Mutagenetix > Incidental Mutation

Incidental Mutation 'R6520:Vmn2r117'

521221

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r117

Ensembl Gene

ENSMUSG00000091407

Gene Name

vomeronasal 2, receptor 117

Synonyms

EG619788

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R6520 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23459675-23479597 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23460219 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 677 (V677D)

Ref Sequence

ENSEMBL: ENSMUSP00000126885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171996]

AlphaFold

K7N6V1

Predicted Effect

probably damaging
Transcript: ENSMUST00000171996
AA Change: V677D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126885
Gene: ENSMUSG00000091407
AA Change: V677D

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	471	2.6e-28	PFAM
Pfam:NCD3G	512	565	5e-20	PFAM
Pfam:7tm_3	595	833	8.2e-54	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037H04Rik	G	T	2: 131,147,254	H111N	probably damaging	Het
1700093K21Rik	T	C	11: 23,517,285	D116G	possibly damaging	Het
Adam22	C	T	5: 8,116,635	V699M	probably damaging	Het
Adh7	A	G	3: 138,224,010	Y149C	probably damaging	Het
Angptl3	A	C	4: 99,037,848	N405T	probably benign	Het
Ank3	A	G	10: 69,988,387	H180R	probably damaging	Het
Apob	T	A	12: 7,983,124	I159N	probably damaging	Het
Arhgap24	T	C	5: 102,880,793	V185A	probably benign	Het
Atf6	A	T	1: 170,867,669	H11Q	probably benign	Het
Atxn3	C	A	12: 101,934,401	D208Y	probably damaging	Het
Brd9	G	A	13: 73,942,794	R273K	probably benign	Het
Cbfa2t3	T	A	8: 122,635,801	R302W	probably benign	Het
Ccdc175	C	A	12: 72,140,030	G347C	probably damaging	Het
Ccdc87	A	G	19: 4,841,789	K770E	probably damaging	Het
Ccl17	T	C	8: 94,810,550	F27L	probably benign	Het
Cd3g	A	T	9: 44,971,315		probably null	Het
Cep350	A	G	1: 155,933,336	V498A	probably benign	Het
Cfap45	A	G	1: 172,540,584	D381G	probably damaging	Het
Cfap46	A	G	7: 139,614,405		probably null	Het
Cnrip1	T	A	11: 17,078,536	M156K	probably damaging	Het
Col23a1	T	C	11: 51,549,725		probably null	Het
Col4a1	C	T	8: 11,219,152	G933S	probably damaging	Het
Col5a3	C	T	9: 20,774,052	V1443I	unknown	Het
Col6a6	T	C	9: 105,785,825	E171G	possibly damaging	Het
Dennd1a	A	T	2: 37,961,747		probably null	Het
Dlk2	C	T	17: 46,302,512	T188I	probably damaging	Het
Dusp8	A	G	7: 142,083,681	I203T	probably damaging	Het
Eno2	C	T	6: 124,767,715	R56H	probably damaging	Het
Erich3	A	T	3: 154,763,465	T1185S	probably damaging	Het
Evi5l	A	T	8: 4,205,906	Q575L	possibly damaging	Het
Fam187a	T	A	11: 102,885,875	H168Q	possibly damaging	Het
Fat2	T	A	11: 55,284,988	E1633V	probably damaging	Het
Fbln2	G	A	6: 91,259,659	D719N	probably damaging	Het
Fbn2	A	T	18: 58,102,390	S672T	probably damaging	Het
Gas8	C	G	8: 123,526,474	A187G	probably benign	Het
