Mutagenetix > Incidental Mutation

Incidental Mutation 'R2973:Vmn2r117'

255302

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r117

Ensembl Gene

ENSMUSG00000091407

Gene Name

vomeronasal 2, receptor 117

Synonyms

EG619788

MMRRC Submission

040526-MU

Accession Numbers

Essential gene?

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

Stock #

R2973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23459675-23479597 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23459856 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 798 (V798A)

Ref Sequence

ENSEMBL: ENSMUSP00000126885 (fasta)

Gene Model

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

AlphaFold

K7N6V1

Predicted Effect

probably damaging
Transcript: ENSMUST00000171996
AA Change: V798A

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

SMART Domains

Protein: ENSMUSP00000126885
Gene: ENSMUSG00000091407
AA Change: V798A

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230104L09Rik	T	C	2: 148,850,786	D32G	probably benign	Het
Abca7	T	G	10: 80,008,967	F1508V	probably damaging	Het
Angptl7	T	A	4: 148,500,214	K26*	probably null	Het
BC048507	T	C	13: 67,863,630	I42T	probably benign	Het
Cald1	A	G	6: 34,757,996		probably benign	Het
Ces5a	A	G	8: 93,528,504	F187S	probably damaging	Het
Chd3	A	G	11: 69,360,616	Y530H	probably damaging	Het
Crnkl1	A	G	2: 145,932,261	L94P	probably benign	Het
Cst9	G	T	2: 148,835,225		probably null	Het
D930007J09Rik	C	T	13: 32,802,759		probably benign	Het
Dcaf10	T	C	4: 45,373,957	S461P	probably benign	Het
Dhx36	T	A	3: 62,495,495	N279Y	probably benign	Het
Dhx36	C	G	3: 62,495,498	G278R	possibly damaging	Het
Doxl2	A	G	6: 48,976,424	T428A	probably benign	Het
Eps8l3	T	C	3: 107,891,328	I510T	probably damaging	Het
Gab2	A	G	7: 97,223,552	E54G	probably benign	Het
Gsdme	A	G	6: 50,229,324	C180R	probably damaging	Het
Hesx1	A	G	14: 27,000,642		probably benign	Het
Il5ra	G	A	6: 106,741,235	P86L	probably benign	Het
Jakmip1	A	G	5: 37,091,527	K177R	probably damaging	Het
Larp4b	T	C	13: 9,166,311		probably benign	Het
Lrrc42	A	T	4: 107,239,114	D40E	probably damaging	Het
Mefv	G	A	16: 3,715,694	R238*	probably null	Het
Mroh9	A	T	1: 163,056,769	M400K	probably damaging	Het
Olfr1164	A	G	2: 88,093,114	L274P	probably benign	Het
Olfr204	A	C	16: 59,315,404	M1R	probably null	Het
Olfr527	T	G	7: 140,336,387	F175C	probably damaging	Het
Plec	C	G	15: 76,188,761	G631R	probably damaging	Het
Polr3b	A	G	10: 84,628,280	K35E	probably benign	Het
Ppef2	T	C	5: 92,239,094	E328G	probably benign	Het
Rogdi	G	T	16: 5,011,662	Q90K	probably damaging	Het
Rtn1	C	A	12: 72,223,389	R116L	probably damaging	Het
Sept14	T	C	5: 129,699,022	H31R	probably benign	Het
Serpinb9e	T	A	13: 33,255,143	V184E	probably benign	Het
Slc10a5	A	T	3: 10,334,457	I381N	probably damaging	Het
Slit1	G	A	19: 41,611,016	P1032L	probably benign	Het
Sptlc3	A	G	2: 139,589,661	T368A	probably damaging	Het
Tm9sf1	T	A	14: 55,641,114	T274S	probably benign	Het
Tpgs1	A	G	10: 79,669,615	E69G	probably damaging	Het
Trpv5	T	C	6: 41,653,231	S642G	possibly damaging	Het
Ttn	A	C	2: 76,802,317	I12385S	probably damaging	Het
Ube2e2	T	C	14: 18,630,321	D137G	possibly damaging	Het
Ubr4	T	C	4: 139,406,536	Y748H	probably benign	Het
Ugt8a	T	C	3: 125,915,308	H51R	probably benign	Het
Vcp	T	A	4: 42,996,315	I16F	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
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'- TGAGCATTGGAAGATGATTTCACCC -3'
(R):5'- AGTCTGGCTGAGAGCTTCTC -3'

Sequencing Primer
(F):5'- TGGAAGATGATTTCACCCTGATC -3'
(R):5'- TGCACATTCTGAGCATGGAC -3'

Posted On

2014-12-29