Mutagenetix > Incidental Mutation

Incidental Mutation 'R7901:Uts2r'

610002

Institutional Source

Beutler Lab

Gene Symbol

Uts2r

Ensembl Gene

ENSMUSG00000039321

Gene Name

urotensin 2 receptor

Synonyms

urotensin II receptor, Gpr14, UTR2

MMRRC Submission

045953-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R7901 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121051097-121052799 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121052234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 366 (S366N)

Ref Sequence

ENSEMBL: ENSMUSP00000046920 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039044]

AlphaFold

Q8VIH9

Predicted Effect

probably benign
Transcript: ENSMUST00000039044
AA Change: S366N

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000046920
Gene: ENSMUSG00000039321
AA Change: S366N

Domain	Start	End	E-Value	Type
Pfam:7tm_1	67	316	7.4e-45	PFAM

Meta Mutation Damage Score

0.0577

Coding Region Coverage

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

Validation Efficiency

98% (56/57)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele display a selective loss of urotensin-II contractile activity in isolated aortae. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,119,434 (GRCm39)		probably null	Het
Adpgk	T	C	9: 59,222,300 (GRCm39)	V409A	probably benign	Het
Agfg2	A	T	5: 137,665,966 (GRCm39)	F98I	probably damaging	Het
Arhgap17	A	T	7: 122,885,791 (GRCm39)		probably benign	Het
Asb8	T	C	15: 98,040,614 (GRCm39)	Y16C	probably damaging	Het
Atp6v0a2	C	T	5: 124,779,485 (GRCm39)	T200I	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccnt1	A	T	15: 98,441,797 (GRCm39)	D490E	probably benign	Het
Cenpf	G	T	1: 189,389,445 (GRCm39)	D1462E	probably damaging	Het
Clcn6	C	T	4: 148,095,202 (GRCm39)	R736H	probably damaging	Het
Col4a2	A	T	8: 11,479,358 (GRCm39)	D747V	probably benign	Het
Cplane1	A	G	15: 8,299,190 (GRCm39)	E3126G	unknown	Het
Crybg3	T	C	16: 59,377,907 (GRCm39)	T1116A	probably damaging	Het
Csf1r	T	A	18: 61,243,368 (GRCm39)	L128Q	probably damaging	Het
Ddx17	A	T	15: 79,422,789 (GRCm39)	D316E	probably damaging	Het
Ect2l	T	A	10: 18,017,712 (GRCm39)	D681V	possibly damaging	Het
Ell2	A	T	13: 75,912,105 (GRCm39)	K464*	probably null	Het
Eme1	G	T	11: 94,541,645 (GRCm39)	P59Q	probably damaging	Het
Etl4	T	C	2: 20,294,821 (GRCm39)	S2P	possibly damaging	Het
Fndc9	T	C	11: 46,128,576 (GRCm39)	Y32H	probably damaging	Het
Frem1	G	T	4: 82,877,614 (GRCm39)	T1321K	probably benign	Het
Gabrg2	A	G	11: 41,867,418 (GRCm39)	V67A	probably benign	Het
Gm4553	ACAGCAGCTGGACTGACAGCAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG	ACAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG	7: 141,718,602 (GRCm39)		probably benign	Het
Gm5145	A	C	17: 20,790,900 (GRCm39)	I93L	possibly damaging	Het
Gpld1	T	A	13: 25,146,758 (GRCm39)	V240E	probably damaging	Het
Gsc	T	A	12: 104,439,131 (GRCm39)	S82C	possibly damaging	Het
H2-T10	C	T	17: 36,431,143 (GRCm39)	E173K	probably benign	Het
Ifi213	A	T	1: 173,394,784 (GRCm39)	S584T	probably benign	Het
Klk1b1	T	C	7: 43,620,669 (GRCm39)	I253T	probably damaging	Het
Klra4	A	G	6: 130,040,113 (GRCm39)	L53P	probably damaging	Het
Lct	A	G	1: 128,216,722 (GRCm39)	Y1697H	probably benign	Het
Mrs2	T	A	13: 25,202,549 (GRCm39)	D64V	possibly damaging	Het
Muc13	A	G	16: 33,636,211 (GRCm39)	Q565R	probably damaging	Het
Nlrp6	T	C	7: 140,507,353 (GRCm39)	V873A	possibly damaging	Het
Nup155	C	T	15: 8,145,926 (GRCm39)	P159L	possibly damaging	Het
Or10v1	A	T	19: 11,873,898 (GRCm39)	H171L	probably benign	Het
Or4m1	A	T	14: 50,557,573 (GRCm39)	S240T	probably damaging	Het
Or51a6	T	C	7: 102,604,887 (GRCm39)		probably null	Het
Phip	T	G	9: 82,772,203 (GRCm39)	M1115L	probably benign	Het
Ppip5k1	T	C	2: 121,142,390 (GRCm39)	Q1353R	probably damaging	Het
Ptprb	C	G	10: 116,205,333 (GRCm39)	P1896A	probably benign	Het
Rgl2	T	C	17: 34,154,799 (GRCm39)	L601P	possibly damaging	Het
Sash1	C	T	10: 8,656,328 (GRCm39)	W221*	probably null	Het
Skint1	A	C	4: 111,876,399 (GRCm39)	T107P	probably damaging	Het
Slc45a4	G	A	15: 73,477,621 (GRCm39)		probably benign	Het
Snx13	T	A	12: 35,150,624 (GRCm39)	D309E	probably benign	Het
Spcs1	A	G	14: 30,722,628 (GRCm39)	Y64H	probably benign	Het
Tep1	A	T	14: 51,064,308 (GRCm39)	Y2434N	possibly damaging	Het
Tnpo3	T	C	6: 29,568,990 (GRCm39)	E454G	possibly damaging	Het
Tsg101	G	T	7: 46,563,183 (GRCm39)	Q24K	probably benign	Het
Ttc6	C	T	12: 57,735,353 (GRCm39)	R1132W	probably damaging	Het
Unkl	T	C	17: 25,437,627 (GRCm39)	S200P	probably damaging	Het
Wbp4	A	T	14: 79,709,845 (GRCm39)	V130E	probably damaging	Het
Zfp592	T	G	7: 80,674,469 (GRCm39)	S478A	probably benign	Het
Zfp664	A	T	5: 124,962,839 (GRCm39)	K78*	probably null	Het
Zfp738	A	T	13: 67,821,110 (GRCm39)	L79*	probably null	Het
Zfyve28	C	T	5: 34,382,326 (GRCm39)	R258Q	probably damaging	Het

