Mutagenetix > Incidental Mutations

Incidental Mutation 'R7629:Vmn1r72'

589545

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r72

Ensembl Gene

ENSMUSG00000095430

Gene Name

vomeronasal 1 receptor 72

Synonyms

V1rg1

Accession Numbers

Genbank: NM_145843; MGI: 2182256

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R7629 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11664479-11680147 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11669784 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 246 (I246V)

Ref Sequence

ENSEMBL: ENSMUSP00000148081 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053134] [ENSMUST00000209638] [ENSMUST00000227010]

AlphaFold

Q8K3N7

Predicted Effect

probably benign
Transcript: ENSMUST00000053134
AA Change: I246V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000052997
Gene: ENSMUSG00000095430
AA Change: I246V

Domain	Start	End	E-Value	Type
Pfam:TAS2R	1	305	1.8e-9	PFAM
Pfam:V1R	25	300	6.7e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209638
AA Change: I246V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000227010
AA Change: I246V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	G	A	16: 88,707,405	T168I	probably benign	Het
2410089E03Rik	C	T	15: 8,227,067	Q2004*	probably null	Het
Abtb2	T	A	2: 103,683,493		probably null	Het
Ankrd10	A	T	8: 11,615,769	V277E	probably benign	Het
Ankrd28	C	T	14: 31,715,264	V615I	probably benign	Het
Aqr	G	A	2: 114,114,593	P1079L	probably damaging	Het
Brox	G	A	1: 183,292,504	A60V	probably damaging	Het
Copg1	T	C	6: 87,894,169	V289A	possibly damaging	Het
Cyhr1	C	T	15: 76,648,186	D241N	probably benign	Het
D430042O09Rik	T	C	7: 125,795,250	L192P	probably damaging	Het
Dido1	T	C	2: 180,661,473	N1546S	probably benign	Het
Dlg5	G	A	14: 24,245,212	P80L	probably damaging	Het
Dmxl1	T	A	18: 49,859,270	I361N	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fhod3	T	A	18: 24,754,317	D88E	probably benign	Het
Flywch1	A	G	17: 23,755,770	M632T	probably benign	Het
Henmt1	A	G	3: 108,958,597	T213A	probably benign	Het
Itga9	T	C	9: 118,698,446	V555A	probably benign	Het
Kif13b	C	T	14: 64,779,335	R1317*	probably null	Het
Kndc1	A	T	7: 139,895,260	E25V	probably damaging	Het
Lingo2	T	A	4: 35,708,675	D435V	possibly damaging	Het
Lrrc14b	T	A	13: 74,361,164	M375L	probably benign	Het
Lrrtm2	T	C	18: 35,214,257		probably null	Het
Mgat4c	G	A	10: 102,389,070	V382I	probably benign	Het
Mpp6	T	C	6: 50,196,623	I489T	probably benign	Het
Muc16	T	C	9: 18,566,785	T7075A	possibly damaging	Het
Myo5b	T	A	18: 74,627,254		probably null	Het
Neb	T	C	2: 52,273,961	D1995G	possibly damaging	Het
Nudt9	T	C	5: 104,050,694	V75A	possibly damaging	Het
Olfr1277	C	T	2: 111,269,876	V164I	probably benign	Het
Paf1	T	C	7: 28,395,068	Y35H	probably damaging	Het
Panx3	T	A	9: 37,661,444	Q270L	possibly damaging	Het
Pde6h	G	T	6: 136,959,319	R20L	possibly damaging	Het
Pdxk	A	G	10: 78,445,006	I200T	probably benign	Het
Ppara	A	T	15: 85,798,191	M363L	probably damaging	Het
Prmt8	A	T	6: 127,689,883	L376*	probably null	Het
Serpina1a	G	C	12: 103,853,808	T393R	probably damaging	Het
Sfxn1	C	T	13: 54,093,022	R178C	probably damaging	Het
Sirpb1c	A	T	3: 15,848,395	W7R	possibly damaging	Het
Skint5	T	C	4: 113,942,660	Y104C	probably damaging	Het
Slamf6	A	T	1: 171,936,624	T195S	probably damaging	Het
Slc2a6	T	C	2: 27,024,202	D301G	probably benign	Het
Stab2	A	T	10: 86,883,782		probably null	Het
Tctn3	C	G	19: 40,611,336	D141H	probably damaging	Het
Tnik	A	G	3: 28,661,728	N1164D	probably damaging	Het
Tpcn1	C	T	5: 120,537,937	V711I	probably benign	Het
Trim11	G	A	11: 58,978,334	G32D	probably damaging	Het
Usp32	TTTGGTTG	TTTG	11: 85,019,855		probably null	Het
Zfp362	G	T	4: 128,786,055	R273S	probably damaging	Het
Zfp715	T	C	7: 43,301,676	D66G	possibly damaging	Het

