Mutagenetix > Incidental Mutation

Incidental Mutation 'R9578:Upk3b'

722404

Institutional Source

Beutler Lab

Gene Symbol

Upk3b

Ensembl Gene

ENSMUSG00000042985

Gene Name

uroplakin 3B

Synonyms

PMS2L14, UpIIIb, P35

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9578 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

136067350-136073847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136067736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 27 (S27R)

Ref Sequence

ENSEMBL: ENSMUSP00000062312 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000062606
AA Change: S27R

SMART Domains

Protein: ENSMUSP00000062312
Gene: ENSMUSG00000042985
AA Change: S27R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	G	A	8: 106,436,505 (GRCm39)	G234S	probably damaging	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Aldh8a1	A	G	10: 21,253,281 (GRCm39)	I14M	probably damaging	Het
Arhgap11a	A	G	2: 113,670,125 (GRCm39)	S333P	possibly damaging	Het
Atp1b3	A	T	9: 96,220,754 (GRCm39)	D180E	probably benign	Het
B3gnt8	T	C	7: 25,328,089 (GRCm39)	L173P	probably damaging	Het
Cabin1	A	G	10: 75,590,185 (GRCm39)	F37S	probably damaging	Het
Carmil3	G	T	14: 55,741,293 (GRCm39)		probably null	Het
Cfi	G	T	3: 129,659,024 (GRCm39)	M327I	probably benign	Het
Cltc	G	A	11: 86,593,237 (GRCm39)	S1542F	probably benign	Het
Col7a1	G	A	9: 108,789,350 (GRCm39)	G854D	unknown	Het
Cux1	A	T	5: 136,282,919 (GRCm39)		probably null	Het
Dcdc2c	G	T	12: 28,602,234 (GRCm39)	N23K	probably damaging	Het
Dclre1a	A	G	19: 56,528,734 (GRCm39)	I807T	probably damaging	Het
Dnah14	T	C	1: 181,502,007 (GRCm39)	F1770L	probably benign	Het
Dnajc13	A	G	9: 104,115,726 (GRCm39)	F28L	probably benign	Het
Dtna	A	G	18: 23,728,612 (GRCm39)	D269G	probably damaging	Het
Dusp4	G	T	8: 35,274,822 (GRCm39)		probably benign	Het
Ece1	T	C	4: 137,641,133 (GRCm39)	S19P	probably benign	Het
Gas1	T	C	13: 60,323,905 (GRCm39)	D243G	possibly damaging	Het
Ggnbp2	A	G	11: 84,744,989 (GRCm39)	C178R	probably benign	Het
Gm12185	T	A	11: 48,806,408 (GRCm39)	N261I	probably benign	Het
Grm4	A	T	17: 27,669,183 (GRCm39)	F362I	possibly damaging	Het
Icos	T	A	1: 61,032,871 (GRCm39)	N23K	probably benign	Het
Kcnk2	CAAA	CAA	1: 188,988,891 (GRCm39)		probably null	Het
Krt5	T	C	15: 101,620,153 (GRCm39)	K188R	probably damaging	Het
Mindy3	C	T	2: 12,361,715 (GRCm39)		probably null	Het
Ncdn	C	T	4: 126,645,795 (GRCm39)	R38H	probably damaging	Het
Nol9	A	G	4: 152,125,706 (GRCm39)	K219R	probably benign	Het
Opalin	A	T	19: 41,060,668 (GRCm39)	S2R	probably damaging	Het
Or8g35	A	T	9: 39,381,201 (GRCm39)	S274T	probably damaging	Het
Pask	G	A	1: 93,263,390 (GRCm39)	S122L	probably benign	Het
Pcdha11	T	C	18: 37,140,176 (GRCm39)	S602P	probably damaging	Het
Pclo	A	G	5: 14,816,753 (GRCm39)	K1271R		Het
Piezo1	T	C	8: 123,224,214 (GRCm39)	H763R		Het
Pigr	A	G	1: 130,777,350 (GRCm39)	K719E	probably benign	Het
Piwil4	A	T	9: 14,638,790 (GRCm39)	V245E	probably damaging	Het
Plcb4	A	G	2: 135,829,444 (GRCm39)	M925V	probably benign	Het
Pomt1	G	A	2: 32,133,543 (GRCm39)		probably null	Het
Pou2f2	C	A	7: 24,796,569 (GRCm39)	A302S	probably benign	Het
Rapgef4	A	T	2: 72,026,052 (GRCm39)	H359L	probably damaging	Het
Rfesd	C	T	13: 76,156,299 (GRCm39)	V36I	possibly damaging	Het
Rims1	G	A	1: 22,523,823 (GRCm39)	T421M	probably damaging	Het
Serpinf2	T	A	11: 75,327,615 (GRCm39)	H150L	probably benign	Het
Syt10	A	T	15: 89,675,122 (GRCm39)	M408K	possibly damaging	Het
Tcea1	T	A	1: 4,961,021 (GRCm39)		probably null	Het
Tia1	T	C	6: 86,407,347 (GRCm39)	*387R	probably null	Het
Top3a	A	C	11: 60,647,517 (GRCm39)	V186G	probably damaging	Het
Usp18	A	G	6: 121,239,726 (GRCm39)	S274G	probably benign	Het
Vmn1r230	C	A	17: 21,067,163 (GRCm39)	C117*	probably null	Het
Vmn1r72	T	C	7: 11,404,347 (GRCm39)	I34V	probably benign	Het
Vmn2r74	T	C	7: 85,606,101 (GRCm39)	D415G	probably benign	Het
Zfp54	A	G	17: 21,655,186 (GRCm39)	Y560C	probably damaging	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
R6878:Upk3b	UTSW	5	136,068,001 (GRCm39)	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- AAGTGACCAGCAACTGTAGG -3'
(R):5'- GTAGTGGCTGTGATCTTCCC -3'

Sequencing Primer
(F):5'- CAACTGTAGGCCAGAGGTGTC -3'
(R):5'- CAGGTCCCAGGCTGTTATCTG -3'

Posted On

2022-08-09