Mutagenetix > Incidental Mutation

Incidental Mutation 'R5893:Upk3a'

457331

Institutional Source

Beutler Lab

Gene Symbol

Upk3a

Ensembl Gene

ENSMUSG00000022435

Gene Name

uroplakin 3A

Synonyms

Upk3, 1110017C07Rik

MMRRC Submission

044094-MU

Accession Numbers

Essential gene?

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

Stock #

R5893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84901342-84906748 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 84903538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 79 (D79A)

Ref Sequence

ENSEMBL: ENSMUSP00000023070 (fasta)

Gene Model

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

AlphaFold

Q9JKX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000023070
AA Change: D79A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023070
Gene: ENSMUSG00000022435
AA Change: D79A

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

0.0858

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

95% (73/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	C	T	4: 144,429,766 (GRCm39)	V408I	probably benign	Het
Ablim1	T	A	19: 57,204,285 (GRCm39)	R35S	probably benign	Het
Acacb	A	T	5: 114,367,912 (GRCm39)	I1637F	probably benign	Het
Adamts18	A	T	8: 114,499,709 (GRCm39)	C402S	probably damaging	Het
Adra2b	T	A	2: 127,206,402 (GRCm39)	D306E	probably benign	Het
Ammecr1l	C	T	18: 31,911,973 (GRCm39)	T263I	probably damaging	Het
Antxr1	T	C	6: 87,114,241 (GRCm39)	I509V	probably benign	Het
Bahcc1	A	G	11: 120,176,256 (GRCm39)	E1967G	probably damaging	Het
Brap	T	A	5: 121,817,405 (GRCm39)	Y337*	probably null	Het
Brca2	T	C	5: 150,492,603 (GRCm39)	V3206A	probably benign	Het
Cacna1e	A	T	1: 154,313,069 (GRCm39)	F1486I	probably damaging	Het
Cbx4	A	G	11: 118,973,016 (GRCm39)	Y120H	probably damaging	Het
Ccar2	T	A	14: 70,388,800 (GRCm39)	Q137L	probably benign	Het
Ceacam12	A	G	7: 17,803,299 (GRCm39)	D235G	probably damaging	Het
Celsr1	A	G	15: 85,788,215 (GRCm39)	V2679A	probably benign	Het
Champ1	C	T	8: 13,928,777 (GRCm39)	P312S	probably benign	Het
Chst5	A	G	8: 112,616,828 (GRCm39)	L264S	probably damaging	Het
Cip2a	A	G	16: 48,817,863 (GRCm39)	S78G	probably benign	Het
Colec10	T	A	15: 54,274,185 (GRCm39)	F4L	probably benign	Het
Cyp2a4	G	A	7: 26,008,353 (GRCm39)	G165D	probably damaging	Het
Cyp2c29	G	C	19: 39,318,833 (GRCm39)	A438P	possibly damaging	Het
Dlat	A	G	9: 50,555,439 (GRCm39)		probably benign	Het
Dmxl2	A	G	9: 54,294,704 (GRCm39)	V2457A	possibly damaging	Het
Dnah7a	A	G	1: 53,496,944 (GRCm39)	M3104T	possibly damaging	Het
Dock8	C	T	19: 25,099,811 (GRCm39)	H645Y	probably damaging	Het
Ehbp1l1	T	C	19: 5,768,459 (GRCm39)	E948G	probably benign	Het
Eps8l2	C	T	7: 140,937,537 (GRCm39)	R384C	probably damaging	Het
