Mutagenetix > Incidental Mutation

Incidental Mutation 'R6878:Upk3b'

536507

Institutional Source

Beutler Lab

Gene Symbol

Upk3b

Ensembl Gene

ENSMUSG00000042985

Gene Name

uroplakin 3B

Synonyms

PMS2L14, UpIIIb, P35

MMRRC Submission

044974-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6878 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136067350-136073847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136068001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 64 (V64A)

Ref Sequence

ENSEMBL: ENSMUSP00000062312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062606]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000062606
AA Change: V64A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000062312
Gene: ENSMUSG00000042985
AA Change: V64A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

98% (44/45)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal heart, urinary bladder and upper urogenital system development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,581,613 (GRCm39)	N4810K	probably benign	Het
Arhgap26	A	T	18: 39,360,465 (GRCm39)	I397F	probably damaging	Het
Arhgap35	A	G	7: 16,299,038 (GRCm39)	V9A	probably benign	Het
Asl	A	G	5: 130,053,133 (GRCm39)		probably null	Het
Atg2a	T	A	19: 6,300,208 (GRCm39)	L672Q	probably damaging	Het
B4galt1	T	C	4: 40,809,694 (GRCm39)	D316G	probably damaging	Het
Bpifb2	A	G	2: 153,717,832 (GRCm39)		probably benign	Het
Ccl1	T	C	11: 82,070,519 (GRCm39)	I18V	probably benign	Het
Cd47	A	G	16: 49,731,232 (GRCm39)	E278G	possibly damaging	Het
Cilp	G	A	9: 65,187,129 (GRCm39)	G1075S	probably damaging	Het
Eml2	T	C	7: 18,934,537 (GRCm39)	V604A	probably benign	Het
Fancm	A	T	12: 65,163,197 (GRCm39)	R1454*	probably null	Het
Gm4302	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	10: 100,177,361 (GRCm39)		probably benign	Het
Gm4302	GCA	GCACCA	10: 100,177,377 (GRCm39)		probably benign	Het
Gm4302	CAG	CAGAAG	10: 100,177,369 (GRCm39)		probably benign	Het
Hif1a	T	C	12: 73,975,055 (GRCm39)	M147T	possibly damaging	Het
Hps5	C	G	7: 46,433,058 (GRCm39)	A221P	probably damaging	Het
Lrrc49	A	G	9: 60,587,431 (GRCm39)	S67P	probably damaging	Het
Madd	T	A	2: 91,000,202 (GRCm39)	N568I	probably damaging	Het
Meikin	T	C	11: 54,302,712 (GRCm39)	S375P	possibly damaging	Het
Mfsd6	G	T	1: 52,747,912 (GRCm39)	Q318K	probably damaging	Het
Mis18a	A	T	16: 90,518,644 (GRCm39)	I106N	probably damaging	Het
Myl2	T	C	5: 122,243,140 (GRCm39)	I148T	probably benign	Het
Myrf	T	C	19: 10,193,842 (GRCm39)	Q730R	possibly damaging	Het
Nf1	T	C	11: 79,325,708 (GRCm39)	L560P	probably damaging	Het
Npat	A	G	9: 53,467,899 (GRCm39)	T285A	probably benign	Het
Ntrk3	T	A	7: 77,954,120 (GRCm39)	D547V	probably benign	Het
Obox2	G	T	7: 15,131,245 (GRCm39)	S117I	probably benign	Het
Or8k32	A	G	2: 86,369,109 (GRCm39)	L48P	probably damaging	Het
Parva	T	A	7: 112,175,656 (GRCm39)	N226K	possibly damaging	Het
Pcdha3	T	A	18: 37,080,416 (GRCm39)	L386*	probably null	Het
Ppip5k1	A	G	2: 121,142,417 (GRCm39)	F1323S	probably benign	Het
Prkdc	T	C	16: 15,594,936 (GRCm39)	V2771A	probably benign	Het
Prl7c1	T	C	13: 27,962,827 (GRCm39)	T59A	possibly damaging	Het
Rab15	T	C	12: 76,851,257 (GRCm39)	T20A	probably benign	Het
Rp1l1	A	G	14: 64,269,301 (GRCm39)	E1629G	probably benign	Het
Rpap1	A	T	2: 119,608,657 (GRCm39)	L235Q	probably damaging	Het
Sema3a	A	T	5: 13,505,511 (GRCm39)	I91F	possibly damaging	Het
Snx6	T	C	12: 54,810,386 (GRCm39)		probably null	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Speer4f2	T	G	5: 17,580,765 (GRCm39)	M114R	probably damaging	Het
Syne1	T	C	10: 5,370,388 (GRCm39)	D264G	possibly damaging	Het
Tbl1xr1	T	G	3: 22,257,368 (GRCm39)	N410K	possibly damaging	Het
Tmed7	A	T	18: 46,726,532 (GRCm39)	D74E	probably damaging	Het
Vmn2r29	A	G	7: 7,244,863 (GRCm39)	V337A	probably benign	Het
Yy1	C	G	12: 108,780,682 (GRCm39)	P352A	probably damaging	Het
Zfp1005	C	T	2: 150,108,406 (GRCm39)	L56F	possibly damaging	Het
Zfp873	T	C	10: 81,896,529 (GRCm39)	I457T	probably benign	Het

Other mutations in Upk3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01417:Upk3b	APN	5	136,067,920 (GRCm39)	missense	possibly damaging	0.93
IGL02928:Upk3b	APN	5	136,067,995 (GRCm39)	missense	probably benign	0.00
PIT4468001:Upk3b	UTSW	5	136,071,861 (GRCm39)	missense	probably benign	0.04
R0634:Upk3b	UTSW	5	136,068,930 (GRCm39)	missense	possibly damaging	0.61
R5538:Upk3b	UTSW	5	136,072,890 (GRCm39)	missense	probably benign	0.28
R7828:Upk3b	UTSW	5	136,068,993 (GRCm39)	missense	possibly damaging	0.93
R7875:Upk3b	UTSW	5	136,069,057 (GRCm39)	missense	probably benign	0.02
R8182:Upk3b	UTSW	5	136,067,982 (GRCm39)	missense	probably damaging	1.00
R9578:Upk3b	UTSW	5	136,067,736 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCAAACCTAGGGTTCTGGGAAC -3'
(R):5'- GCTAATCTAATCTACAGTCCTGACCC -3'

Sequencing Primer
(F):5'- TATTACACCTCCTGGACCGAGAG -3'
(R):5'- TAATCTACAGTCCTGACCCTCACAC -3'

Posted On

2018-10-18