Mutagenetix > Incidental Mutation

Incidental Mutation 'R7777:Uts2r'

598966

Institutional Source

Beutler Lab

Gene Symbol

Uts2r

Ensembl Gene

ENSMUSG00000039321

Gene Name

urotensin 2 receptor

Synonyms

urotensin II receptor, Gpr14, UTR2

MMRRC Submission

045833-MU

Accession Numbers

Essential gene?

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

Stock #

R7777 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121051097-121052799 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121052279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 381 (N381S)

Ref Sequence

ENSEMBL: ENSMUSP00000046920 (fasta)

Gene Model

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

AlphaFold

Q8VIH9

Predicted Effect

probably benign
Transcript: ENSMUST00000039044
AA Change: N381S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046920
Gene: ENSMUSG00000039321
AA Change: N381S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (47/47)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	C	T	12: 113,453,758 (GRCm39)	P192S	possibly damaging	Het
Arhgef10	A	G	8: 14,995,373 (GRCm39)	T353A	probably damaging	Het
Cabyr	A	G	18: 12,877,828 (GRCm39)	D55G	probably damaging	Het
Dcaf4	T	C	12: 83,584,733 (GRCm39)	V322A	probably damaging	Het
Ephb2	T	A	4: 136,498,947 (GRCm39)	E44V	possibly damaging	Het
Fam3c	T	C	6: 22,328,573 (GRCm39)	I105V	probably benign	Het
Fras1	A	G	5: 96,900,763 (GRCm39)	D2994G	probably damaging	Het
Fryl	C	T	5: 73,228,641 (GRCm39)	D1697N	probably damaging	Het
Gapdh	A	T	6: 125,139,911 (GRCm39)	Y164*	probably null	Het
Gm4353	T	G	7: 115,682,998 (GRCm39)	Q194H	possibly damaging	Het
Ilvbl	T	A	10: 78,413,085 (GRCm39)		probably null	Het
Ism2	T	A	12: 87,333,658 (GRCm39)		probably null	Het
Jak2	C	T	19: 29,254,268 (GRCm39)	T196I	probably benign	Het
Lcor	T	G	19: 41,547,234 (GRCm39)	Y273D	probably benign	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Lysmd4	T	A	7: 66,873,446 (GRCm39)	M27K	possibly damaging	Het
Muc17	G	A	5: 137,175,564 (GRCm39)		silent	Het
Or11h4b	A	T	14: 50,918,261 (GRCm39)	Y277N	probably damaging	Het
Or13a25	T	A	7: 140,247,854 (GRCm39)	I211N	probably benign	Het
Or5m10	A	G	2: 85,717,951 (GRCm39)	E269G	possibly damaging	Het
Oscp1	T	C	4: 125,958,774 (GRCm39)		probably null	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Pkd2l2	C	A	18: 34,549,913 (GRCm39)	P186Q	probably damaging	Het
Plcb1	G	A	2: 135,062,677 (GRCm39)	G96R	possibly damaging	Het
Plcd3	G	C	11: 102,965,481 (GRCm39)	R535G	probably benign	Het
Plcg1	A	G	2: 160,596,523 (GRCm39)	M681V	possibly damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Polrmt	A	T	10: 79,575,022 (GRCm39)	D836E	probably benign	Het
Pramel12	T	C	4: 143,144,331 (GRCm39)	Y226H	possibly damaging	Het
Prkag1	A	T	15: 98,712,478 (GRCm39)	I149N	probably damaging	Het
Prkci	A	T	3: 31,104,362 (GRCm39)	Q575L	possibly damaging	Het
Prss40	C	T	1: 34,591,846 (GRCm39)	W276*	probably null	Het
Ptprn	T	C	1: 75,228,946 (GRCm39)	D823G	possibly damaging	Het
Radil	A	C	5: 142,529,303 (GRCm39)	F131C	probably damaging	Het
Rif1	A	G	2: 52,006,368 (GRCm39)	I550V	probably benign	Het
Rmnd1	T	C	10: 4,361,713 (GRCm39)	E320G	probably damaging	Het
Sec31b	T	A	19: 44,512,212 (GRCm39)	K561*	probably null	Het
Spata31g1	C	T	4: 42,970,171 (GRCm39)	Q53*	probably null	Het
Spata31g1	T	C	4: 42,971,095 (GRCm39)	S143P	probably benign	Het
Tbx5	A	C	5: 120,021,232 (GRCm39)	T413P	probably benign	Het
Tmprss7	A	G	16: 45,480,963 (GRCm39)		probably null	Het
Tnfaip8l2	T	C	3: 95,047,307 (GRCm39)	*185W	probably null	Het
Tpst2	A	G	5: 112,457,560 (GRCm39)	E296G	possibly damaging	Het
Ubn2	T	A	6: 38,467,688 (GRCm39)	S801T	probably damaging	Het
Usp34	A	G	11: 23,332,638 (GRCm39)	S1141G		Het
Vmn2r44	G	T	7: 8,381,314 (GRCm39)	T193K	possibly damaging	Het
Wdr18	T	A	10: 79,801,884 (GRCm39)	M223K	probably benign	Het
Wdr64	T	C	1: 175,617,564 (GRCm39)	C715R	possibly damaging	Het
Zfp672	A	G	11: 58,208,081 (GRCm39)	F80S	possibly 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
R7901:Uts2r	UTSW	11	121,052,234 (GRCm39)	missense	probably benign	0.26
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'- AGAACTACCGTGAGTACCTGCG -3'
(R):5'- CCCCTCAGAGACTGGTTTGAAG -3'

Sequencing Primer
(F):5'- TGAGTACCTGCGTGGCC -3'
(R):5'- TATTGGCATCATAGGAAAGGCTCTG -3'

Posted On

2019-11-26