Mutagenetix > Incidental Mutation

Incidental Mutation 'R8290:Vmn1r228'

638673

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 #

R8290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20776059-20777501 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20776462 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 265 (T265A)

Ref Sequence

ENSEMBL: ENSMUSP00000072243 (fasta)

Gene Model

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

AlphaFold

Q8R2A7

Predicted Effect

probably benign
Transcript: ENSMUST00000072410
AA Change: T265A

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000072243
Gene: ENSMUSG00000060245
AA Change: T265A

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: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 86,512,282	Y1100N	probably damaging	Het
Abcf2	CAT	CATAAT	5: 24,576,591		probably benign	Het
Adgrv1	T	C	13: 81,481,883	T3576A	probably benign	Het
Adnp2	A	T	18: 80,142,733	N8K	probably damaging	Het
Aftph	A	T	11: 20,725,712	H632Q	probably benign	Het
Arhgef11	A	T	3: 87,725,968	I710F	probably damaging	Het
Atp6v1c2	T	C	12: 17,288,152	N341S	possibly damaging	Het
Ccsap	T	G	8: 123,859,247	D55A	probably benign	Het
Cdh17	A	G	4: 11,817,037	N816S	probably benign	Het
Celf3	A	G	3: 94,479,182	I26V	probably benign	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Chek2	A	G	5: 110,860,900	E299G	possibly damaging	Het
Clca2	A	G	3: 145,087,958	V312A	possibly damaging	Het
Cnn1	A	G	9: 22,101,151	K25R	probably benign	Het
Cry1	A	T	10: 85,143,113	Y516*	probably null	Het
Dcaf4	T	C	12: 83,541,559	S498P	probably benign	Het
Dmgdh	T	C	13: 93,706,736	V360A	probably benign	Het
Dnajc18	G	A	18: 35,683,271	R205*	probably null	Het
Eif4a2	G	T	16: 23,108,622	G22C	probably damaging	Het
Elmo2	A	G	2: 165,309,003	I196T	probably damaging	Het
Epha3	A	G	16: 63,652,496	I342T	possibly damaging	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Etf1	G	A	18: 34,931,838	P35L	unknown	Het
Etnk2	A	C	1: 133,379,389	*386C	probably null	Het
Fgg	A	T	3: 83,012,834	I307F	probably benign	Het
Flg2	A	G	3: 93,202,762	Q699R	unknown	Het
Foxp4	T	A	17: 47,880,853	T120S	unknown	Het
Fzd1	A	G	5: 4,757,060	V174A	possibly damaging	Het
Gad1	A	C	2: 70,574,266	I167L	probably benign	Het
Gfm2	T	A	13: 97,145,663	D55E	probably benign	Het
Gm6904	T	C	14: 59,247,969	Y114C	probably damaging	Het
Grb14	G	T	2: 64,975,585	A12E	probably benign	Het
Hnmt	A	C	2: 24,003,884	Y199*	probably null	Het
Kit	A	G	5: 75,641,169	I615V	probably benign	Het
Kpna6	A	G	4: 129,661,304		probably null	Het
Lpxn	C	T	19: 12,832,688	R275C	probably damaging	Het
Magi1	C	T	6: 94,283,085	G80S	probably damaging	Het
Men1	A	G	19: 6,338,286	I312V	probably benign	Het
Msx2	A	G	13: 53,468,492	F161L	probably damaging	Het
Mtr	T	C	13: 12,190,253	D1107G	probably damaging	Het
Muc4	A	T	16: 32,754,316	M1397L	probably benign	Het
Mybpc3	A	G	2: 91,121,128	N259S	probably benign	Het
Myo5c	A	G	9: 75,288,896	K1242R	probably benign	Het
Myoc	T	C	1: 162,649,032	V435A	possibly damaging	Het
Nbea	G	A	3: 56,058,635	Q469*	probably null	Het
Ndufa10	A	C	1: 92,463,147	M227R	possibly damaging	Het
Obscn	C	T	11: 59,062,710	D3831N	probably damaging	Het
Obscn	T	C	11: 59,124,574	E1024G	probably damaging	Het
Oma1	T	C	4: 103,319,474	L145P	probably damaging	Het
Phf12	C	A	11: 78,029,639	N1000K	probably benign	Het
Plxnb1	G	T	9: 109,109,619	A1350S	probably benign	Het
Prkd1	C	T	12: 50,342,016	V915I	probably damaging	Het
Prkra	T	A	2: 76,633,638	N227Y	probably damaging	Het
Prtg	A	T	9: 72,890,795	H681L	probably damaging	Het
Rtn1	T	C	12: 72,308,419	K251R	probably benign	Het
Sema6b	A	T	17: 56,124,803	V620E	possibly damaging	Het
Senp7	T	A	16: 56,153,637	L407*	probably null	Het
Sh3pxd2a	A	T	19: 47,314,136	L168Q	probably damaging	Het
Shtn1	A	G	19: 58,999,894	L453P	probably damaging	Het
Slc26a6	G	A	9: 108,856,031	R43H	probably benign	Het
Stac3	T	C	10: 127,503,360		probably null	Het
Taf2	A	G	15: 55,063,020	F178S	probably damaging	Het
Tcp10a	G	A	17: 7,334,317	E239K	probably benign	Het
Ubox5	A	G	2: 130,600,413	V118A	probably damaging	Het
Unc13d	C	A	11: 116,068,147	L729F	probably damaging	Het
Vmn2r100	G	A	17: 19,531,350	V615I	probably damaging	Het
Vmn2r60	T	G	7: 42,142,266	C538G	probably damaging	Het
Vmn2r93	A	T	17: 18,304,029	N95I	probably damaging	Het
Vsig2	A	G	9: 37,539,968	N55S	probably benign	Het
Zfp472	A	G	17: 32,978,114	T388A	probably benign	Het
Zfp853	G	A	5: 143,289,071	Q214*	probably null	Het
Zfp949	A	G	9: 88,569,240	R288G	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
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
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'- TCCAGGTAAAGCAACATCTAGAAGC -3'
(R):5'- AATTCTGTCACTCTGGAGGCC -3'

Sequencing Primer
(F):5'- AGAAGCAGTAAAATCATGACTCATC -3'
(R):5'- CTCTGGAGGCCGTGACAAAATAG -3'

Posted On

2020-07-28