Mutagenetix > Incidental Mutation

Incidental Mutation 'R8000:Vmn1r228'

616339

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: 0.096) question?

Stock #

R8000 (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 20776965 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 97 (M97K)

Ref Sequence

ENSEMBL: ENSMUSP00000072243 (fasta)

Gene Model

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

AlphaFold

Q8R2A7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072410
AA Change: M97K

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072243
Gene: ENSMUSG00000060245
AA Change: M97K

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029I15Rik	A	G	2: 92,385,527	K69E	unknown	Het
4833423E24Rik	A	G	2: 85,518,726	V14A	probably benign	Het
Aadacl2	A	G	3: 60,017,375	K121R	possibly damaging	Het
Acaca	A	G	11: 84,392,231	K2208E	possibly damaging	Het
Actn1	A	G	12: 80,199,008	F134L	probably damaging	Het
Akt3	A	T	1: 177,050,197	V335D	probably damaging	Het
Arhgef10	T	G	8: 14,930,054	I98S	probably damaging	Het
Celf4	T	C	18: 25,504,517	N209S	probably benign	Het
Col4a4	G	A	1: 82,541,297	P59L	unknown	Het
Dmwd	C	T	7: 19,080,735	L437F	probably damaging	Het
Dock4	T	A	12: 40,833,119	L1642I	probably benign	Het
Fam213a	A	C	14: 40,994,526	*230G	probably null	Het
Fap	A	G	2: 62,502,798		probably null	Het
Fbxo18	A	T	2: 11,767,289	Y194N	probably benign	Het
Fras1	A	G	5: 96,762,677	T3322A	probably damaging	Het
Gabra4	A	G	5: 71,623,961	F369S	probably damaging	Het
Igkv9-124	T	A	6: 67,942,152	D92V	probably damaging	Het
Kcna6	C	A	6: 126,738,985	E314*	probably null	Het
Kyat1	A	C	2: 30,192,053	S25A	probably benign	Het
Lars2	G	A	9: 123,436,244	G455D	probably damaging	Het
Mertk	A	G	2: 128,771,498	H478R	probably benign	Het
Mier1	A	T	4: 103,131,043	T83S	probably damaging	Het
Mmp1a	C	A	9: 7,476,214	H437Q	probably benign	Het
Muc4	C	G	16: 32,753,930	Q1269E	probably benign	Het
Neb	G	T	2: 52,288,844	A1300D	probably damaging	Het
Nell2	T	A	15: 95,435,274	L167F	probably damaging	Het
Olfr1426	T	C	19: 12,087,994	D266G	probably damaging	Het
Olfr239	G	C	17: 33,199,347	A100P	probably damaging	Het
Olfr527	T	A	7: 140,336,342	M160K	possibly damaging	Het
Pald1	T	C	10: 61,347,439	T339A	probably benign	Het
Pex13	A	C	11: 23,655,915	L105W	probably damaging	Het
Ptprd	A	C	4: 76,066,242	F556V	possibly damaging	Het
Rgp1	T	A	4: 43,581,664	C314S	probably benign	Het
Rnaseh2a	G	A	8: 84,966,049		probably benign	Het
Rpl7	A	T	1: 16,102,725	M154K	probably benign	Het
Samd9l	A	T	6: 3,373,034	L1409Q	probably damaging	Het
Slc35f3	A	G	8: 126,321,073	T51A	probably benign	Het
Slc7a10	A	G	7: 35,200,440	Y76C		Het
Slk	G	T	19: 47,608,905	A51S		Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
Stk38	A	T	17: 28,992,448	V51E	probably benign	Het
Tecta	A	T	9: 42,367,184	C1009*	probably null	Het
Xpo4	T	C	14: 57,589,946	D931G	probably damaging	Het
Zfp503	T	C	14: 21,986,159	T230A	possibly 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
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'- TGGACAGGCCCATAAACTTTG -3'
(R):5'- GCTCAGAGACATGATTGTTGCC -3'

Sequencing Primer
(F):5'- GGACAGGCCCATAAACTTTGTAGTC -3'
(R):5'- CATGGCAGTAGGAATAGTGCTCTC -3'

Posted On

2020-01-23