Mutagenetix > Incidental Mutation

Incidental Mutation 'R0279:Vmn1r228'

24590

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r228

Ensembl Gene

ENSMUSG00000060245

Gene Name

vomeronasal 1 receptor 228

Synonyms

V1re3

MMRRC Submission

038501-MU

Accession Numbers

Essential gene?

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

Stock #

R0279 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20776059-20777501 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20776375 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 294 (N294D)

Ref Sequence

ENSEMBL: ENSMUSP00000072243 (fasta)

Gene Model

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

AlphaFold

Q8R2A7

Predicted Effect

probably benign
Transcript: ENSMUST00000072410
AA Change: N294D

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000072243
Gene: ENSMUSG00000060245
AA Change: N294D

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

Meta Mutation Damage Score

0.1048

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.1%
20x: 89.6%

Validation Efficiency

99% (82/83)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
2610528J11Rik	A	T	4: 118,529,293	M1L	probably benign	Het
5730596B20Rik	T	A	6: 52,179,202		probably benign	Het
Acrbp	T	C	6: 125,053,954		probably null	Het
Acss3	A	G	10: 107,084,871	I126T	possibly damaging	Het
Aff3	T	C	1: 38,535,569	E110G	probably damaging	Het
Aldh1a3	T	C	7: 66,409,252	I113V	probably benign	Het
Aplp2	T	C	9: 31,157,790	E525G	probably damaging	Het
Atp2b4	A	G	1: 133,729,702		probably benign	Het
Atp8a1	C	T	5: 67,813,092		probably null	Het
Bhmt	A	G	13: 93,625,464	C104R	probably damaging	Het
Ccdc151	A	G	9: 21,990,247		probably benign	Het
Cct5	T	G	15: 31,591,031	E508A	probably damaging	Het
Celsr1	T	A	15: 85,902,864	E2761D	probably benign	Het
Clstn1	T	C	4: 149,643,674	S600P	probably damaging	Het
Cnppd1	A	G	1: 75,136,929	S232P	probably damaging	Het
Crybb3	T	C	5: 113,079,753		probably null	Het
Csmd1	A	G	8: 16,223,235	I861T	probably damaging	Het
Cyp2d10	A	C	15: 82,405,339	S191A	possibly damaging	Het
Ddx10	T	C	9: 53,235,304	D206G	probably damaging	Het
Dnah1	G	T	14: 31,302,375	H916N	possibly damaging	Het
Dnah9	A	G	11: 65,911,789		probably null	Het
Epb42	G	A	2: 121,029,044		probably benign	Het
Etnppl	A	G	3: 130,629,413	R248G	probably damaging	Het
Eya3	T	C	4: 132,719,247	F369L	probably damaging	Het
Fam129a	T	C	1: 151,709,206		probably null	Het
Fam170b	T	C	14: 32,834,068		probably benign	Het
Fli1	A	T	9: 32,461,427	V105D	probably damaging	Het
Fmo1	T	C	1: 162,830,272	I433M	possibly damaging	Het
Fndc3b	C	A	3: 27,457,006	C785F	probably benign	Het
Foxe3	T	C	4: 114,925,568	D149G	probably damaging	Het
Gk5	T	C	9: 96,174,804		probably benign	Het
Gm14226	A	G	2: 155,025,452	D443G	possibly damaging	Het
Gm9796	C	T	11: 95,697,995		noncoding transcript	Het
Golga4	A	T	9: 118,568,993	R52S	probably benign	Het
Hey2	C	A	10: 30,834,010	C249F	probably damaging	Het
Ipo9	A	T	1: 135,420,363		probably benign	Het
Ireb2	C	A	9: 54,886,593	T269K	probably benign	Het
Kansl3	A	G	1: 36,351,969	V274A	probably damaging	Het
Kcnk2	C	T	1: 189,209,972	A352T	possibly damaging	Het
Lamc2	T	C	1: 153,130,696	E903G	probably benign	Het
Lepr	A	G	4: 101,750,344	K253R	probably benign	Het
Lmntd2	T	C	7: 141,213,623		probably benign	Het
Lrrc39	A	T	3: 116,578,303	T240S	probably benign	Het
Lrrc43	A	G	5: 123,497,022		probably null	Het
Maf	T	C	8: 115,705,756	M370V	possibly damaging	Het
Mib2	G	A	4: 155,661,216	S46L	possibly damaging	Het
Mms22l	C	T	4: 24,497,867	T63I	probably damaging	Het
Morc2a	T	A	11: 3,683,989	S700R	probably benign	Het
Mpz	A	G	1: 171,159,929		probably benign	Het
Ncam2	T	C	16: 81,623,337		probably benign	Het
Nudt14	C	T	12: 112,938,417	A123T	probably damaging	Het
Olfr1016	A	T	2: 85,799,535	I245N	possibly damaging	Het
Olfr13	G	A	6: 43,174,758	M257I	probably benign	Het
Olfr239	C	T	17: 33,199,324	T92I	probably benign	Het
Otoa	T	C	7: 121,111,079		probably benign	Het
Pik3cg	G	A	12: 32,204,791	T399I	probably damaging	Het
Pkn3	C	T	2: 30,083,297	A377V	probably benign	Het
Ppan	A	G	9: 20,891,529	N327S	probably benign	Het
Prkca	T	C	11: 108,054,111		probably benign	Het
Prrc2c	A	T	1: 162,715,464	V320E	probably damaging	Het
Ptprq	A	G	10: 107,608,417	V1442A	probably damaging	Het
Rapgef1	C	T	2: 29,726,227	R834C	probably damaging	Het
Rbms1	G	T	2: 60,842,410	N44K	probably damaging	Het
Rfwd3	A	C	8: 111,282,733	F404V	probably benign	Het
Rimbp3	G	T	16: 17,209,453	R247L	probably benign	Het
Serpinb1b	T	C	13: 33,093,713	S310P	possibly damaging	Het
Smtn	C	A	11: 3,530,235	V329L	probably damaging	Het
Snapc2	T	C	8: 4,254,979		probably benign	Het
Spam1	A	T	6: 24,800,419	M386L	probably benign	Het
Syne2	A	G	12: 76,095,613	E6208G	probably damaging	Het
Teddm1a	T	C	1: 153,892,623	Y278H	probably damaging	Het
Tnfaip6	A	T	2: 52,055,916	N258I	possibly damaging	Het
Trpm4	C	T	7: 45,322,048	R188Q	probably damaging	Het
Ttbk2	A	T	2: 120,748,960	H491Q	probably benign	Het
Urgcp	C	T	11: 5,716,989	E450K	probably benign	Het
Wdfy3	A	T	5: 101,868,092	C2606S	probably damaging	Het
Wdr33	T	A	18: 31,888,324	H642Q	unknown	Het
Zbtb46	A	G	2: 181,411,774	S382P	possibly damaging	Het
Zfp217	A	G	2: 170,119,780	I209T	probably benign	Het
Zranb3	T	A	1: 127,963,773	N822I	probably benign	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
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
R2965:Vmn1r228	UTSW	17	20776347	missense	probably damaging	0.99
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'- CCTCACGGTAGGAAGAGAGAACTCA -3'
(R):5'- AGTTTCCAGCACCTTCATGATTGTCA -3'

Sequencing Primer
(F):5'- gcacagtttattgagctaaaaacc -3'
(R):5'- CATACTTTACAGACACAAGAAAAGGG -3'

Posted On

2013-04-16