Mutagenetix > Incidental Mutation

Incidental Mutation 'R7880:Vmn1r228'

608720

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r228

Ensembl Gene

ENSMUSG00000060245

Gene Name

vomeronasal 1 receptor 228

Synonyms

V1re3

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7880 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20776059-20777501 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20776410 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 282 (I282N)

Ref Sequence

ENSEMBL: ENSMUSP00000072243 (fasta)

Gene Model

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

AlphaFold

Q8R2A7

Predicted Effect

probably damaging
Transcript: ENSMUST00000072410
AA Change: I282N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072243
Gene: ENSMUSG00000060245
AA Change: I282N

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	A	7: 133,909,962	D703V	possibly damaging	Het
Adamts1	G	A	16: 85,798,052	R340*	probably null	Het
Akap13	A	G	7: 75,586,216	T180A	probably damaging	Het
Arhgap31	G	A	16: 38,602,725	A993V	probably benign	Het
Asxl3	C	T	18: 22,522,151	P1073S	possibly damaging	Het
Bmp3	T	G	5: 98,872,575	S286A	probably damaging	Het
Cacna2d4	C	T	6: 119,349,155	S1078F	probably damaging	Het
Cd101	A	G	3: 101,007,866	L799P	probably benign	Het
Chst13	C	T	6: 90,325,080	R28H	possibly damaging	Het
CN725425	T	A	15: 91,246,105	C390*	probably null	Het
Crabp1	C	A	9: 54,765,658	C82*	probably null	Het
Cyp2b23	A	C	7: 26,673,134	V352G	probably damaging	Het
Dmrta1	T	A	4: 89,688,844	V179E	possibly damaging	Het
Ect2l	T	C	10: 18,136,954	D839G	possibly damaging	Het
Espnl	A	T	1: 91,344,766	E616V	possibly damaging	Het
Fam50b	C	A	13: 34,746,819	Q93K	probably benign	Het
Focad	C	T	4: 88,401,170	R1539C	unknown	Het
Gm14443	T	A	2: 175,169,370	I428L	probably benign	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,089,825		probably benign	Het
Gm7030	T	A	17: 36,127,869	H210L	possibly damaging	Het
Gramd1c	C	G	16: 43,992,076	A193P	probably benign	Het
Gsn	A	G	2: 35,283,927	H54R	probably damaging	Het
Gucy2g	T	A	19: 55,206,280	I902F	probably damaging	Het
Heg1	T	C	16: 33,719,509	S280P	possibly damaging	Het
Herc1	G	T	9: 66,508,224	R4827L	probably damaging	Het
Igsf21	A	G	4: 140,157,508	C46R	probably damaging	Het
Kansl1	G	T	11: 104,424,153	A353D	probably damaging	Het
Kcnab3	A	G	11: 69,331,464	Y311C	probably damaging	Het
Kctd18	A	G	1: 57,967,619	I24T	possibly damaging	Het
Lpcat4	C	A	2: 112,240,031	H30N	probably benign	Het
Lrrc4c	A	G	2: 97,630,798	I590V	probably benign	Het
Lrrc69	T	C	4: 14,703,946	I291M	possibly damaging	Het
Nsun6	A	C	2: 14,996,379	C455W	probably damaging	Het
Olfr1112	T	A	2: 87,192,090	C134*	probably null	Het
Olfr1264	A	T	2: 90,022,037	F10I	probably damaging	Het
Olfr832	T	G	9: 18,944,728	L27V	probably benign	Het
Olfr992	G	T	2: 85,400,035	S166Y	possibly damaging	Het
Orc6	T	C	8: 85,305,244	I162T	probably benign	Het
Pex13	A	T	11: 23,649,369	S381T	probably benign	Het
Ppil1	G	A	17: 29,261,788	H54Y	probably damaging	Het
Prrt4	T	C	6: 29,170,156	I766V	probably benign	Het
Rab32	C	T	10: 10,546,415	V187M	probably damaging	Het
Sema5a	T	A	15: 32,686,808	I1022N	probably damaging	Het
Sipa1l2	T	C	8: 125,464,393	T953A	probably damaging	Het
Snapc3	T	C	4: 83,435,194	S157P	probably damaging	Het
Spink5	A	G	18: 43,986,326	R235G	probably benign	Het
Stx5a	G	A	19: 8,742,328	G19D	probably damaging	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Taf4	G	A	2: 179,935,933	R532*	probably null	Het
Tmpo	T	A	10: 91,166,030	K106*	probably null	Het
Trnt1	T	C	6: 106,769,556		probably null	Het
Vps13d	A	T	4: 145,181,114		probably null	Het
Zfp703	A	G	8: 26,978,690	I51V	unknown	Het
Zfp787	A	G	7: 6,132,191	F354L	probably benign	Het
Znrf2	T	C	6: 54,817,347	V111A	probably benign	Het
Zwint	G	T	10: 72,657,092	R182L	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
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
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
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'- TATCCTCACGGTAGGAAGAGAG -3'
(R):5'- ACTCATTGTAGTTTCCAGCACC -3'

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

Posted On

2019-12-20