Mutagenetix > Incidental Mutation

Incidental Mutation 'R6305:Vmn1r120'

509587

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r120

Ensembl Gene

ENSMUSG00000093986

Gene Name

vomeronasal 1 receptor 120

Synonyms

Gm5730

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R6305 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21052867-21053784 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21053606 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 60 (V60E)

Ref Sequence

ENSEMBL: ENSMUSP00000100837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105202]

AlphaFold

K7N6J6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105202
AA Change: V60E

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100837
Gene: ENSMUSG00000093986
AA Change: V60E

Domain	Start	End	E-Value	Type
Pfam:TAS2R	8	297	2.3e-15	PFAM
Pfam:7tm_1	31	286	3.6e-6	PFAM
Pfam:V1R	41	296	6.4e-13	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,067,980	S977P	probably damaging	Het
Abraxas2	G	A	7: 132,874,965	A145T	probably damaging	Het
Adcy6	T	A	15: 98,598,645	I550L	probably benign	Het
Agbl3	G	A	6: 34,782,210	D19N	unknown	Het
Ankdd1a	C	T	9: 65,508,061	A227T	possibly damaging	Het
Arhgap39	T	A	15: 76,737,702	D233V	probably benign	Het
Bcl9	G	A	3: 97,205,938	P1067L	possibly damaging	Het
C130060K24Rik	A	T	6: 65,454,991	M293L	probably benign	Het
Casd1	C	T	6: 4,641,892	T723I	probably damaging	Het
Cd209g	T	A	8: 4,136,809	I118N	probably benign	Het
Cdh24	A	T	14: 54,632,356	D701E	possibly damaging	Het
Chd9	C	T	8: 91,030,546	P1858S	possibly damaging	Het
Csnk1g3	T	A	18: 53,932,312	Y322*	probably null	Het
Cyp2f2	G	A	7: 27,129,224	R173H	probably damaging	Het
D130043K22Rik	T	C	13: 24,885,685	F909S	probably damaging	Het
Dll4	T	A	2: 119,330,657	S299T	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dsg4	T	A	18: 20,449,790	Y162N	probably damaging	Het
Enpp1	T	C	10: 24,641,882	Y882C	probably damaging	Het
Fam129a	T	C	1: 151,695,718	L248P	probably damaging	Het
Fbxw7	T	A	3: 84,976,323	N520K	probably damaging	Het
Galc	C	T	12: 98,259,290	A14T	possibly damaging	Het
Gm11492	C	T	11: 87,567,319	T173M	probably benign	Het
Grm7	G	A	6: 111,358,665	R679Q	probably damaging	Het
Hnrnpdl	T	C	5: 100,038,658		probably benign	Het
Il12a	A	T	3: 68,694,178	K77N	possibly damaging	Het
Il17rd	C	T	14: 27,095,942	S196L	possibly damaging	Het
Kcnv2	T	C	19: 27,323,837	F363L	probably benign	Het
Lair1	A	G	7: 4,010,728		probably null	Het
Lrit3	G	A	3: 129,800,460	T156I	probably damaging	Het
Me2	T	A	18: 73,791,844	R267S	probably benign	Het
Mga	T	C	2: 119,947,698	V1908A	probably benign	Het
Mylk3	T	A	8: 85,350,419	I463F	probably damaging	Het
Neb	G	A	2: 52,251,763	R75*	probably null	Het
Olfr1080	A	G	2: 86,553,495	S210P	possibly damaging	Het
Olfr339	T	A	2: 36,421,622	S75T	probably damaging	Het
Olfr469	T	G	7: 107,822,657	T271P	probably benign	Het
Olfr516	C	T	7: 108,845,554	G152D	possibly damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Olfr883	TG	TGGTGTTGG	9: 38,026,542		probably null	Het
Pfas	A	G	11: 69,001,197	S162P	possibly damaging	Het
Pip5k1c	T	A	10: 81,315,934	V654E	probably benign	Het
Plxdc1	C	A	11: 97,938,590	C318F	probably damaging	Het
Rbm8a2	T	C	1: 175,978,746	D55G	probably benign	Het
Rexo5	A	T	7: 119,828,125	K419N	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Slc24a4	C	A	12: 102,222,101	T151K	possibly damaging	Het
Slc6a15	A	T	10: 103,389,170	I40F	probably benign	Het
Slc6a21	T	C	7: 45,280,604	V172A	possibly damaging	Het
Thrap3	A	G	4: 126,180,807		probably benign	Het
Tm9sf3	A	G	19: 41,245,442		probably null	Het
Trp53	A	T	11: 69,588,707	H211L	probably damaging	Het
Ttc21b	A	T	2: 66,188,270	N1264K	probably damaging	Het
Ylpm1	A	G	12: 85,030,545	E890G	probably damaging	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het
Zfp934	T	C	13: 62,518,556	Y102C	probably damaging	Het

Other mutations in Vmn1r120

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00474:Vmn1r120	APN	7	21053010	missense	probably benign	0.00
IGL02533:Vmn1r120	APN	7	21053138	missense	probably damaging	1.00
IGL03261:Vmn1r120	APN	7	21053525	missense	probably damaging	1.00
R0539:Vmn1r120	UTSW	7	21053472	missense	probably damaging	0.99
R0973:Vmn1r120	UTSW	7	21053016	missense	probably damaging	1.00
R1831:Vmn1r120	UTSW	7	21053631	missense	probably benign
R2034:Vmn1r120	UTSW	7	21052958	missense	possibly damaging	0.56
R2149:Vmn1r120	UTSW	7	21052964	missense	probably damaging	0.98
R3437:Vmn1r120	UTSW	7	21053657	missense	probably damaging	1.00
R5449:Vmn1r120	UTSW	7	21053149	missense	possibly damaging	0.53
R5548:Vmn1r120	UTSW	7	21053557	missense	probably benign	0.01
R5730:Vmn1r120	UTSW	7	21053009	missense	possibly damaging	0.80
R7348:Vmn1r120	UTSW	7	21053452	missense	probably damaging	1.00
R8435:Vmn1r120	UTSW	7	21053632	missense	probably benign	0.44
R8486:Vmn1r120	UTSW	7	21053102	missense	probably benign
R9613:Vmn1r120	UTSW	7	21053121	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATTTGGGACACTAGCTCTGAG -3'
(R):5'- GTCTGATCATGCTAAATCCCTGAAAAG -3'

Sequencing Primer
(F):5'- TTGGGACACTAGCTCTGAGTATAAG -3'
(R):5'- ATCCCTGAAAAGCACTGAGG -3'

Posted On

2018-04-02