Mutagenetix > Incidental Mutation

Incidental Mutation 'R4865:Upk2'

374843

Institutional Source

Beutler Lab

Gene Symbol

Upk2

Ensembl Gene

ENSMUSG00000041523

Gene Name

uroplakin 2

Synonyms

UPII, uroplakin II

MMRRC Submission

042475-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R4865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44364012-44366064 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44365382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 62 (V62A)

Ref Sequence

ENSEMBL: ENSMUSP00000040481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047740]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000047740
AA Change: V62A

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

SMART Domains

Protein: ENSMUSP00000040481
Gene: ENSMUSG00000041523
AA Change: V62A

Domain	Start	End	E-Value	Type
Pfam:Uroplakin_II	6	184	6.2e-113	PFAM

Meta Mutation Damage Score

0.3574

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

98% (86/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the proteins of the highly conserved urothelium-specific integral membrane proteins of the asymmetric unit membrane which forms urothelium apical plaques in mammals. The asymmetric unit membrane is believed to strengthen the urothelium by preventing cell rupture during bladder distention. The encoded protein is expressed in the peripheral blood of bladder cancer patients with transitional cell carcinomas.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice display abnormal urothelium that lacks umbrella cells, hydronephrosis, partial or complete ureter obstruction, increased vesicoureteral reflux, increased blood urea nitrogen levels, polyuria, and partial postnatal lethality with growth retardation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	C	T	18: 61,938,157 (GRCm39)	V639M	probably damaging	Het
Adgrf4	A	G	17: 42,978,156 (GRCm39)	S396P	probably damaging	Het
Aldh3b2	T	A	19: 4,028,469 (GRCm39)	I123N	probably damaging	Het
Aldh5a1	A	G	13: 25,095,567 (GRCm39)	Y517H	probably damaging	Het
Aph1c	A	C	9: 66,735,120 (GRCm39)	I77S	probably damaging	Het
Armc8	A	G	9: 99,408,942 (GRCm39)		probably null	Het
Atp13a5	G	A	16: 29,066,912 (GRCm39)	P1020L	probably damaging	Het
BC024139	A	T	15: 76,010,266 (GRCm39)	M80K	possibly damaging	Het
Cdk5rap1	C	T	2: 154,212,876 (GRCm39)		probably null	Het
Cenpn	A	G	8: 117,661,512 (GRCm39)	I204V	probably damaging	Het
Ces4a	A	T	8: 105,873,790 (GRCm39)	M420L	probably benign	Het
Chdh	T	A	14: 29,755,681 (GRCm39)	D322E	probably benign	Het
Clcn6	A	T	4: 148,104,223 (GRCm39)	I223N	probably damaging	Het
Clec4b1	A	G	6: 123,045,428 (GRCm39)	K50E	possibly damaging	Het
Creg1	T	A	1: 165,597,432 (GRCm39)	C135*	probably null	Het
Cyp4f13	C	T	17: 33,144,678 (GRCm39)	R411Q	probably damaging	Het
Dnah7b	T	C	1: 46,234,234 (GRCm39)	F1426L	probably damaging	Het
Dock9	A	T	14: 121,780,917 (GRCm39)	*1917R	probably null	Het
Dync1h1	T	G	12: 110,606,235 (GRCm39)	L2435R	possibly damaging	Het
Eif3l	C	A	15: 78,965,849 (GRCm39)	Y166*	probably null	Het
Emilin1	T	A	5: 31,075,128 (GRCm39)	N456K	possibly damaging	Het
Fam83f	C	T	15: 80,576,650 (GRCm39)	R434C	probably damaging	Het
Fbxw9	A	G	8: 85,786,785 (GRCm39)	D10G	possibly damaging	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fsip2	T	G	2: 82,821,295 (GRCm39)	V5676G	possibly damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm11596	A	G	11: 99,684,064 (GRCm39)		probably benign	Het
Gm6522	T	C	3: 106,183,286 (GRCm39)		noncoding transcript	Het
Gm6728	A	G	6: 136,464,072 (GRCm39)		noncoding transcript	Het
Gria4	T	A	9: 4,464,295 (GRCm39)	I556F	possibly damaging	Het
Grp	A	T	18: 66,013,041 (GRCm39)	D69V	probably damaging	Het
