Mutagenetix > Incidental Mutation

Incidental Mutation 'R9492:Vmn1r228'

717032

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 #

R9492 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20776059-20777501 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20776600 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 219 (E219K)

Ref Sequence

ENSEMBL: ENSMUSP00000072243 (fasta)

Gene Model

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

AlphaFold

Q8R2A7

Predicted Effect

probably damaging
Transcript: ENSMUST00000072410
AA Change: E219K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072243
Gene: ENSMUSG00000060245
AA Change: E219K

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	C	1: 120,150,742	K43T	probably damaging	Het
Abca12	A	G	1: 71,258,221	V2370A	possibly damaging	Het
Abca13	T	A	11: 9,293,667	C1843*	probably null	Het
Abr	C	T	11: 76,508,925	S82N	probably benign	Het
Acot2	T	C	12: 83,992,610	S298P	probably benign	Het
Acrbp	A	G	6: 125,061,099	D421G	probably benign	Het
Adam25	A	T	8: 40,753,699	M1L	probably benign	Het
Ano8	A	G	8: 71,482,140	V441A	possibly damaging	Het
Atg2b	T	C	12: 105,658,290	H650R	probably benign	Het
Atp11a	C	T	8: 12,844,490	T695I	probably damaging	Het
AU018091	A	G	7: 3,164,193	S74P	probably benign	Het
Cadps2	A	G	6: 23,427,239	Y597H	probably benign	Het
Ccdc15	C	T	9: 37,304,369	E619K	probably damaging	Het
Ceacam11	G	T	7: 17,975,543	C222F	probably benign	Het
Cmya5	T	C	13: 93,041,314	*3677W	probably null	Het
Col11a1	G	C	3: 114,212,103	C1628S	probably benign	Het
Dhx8	T	C	11: 101,763,982	I1032T	possibly damaging	Het
Doxl2	T	C	6: 48,978,606	S717P	probably benign	Het
Dpp10	T	C	1: 123,353,430	D630G	probably damaging	Het
Eci3	C	T	13: 34,959,993	G50R	probably benign	Het
Eif2a	A	G	3: 58,541,054	T103A	probably benign	Het
Frem1	T	C	4: 83,001,820	E432G	probably damaging	Het
Gdnf	C	T	15: 7,810,942		probably benign	Het
Hace1	T	A	10: 45,671,134	M471K	probably benign	Het
Hydin	A	G	8: 110,600,245	T4739A	possibly damaging	Het
Ilf2	A	G	3: 90,487,263	I320V	probably benign	Het
Iqgap3	C	A	3: 88,108,869	F986L	probably damaging	Het
Klhl21	T	C	4: 152,008,962	L7S	probably benign	Het
Lrrc61	G	T	6: 48,568,827	E195*	probably null	Het
Maz	G	T	7: 127,023,120	A443E	possibly damaging	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Mtor	T	A	4: 148,484,344	L1107Q	probably damaging	Het
Nectin3	T	C	16: 46,395,148	H494R	probably benign	Het
Nlgn1	G	T	3: 25,434,316	Y618*	probably null	Het
Nup98	C	T	7: 102,129,045	E1372K	probably benign	Het
Olfr1121	A	G	2: 87,371,616	N28S	probably benign	Het
Olfr312	T	C	11: 58,831,784	V210A	probably benign	Het
Otud6b	A	G	4: 14,818,349	I184T	probably damaging	Het
Pcsk6	A	G	7: 66,047,598	N891S	probably benign	Het
Pde4a	T	A	9: 21,194,800	L237Q	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,218,068		probably benign	Het
Pou3f1	A	G	4: 124,658,386	H227R	possibly damaging	Het
Prss53	G	A	7: 127,889,630	R31C	probably damaging	Het
Psmb8	T	A	17: 34,198,461	D21E	probably benign	Het
Ptprq	A	G	10: 107,642,952	Y1277H	probably damaging	Het
Rexo2	T	C	9: 48,468,876	T219A	probably benign	Het
Rfc3	A	G	5: 151,642,946	F346S	probably damaging	Het
Rhoq	A	T	17: 86,996,945	Q168L		Het
Sgk1	A	G	10: 21,998,197	N452S	probably damaging	Het
Slc35f3	A	G	8: 126,321,287	K122R	probably damaging	Het
Slc4a2	T	A	5: 24,439,763	M1021K	probably benign	Het
Sorcs2	A	G	5: 36,029,140	V886A	probably benign	Het
Spata20	T	A	11: 94,483,618	M308L	probably damaging	Het
Spen	A	T	4: 141,471,787	H3176Q	probably benign	Het
Stat5b	T	A	11: 100,801,535	H141L	probably benign	Het
Syne2	T	A	12: 75,949,065	H2126Q	possibly damaging	Het
Traj46	A	G	14: 54,172,394	T20A		Het
Trim30a	G	T	7: 104,429,123	Q249K	probably damaging	Het
Trmt13	A	G	3: 116,594,632	Y52H	probably benign	Het
Trpv3	A	G	11: 73,296,441	I700V	probably damaging	Het
Tyr	G	A	7: 87,472,496	H363Y	probably damaging	Het
Tyr	C	G	7: 87,472,497	M362I	possibly damaging	Het
Ubb	G	A	11: 62,552,158	V5M	probably damaging	Het
Unc5a	T	C	13: 55,002,475	L519P	probably damaging	Het
Uso1	A	G	5: 92,167,332	D185G	possibly damaging	Het
Wdr49	A	G	3: 75,333,362	V400A	probably damaging	Het
Zfp292	A	G	4: 34,810,794	M755T	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
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
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'- CCAATTGGGATCATGTGAAAGAGC -3'
(R):5'- AAGTTTATGGGCCTGTCCATTTC -3'

Sequencing Primer
(F):5'- GGATCATGTGAAAGAGCAATATATCC -3'
(R):5'- GTCCATTTCCTTCTACTGGGTCATG -3'

Posted On

2022-07-18