Mutagenetix > Incidental Mutation

Incidental Mutation 'R1411:Vmn2r117'

200831

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r117

Ensembl Gene

ENSMUSG00000091407

Gene Name

vomeronasal 2, receptor 117

Synonyms

EG619788

MMRRC Submission

039467-MU

Accession Numbers

Essential gene?

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

Stock #

R1411 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23459675-23479597 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23460553 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 566 (N566D)

Ref Sequence

ENSEMBL: ENSMUSP00000126885 (fasta)

Gene Model

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

AlphaFold

K7N6V1

Predicted Effect

probably damaging
Transcript: ENSMUST00000171996
AA Change: N566D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000126885
Gene: ENSMUSG00000091407
AA Change: N566D

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	T	A	8: 71,461,730	I85F	probably damaging	Het
Acp4	A	G	7: 44,256,843		probably benign	Het
Baz1b	T	C	5: 135,230,323	F1080L	possibly damaging	Het
Cbx5	A	T	15: 103,213,120	M30K	probably benign	Het
Cdc73	A	G	1: 143,609,514		probably benign	Het
Cdcp1	A	T	9: 123,190,112	L34Q	probably damaging	Het
Chd8	C	T	14: 52,224,646	V738I	probably benign	Het
Cpeb2	T	G	5: 43,233,770		probably benign	Het
Cyp2c67	T	A	19: 39,638,591	D265V	probably damaging	Het
Cyp2j11	A	G	4: 96,345,216	I81T	probably benign	Het
Dbx2	T	C	15: 95,632,381	E235G	probably damaging	Het
Dgkq	C	A	5: 108,650,362	V677F	probably damaging	Het
Ercc5	A	G	1: 44,178,281	N928S	probably damaging	Het
Flt1	C	T	5: 147,580,316	V1054M	probably damaging	Het
Flywch1	T	C	17: 23,755,824	D614G	probably damaging	Het
Frmd3	T	C	4: 74,153,621	F247L	probably damaging	Het
Gm1527	A	G	3: 28,914,483	N228S	probably benign	Het
Gm8979	C	T	7: 106,083,479	A190T	probably benign	Het
Gpld1	T	A	13: 24,962,808	L251Q	probably damaging	Het
Gzma	C	T	13: 113,096,208	V117I	probably benign	Het
Hydin	C	A	8: 110,575,031	T3798K	probably benign	Het
Il1rapl1	T	A	X: 86,747,298	S679C	possibly damaging	Het
Lrrc8c	G	A	5: 105,608,179	A607T	probably damaging	Het
Ltbp1	A	G	17: 75,225,285	Q118R	possibly damaging	Het
Mfsd4b4	A	T	10: 39,892,140	M319K	probably damaging	Het
Mroh2b	A	C	15: 4,918,317	H538P	probably damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Nup188	A	G	2: 30,343,795	T1733A	probably benign	Het
Nupl1	A	T	14: 60,244,670		probably benign	Het
Ofcc1	A	G	13: 40,142,787	S524P	probably benign	Het
Olfr986	C	T	9: 40,187,139	T8I	possibly damaging	Het
Padi4	C	T	4: 140,752,603	S413N	probably damaging	Het
Pdzrn4	A	G	15: 92,771,013	*1015W	probably null	Het
Pkhd1	G	A	1: 20,373,896	P2314L	probably damaging	Het
Serpinb9c	C	G	13: 33,151,834	V212L	probably benign	Het
Slc25a23	A	G	17: 57,059,622	F18L	probably damaging	Het
Smarca4	C	A	9: 21,658,955	N751K	probably damaging	Het
Tfip11	G	T	5: 112,333,033	V292L	probably benign	Het
Tnrc18	T	C	5: 142,765,947	K1201R	unknown	Het
Vmn1r199	T	C	13: 22,383,501	F322L	probably benign	Het
Vmn1r201	T	C	13: 22,474,679	V21A	probably benign	Het
Vmn2r108	A	T	17: 20,462,845	I699K	probably damaging	Het
Wdr12	A	T	1: 60,088,072	D141E	probably benign	Het
Zfp974	A	G	7: 27,911,209	S364P	probably benign	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
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
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'- TCCCAATAGCCAGGGTAGCCAA -3'
(R):5'- aaaatgctgaaacaGCAACCAAACTCA -3'

Sequencing Primer
(F):5'- ATCGTTTTAGCCAAGACAGTGG -3'
(R):5'- ACCAAACTCATATGTTGCAAAATTTC -3'

Posted On

2014-05-23