Other mutations in Vmn1r72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Vmn1r72	APN	7	11670497	missense	probably benign	0.41
IGL02375:Vmn1r72	APN	7	11669745	missense	probably benign	0.10
IGL02809:Vmn1r72	APN	7	11670003	missense	probably benign	0.03
IGL03104:Vmn1r72	APN	7	11669885	missense	probably damaging	1.00
3-1:Vmn1r72	UTSW	7	11669898	missense	probably damaging	0.97
IGL03014:Vmn1r72	UTSW	7	11669784	missense	possibly damaging	0.80
R0346:Vmn1r72	UTSW	7	11669694	missense	probably benign
R0524:Vmn1r72	UTSW	7	11669792	missense	probably benign	0.32
R1951:Vmn1r72	UTSW	7	11669804	missense	probably damaging	1.00
R1953:Vmn1r72	UTSW	7	11669804	missense	probably damaging	1.00
R2181:Vmn1r72	UTSW	7	11669668	nonsense	probably null
R4182:Vmn1r72	UTSW	7	11670068	missense	probably benign	0.00
R4345:Vmn1r72	UTSW	7	11670036	missense	possibly damaging	0.86
R4496:Vmn1r72	UTSW	7	11669864	missense	probably damaging	1.00
R4999:Vmn1r72	UTSW	7	11670373	missense	possibly damaging	0.63
R5401:Vmn1r72	UTSW	7	11669916	missense	probably damaging	1.00
R5700:Vmn1r72	UTSW	7	11670423	missense	probably damaging	0.98
R5754:Vmn1r72	UTSW	7	11669849	missense	probably damaging	0.99
R6292:Vmn1r72	UTSW	7	11669652	missense	probably benign	0.02
R6439:Vmn1r72	UTSW	7	11679137	splice site	probably null
R7616:Vmn1r72	UTSW	7	11670345	missense	probably damaging	0.96
R7737:Vmn1r72	UTSW	7	11669707	missense	probably damaging	0.98
R7819:Vmn1r72	UTSW	7	11669625	missense	probably benign	0.01
R8358:Vmn1r72	UTSW	7	11670383	missense	probably damaging	0.99
R8797:Vmn1r72	UTSW	7	11670038	missense	probably benign
R8848:Vmn1r72	UTSW	7	11670342	missense	probably damaging	0.98
R8947:Vmn1r72	UTSW	7	11669880	missense	possibly damaging	0.89
R9010:Vmn1r72	UTSW	7	11670218	missense	possibly damaging	0.89
R9165:Vmn1r72	UTSW	7	11679024	intron	probably benign
X0063:Vmn1r72	UTSW	7	11669712	missense	probably benign	0.00
Z1088:Vmn1r72	UTSW	7	11670173	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACATCCGCTCTGTGTGTATGTG -3'
(R):5'- ATGCTTCTCTGATGGACTGTGC -3'

Sequencing Primer
(F):5'- TGACAAACTTGGAGGAAGCTATCTC -3'
(R):5'- CTTGGGTCTCATGGCCTGC -3'

Posted On

2019-10-24