Mutagenetix > Incidental Mutation

Incidental Mutation 'R4425:Vmn1r228'

328133

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r228

Ensembl Gene

ENSMUSG00000060245

Gene Name

vomeronasal 1 receptor 228

Synonyms

V1re3

MMRRC Submission

041144-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R4425 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20776059-20777501 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20776599 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 219 (E219G)

Ref Sequence

ENSEMBL: ENSMUSP00000072243 (fasta)

Gene Model

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

AlphaFold

Q8R2A7

Predicted Effect

probably damaging
Transcript: ENSMUST00000072410
AA Change: E219G

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

SMART Domains

Protein: ENSMUSP00000072243
Gene: ENSMUSG00000060245
AA Change: E219G

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,346,044	T1456A	probably damaging	Het
Acad11	T	C	9: 104,073,645	F56S	probably damaging	Het
Adamts8	A	G	9: 30,956,656	N592S	possibly damaging	Het
Amh	A	G	10: 80,806,921	D313G	probably damaging	Het
Ampd2	T	C	3: 108,086,736		probably benign	Het
Arap3	A	G	18: 37,978,600	L1115P	probably damaging	Het
Arfgap1	C	A	2: 180,981,076	D327E	probably benign	Het
Capns2	T	A	8: 92,901,624	I47N	possibly damaging	Het
Cd163	T	C	6: 124,327,903	S1080P	possibly damaging	Het
Ceacam10	A	T	7: 24,781,008	Y68F	possibly damaging	Het
Cep44	G	A	8: 56,538,617	P317S	probably benign	Het
Cfh	A	T	1: 140,100,875	Y688*	probably null	Het
Chrnb1	A	T	11: 69,786,947	S326R	probably damaging	Het
Cngb1	C	T	8: 95,299,716	V25M	probably damaging	Het
Cyp2c50	A	T	19: 40,090,692	N160Y	possibly damaging	Het
Dalrd3	T	C	9: 108,571,601		probably benign	Het
Eef1d	C	A	15: 75,902,799	S253I	possibly damaging	Het
Efl1	G	A	7: 82,763,283	C960Y	probably damaging	Het
Elmo1	C	G	13: 20,600,212	Y646*	probably null	Het
Epb41l2	C	A	10: 25,506,180	D701E	possibly damaging	Het
Fbxl4	T	A	4: 22,422,699		probably null	Het
Fhod1	T	C	8: 105,337,351		probably benign	Het
Gm21761	C	A	13: 119,912,372	L127F	probably damaging	Het
Gm8741	G	T	17: 35,336,086		noncoding transcript	Het
Igkv10-95	A	T	6: 68,680,622	I21F	probably damaging	Het
Il10rb	C	A	16: 91,407,715	N51K	possibly damaging	Het
Krt78	T	C	15: 101,947,940	T479A	probably benign	Het
Lrig3	T	C	10: 126,013,404	S998P	probably benign	Het
Lrrc8c	T	A	5: 105,607,889	M510K	probably benign	Het
Nfrkb	G	T	9: 31,399,962	C369F	probably damaging	Het
Nphp1	T	C	2: 127,788,799	E19G	possibly damaging	Het
Olfr1307	T	C	2: 111,945,189	H89R	probably benign	Het
Olfr713	A	C	7: 107,036,491	E112A	probably damaging	Het
Ovol3	A	T	7: 30,235,364		probably null	Het
Ppp1r16b	C	T	2: 158,757,254	T382I	probably benign	Het
Rims2	T	C	15: 39,437,924		probably null	Het
Sh3rf3	T	C	10: 59,083,576	V505A	probably benign	Het
Shkbp1	T	C	7: 27,343,302	N570S	probably benign	Het
Slc35f4	C	T	14: 49,318,850	V149I	possibly damaging	Het
Snx27	A	G	3: 94,562,023	F4L	probably benign	Het
Syvn1	C	T	19: 6,049,921		probably benign	Het
Tagap1	G	A	17: 6,956,112	S395L	probably benign	Het
Tek	A	G	4: 94,863,667	T1014A	probably damaging	Het
Top2a	A	G	11: 99,001,405	I1077T	probably benign	Het
Tpo	T	C	12: 30,104,016	Y230C	probably damaging	Het
Trav12-2	A	G	14: 53,616,875	Q102R	possibly damaging	Het
Ttn	G	A	2: 76,903,086		probably benign	Het
Vmn1r183	A	T	7: 24,055,548	I259F	probably benign	Het
Vsig8	G	T	1: 172,563,147	G254V	probably damaging	Het
Vwa8	A	G	14: 79,082,806	I1086V	probably benign	Het
Zfp423	G	A	8: 87,782,973	H123Y	probably damaging	Het
Zfp811	A	T	17: 32,797,547	C506*	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
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
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'- ACCAATTGGGATCATGTGAAAGAGC -3'
(R):5'- ACAAAGTTTATGGGCCTGTCC -3'

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

Posted On

2015-07-07