Mutagenetix > Incidental Mutation

Incidental Mutation 'R0315:Vmn2r117'

66445

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r117

Ensembl Gene

ENSMUSG00000091407

Gene Name

vomeronasal 2, receptor 117

Synonyms

EG619788

MMRRC Submission

038525-MU

Accession Numbers

Essential gene?

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

Stock #

R0315 (G1)

Quality Score

138

Status

Validated

Chromosome

Chromosomal Location

23459675-23479597 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23460165 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 695 (S695L)

Ref Sequence

ENSEMBL: ENSMUSP00000126885 (fasta)

Gene Model

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

AlphaFold

K7N6V1

Predicted Effect

probably benign
Transcript: ENSMUST00000171996
AA Change: S695L

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126885
Gene: ENSMUSG00000091407
AA Change: S695L

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

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.9%
20x: 88.9%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	A	17: 45,515,452	R409Q	possibly damaging	Het
Ank3	A	T	10: 70,002,517	Q825L	probably damaging	Het
Ap1g1	A	G	8: 109,819,035	I107V	probably benign	Het
Bub1b	A	T	2: 118,626,976		probably benign	Het
Cd86	C	T	16: 36,620,944	V54I	possibly damaging	Het
Dpys	T	G	15: 39,857,338	I9L	probably benign	Het
Fbxl17	G	A	17: 63,356,851	R67C	probably damaging	Het
Flg2	G	T	3: 93,214,722	G1400C	unknown	Het
Gm28042	T	C	2: 120,039,057	L634P	probably damaging	Het
Gm6712	G	A	17: 17,316,118		noncoding transcript	Het
Gpbp1	T	G	13: 111,436,538	E360A	possibly damaging	Het
Hmgn1	A	C	16: 96,124,817	I52R	probably benign	Het
Ing2	A	C	8: 47,669,090	M141R	probably benign	Het
Klhl2	A	T	8: 64,743,019	Y563*	probably null	Het
Lrrc9	A	G	12: 72,456,028	T258A	probably damaging	Het
Map1b	A	T	13: 99,431,116	I1699N	unknown	Het
Map2k5	A	T	9: 63,303,151	H185Q	probably damaging	Het
Mpv17l	A	T	16: 13,940,999	I96L	probably benign	Het
Mroh1	C	T	15: 76,427,600	A511V	possibly damaging	Het
Nop53	T	C	7: 15,945,310	D90G	probably damaging	Het
Olfr1153	A	T	2: 87,897,066	Y289F	probably damaging	Het
Olfr1447	A	T	19: 12,901,234	V182D	possibly damaging	Het
Olfr370	T	C	8: 83,541,372	V76A	possibly damaging	Het
Olfr799	T	A	10: 129,647,497	I123N	probably damaging	Het
Pkd2	T	A	5: 104,459,850	S72T	possibly damaging	Het
Prc1	T	C	7: 80,313,536	S587P	probably damaging	Het
Rdh7	G	T	10: 127,888,396	T73K	possibly damaging	Het
Runx1	T	C	16: 92,605,767	N429S	probably damaging	Het
Skint7	G	A	4: 111,988,118	A376T	possibly damaging	Het
Slc16a14	T	C	1: 84,912,496	I363V	possibly damaging	Het
Smarcal1	C	T	1: 72,595,811	Q350*	probably null	Het
Soat1	T	A	1: 156,440,513	K275*	probably null	Het
Speg	T	C	1: 75,415,136	V1571A	possibly damaging	Het
Stat5b	G	C	11: 100,788,460	D605E	probably benign	Het
Susd4	G	A	1: 182,858,512	R209H	probably benign	Het
Tlr1	T	G	5: 64,926,928	D102A	probably damaging	Het
Tm4sf5	A	G	11: 70,510,636	N154D	probably damaging	Het
Tmigd3	T	A	3: 105,916,769	M18K	probably damaging	Het
Ube2h	A	T	6: 30,241,413	V86E	probably damaging	Het
Utp20	A	G	10: 88,807,421	L613P	probably damaging	Het
Washc5	T	C	15: 59,341,976	D427G	probably damaging	Het
Zfp462	T	A	4: 55,079,314	F2403I	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
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
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

Posted On

2013-08-19