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: 0.096) question?

Stock #

PIT4498001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20776059-20777501 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 20776510 bp (GRCm38)

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: 40,574,356	N191S	probably benign	Het
Cacnb2	T	A	2: 14,874,819	L84*	probably null	Het
Cdhr2	C	T	13: 54,718,239	T284M	possibly damaging	Het
D430042O09Rik	A	G	7: 125,813,596	T371A	probably benign	Het
Defb45	T	C	2: 152,596,474		probably benign	Het
Dkk3	C	T	7: 112,119,472	V236M	probably benign	Het
Dscc1	A	T	15: 55,082,315	V328D	probably benign	Het
Epha3	T	C	16: 63,552,526	Y938C	probably damaging	Het
Erc1	A	T	6: 119,779,491	F435I	possibly damaging	Het
Fbxl5	T	C	5: 43,750,981	Y626C	possibly damaging	Het
Fmn2	A	G	1: 174,612,604	R1196G	probably damaging	Het
Gabrr1	C	T	4: 33,160,225	S303F	probably damaging	Het
Ggt1	T	C	10: 75,578,855	V169A	possibly damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,667,016		probably null	Het
Gm13084	T	C	4: 143,812,836	E29G	possibly damaging	Het
Gm3182	T	A	14: 4,481,832	C9S	probably damaging	Het
Gpr88	A	C	3: 116,252,615	S16A	unknown	Het
Kalrn	A	T	16: 34,031,582	M2076K	possibly damaging	Het
Kcnd3	T	C	3: 105,658,709	I402T	probably damaging	Het
Mink1	A	G	11: 70,598,888	D57G	probably benign	Het
Ncl	T	C	1: 86,351,440	T584A	possibly damaging	Het
Nfx1	A	T	4: 40,977,244	Q306L	probably benign	Het
Ogdh	A	T	11: 6,340,504	D374V	probably benign	Het
Olfr1167	T	A	2: 88,149,915	T35S	probably benign	Het
Pak7	T	A	2: 136,083,291	H697L	probably damaging	Het
Pappa	T	C	4: 65,316,232	C1425R	probably damaging	Het
Rab3gap2	T	A	1: 185,281,685	I1196N	probably damaging	Het
Ralyl	A	T	3: 14,107,239	D56V	probably damaging	Het
Scin	C	T	12: 40,069,447		probably null	Het
Slc25a19	T	C	11: 115,623,955	I69V	possibly damaging	Het
Slc8a1	G	T	17: 81,648,840	Y256*	probably null	Het
Smyd1	T	C	6: 71,219,288	H372R	probably benign	Het
St8sia1	T	C	6: 142,914,122	T94A	probably damaging	Het
Stard9	T	A	2: 120,697,435	M1391K	possibly damaging	Het
Tlr9	G	A	9: 106,223,522	R4H	probably benign	Het
Trim50	A	G	5: 135,353,477	D61G	probably damaging	Het
Ttn	G	A	2: 76,766,951	P19873S	probably damaging	Het
Vmn2r108	C	T	17: 20,463,017	G642S	probably damaging	Het
Wdr27	A	G	17: 14,934,569	S29P	probably benign	Het
Zan	A	G	5: 137,417,036		probably null	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
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
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'- GGAAAACACAAAGCTATGATTGCTG -3'
(R):5'- TACAAAGTTTATGGGCCTGTCC -3'

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

Posted On

2019-06-07