Gm2696	G	A	10: 77,836,498		probably benign	Het
Gnl1	A	T	17: 35,982,953	K272M	probably benign	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Hemgn	T	G	4: 46,396,466	K257Q	probably damaging	Het
Hgsnat	T	C	8: 25,953,300	Y474C	probably damaging	Het
Hoxc4	T	C	15: 103,034,954	S78P	probably benign	Het
Igkv14-100	T	A	6: 68,519,234	L37Q	probably damaging	Het
Iqck	A	T	7: 118,941,631	K251M	probably damaging	Het
Itgal	A	T	7: 127,330,331	Q1140L	probably benign	Het
Itpka	A	G	2: 119,750,778	R431G	probably benign	Het
Jade1	A	G	3: 41,604,482	N333D	possibly damaging	Het
Jmjd7	A	G	2: 120,031,319	H181R	probably damaging	Het
Jmy	A	G	13: 93,454,039	S519P	probably benign	Het
Klra10	T	A	6: 130,275,792	H173L	probably benign	Het
Krt72	T	G	15: 101,781,046	I284L	probably benign	Het
Krt78	C	A	15: 101,951,771	V237F	probably benign	Het
Mapkapk3	G	A	9: 107,257,449	T296M	probably damaging	Het
Mcmbp	A	C	7: 128,712,727	V255G	possibly damaging	Het
Mcoln1	T	G	8: 3,505,855	M50R	probably damaging	Het
Mocos	T	A	18: 24,666,390	V227E	probably benign	Het
Mpeg1	A	G	19: 12,461,958	E260G	probably benign	Het
Mrc1	A	T	2: 14,307,949	N894I	probably damaging	Het
Mroh7	A	G	4: 106,721,263	S73P	probably benign	Het
Myo3a	A	T	2: 22,399,926	I690L	possibly damaging	Het
Naa50	T	G	16: 44,159,509	F87V	probably damaging	Het
Ndufs6	G	T	13: 73,328,352	T32K	probably damaging	Het
Nfe2l2	A	G	2: 75,676,568	V396A	probably benign	Het
Nptn	A	G	9: 58,643,734	E348G	probably damaging	Het
Nsun4	A	T	4: 116,044,738	L177Q	probably damaging	Het
Olfr1083-ps	A	G	2: 86,607,118	L151P	unknown	Het
Olfr504	A	G	7: 108,564,839	*319Q	probably null	Het
Olfr974	T	C	9: 39,942,362	I34T	possibly damaging	Het
Plekha7	A	G	7: 116,164,482	V233A	probably benign	Het
Polq	C	A	16: 37,060,377	Q968K	possibly damaging	Het
Prmt7	C	T	8: 106,234,884	T143M	probably damaging	Het
Ptprc	G	A	1: 138,080,143	Q886*	probably null	Het
Rbp7	C	A	4: 149,452,914	V36L	possibly damaging	Het
Rev3l	A	T	10: 39,822,702	N1065I	probably benign	Het
Scamp5	A	T	9: 57,447,206		probably null	Het
Sec16a	A	G	2: 26,426,106	S1698P	probably damaging	Het
Spr	C	A	6: 85,137,492	R85L	probably benign	Het
Sptlc2	A	C	12: 87,355,662	N163K	probably benign	Het
Stk10	C	T	11: 32,588,839	T226M	probably damaging	Het
Sv2c	A	G	13: 95,986,721	Y415H	probably benign	Het
Tet1	A	G	10: 62,880,013	M1T	probably null	Het
Tnnt1	T	A	7: 4,509,061	K150*	probably null	Het
Trappc10	C	T	10: 78,201,453	V839M	probably benign	Het
Ubap2	T	C	4: 41,195,155	N1131S	probably damaging	Het
Upk2	T	C	9: 44,453,506	E132G	probably damaging	Het
Vps13a	A	T	19: 16,725,579	L670H	probably damaging	Het
Wwc1	C	T	11: 35,853,437	E853K	probably benign	Het
Zfp512	G	A	5: 31,466,640	R67H	probably damaging	Het
Zfp804b	T	A	5: 6,769,283	H1260L	probably damaging	Het
Zzef1	C	A	11: 72,826,065	N360K	probably damaging	Het