Fam174a	A	T	1: 95,252,884 (GRCm39)	N162I	probably damaging	Het
Fbp2	T	A	13: 62,984,916 (GRCm39)	N335I	probably benign	Het
Foxred2	C	A	15: 77,831,344 (GRCm39)	G490C	probably damaging	Het
Fyttd1	T	G	16: 32,719,283 (GRCm39)	D200E	probably damaging	Het
Gdf15	A	T	8: 71,082,473 (GRCm39)	V211E	possibly damaging	Het
Gm6214	A	G	3: 140,545,107 (GRCm39)		noncoding transcript	Het
Havcr2	A	G	11: 46,347,143 (GRCm39)	Y40C	probably damaging	Het
Htra1	T	G	7: 130,563,321 (GRCm39)	V184G	probably damaging	Het
Hydin	A	T	8: 111,217,308 (GRCm39)	I1399F	probably benign	Het
Igtp	T	C	11: 58,097,474 (GRCm39)	L215P	probably damaging	Het
Kctd1	T	C	18: 15,102,745 (GRCm39)	E812G	possibly damaging	Het
Lap3	T	C	5: 45,668,621 (GRCm39)		probably benign	Het
Lgalsl2	A	T	7: 5,362,623 (GRCm39)	T85S	probably benign	Het
Lrp1b	C	A	2: 40,491,599 (GRCm39)	A223S	probably damaging	Het
Mtnr1b	A	T	9: 15,774,540 (GRCm39)	V173E	probably damaging	Het
Nat10	A	C	2: 103,552,184 (GRCm39)		probably benign	Het
Ndfip2	T	A	14: 105,532,291 (GRCm39)	V229E	probably damaging	Het
Nefh	G	A	11: 4,891,323 (GRCm39)	T432M	probably damaging	Het
Nfe2l3	A	G	6: 51,434,832 (GRCm39)	Y464C	probably damaging	Het
Nrip1	C	A	16: 76,090,841 (GRCm39)	A239S	probably damaging	Het
Olfml2b	A	G	1: 170,490,042 (GRCm39)	S221G	probably benign	Het
Orc4	G	T	2: 48,795,559 (GRCm39)	S389*	probably null	Het
P4hb	A	G	11: 120,462,476 (GRCm39)	S77P	probably damaging	Het
Pcyt2	T	C	11: 120,508,623 (GRCm39)		probably null	Het
Plagl1	T	C	10: 13,003,938 (GRCm39)		probably benign	Het
Poglut1	C	T	16: 38,349,957 (GRCm39)	R272Q	probably damaging	Het
Pramel26	T	A	4: 143,537,038 (GRCm39)	Y431F	probably damaging	Het
Rdh5	T	C	10: 128,750,090 (GRCm39)		probably null	Het
Rogdi	A	T	16: 4,831,258 (GRCm39)	L3*	probably null	Het
Skap1	T	C	11: 96,472,224 (GRCm39)	*166Q	probably null	Het
Slc38a4	A	G	15: 96,897,432 (GRCm39)	I461T	probably benign	Het
Snx31	A	C	15: 36,523,601 (GRCm39)	I360M	probably damaging	Het
Spata22	A	T	11: 73,227,073 (GRCm39)	K96*	probably null	Het
Strn3	A	T	12: 51,690,006 (GRCm39)		probably null	Het
Trip12	A	C	1: 84,736,884 (GRCm39)		probably benign	Het
Uggt1	A	T	1: 36,266,709 (GRCm39)		probably null	Het
Uts2r	A	T	11: 121,052,105 (GRCm39)	Y323F	probably benign	Het
Vmn2r1	A	T	3: 63,993,974 (GRCm39)	N107Y	probably damaging	Het
Vps13c	A	T	9: 67,810,121 (GRCm39)		probably null	Het
Wnt7b	A	G	15: 85,465,575 (GRCm39)		probably benign	Het
Zfp410	T	A	12: 84,384,385 (GRCm39)		probably null	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
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
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'- GAGACATGGATCCAGTACCTCAC -3'
(R):5'- TTGTTGCCCACCCTGACTAG -3'

Sequencing Primer
(F):5'- ATGGATCCAGTACCTCACAGTGG -3'
(R):5'- ACCCTGACTAGGTATGCGTTCAG -3'

Posted On

2017-02-15