23,652,572 (GRCm39)	V245A	possibly damaging	Het
Zbtb25	T	C	12: 76,396,775 (GRCm39)	E149G	probably benign	Het
Zgrf1	T	C	3: 127,377,538 (GRCm39)	C44R	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
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
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'- TTCCCAGAGCAGATGCTACCAGAC -3'
(R):5'- AACAGTGAGCAAGTGACCTGTGAC -3'

Sequencing Primer
(F):5'- TGCTACCAGACTGGAAAAGG -3'
(R):5'- GCTGGTACTCTCAAGTCTAAGCAG -3'

Posted On

2014-02-18