Mutagenetix > Incidental Mutation

Incidental Mutation 'R9022:Vmn1r228'

686323

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 #

R9022 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20776059-20777501 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20776516 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 247 (I247F)

Ref Sequence

ENSEMBL: ENSMUSP00000072243 (fasta)

Gene Model

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

AlphaFold

Q8R2A7

Predicted Effect

probably damaging
Transcript: ENSMUST00000072410
AA Change: I247F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072243
Gene: ENSMUSG00000060245
AA Change: I247F

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

0.6025

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (84/84)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	G	T	3: 32,715,500	A155S	probably benign	Het
Adar	A	G	3: 89,735,738	T309A	probably benign	Het
Adgrv1	A	T	13: 81,155,193	W6125R	probably damaging	Het
Adprhl1	A	G	8: 13,224,352	L802P	probably benign	Het
Ahcy	A	G	2: 155,068,859	L63P	probably damaging	Het
Ang5	G	A	14: 43,962,895	D139N	probably damaging	Het
Ankrd31	A	G	13: 96,826,147	D482G	probably benign	Het
Arhgef7	A	G	8: 11,800,469	N257D	probably benign	Het
Art3	C	A	5: 92,392,534	S45R	probably benign	Het
Atxn1	T	C	13: 45,567,415	R335G	probably damaging	Het
Bag6	T	A	17: 35,144,665	L775H	probably damaging	Het
BC004004	T	G	17: 29,282,156	H26Q	possibly damaging	Het
Camsap3	T	C	8: 3,606,575	L986S	probably benign	Het
Cbx5	T	C	15: 103,213,159	E17G	probably damaging	Het
Cc2d1b	T	C	4: 108,627,420		probably null	Het
Ccdc59	T	C	10: 105,847,146	Y231H	probably damaging	Het
Csnk1g1	T	C	9: 66,010,572		probably null	Het
Cybrd1	A	G	2: 71,137,560	I158M	possibly damaging	Het
Dirc2	T	C	16: 35,750,542	T131A	probably benign	Het
Disp2	T	A	2: 118,790,698	I637N	probably benign	Het
Dll4	TC	T	2: 119,332,573		probably null	Het
Dnah7a	T	C	1: 53,472,957		probably null	Het
Duox2	C	A	2: 122,280,438	*1518L	probably null	Het
Dym	A	G	18: 75,125,436	I422V	probably benign	Het
Entpd8	A	C	2: 25,085,132	I492L	probably benign	Het
Fabp12	A	G	3: 10,252,273	S13P	probably damaging	Het
Fam124b	A	G	1: 80,212,988	I226T	probably damaging	Het
Fam208b	A	G	13: 3,576,659	V1097A	probably benign	Het
Fer1l6	T	C	15: 58,583,480	L763P	probably damaging	Het
Git2	A	G	5: 114,769,615		probably null	Het
Gltpd2	A	T	11: 70,519,327	Y37F	probably benign	Het
Gm44511	T	G	6: 128,820,308	Q72H	possibly damaging	Het
Grid2ip	A	T	5: 143,380,449	T565S	probably benign	Het
Grk6	T	C	13: 55,459,064	S532P	possibly damaging	Het
Haspin	A	T	11: 73,136,005	F753I	probably damaging	Het
Herpud1	T	A	8: 94,389,569	S92T	possibly damaging	Het
Heyl	C	T	4: 123,245,975	A109V	probably damaging	Het
Hivep3	T	C	4: 120,098,107	S1207P	probably benign	Het
Hk1	A	G	10: 62,269,989	S893P	probably damaging	Het
Itih1	C	A	14: 30,930,370	V789L	probably benign	Het
Kif12	T	C	4: 63,171,884	D10G	possibly damaging	Het
Kif16b	C	T	2: 142,712,617	E754K	possibly damaging	Het
Kif20a	A	G	18: 34,627,845	Q191R	probably benign	Het
Lap3	A	G	5: 45,495,206	D48G	probably benign	Het
Matn3	T	A	12: 8,952,355	V189E	probably damaging	Het
Mbp	G	A	18: 82,578,942	E143K	possibly damaging	Het
Mrgprd	A	G	7: 145,321,818	H142R	probably benign	Het
Nbea	A	T	3: 55,643,689	C2685S	possibly damaging	Het
Nhsl1	A	C	10: 18,527,661	I1381L	possibly damaging	Het
Npc1	A	G	18: 12,213,365	M258T	probably benign	Het
Olfr18	T	A	9: 20,313,972	N316I	probably damaging	Het
Olfr322	T	C	11: 58,665,724	L55P	probably damaging	Het
Osbpl10	C	T	9: 114,978,871	A65V	unknown	Het
Pdia4	C	G	6: 47,808,215	A73P	probably benign	Het
Plxnb2	T	C	15: 89,164,268	Y646C	possibly damaging	Het
Pmm1	C	T	15: 81,955,695	R143H	probably damaging	Het
Pold2	T	C	11: 5,874,121	D228G	probably benign	Het
Popdc2	T	G	16: 38,374,146	C310G	probably benign	Het
Prdm10	A	G	9: 31,357,128	Y791C	probably benign	Het
Psg19	C	T	7: 18,796,837	V131I	probably benign	Het
Psg19	T	A	7: 18,797,119	T37S	probably benign	Het
Psme1	A	G	14: 55,579,814	E39G	probably damaging	Het
Rabep2	A	G	7: 126,444,547	E472G	probably damaging	Het
Rap1gap	T	C	4: 137,717,998	F297S	probably damaging	Het
Reln	A	G	5: 21,976,615	S1757P	possibly damaging	Het
Rybp	G	T	6: 100,233,113	D95E	possibly damaging	Het
Slc12a8	T	A	16: 33,646,564	D480E	probably benign	Het
Slc25a1	A	G	16: 17,927,430	V80A	probably benign	Het
Slc25a24	A	T	3: 109,163,441	D372V	probably benign	Het
Stab1	T	C	14: 31,160,269	T490A	probably benign	Het
Stat5b	A	T	11: 100,790,808	I540N	probably benign	Het
Thy1	T	A	9: 44,046,650	L25Q	probably damaging	Het
Tmem2	T	C	19: 21,812,622		probably null	Het
Trim30a	A	G	7: 104,435,749	S85P	probably benign	Het
Use1	G	A	8: 71,367,298	V36I	probably benign	Het
Vmn2r13	T	A	5: 109,156,376	T730S	possibly damaging	Het
Vmn2r9	T	C	5: 108,845,057	D529G	possibly damaging	Het
Washc5	A	G	15: 59,345,384	I778T	possibly damaging	Het
Washc5	A	T	15: 59,361,220	M294K	probably damaging	Het
Wnt8a	A	T	18: 34,547,245	D221V	probably damaging	Het
Zfp616	A	G	11: 74,085,713	K936R	probably damaging	Het
Zfp618	G	A	4: 63,094,450	C133Y	probably damaging	Het
Zfp82	A	G	7: 30,062,289	S56P	probably damaging	Het
Zkscan16	T	A	4: 58,957,021	D434E	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
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
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'- ACAAAGTTTATGGGCCTGTCC -3'

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

Posted On

2021-10-11