Mutagenetix > Incidental Mutation

Incidental Mutation 'R7260:Vmn2r117'

564577

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r117

Ensembl Gene

ENSMUSG00000091407

Gene Name

vomeronasal 2, receptor 117

Synonyms

EG619788

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7260 (G1)

Quality Score

122.008

Status

Validated

Chromosome

Chromosomal Location

23459675-23479597 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23475385 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 496 (H496L)

Ref Sequence

ENSEMBL: ENSMUSP00000126885 (fasta)

Gene Model

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

AlphaFold

K7N6V1

Predicted Effect

probably benign
Transcript: ENSMUST00000171996
AA Change: H496L

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126885
Gene: ENSMUSG00000091407
AA Change: H496L

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (78/80)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	G	10: 28,973,886	S293P	probably benign	Het
Actn2	T	C	13: 12,276,490	N676S	probably benign	Het
Amfr	C	T	8: 93,976,148	M463I	possibly damaging	Het
Ankdd1a	G	T	9: 65,504,552	A325D	probably damaging	Het
Apba2	A	G	7: 64,739,745	D463G	probably damaging	Het
Arid5b	A	G	10: 68,097,807	V755A	probably damaging	Het
Boc	A	T	16: 44,490,170	F796I		Het
Ccnt1	G	A	15: 98,565,124	Q56*	probably null	Het
Cd248	T	A	19: 5,069,355	Y410*	probably null	Het
Chd9	T	A	8: 90,994,543	N986K	unknown	Het
Col6a6	T	C	9: 105,783,969	T314A	probably benign	Het
Cpped1	A	G	16: 11,828,463	F142L	possibly damaging	Het
Csmd1	C	T	8: 16,000,574	A2221T	probably damaging	Het
Cyp2c69	C	A	19: 39,842,900	V490L	probably benign	Het
Dcst2	T	C	3: 89,366,286	F157S	probably damaging	Het
Ddx54	G	T	5: 120,626,920	R788L	probably benign	Het
Dnah1	T	C	14: 31,269,386	Y3145C	probably damaging	Het
Dnah14	A	T	1: 181,706,744	R2320W	probably damaging	Het
E130309D02Rik	A	G	5: 143,311,839	V151A	probably benign	Het
Emilin2	T	C	17: 71,274,790	T314A	probably benign	Het
Eml2	A	G	7: 19,200,590	S405G	probably benign	Het
Ephb2	A	G	4: 136,771,574	F65L	probably damaging	Het
Fam49b	A	T	15: 63,957,589	F23L	possibly damaging	Het
Fbn2	T	C	18: 58,066,116	D1360G	probably benign	Het
Fbxo22	A	G	9: 55,218,470	T206A	probably benign	Het
Filip1l	A	G	16: 57,570,924	E625G	probably damaging	Het
Gen1	A	C	12: 11,256,848	M172R	probably damaging	Het
Gk5	A	G	9: 96,119,610	K54E	probably benign	Het
Glis3	T	C	19: 28,531,402	E394G	probably benign	Het
Gm16486	T	C	8: 70,708,748	Y197H	probably benign	Het
Helq	T	A	5: 100,791,927	E373D	probably damaging	Het
Ighv1-74	A	G	12: 115,802,752	F83L	probably benign	Het
Kdm4d	T	C	9: 14,463,158	D468G	probably benign	Het
Kif20b	A	G	19: 34,950,210	I957M	probably damaging	Het
Ldhal6b	A	G	17: 5,418,260	F133S	possibly damaging	Het
Loxhd1	T	C	18: 77,332,642	Y321H	possibly damaging	Het
Ltbp1	A	T	17: 75,066,144	M261L	probably benign	Het
Mical2	A	T	7: 112,319,794	Q430L	probably benign	Het
Mroh4	A	T	15: 74,608,129	N885K	possibly damaging	Het
Ms4a7	A	G	19: 11,322,346	Y231H	probably damaging	Het
Msh2	G	T	17: 87,717,619	V642F	probably damaging	Het
Muc5b	G	T	7: 141,842,648	A166S	unknown	Het
Myo18b	T	C	5: 112,775,288	I1868V	probably benign	Het
Nfatc3	T	C	8: 106,108,946	S975P	probably benign	Het
Oacyl	T	C	18: 65,698,367	L25P	probably damaging	Het
Olfr1138	T	C	2: 87,738,508		probably null	Het
Olfr1145	A	G	2: 87,810,387	N189S	probably damaging	Het
Olfr1463	T	C	19: 13,235,024	F258S	probably damaging	Het
Olfr151	T	A	9: 37,730,753	I77F	probably damaging	Het
Olfr816	T	A	10: 129,912,287		probably benign	Het
Patj	A	G	4: 98,416,733	I275V	possibly damaging	Het
Pdcd11	G	A	19: 47,129,234	R1674Q	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Phkb	T	A	8: 85,878,130	Y55N	probably benign	Het
Pias4	A	G	10: 81,157,468	V207A	possibly damaging	Het
Plxna4	C	A	6: 32,239,520	R540L	possibly damaging	Het
Psapl1	G	A	5: 36,205,212	V383M	probably benign	Het
Rars	C	A	11: 35,834,454	A10S	probably benign	Het
Rhobtb1	A	T	10: 69,270,780	K454*	probably null	Het
Rmnd1	A	T	10: 4,414,803		probably null	Het
Rnf213	A	G	11: 119,452,575	I3589V		Het
Rngtt	T	C	4: 33,356,176	S338P	possibly damaging	Het
Sh3bgr	A	G	16: 96,224,481	E189G	unknown	Het
Slc30a3	G	A	5: 31,088,346	T281I	probably damaging	Het
Smok3c	T	A	5: 138,065,623	D457E	possibly damaging	Het
Stard9	C	A	2: 120,706,938	Q4274K	possibly damaging	Het
Syne2	G	T	12: 75,945,079	L1938F	probably damaging	Het
Tmem70	C	A	1: 16,665,366	T20K	possibly damaging	Het
Tnrc6a	A	G	7: 123,186,590	E1502G	probably benign	Het
Tpp1	A	T	7: 105,747,497	S438T	probably benign	Het
Tubb2a	T	A	13: 34,075,414	Q131L	probably damaging	Het
Ube2v1	A	G	2: 167,629,194	S26P	probably benign	Het
Unc13a	G	T	8: 71,660,585	S207R	possibly damaging	Het
Usp35	T	G	7: 97,320,079	D362A	probably damaging	Het
Utp20	A	G	10: 88,751,472	I2487T	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r92	C	T	17: 18,166,876	A159V	probably damaging	Het
Wdr63	T	A	3: 146,046,540	M794L	probably benign	Het
Wiz	T	C	17: 32,359,111	K467E	probably damaging	Het
Zfp534	T	C	4: 147,675,004	T403A	probably benign	Het
Zswim5	T	C	4: 116,962,646	L416P	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
R6520:Vmn2r117	UTSW	17	23460219	missense	probably damaging	0.99
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
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'- GTCATAAGATGGAAACTCACTCTG -3'
(R):5'- TGAGAAAGACCCAGTTCACTAATC -3'

Sequencing Primer
(F):5'- CCTCAATGAATTACTAAAAAGGGACG -3'
(R):5'- AAGACCCAGTTCACTAATCCTGTTGG -3'

Posted On

2019-06-26