Other mutations in Vmn2r117

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Vmn2r117	APN	17	23477840	missense	probably damaging	1.00
IGL00990:Vmn2r117	APN	17	23475429	missense	probably damaging	1.00
IGL00990:Vmn2r117	APN	17	23479546	missense	probably benign
IGL01078:Vmn2r117	APN	17	23477804	missense	probably damaging	1.00
IGL01139:Vmn2r117	APN	17	23477804	missense	probably damaging	1.00
IGL01374:Vmn2r117	APN	17	23478382	missense	possibly damaging	0.46
IGL01779:Vmn2r117	APN	17	23477241	missense	probably benign	0.00
IGL02283:Vmn2r117	APN	17	23475382	missense	probably damaging	0.99
IGL02527:Vmn2r117	APN	17	23477225	missense	possibly damaging	0.65
IGL02612:Vmn2r117	APN	17	23459784	missense	possibly damaging	0.91
IGL02887:Vmn2r117	APN	17	23475578	splice site	probably benign
IGL03167:Vmn2r117	APN	17	23477707	missense	probably damaging	1.00
R0315:Vmn2r117	UTSW	17	23460165	missense	probably benign	0.11
R0610:Vmn2r117	UTSW	17	23475514	missense	probably benign	0.00
R0747:Vmn2r117	UTSW	17	23475503	nonsense	probably null
R1411:Vmn2r117	UTSW	17	23460553	missense	probably damaging	1.00
R1471:Vmn2r117	UTSW	17	23478473	missense	probably benign	0.00
R1853:Vmn2r117	UTSW	17	23477455	missense	probably damaging	0.99
R1925:Vmn2r117	UTSW	17	23478389	missense	probably benign	0.00
R1940:Vmn2r117	UTSW	17	23477480	missense	probably damaging	1.00
R2005:Vmn2r117	UTSW	17	23477644	missense	probably damaging	1.00
R2082:Vmn2r117	UTSW	17	23460256	missense	possibly damaging	0.55
R2698:Vmn2r117	UTSW	17	23459911	missense	probably damaging	0.98
R2972:Vmn2r117	UTSW	17	23459856	missense	probably damaging	1.00
R2973:Vmn2r117	UTSW	17	23459856	missense	probably damaging	1.00
R2974:Vmn2r117	UTSW	17	23459856	missense	probably damaging	1.00
R3160:Vmn2r117	UTSW	17	23460378	missense	probably damaging	1.00
R3161:Vmn2r117	UTSW	17	23460378	missense	probably damaging	1.00
R3162:Vmn2r117	UTSW	17	23460378	missense	probably damaging	1.00
R3847:Vmn2r117	UTSW	17	23460415	missense	probably damaging	0.97
R3848:Vmn2r117	UTSW	17	23460415	missense	probably damaging	0.97
R4082:Vmn2r117	UTSW	17	23460106	missense	probably benign	0.00
R4320:Vmn2r117	UTSW	17	23479513	frame shift	probably null
R4560:Vmn2r117	UTSW	17	23459877	missense	probably damaging	1.00
R4658:Vmn2r117	UTSW	17	23478416	missense	probably benign	0.01
R4881:Vmn2r117	UTSW	17	23477885	missense	probably damaging	1.00
R4908:Vmn2r117	UTSW	17	23459838	missense	probably damaging	1.00
R4910:Vmn2r117	UTSW	17	23479513	frame shift	probably null
R5078:Vmn2r117	UTSW	17	23460148	missense	probably damaging	1.00
R5327:Vmn2r117	UTSW	17	23477874	nonsense	probably null
R5774:Vmn2r117	UTSW	17	23477202	missense	probably damaging	0.98
R6014:Vmn2r117	UTSW	17	23479561	missense	probably damaging	0.97
R6390:Vmn2r117	UTSW	17	23460114	missense	possibly damaging	0.95
R6674:Vmn2r117	UTSW	17	23460049	nonsense	probably null
R6736:Vmn2r117	UTSW	17	23478308	missense	probably damaging	0.99
R6909:Vmn2r117	UTSW	17	23479505	missense	possibly damaging	0.67
R6913:Vmn2r117	UTSW	17	23479563	missense	probably damaging	0.99
R7220:Vmn2r117	UTSW	17	23477203	missense	probably damaging	1.00
R7260:Vmn2r117	UTSW	17	23475385	missense	probably benign	0.06
R7440:Vmn2r117	UTSW	17	23475565	missense	probably benign	0.26
R7443:Vmn2r117	UTSW	17	23460133	missense	probably benign	0.25
R7443:Vmn2r117	UTSW	17	23460345	missense	probably damaging	1.00
R7449:Vmn2r117	UTSW	17	23459895	missense	probably damaging	1.00
R7644:Vmn2r117	UTSW	17	23477291	missense	probably damaging	0.98
R7914:Vmn2r117	UTSW	17	23460126	missense	possibly damaging	0.95
R8001:Vmn2r117	UTSW	17	23479407	missense	possibly damaging	0.89
R8029:Vmn2r117	UTSW	17	23477770	missense	probably benign	0.00
R8340:Vmn2r117	UTSW	17	23460537	missense	probably benign	0.01
R8519:Vmn2r117	UTSW	17	23479468	missense	probably benign
R8723:Vmn2r117	UTSW	17	23477369	missense	probably damaging	1.00
R8914:Vmn2r117	UTSW	17	23460169	missense	probably benign	0.02
R9010:Vmn2r117	UTSW	17	23460471	missense	probably benign	0.10
R9129:Vmn2r117	UTSW	17	23459944	nonsense	probably null
R9244:Vmn2r117	UTSW	17	23477615	missense	probably damaging	0.98
R9464:Vmn2r117	UTSW	17	23477604	missense	probably benign	0.23
R9620:Vmn2r117	UTSW	17	23478476	missense	probably damaging	0.97
V5622:Vmn2r117	UTSW	17	23477840	missense	probably damaging	1.00
V5622:Vmn2r117	UTSW	17	23479505	missense	possibly damaging	0.67
Z1176:Vmn2r117	UTSW	17	23459766	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCCTTGTGGCATACGATGATG -3'
(R):5'- GTGAAGCACCACAGTACTCC -3'

Sequencing Primer
(F):5'- GCATACGATGATGATCTGTCCATGC -3'
(R):5'- CAGTACTCCAATTGTTAAGGCC -3'

Posted On

2018-06-06