Mutagenetix > Incidental Mutation

Incidental Mutation 'R5270:Vmn2r104'

400245

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r104

Ensembl Gene

ENSMUSG00000090315

Gene Name

vomeronasal 2, receptor 104

Synonyms

V2r7

MMRRC Submission

042835-MU

Accession Numbers

Essential gene?

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

Stock #

R5270 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20029425-20048205 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20038266 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 539 (C539S)

Ref Sequence

ENSEMBL: ENSMUSP00000129895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168050]

AlphaFold

E9Q2J5

Predicted Effect

probably damaging
Transcript: ENSMUST00000168050
AA Change: C539S

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

SMART Domains

Protein: ENSMUSP00000129895
Gene: ENSMUSG00000090315
AA Change: C539S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	85	457	4e-38	PFAM
Pfam:NCD3G	512	565	2.1e-20	PFAM
Pfam:7tm_3	598	833	1.7e-52	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,294,218	V585A	possibly damaging	Het
Adam6a	A	T	12: 113,544,127	H40L	possibly damaging	Het
Adamts20	G	A	15: 94,282,519	P1752S	probably benign	Het
Atpif1	A	G	4: 132,533,300	F27L	probably damaging	Het
B230104I21Rik	A	G	4: 154,349,593		probably benign	Het
C77080	T	C	4: 129,224,212	T208A	possibly damaging	Het
Ciz1	C	A	2: 32,374,499		probably null	Het
Crb1	T	A	1: 139,236,864	Y1174F	probably damaging	Het
Csf2rb2	A	T	15: 78,291,982		probably null	Het
Cyp3a25	A	T	5: 145,981,502	M433K	probably benign	Het
D1Ertd622e	T	C	1: 97,645,995	Q115R	probably damaging	Het
Dock4	A	G	12: 40,733,271	I735V	probably benign	Het
Dpp6	C	T	5: 27,634,534	S349L	probably damaging	Het
Epg5	T	A	18: 77,983,563	N1256K	possibly damaging	Het
Epha4	A	G	1: 77,506,607	V255A	probably damaging	Het
Gabrb1	A	T	5: 72,108,326	D155V	probably damaging	Het
Gm13103	A	G	4: 143,851,898	M243V	probably damaging	Het
Gpr35	A	T	1: 92,982,577	T4S	probably benign	Het
Hcrt	T	C	11: 100,761,997	T64A	probably damaging	Het
Henmt1	G	A	3: 108,960,214	R355H	probably benign	Het
Hrh1	C	A	6: 114,481,218	R487S	possibly damaging	Het
Ints2	T	C	11: 86,215,795	S930G	probably damaging	Het
Irs2	G	A	8: 11,006,678	Q585*	probably null	Het
Kcns1	C	A	2: 164,168,329	R170L	probably benign	Het
Kdm3b	T	C	18: 34,827,414	S1351P	probably damaging	Het
Ly9	T	C	1: 171,601,162	T297A	probably damaging	Het
M6pr	G	A	6: 122,315,089	D127N	possibly damaging	Het
Nit2	G	A	16: 57,157,131	P179S	probably damaging	Het
Per1	T	C	11: 69,103,598	M516T	probably benign	Het
Pkdrej	A	T	15: 85,818,327	I1136N	probably damaging	Het
Prdm9	G	T	17: 15,553,363	T257K	probably benign	Het
Prkdc	T	C	16: 15,734,955	L2085P	probably damaging	Het
Rasgrf1	A	C	9: 90,026,694	E1240D	probably benign	Het
Rrh	T	C	3: 129,813,349	I142V	probably benign	Het
Saal1	G	T	7: 46,701,733		probably benign	Het
Sdcbp2	A	G	2: 151,584,892	I70V	probably benign	Het
Skida1	C	A	2: 18,047,649	A231S	probably benign	Het
Smtnl2	T	A	11: 72,399,917	T401S	probably benign	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Spag4	G	T	2: 156,065,933		probably benign	Het
Tbc1d9	A	G	8: 83,233,654	M179V	probably benign	Het
Tm9sf1	G	T	14: 55,636,481	T520N	probably damaging	Het
Tmem163	G	A	1: 127,491,552		probably benign	Het
Vmn1r47	A	T	6: 90,022,543	Q219L	probably damaging	Het
Wdr17	G	T	8: 54,643,186	S1024R	probably benign	Het
Zc3h4	A	G	7: 16,434,515	T850A	unknown	Het
Zfa-ps	A	G	10: 52,543,456		noncoding transcript	Het
Zfp146	G	T	7: 30,162,475	N47K	probably benign	Het
Zfp353-ps	G	T	8: 42,081,535		noncoding transcript	Het
Zfp607a	A	T	7: 27,878,305	K267*	probably null	Het