Other mutations in Uts2r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Uts2r	APN	11	121,051,172 (GRCm39)	missense	probably benign	0.00
IGL02066:Uts2r	APN	11	121,051,523 (GRCm39)	missense	probably damaging	1.00
IGL02483:Uts2r	APN	11	121,051,213 (GRCm39)	missense	possibly damaging	0.49
R0144:Uts2r	UTSW	11	121,052,291 (GRCm39)	missense	probably benign	0.02
R1625:Uts2r	UTSW	11	121,052,033 (GRCm39)	missense	probably damaging	1.00
R1765:Uts2r	UTSW	11	121,052,095 (GRCm39)	missense	possibly damaging	0.76
R4780:Uts2r	UTSW	11	121,051,705 (GRCm39)	missense	possibly damaging	0.85
R5893:Uts2r	UTSW	11	121,052,105 (GRCm39)	missense	probably benign	0.20
R6766:Uts2r	UTSW	11	121,052,033 (GRCm39)	missense	probably damaging	1.00
R6966:Uts2r	UTSW	11	121,052,213 (GRCm39)	missense	possibly damaging	0.92
R7185:Uts2r	UTSW	11	121,051,706 (GRCm39)	missense	probably benign	0.13
R7329:Uts2r	UTSW	11	121,051,558 (GRCm39)	missense	possibly damaging	0.95
R7594:Uts2r	UTSW	11	121,052,191 (GRCm39)	missense	possibly damaging	0.78
R7777:Uts2r	UTSW	11	121,052,279 (GRCm39)	missense	probably benign
R7999:Uts2r	UTSW	11	121,051,495 (GRCm39)	missense	possibly damaging	0.83
R8358:Uts2r	UTSW	11	121,051,345 (GRCm39)	missense	probably damaging	1.00
R8937:Uts2r	UTSW	11	121,051,795 (GRCm39)	missense	possibly damaging	0.64
R9797:Uts2r	UTSW	11	121,051,518 (GRCm39)	missense	probably damaging	1.00
Z1176:Uts2r	UTSW	11	121,051,874 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACAGCTGCATCAATCCCTTC -3'
(R):5'- TGGCATCATAGGAAAGGCTC -3'

Sequencing Primer
(F):5'- CCTCTACACTCTGCTCACCAAG -3'
(R):5'- CTCTGATAGAGCTGATGAGAACAAC -3'

Posted On

2019-12-20