Mutagenetix > Incidental Mutation

Incidental Mutation 'R7443:Vmn2r117'

577126

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r117

Ensembl Gene

ENSMUSG00000091407

Gene Name

vomeronasal 2, receptor 117

Synonyms

EG619788

MMRRC Submission

045519-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R7443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23459675-23479597 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 23460345 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 635 (C635Y)

Ref Sequence

ENSEMBL: ENSMUSP00000126885 (fasta)

Gene Model

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

AlphaFold

K7N6V1

Predicted Effect

probably damaging
Transcript: ENSMUST00000171996
AA Change: C635Y

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

SMART Domains

Protein: ENSMUSP00000126885
Gene: ENSMUSG00000091407
AA Change: C635Y

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700042G07Rik	G	A	4: 116,173,467	G23R	probably benign	Het
Abl2	T	C	1: 156,625,381	I162T	probably damaging	Het
Acaca	G	A	11: 84,315,793	S1493N	probably benign	Het
Arf2	T	A	11: 103,969,150	M18K	probably benign	Het
Bag5	A	G	12: 111,710,727	S221P	probably damaging	Het
Bcr	T	C	10: 75,143,136		probably null	Het
Btg2	T	A	1: 134,077,695	K51*	probably null	Het
C530008M17Rik	T	C	5: 76,856,638	V282A	unknown	Het
Chrne	A	G	11: 70,618,266	V130A	probably benign	Het
Cubn	T	A	2: 13,455,509	D714V	probably damaging	Het
Cyp4a29	A	T	4: 115,248,559	I153F	probably damaging	Het
D730001G18Rik	T	C	15: 74,775,400	E32G		Het
Dph7	C	A	2: 24,962,493	H5Q	probably benign	Het
Epha6	T	C	16: 59,775,625	N901S	possibly damaging	Het
Exosc9	C	A	3: 36,553,841	P66Q	probably damaging	Het
Foxn3	T	C	12: 99,388,779	D42G	possibly damaging	Het
Gbp11	A	G	5: 105,330,950		probably null	Het
Gm3264	A	T	14: 4,871,265	Y37F	probably damaging	Het
Gm4951	A	T	18: 60,246,050	N219I	probably benign	Het
H2-M10.2	T	A	17: 36,286,053	I44F	probably benign	Het
Hemgn	A	T	4: 46,396,145	F364I	probably damaging	Het
Hnf4a	A	G	2: 163,559,012	I184V	probably benign	Het
Ighe	G	T	12: 113,272,165	C180*	probably null	Het
Klk1b22	T	A	7: 44,116,110	I162K	probably benign	Het
Lmo3	C	T	6: 138,377,222	A104T	probably damaging	Het
Lsm14a	A	G	7: 34,353,838	V263A	probably benign	Het
Ltbp1	T	C	17: 75,364,437	Y1538H	probably damaging	Het
Map9	A	G	3: 82,371,356	E221G	possibly damaging	Het
Mccc2	G	A	13: 99,993,636	A71V	possibly damaging	Het
Mdc1	T	A	17: 35,850,820	V875E	probably damaging	Het
Mier2	A	T	10: 79,540,455	I212N	unknown	Het
Mitd1	T	C	1: 37,881,036	T164A	probably benign	Het
Myh1	T	C	11: 67,220,505	I1590T	probably benign	Het
Mylk2	T	G	2: 152,911,426		probably benign	Het
Ncapg	T	A	5: 45,672,310	V118E	probably benign	Het
Nynrin	G	A	14: 55,871,416	V1327I	probably benign	Het
Oas1c	C	A	5: 120,805,419	K218N	probably damaging	Het
Olfr1253	T	A	2: 89,751,941	M296L	probably benign	Het
Olfr154	T	A	2: 85,663,568	I289F	probably damaging	Het
Olfr183	T	A	16: 58,999,990	F102I	probably damaging	Het
Olfr382	A	T	11: 73,516,848	V117D	possibly damaging	Het
Olfr46	A	G	7: 140,611,048	N286S	probably damaging	Het
Olfr739	A	G	14: 50,425,050	D177G	probably damaging	Het
Otoa	A	T	7: 121,132,410	M618L	probably benign	Het
Plcg2	A	T	8: 117,504,289	T37S	probably benign	Het
Plekhg4	T	C	8: 105,380,867	L1010P	probably damaging	Het
Plxnb1	T	C	9: 109,114,607	F1921L	probably damaging	Het
Prss47	T	A	13: 65,049,489	K144N	probably damaging	Het
Rapgef2	T	C	3: 79,081,224	K953E	probably damaging	Het
Rasip1	T	A	7: 45,638,724	I909N	probably damaging	Het
Rps5	A	G	7: 12,922,995	T8A	probably benign	Het
Rsbn1l	T	C	5: 20,927,623	K213E	possibly damaging	Het
Serpinb5	T	C	1: 106,881,970	F369L	probably benign	Het
Slc4a5	T	C	6: 83,264,315	V306A	probably benign	Het
Sox13	C	A	1: 133,384,573	K484N	probably damaging	Het
Sox13	T	C	1: 133,384,631	Y465C	probably damaging	Het
Stx3	A	G	19: 11,791,844	I39T	possibly damaging	Het
Tbc1d5	T	C	17: 50,966,735	Y116C	probably damaging	Het
Tcp11l1	T	A	2: 104,684,135	Q429L	probably benign	Het
Tns3	G	A	11: 8,451,442	T952I	probably benign	Het
Trib3	T	C	2: 152,339,772	H176R	possibly damaging	Het
Trim12a	A	G	7: 104,300,842	Y297H	probably damaging	Het
Unc13a	A	G	8: 71,630,959	V1577A	probably damaging	Het
Vezf1	C	A	11: 88,074,663	P244T	probably damaging	Het
Vmn1r121	T	A	7: 21,098,020	D165V	probably damaging	Het
Vmn2r13	T	A	5: 109,192,043	H22L	probably benign	Het
Vmn2r87	A	T	10: 130,472,719	M550K	probably damaging	Het
Wdr6	A	G	9: 108,574,290	L798P	probably damaging	Het
Wtap	C	T	17: 12,980,934	G54D	probably benign	Het
Zfp827	A	G	8: 79,190,418	S541G		Het
Zkscan3	A	T	13: 21,388,438	Y341*	probably null	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
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
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'- GAAAGTACTTCATCATTCTTTGGGAGG -3'
(R):5'- TGTCTGGAGGACCAATATGCTAAC -3'

Sequencing Primer
(F):5'- AGGCTGTGATTTTGAATGCCAGAAC -3'
(R):5'- TCGTAAAACTGTTGTATTTCTCAGC -3'

Posted On

2019-10-07