Other mutations in Vmn2r104

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Vmn2r104	APN	17	20038239	missense	probably damaging	0.98
IGL01098:Vmn2r104	APN	17	20048096	missense	probably benign	0.27
IGL01333:Vmn2r104	APN	17	20042793	missense	probably benign	0.17
IGL01527:Vmn2r104	APN	17	20042896	missense	possibly damaging	0.82
IGL01773:Vmn2r104	APN	17	20040668	missense	probably benign	0.10
IGL01939:Vmn2r104	APN	17	20029925	missense	probably damaging	0.99
IGL02121:Vmn2r104	APN	17	20041794	nonsense	probably null
IGL02305:Vmn2r104	APN	17	20042856	missense	probably benign	0.09
IGL02374:Vmn2r104	APN	17	20042786	missense	probably benign	0.34
IGL03260:Vmn2r104	APN	17	20042821	missense	probably benign	0.05
IGL03366:Vmn2r104	APN	17	20029604	missense	probably damaging	1.00
R0091:Vmn2r104	UTSW	17	20041813	missense	possibly damaging	0.79
R0125:Vmn2r104	UTSW	17	20029807	missense	probably damaging	0.98
R0257:Vmn2r104	UTSW	17	20029627	missense	probably damaging	1.00
R0381:Vmn2r104	UTSW	17	20048002	nonsense	probably null
R0709:Vmn2r104	UTSW	17	20042904	missense	probably damaging	1.00
R0786:Vmn2r104	UTSW	17	20042725	missense	probably benign
R1575:Vmn2r104	UTSW	17	20042215	missense	probably damaging	1.00
R1827:Vmn2r104	UTSW	17	20042235	missense	probably damaging	0.97
R1932:Vmn2r104	UTSW	17	20040769	missense	probably damaging	1.00
R1956:Vmn2r104	UTSW	17	20042051	missense	probably damaging	0.98
R2203:Vmn2r104	UTSW	17	20029821	missense	probably benign	0.05
R2205:Vmn2r104	UTSW	17	20029821	missense	probably benign	0.05
R2859:Vmn2r104	UTSW	17	20048193	missense	possibly damaging	0.82
R3701:Vmn2r104	UTSW	17	20029556	missense	probably damaging	1.00
R3834:Vmn2r104	UTSW	17	20029921	missense	probably benign	0.02
R4151:Vmn2r104	UTSW	17	20029885	missense	probably damaging	1.00
R4470:Vmn2r104	UTSW	17	20042241	missense	probably damaging	1.00
R4625:Vmn2r104	UTSW	17	20048181	missense	probably benign	0.00
R4754:Vmn2r104	UTSW	17	20040768	nonsense	probably null
R4911:Vmn2r104	UTSW	17	20030026	missense	probably benign	0.00
R5279:Vmn2r104	UTSW	17	20041884	missense	probably benign	0.07
R5311:Vmn2r104	UTSW	17	20029901	missense	probably damaging	1.00
R5370:Vmn2r104	UTSW	17	20030188	missense	probably damaging	0.97
R5461:Vmn2r104	UTSW	17	20030081	missense	probably damaging	1.00
R5683:Vmn2r104	UTSW	17	20040719	nonsense	probably null
R5795:Vmn2r104	UTSW	17	20030110	missense	probably benign	0.02
R5795:Vmn2r104	UTSW	17	20030282	missense	possibly damaging	0.89
R5970:Vmn2r104	UTSW	17	20029471	missense	probably benign	0.01
R5983:Vmn2r104	UTSW	17	20041708	missense	probably damaging	1.00
R5992:Vmn2r104	UTSW	17	20029485	missense	probably damaging	1.00
R6066:Vmn2r104	UTSW	17	20038311	missense	possibly damaging	0.69
R6156:Vmn2r104	UTSW	17	20041647	missense	probably damaging	1.00
R6182:Vmn2r104	UTSW	17	20030245	missense	probably benign	0.16
R6245:Vmn2r104	UTSW	17	20041567	missense	possibly damaging	0.69
R6333:Vmn2r104	UTSW	17	20029586	missense	probably benign	0.30
R6573:Vmn2r104	UTSW	17	20042225	missense	probably damaging	1.00
R7101:Vmn2r104	UTSW	17	20030096	missense	possibly damaging	0.65
R7123:Vmn2r104	UTSW	17	20040826	missense	probably benign	0.12
R7485:Vmn2r104	UTSW	17	20029475	missense	probably benign	0.01
R7514:Vmn2r104	UTSW	17	20029529	missense	probably damaging	1.00
R7634:Vmn2r104	UTSW	17	20041709	missense	possibly damaging	0.48
R7958:Vmn2r104	UTSW	17	20042726	missense	probably benign
R8031:Vmn2r104	UTSW	17	20042786	missense	probably benign	0.34
R8094:Vmn2r104	UTSW	17	20030221	missense	possibly damaging	0.77
R8191:Vmn2r104	UTSW	17	20030203	missense	possibly damaging	0.89
R8308:Vmn2r104	UTSW	17	20040778	missense	possibly damaging	0.55
R8691:Vmn2r104	UTSW	17	20041848	missense	probably damaging	0.98
R8795:Vmn2r104	UTSW	17	20042726	missense	probably benign
R8900:Vmn2r104	UTSW	17	20041662	missense	probably damaging	0.99
R8913:Vmn2r104	UTSW	17	20029706	missense	probably damaging	1.00
R9180:Vmn2r104	UTSW	17	20042825	missense	probably benign	0.00
R9199:Vmn2r104	UTSW	17	20041835	missense	probably damaging	0.99
R9282:Vmn2r104	UTSW	17	20040836	missense	probably damaging	1.00
R9303:Vmn2r104	UTSW	17	20048177	missense	possibly damaging	0.90
R9305:Vmn2r104	UTSW	17	20048177	missense	possibly damaging	0.90
R9322:Vmn2r104	UTSW	17	20042825	missense	probably benign	0.00
R9325:Vmn2r104	UTSW	17	20048171	missense	possibly damaging	0.95
R9414:Vmn2r104	UTSW	17	20029988	missense	probably damaging	0.99
R9785:Vmn2r104	UTSW	17	20048147	missense	probably benign
RF007:Vmn2r104	UTSW	17	20048040	missense	probably benign	0.36
Z1177:Vmn2r104	UTSW	17	20029789	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATGATCTGTAATGACTCTGTTGAGC -3'
(R):5'- ACTTCACCTGTCATTGTTAAGACC -3'

Sequencing Primer
(F):5'- ATGACTCTGTTGAGCTATTTCAAGG -3'
(R):5'- CTCAGTCTGTGTGCAGT -3'

Posted On

2016-07-06