Mutagenetix > Incidental Mutation

Incidental Mutation 'R2965:Vmn1r228'

256041

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r228

Ensembl Gene

ENSMUSG00000060245

Gene Name

vomeronasal 1 receptor 228

Synonyms

V1re3

MMRRC Submission

040521-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R2965 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20776059-20777501 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20776347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 303 (I303T)

Ref Sequence

ENSEMBL: ENSMUSP00000072243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072410]

AlphaFold

Q8R2A7

Predicted Effect

probably damaging
Transcript: ENSMUST00000072410
AA Change: I303T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072243
Gene: ENSMUSG00000060245
AA Change: I303T

Domain	Start	End	E-Value	Type
Pfam:TAS2R	32	317	2.6e-11	PFAM
Pfam:7tm_1	53	316	2.6e-9	PFAM
Pfam:V1R	63	321	1.3e-26	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,626,405	R511*	probably null	Het
4930430A15Rik	A	T	2: 111,204,019	S359T	possibly damaging	Het
Add1	C	A	5: 34,630,714	D702E	probably benign	Het
Aff3	A	G	1: 38,209,710	I772T	probably damaging	Het
Ankar	T	C	1: 72,675,820	I382V	probably benign	Het
Anks1	A	G	17: 28,053,905	T925A	probably benign	Het
Asprv1	T	A	6: 86,628,366	C65S	probably damaging	Het
Atp8a1	T	C	5: 67,647,706	D1022G	probably benign	Het
Cep250	A	G	2: 155,994,878	K2256E	probably benign	Het
Chsy1	G	A	7: 66,172,164	G716R	probably damaging	Het
Cntln	T	C	4: 84,974,027		probably null	Het
Col13a1	G	A	10: 61,961,331	R106W	probably damaging	Het
Col2a1	A	G	15: 97,976,095	I1402T	unknown	Het
Col4a3	T	C	1: 82,648,600	L86P	unknown	Het
Cul9	A	G	17: 46,502,228	V2355A	probably damaging	Het
Ddx43	C	A	9: 78,406,379	Y197*	probably null	Het
Dnah7b	T	A	1: 46,207,572	I1636N	probably damaging	Het
Dpysl5	G	A	5: 30,791,597	D399N	probably damaging	Het
Dyrk2	T	A	10: 118,860,337	K339*	probably null	Het
Fam187b	A	C	7: 30,977,729	D221A	probably benign	Het
Fbxw21	A	G	9: 109,145,510	I314T	probably benign	Het
Fgd6	T	A	10: 94,044,194	F303L	probably benign	Het
Fstl3	T	C	10: 79,781,223	V200A	probably benign	Het
Gm10784	A	T	13: 49,945,197		noncoding transcript	Het
Gpr45	G	A	1: 43,032,508	D104N	possibly damaging	Het
Gria1	C	T	11: 57,185,801	Q8*	probably null	Het
H2-T22	A	G	17: 36,040,645	L231S	probably damaging	Het
Ice1	A	T	13: 70,602,578	D1796E	probably benign	Het
Ing1	T	A	8: 11,561,641	S26R	probably benign	Het
Klhl2	C	T	8: 64,752,760	V376M	probably benign	Het
Lrriq1	A	G	10: 103,214,900	S664P	probably benign	Het
Ltf	G	T	9: 111,028,472	C443F	possibly damaging	Het
Mgam	T	C	6: 40,768,220	V1807A	possibly damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Mycbp2	A	G	14: 103,297,358	V304A	probably benign	Het
Nek10	T	C	14: 14,836,202	L141P	probably damaging	Het
Noa1	T	C	5: 77,306,344	E483G	possibly damaging	Het
Olfr1453	C	T	19: 13,028,048	A94T	probably benign	Het
Pkd1l1	T	A	11: 8,874,236	S1110C	probably damaging	Het
Ppp4r4	T	C	12: 103,612,821	S873P	probably damaging	Het
Prss35	A	G	9: 86,755,582	D135G	probably damaging	Het
Pth	T	C	7: 113,385,929	H79R	probably benign	Het
Rab21	T	C	10: 115,294,909	N164S	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,579,908		probably benign	Het
Slc4a5	C	T	6: 83,296,669	T997I	probably damaging	Het
Ssrp1	A	G	2: 85,041,586	T385A	possibly damaging	Het
Tcf15	T	C	2: 152,143,951	I109T	probably damaging	Het
Tcp11	C	A	17: 28,069,265	D330Y	probably benign	Het
Tktl2	T	A	8: 66,512,063	V91E	probably benign	Het
Usp48	G	A	4: 137,613,762	V358M	probably damaging	Het
Zfp229	T	G	17: 21,746,029	H413Q	probably damaging	Het

Other mutations in Vmn1r228

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Vmn1r228	APN	17	20776512	missense	probably benign	0.07
IGL03275:Vmn1r228	APN	17	20776842	missense	probably damaging	1.00
PIT4498001:Vmn1r228	UTSW	17	20776510	missense	probably benign	0.00
R0097:Vmn1r228	UTSW	17	20776363	missense	probably benign	0.05
R0097:Vmn1r228	UTSW	17	20776363	missense	probably benign	0.05
R0270:Vmn1r228	UTSW	17	20776596	missense	possibly damaging	0.60
R0279:Vmn1r228	UTSW	17	20776375	missense	probably benign	0.02
R1544:Vmn1r228	UTSW	17	20777023	missense	probably benign	0.00
R1695:Vmn1r228	UTSW	17	20776298	missense	possibly damaging	0.49
R2086:Vmn1r228	UTSW	17	20777193	missense	possibly damaging	0.71
R2275:Vmn1r228	UTSW	17	20776545	missense	probably damaging	1.00
R4425:Vmn1r228	UTSW	17	20776599	missense	probably damaging	1.00
R4447:Vmn1r228	UTSW	17	20777107	missense	probably damaging	0.96
R5031:Vmn1r228	UTSW	17	20776681	nonsense	probably null
R6345:Vmn1r228	UTSW	17	20776882	missense	probably damaging	1.00
R7064:Vmn1r228	UTSW	17	20777023	missense	probably benign	0.00
R7880:Vmn1r228	UTSW	17	20776410	missense	probably damaging	1.00
R8000:Vmn1r228	UTSW	17	20776965	missense	possibly damaging	0.88
R8290:Vmn1r228	UTSW	17	20776462	missense	probably benign	0.09
R9022:Vmn1r228	UTSW	17	20776516	missense	probably damaging	1.00
R9027:Vmn1r228	UTSW	17	20777160	missense	probably benign	0.01
R9291:Vmn1r228	UTSW	17	20776761	missense	probably benign
R9492:Vmn1r228	UTSW	17	20776600	missense	probably damaging	1.00
R9618:Vmn1r228	UTSW	17	20776783	missense	probably benign	0.00
X0018:Vmn1r228	UTSW	17	20776701	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CCTCACGGTAGGAAGAGAGAACTC -3'
(R):5'- AAGGGTTCAACACATCCTCC -3'

Sequencing Primer
(F):5'- ACCTGTGGTTATCCAGACTATAAGGG -3'
(R):5'- GGTTCAACACATCCTCCATAAACATG -3'

Posted On

2014-12-29