Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4498001:Vmn1r228'

556080

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r228

Ensembl Gene

ENSMUSG00000060245

Gene Name

vomeronasal 1 receptor 228

Synonyms

V1re3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

PIT4498001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20996321-20997763 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 20996772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 249 (H249N)

Ref Sequence

ENSEMBL: ENSMUSP00000072243 (fasta)

Gene Model

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

AlphaFold

Q8R2A7

Predicted Effect

probably benign
Transcript: ENSMUST00000072410
AA Change: H249N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000072243
Gene: ENSMUSG00000060245
AA Change: H249N

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: 93.2%
3x: 91.0%
10x: 86.1%
20x: 75.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh18a1	T	C	19: 40,562,800 (GRCm39)	N191S	probably benign	Het
Cacnb2	T	A	2: 14,879,630 (GRCm39)	L84*	probably null	Het
Cdhr2	C	T	13: 54,866,052 (GRCm39)	T284M	possibly damaging	Het
Defb45	T	C	2: 152,438,394 (GRCm39)		probably benign	Het
Dkk3	C	T	7: 111,718,679 (GRCm39)	V236M	probably benign	Het
Dscc1	A	T	15: 54,945,711 (GRCm39)	V328D	probably benign	Het
Epha3	T	C	16: 63,372,889 (GRCm39)	Y938C	probably damaging	Het
Erc1	A	T	6: 119,756,452 (GRCm39)	F435I	possibly damaging	Het
Fbxl5	T	C	5: 43,908,323 (GRCm39)	Y626C	possibly damaging	Het
Fmn2	A	G	1: 174,440,170 (GRCm39)	R1196G	probably damaging	Het
Gabrr1	C	T	4: 33,160,225 (GRCm39)	S303F	probably damaging	Het
Ggt1	T	C	10: 75,414,689 (GRCm39)	V169A	possibly damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gm3182	T	A	14: 4,481,832 (GRCm38)	C9S	probably damaging	Het
Gpr88	A	C	3: 116,046,264 (GRCm39)	S16A	unknown	Het
Kalrn	A	T	16: 33,851,952 (GRCm39)	M2076K	possibly damaging	Het
Katnip	A	G	7: 125,412,768 (GRCm39)	T371A	probably benign	Het
Kcnd3	T	C	3: 105,566,025 (GRCm39)	I402T	probably damaging	Het
Mink1	A	G	11: 70,489,714 (GRCm39)	D57G	probably benign	Het
Ncl	T	C	1: 86,279,162 (GRCm39)	T584A	possibly damaging	Het
Nfx1	A	T	4: 40,977,244 (GRCm39)	Q306L	probably benign	Het
Ogdh	A	T	11: 6,290,504 (GRCm39)	D374V	probably benign	Het
Or5d39	T	A	2: 87,980,259 (GRCm39)	T35S	probably benign	Het
Pak5	T	A	2: 135,925,211 (GRCm39)	H697L	probably damaging	Het
Pappa	T	C	4: 65,234,469 (GRCm39)	C1425R	probably damaging	Het
Pramel26	T	C	4: 143,539,406 (GRCm39)	E29G	possibly damaging	Het
Rab3gap2	T	A	1: 185,013,882 (GRCm39)	I1196N	probably damaging	Het
Ralyl	A	T	3: 14,172,299 (GRCm39)	D56V	probably damaging	Het
Scin	C	T	12: 40,119,446 (GRCm39)		probably null	Het
Slc25a19	T	C	11: 115,514,781 (GRCm39)	I69V	possibly damaging	Het
Slc8a1	G	T	17: 81,956,269 (GRCm39)	Y256*	probably null	Het
Smyd1	T	C	6: 71,196,272 (GRCm39)	H372R	probably benign	Het
St8sia1	T	C	6: 142,859,848 (GRCm39)	T94A	probably damaging	Het
Stard9	T	A	2: 120,527,916 (GRCm39)	M1391K	possibly damaging	Het
Tlr9	G	A	9: 106,100,721 (GRCm39)	R4H	probably benign	Het
Trim50	A	G	5: 135,382,331 (GRCm39)	D61G	probably damaging	Het
Ttn	G	A	2: 76,597,295 (GRCm39)	P19873S	probably damaging	Het
Vmn2r108	C	T	17: 20,683,279 (GRCm39)	G642S	probably damaging	Het
Wdr27	A	G	17: 15,154,831 (GRCm39)	S29P	probably benign	Het
Zan	A	G	5: 137,415,298 (GRCm39)		probably null	Het

Other mutations in Vmn1r228

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Vmn1r228	APN	17	20,996,774 (GRCm39)	missense	probably benign	0.07
IGL03275:Vmn1r228	APN	17	20,997,104 (GRCm39)	missense	probably damaging	1.00
R0097:Vmn1r228	UTSW	17	20,996,625 (GRCm39)	missense	probably benign	0.05
R0097:Vmn1r228	UTSW	17	20,996,625 (GRCm39)	missense	probably benign	0.05
R0270:Vmn1r228	UTSW	17	20,996,858 (GRCm39)	missense	possibly damaging	0.60
R0279:Vmn1r228	UTSW	17	20,996,637 (GRCm39)	missense	probably benign	0.02
R1544:Vmn1r228	UTSW	17	20,997,285 (GRCm39)	missense	probably benign	0.00
R1695:Vmn1r228	UTSW	17	20,996,560 (GRCm39)	missense	possibly damaging	0.49
R2086:Vmn1r228	UTSW	17	20,997,455 (GRCm39)	missense	possibly damaging	0.71
R2275:Vmn1r228	UTSW	17	20,996,807 (GRCm39)	missense	probably damaging	1.00
R2965:Vmn1r228	UTSW	17	20,996,609 (GRCm39)	missense	probably damaging	0.99
R4425:Vmn1r228	UTSW	17	20,996,861 (GRCm39)	missense	probably damaging	1.00
R4447:Vmn1r228	UTSW	17	20,997,369 (GRCm39)	missense	probably damaging	0.96
R5031:Vmn1r228	UTSW	17	20,996,943 (GRCm39)	nonsense	probably null
R6345:Vmn1r228	UTSW	17	20,997,144 (GRCm39)	missense	probably damaging	1.00
R7064:Vmn1r228	UTSW	17	20,997,285 (GRCm39)	missense	probably benign	0.00
R7880:Vmn1r228	UTSW	17	20,996,672 (GRCm39)	missense	probably damaging	1.00
R8000:Vmn1r228	UTSW	17	20,997,227 (GRCm39)	missense	possibly damaging	0.88
R8290:Vmn1r228	UTSW	17	20,996,724 (GRCm39)	missense	probably benign	0.09
R9022:Vmn1r228	UTSW	17	20,996,778 (GRCm39)	missense	probably damaging	1.00
R9027:Vmn1r228	UTSW	17	20,997,422 (GRCm39)	missense	probably benign	0.01
R9291:Vmn1r228	UTSW	17	20,997,023 (GRCm39)	missense	probably benign
R9492:Vmn1r228	UTSW	17	20,996,862 (GRCm39)	missense	probably damaging	1.00
R9618:Vmn1r228	UTSW	17	20,997,045 (GRCm39)	missense	probably benign	0.00
X0018:Vmn1r228	UTSW	17	20,996,963 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- GGAAAACACAAAGCTATGATTGCTG -3'
(R):5'- TACAAAGTTTATGGGCCTGTCC -3'

Sequencing Primer
(F):5'- GATTGCTGTTATATTCATTACCCACC -3'
(R):5'- ACAAAGTTTATGGGCCTGTCCATTTC -3'

Posted On

2019-06-07