Gucy1a1	G	T	3: 82,026,469 (GRCm39)		probably benign	Het
Haus5	A	T	7: 30,357,980 (GRCm39)	L376Q	probably damaging	Het
Ifne	A	T	4: 88,797,942 (GRCm39)	Y159N	probably damaging	Het
Ift80	A	G	3: 68,898,092 (GRCm39)	V81A	probably benign	Het
Inpp5b	T	C	4: 124,645,288 (GRCm39)	V192A	probably benign	Het
Kcnh4	A	G	11: 100,640,569 (GRCm39)	S486P	probably damaging	Het
Kif5b	A	G	18: 6,222,912 (GRCm39)		probably benign	Het
Macf1	T	A	4: 123,327,096 (GRCm39)	E4800D	probably damaging	Het
Mblac2	C	T	13: 81,860,095 (GRCm39)	Q150*	probably null	Het
Mc1r	A	T	8: 124,134,255 (GRCm39)	T3S	probably benign	Het
Med17	G	A	9: 15,176,668 (GRCm39)	Q70*	probably null	Het
Myocd	A	T	11: 65,069,856 (GRCm39)		probably null	Het
Nphp3	T	C	9: 103,909,169 (GRCm39)	L793P	probably benign	Het
Or1ad1	A	G	11: 50,876,370 (GRCm39)	T281A	probably damaging	Het
Or2m13	A	T	16: 19,226,051 (GRCm39)	F238L	probably damaging	Het
Or4a68	T	G	2: 89,270,003 (GRCm39)	T207P	possibly damaging	Het
Or5an10	T	C	19: 12,275,944 (GRCm39)	D184G	probably damaging	Het
Or5ap2	T	A	2: 85,680,060 (GRCm39)	M88K	probably damaging	Het
Or8c13	T	A	9: 38,091,196 (GRCm39)	T308S	possibly damaging	Het
Piezo1	A	T	8: 123,213,660 (GRCm39)	L1745Q	probably damaging	Het
Prdm10	T	A	9: 31,258,376 (GRCm39)	H600Q	probably damaging	Het
Psapl1	C	A	5: 36,362,211 (GRCm39)	L268M	probably damaging	Het
Psg23	T	C	7: 18,346,039 (GRCm39)	I219V	probably benign	Het
Rexo5	A	T	7: 119,400,553 (GRCm39)	R113*	probably null	Het
Rgs22	A	T	15: 36,100,358 (GRCm39)	I243N	probably damaging	Het
Rhbdf1	G	A	11: 32,164,517 (GRCm39)	T183I	probably damaging	Het
Rhobtb1	T	C	10: 69,106,554 (GRCm39)	M373T	probably benign	Het
Ros1	G	T	10: 52,048,966 (GRCm39)	A88E	probably damaging	Het
Sdr16c6	A	G	4: 4,058,834 (GRCm39)	F251L	probably benign	Het
Skil	A	G	3: 31,167,562 (GRCm39)	Y398C	probably damaging	Het
Slc22a3	A	T	17: 12,683,419 (GRCm39)	M148K	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Sntn	A	T	14: 13,679,103 (GRCm38)	K92N	probably benign	Het
Spry4	A	T	18: 38,722,876 (GRCm39)	S296T	probably benign	Het
St8sia1	A	G	6: 142,774,796 (GRCm39)	F261S	probably damaging	Het
Stab2	C	T	10: 86,679,364 (GRCm39)		probably null	Het
Stk24	A	T	14: 121,530,866 (GRCm39)	C363*	probably null	Het
Tank	G	A	2: 61,408,979 (GRCm39)		probably benign	Het
Tmem67	T	C	4: 12,070,262 (GRCm39)	N387S	probably benign	Het
Treml1	A	T	17: 48,673,885 (GRCm39)	I304L	probably benign	Het
Trim13	A	G	14: 61,842,966 (GRCm39)	I328V	probably benign	Het
Urb2	A	T	8: 124,756,374 (GRCm39)	K694*	probably null	Het
Vmn2r17	C	A	5: 109,574,985 (GRCm39)	N97K	probably damaging	Het
Vmn2r57	A	T	7: 41,049,892 (GRCm39)	V619D	probably damaging	Het
Vmn2r92	G	A	17: 18,387,634 (GRCm39)	R213Q	probably benign	Het
Wnt6	G	A	1: 74,821,788 (GRCm39)	C123Y	probably damaging	Het
Zfp292	A	G	4: 34,819,563 (GRCm39)	I253T	probably damaging	Het
Zfp52	C	T	17: 21,781,505 (GRCm39)	S451L	probably damaging	Het

Other mutations in Upk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02629:Upk2	APN	9	44,365,436 (GRCm39)	missense	probably damaging	1.00
R0518:Upk2	UTSW	9	44,365,418 (GRCm39)	missense	probably damaging	1.00
R0521:Upk2	UTSW	9	44,365,418 (GRCm39)	missense	probably damaging	1.00
R1116:Upk2	UTSW	9	44,365,086 (GRCm39)	splice site	probably null
R1178:Upk2	UTSW	9	44,365,470 (GRCm39)	missense	probably benign	0.13
R6520:Upk2	UTSW	9	44,364,803 (GRCm39)	missense	probably damaging	1.00
R7659:Upk2	UTSW	9	44,364,808 (GRCm39)	missense	probably damaging	1.00
X0065:Upk2	UTSW	9	44,365,978 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTGTCACCTGATATGCGCTG -3'
(R):5'- CGCCAGCTCTGAGTTAAGAG -3'

Sequencing Primer
(F):5'- CTTGTGACGGTGTAGCCAGAC -3'
(R):5'- CTCTGAGTTAAGAGGGGGCTAACTC -3'

Posted On

2016-03-17