Mutagenetix > Incidental Mutation

Incidental Mutation 'R7064:Vmn1r228'

548479

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 #

R7064 (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 A at 20777023 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 78 (I78L)

Ref Sequence

ENSEMBL: ENSMUSP00000072243 (fasta)

Gene Model

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

AlphaFold

Q8R2A7

Predicted Effect

probably benign
Transcript: ENSMUST00000072410
AA Change: I78L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000072243
Gene: ENSMUSG00000060245
AA Change: I78L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	C	8: 60,531,712	I263T	probably damaging	Het
Adamtsl1	C	T	4: 86,342,041	P830S	possibly damaging	Het
Adrb1	T	C	19: 56,723,024	F218S	probably damaging	Het
Ahnak2	T	C	12: 112,780,742		probably benign	Het
Arsj	T	A	3: 126,438,337	V244E	probably damaging	Het
Atm	T	C	9: 53,507,881	E757G	probably benign	Het
AU040320	A	G	4: 126,792,072	D147G	probably benign	Het
Btnl10	A	T	11: 58,919,308	M92L	possibly damaging	Het
Chd6	T	C	2: 160,950,063	D2458G	probably damaging	Het
Cntn3	T	C	6: 102,273,811	I259V	probably damaging	Het
Ctns	A	G	11: 73,186,392	V250A	probably benign	Het
Cxxc1	T	A	18: 74,220,607		probably null	Het
Cyp2a4	A	T	7: 26,312,307	M318L	probably benign	Het
Dchs1	A	G	7: 105,763,185	L1302P	probably damaging	Het
Decr1	C	A	4: 15,945,392			Het
Dmbx1	T	C	4: 115,918,268	N272D	probably damaging	Het
Dsel	C	A	1: 111,862,847		probably benign	Het
Dspp	A	C	5: 104,176,938	D389A	possibly damaging	Het
Ero1l	T	C	14: 45,306,592	T52A	probably damaging	Het
Fam186a	T	C	15: 99,941,676	E2229G	unknown	Het
Fam208a	C	T	14: 27,472,331	P1163S	probably benign	Het
Gabrd	C	T	4: 155,388,346	V127M	probably damaging	Het
Gpc2	A	T	5: 138,278,910	F85Y	probably damaging	Het
Gucy2g	A	G	19: 55,210,332	L793S	probably benign	Het
Itpr3	G	C	17: 27,089,295	G298R	probably damaging	Het
Kalrn	A	T	16: 34,217,891	C1024S	probably damaging	Het
Krt40	T	C	11: 99,540,128	Y185C	probably benign	Het
Lmo7	G	A	14: 101,884,179	D227N	probably damaging	Het
Mmrn1	T	A	6: 60,988,540	L1184*	probably null	Het
Mrvi1	C	G	7: 110,895,854	E455Q	probably damaging	Het
Olfr113	T	A	17: 37,574,743	R227W	probably damaging	Het
Olfr1211	T	A	2: 88,929,509	M269L	probably benign	Het
Olfr982	T	A	9: 40,074,813	Y173N	probably damaging	Het
Parp9	T	G	16: 35,953,672	V338G	probably benign	Het
Pcdh15	G	A	10: 74,630,614	E888K	possibly damaging	Het
Pcdh9	C	T	14: 93,886,149	E862K	probably damaging	Het
Prkdc	A	G	16: 15,790,453	T3040A	probably benign	Het
Qser1	T	C	2: 104,787,119	E1026G	probably damaging	Het
Rnf20	C	T	4: 49,644,580	R282*	probably null	Het
Rpgrip1l	T	A	8: 91,263,520	K765*	probably null	Het
Rprd2	G	A	3: 95,765,016	T1025M	probably damaging	Het
Scn4a	A	G	11: 106,322,157	Y1341H	possibly damaging	Het
Scn5a	C	G	9: 119,489,911	D1554H	probably damaging	Het
Sept14	T	C	5: 129,697,806	I102V	probably benign	Het
Sept4	A	G	11: 87,590,367	T378A	probably benign	Het
Siglec1	C	T	2: 131,083,914	G291R	probably benign	Het
Sik2	A	G	9: 50,907,420	V418A	probably damaging	Het
Slc9a5	A	G	8: 105,349,446	T24A	possibly damaging	Het
Spata31d1b	T	C	13: 59,716,141	S368P	probably benign	Het
Stip1	T	C	19: 7,035,557	D53G	probably benign	Het
Stk36	T	C	1: 74,610,820	W245R	probably damaging	Het
Stk39	A	T	2: 68,358,812		probably null	Het
Tacr2	T	C	10: 62,261,497	M252T	probably damaging	Het
Terb1	A	T	8: 104,488,554	N263K	probably benign	Het
Tgm5	T	C	2: 121,053,514	M333V	probably benign	Het
Tmem45a	T	C	16: 56,822,404	M135V	probably benign	Het
Trmt13	T	A	3: 116,582,697	K348N	probably damaging	Het
Trmt2a	A	T	16: 18,253,004	M534L	probably damaging	Het
Ttll13	G	A	7: 80,257,030	R513K	probably null	Het
Washc3	T	C	10: 88,245,773	V173A	possibly damaging	Het
Zc2hc1b	A	T	10: 13,171,305	C21S	probably damaging	Het
Zfp944	T	A	17: 22,339,579	H229L	probably damaging	Het
Zfp985	T	A	4: 147,583,116	I147N	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
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'- CAGGAGTTACTGGGACTGATGG -3'
(R):5'- GCTCAGAGACATGATTGTTGCC -3'

Sequencing Primer
(F):5'- TGATGGCCTGAAAGACACTTAAG -3'
(R):5'- CAGAGACATGATTGTTGCCATTATTC -3'

Posted On

2019-05-13