Mutagenetix > Incidental Mutation

Incidental Mutation 'R7999:Uts2r'

616282

Institutional Source

Beutler Lab

Gene Symbol

Uts2r

Ensembl Gene

ENSMUSG00000039321

Gene Name

urotensin 2 receptor

Synonyms

urotensin II receptor, Gpr14, UTR2

MMRRC Submission

046039-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R7999 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121051097-121052799 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121051495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 120 (V120M)

Ref Sequence

ENSEMBL: ENSMUSP00000046920 (fasta)

Gene Model

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

AlphaFold

Q8VIH9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039044
AA Change: V120M

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046920
Gene: ENSMUSG00000039321
AA Change: V120M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	A	G	10: 20,841,580 (GRCm39)	E289G	probably benign	Het
Armc2	C	T	10: 41,887,954 (GRCm39)	E10K	possibly damaging	Het
Aspscr1	T	C	11: 120,569,348 (GRCm39)		probably null	Het
B3galnt1	A	G	3: 69,482,548 (GRCm39)	C238R	probably damaging	Het
Bak1	A	G	17: 27,240,280 (GRCm39)	L129P	probably damaging	Het
Bdp1	A	G	13: 100,195,404 (GRCm39)	F1272L	possibly damaging	Het
C2cd3	G	A	7: 100,109,096 (GRCm39)		probably null	Het
Cacna1b	A	T	2: 24,540,638 (GRCm39)	V1363E	probably damaging	Het
Capn11	T	C	17: 45,950,132 (GRCm39)	N344S	probably damaging	Het
Ces1f	A	T	8: 93,989,623 (GRCm39)	V431E	possibly damaging	Het
Cog3	G	T	14: 75,984,533 (GRCm39)	S94Y	possibly damaging	Het
Defa29	A	T	8: 21,816,859 (GRCm39)	S45T	probably benign	Het
Dnaaf9	C	A	2: 130,579,372 (GRCm39)	V753L	probably benign	Het
Dnah10	A	G	5: 124,802,322 (GRCm39)	D32G	probably benign	Het
Dnajc24	T	A	2: 105,811,365 (GRCm39)	N70I	probably damaging	Het
Duox2	C	T	2: 122,113,948 (GRCm39)	V1195I	probably benign	Het
Enam	A	T	5: 88,651,561 (GRCm39)	R1023S	probably benign	Het
Ephx4	A	T	5: 107,567,699 (GRCm39)	Q219L	probably damaging	Het
Eppk1	T	C	15: 75,993,204 (GRCm39)	T1226A	probably benign	Het
Eppk1	T	C	15: 75,993,335 (GRCm39)	Q1182R	probably benign	Het
Fiz1	A	T	7: 5,011,997 (GRCm39)	S174T	probably benign	Het
Ggnbp1	C	T	17: 27,248,619 (GRCm39)	R63C	probably benign	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gsdmd	T	A	15: 75,735,295 (GRCm39)	I13N	probably damaging	Het
Gtpbp4	T	C	13: 9,037,322 (GRCm39)	D292G	probably damaging	Het
Hnf1a	A	T	5: 115,098,233 (GRCm39)	L123*	probably null	Het
Ints11	A	G	4: 155,971,413 (GRCm39)	D309G	probably benign	Het
Ints5	T	C	19: 8,874,407 (GRCm39)	S789P	probably benign	Het
Jakmip2	G	A	18: 43,696,398 (GRCm39)	A517V	probably benign	Het
Kat7	A	G	11: 95,174,935 (GRCm39)	Y270H	probably damaging	Het
Kmt2b	A	G	7: 30,276,199 (GRCm39)	S1767P	probably damaging	Het
Lonp2	A	G	8: 87,361,537 (GRCm39)	D238G	probably benign	Het
Lrfn3	A	G	7: 30,059,449 (GRCm39)	W259R	probably damaging	Het
Mmrn2	G	A	14: 34,119,879 (GRCm39)	D250N	probably benign	Het
Mre11a	A	T	9: 14,710,965 (GRCm39)	R49*	probably null	Het
Mug1	T	C	6: 121,857,855 (GRCm39)	L1116P	possibly damaging	Het
Mup9	A	G	4: 60,374,202 (GRCm39)	S234P	probably benign	Het
Nlrp9c	A	G	7: 26,084,914 (GRCm39)	F222L	possibly damaging	Het
Nr2e3	A	G	9: 59,856,282 (GRCm39)	V85A	probably damaging	Het
Or4a79	A	G	2: 89,552,344 (GRCm39)	I37T	probably benign	Het
Prl3d2	A	G	13: 27,307,949 (GRCm39)	T77A	probably benign	Het
Prpsap1	A	T	11: 116,381,042 (GRCm39)	M1K	probably null	Het
Prrc2b	C	T	2: 32,084,426 (GRCm39)	T297M	probably damaging	Het
Rasa3	A	G	8: 13,681,805 (GRCm39)	F48S	probably benign	Het
Rbm24	A	T	13: 46,572,507 (GRCm39)	M1L	possibly damaging	Het
Ren1	C	A	1: 133,282,604 (GRCm39)	T103K	probably damaging	Het
Rpf2	C	T	10: 40,099,880 (GRCm39)	G260S	probably damaging	Het
Sall4	C	T	2: 168,594,561 (GRCm39)	G862D	probably damaging	Het
Samd4	G	T	14: 47,301,704 (GRCm39)	R336L	probably damaging	Het
Shoc1	G	C	4: 59,094,162 (GRCm39)	F187L	probably benign	Het
Siglec1	T	C	2: 130,913,083 (GRCm39)	N1611S	probably benign	Het
Skil	A	G	3: 31,151,751 (GRCm39)	H91R	possibly damaging	Het
Snip1	T	C	4: 124,965,174 (GRCm39)	V193A	probably benign	Het
Sp2	A	T	11: 96,852,663 (GRCm39)	I87N	probably damaging	Het
Syna	T	C	5: 134,588,046 (GRCm39)	H301R	probably benign	Het
Tdg	A	G	10: 82,477,216 (GRCm39)	K89R	possibly damaging	Het
Tdrd7	G	A	4: 46,010,902 (GRCm39)		probably null	Het
Trak1	G	A	9: 121,289,491 (GRCm39)	R601H	probably damaging	Het
Triobp	T	C	15: 78,844,144 (GRCm39)	L120P	probably damaging	Het
Utp20	A	T	10: 88,606,250 (GRCm39)	N1697K	probably benign	Het
Vmn2r59	A	G	7: 41,696,256 (GRCm39)	L162P	probably damaging	Het
Zbtb17	G	A	4: 141,189,134 (GRCm39)	R18Q	probably damaging	Het
Zfp551	A	T	7: 12,151,138 (GRCm39)	C90*	probably null	Het
Zfp605	T	A	5: 110,276,300 (GRCm39)	C473S	probably damaging	Het
Zfp764l1	T	A	7: 126,991,600 (GRCm39)	S117C	probably damaging	Het
Zfp975	A	T	7: 42,312,356 (GRCm39)	Y86N	probably benign	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
R7901:Uts2r	UTSW	11	121,052,234 (GRCm39)	missense	probably benign	0.26
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'- CACAACAGTTCCTGGACTGG -3'
(R):5'- GCATCATGGGTAAGGTCAGC -3'

Sequencing Primer
(F):5'- AGTGCTCTCAACCATGGGTG -3'
(R):5'- TCATGGGTAAGGTCAGCAGCAG -3'

Posted On

2020-01-23