Mutagenetix > Incidental Mutation

Incidental Mutation 'R1694:Vmn2r76'

192017

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r76

Ensembl Gene

ENSMUSG00000091239

Gene Name

vomeronasal 2, receptor 76

Synonyms

MMRRC Submission

039727-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R1694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86225206-86246201 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86230148 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 315 (S315P)

Ref Sequence

ENSEMBL: ENSMUSP00000127309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165771]

AlphaFold

E9Q3F5

Predicted Effect

probably benign
Transcript: ENSMUST00000165771
AA Change: S315P

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000127309
Gene: ENSMUSG00000091239
AA Change: S315P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ANF_receptor	78	470	1.2e-29	PFAM
low complexity region	476	489	N/A	INTRINSIC
Pfam:NCD3G	513	565	3.7e-22	PFAM
Pfam:7tm_3	598	833	1.4e-52	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	T	C	10: 120,778,628		probably benign	Het
4930447C04Rik	C	T	12: 72,885,218		probably null	Het
Abca16	A	G	7: 120,520,084	H1017R	probably damaging	Het
Actl11	A	G	9: 107,930,008	Y510C	probably damaging	Het
Agbl2	A	G	2: 90,801,320	T341A	probably damaging	Het
Agbl5	A	G	5: 30,893,382	Y458C	probably damaging	Het
Akap5	C	T	12: 76,329,924	S710L	probably damaging	Het
Akr1c21	A	G	13: 4,575,178	E36G	probably damaging	Het
Arhgap44	A	G	11: 65,053,197	S163P	probably damaging	Het
Armc1	A	G	3: 19,134,886	V205A	possibly damaging	Het
Asph	A	G	4: 9,610,869	L102P	probably damaging	Het
Brca1	T	C	11: 101,532,099	E74G	probably damaging	Het
Brms1l	A	G	12: 55,841,600	R58G	probably damaging	Het
C1qbp	G	T	11: 70,978,247		probably null	Het
Calcrl	A	T	2: 84,339,287	L350H	probably damaging	Het
Casr	A	T	16: 36,495,591	F706I	probably damaging	Het
Ceacam10	T	A	7: 24,781,066	N87K	probably benign	Het
Cfap206	G	T	4: 34,719,058	T316K	probably damaging	Het
Col4a3	A	T	1: 82,690,663		probably null	Het
Comtd1	A	G	14: 21,847,330	V183A	probably damaging	Het
Crygs	A	T	16: 22,806,675		probably null	Het
Dact1	C	A	12: 71,312,777	T139K	probably damaging	Het
Dlx6	T	C	6: 6,867,173	W259R	probably damaging	Het
Dnah9	G	T	11: 65,954,824	S627*	probably null	Het
Dnajc11	T	A	4: 151,979,273	V442D	probably damaging	Het
Dnajc21	A	T	15: 10,451,563	S393T	probably benign	Het
Dpysl3	C	A	18: 43,328,374	C584F	possibly damaging	Het
Efcab14	A	G	4: 115,746,539	K138R	possibly damaging	Het
Ephb3	A	G	16: 21,221,745	E577G	probably damaging	Het
Exoc3	C	T	13: 74,190,065		probably null	Het
Fam171a1	A	G	2: 3,225,623	S473G	probably benign	Het
Fbxl2	A	T	9: 114,003,171	F58L	probably damaging	Het
Fmo6	T	C	1: 162,922,672	M272V	probably benign	Het
Gm1000	T	C	12: 104,476,600		probably benign	Het
Gm765	A	C	6: 98,238,139	S174R	probably damaging	Het
Grik1	T	A	16: 87,950,068	D442V	probably damaging	Het
Hectd1	A	G	12: 51,744,592	Y2588H	probably damaging	Het
Insrr	A	C	3: 87,804,062	T430P	probably benign	Het
Lats1	T	C	10: 7,701,945	S278P	probably benign	Het
Lrch4	A	G	5: 137,638,461	T463A	probably benign	Het
Ltbp1	A	G	17: 75,225,285	Q118R	possibly damaging	Het
Lyst	T	G	13: 13,661,161	F1809L	probably damaging	Het
Mad2l1bp	A	G	17: 46,152,844	Y85H	possibly damaging	Het
Magoh	G	T	4: 107,883,165	R82L	probably benign	Het
Mlh1	A	G	9: 111,228,475	V756A	probably damaging	Het
Mlh3	T	C	12: 85,267,141	E757G	probably damaging	Het
Mycbp2	T	C	14: 103,227,511	T1339A	probably damaging	Het
Myh7b	A	T	2: 155,613,193	E46V	probably damaging	Het
Naalad2	T	A	9: 18,327,387	R677S	probably damaging	Het
Nadsyn1	G	A	7: 143,808,012	T324I	probably benign	Het
Neo1	A	T	9: 58,880,603	L1389Q	probably damaging	Het
Nlrp1b	A	G	11: 71,216,855		probably null	Het
Nup210	A	C	6: 91,062,803	I690S	probably benign	Het
Olfr235	T	A	19: 12,268,917	I229N	probably damaging	Het
Olfr543	A	T	7: 102,477,340	S177T	probably benign	Het
Olfr824	T	A	10: 130,126,254	I268F	possibly damaging	Het
Otud7a	C	A	7: 63,733,710	H316N	probably damaging	Het
Pcdh15	T	C	10: 74,594,163	S1241P	probably damaging	Het
Pclo	A	G	5: 14,520,963	K121E	probably damaging	Het
Pcmtd1	A	T	1: 7,147,648	I107L	probably benign	Het
Pde6c	A	G	19: 38,180,225	I755V	probably damaging	Het
Pes1	CGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGG	11: 3,977,719		probably benign	Het
Pi4ka	A	T	16: 17,295,376	I1532N	probably damaging	Het
Pla2r1	A	G	2: 60,441,084		probably null	Het
Plb1	A	G	5: 32,317,277	N661S	probably null	Het
Plekhd1	A	G	12: 80,722,321	K452E	possibly damaging	Het
Prr12	C	A	7: 45,028,579	V2003F	unknown	Het
Ptger1	G	A	8: 83,668,478	G195R	probably benign	Het
Ptpn4	T	C	1: 119,783,510	Q67R	probably damaging	Het
Rgsl1	C	T	1: 153,804,676	R760H	probably damaging	Het
Rock1	A	G	18: 10,136,094		probably null	Het
Rtn1	T	C	12: 72,223,524	Y71C	probably damaging	Het
Rtp4	T	C	16: 23,613,120	*62Q	probably null	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,229,857		probably benign	Het
Scimp	G	T	11: 70,793,792	P78H	probably damaging	Het
Scn8a	C	A	15: 100,955,528	S132*	probably null	Het
Set	A	G	2: 30,069,424	I124M	probably damaging	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Sgce	A	G	6: 4,689,709	S375P	probably damaging	Het
Slc4a1ap	G	C	5: 31,543,754	E600Q	probably damaging	Het
Slit1	A	G	19: 41,637,592	V577A	possibly damaging	Het
Sqstm1	A	G	11: 50,207,480	V153A	probably benign	Het
Src	A	G	2: 157,469,755	M468V	possibly damaging	Het
Srrm3	A	G	5: 135,873,225		probably benign	Het
Stk11ip	C	T	1: 75,527,386	R257W	probably damaging	Het
Tfrc	T	A	16: 32,614,625	D32E	probably damaging	Het
Tor1aip2	A	T	1: 156,065,285	I446L	probably benign	Het
Trmt11	T	C	10: 30,535,225	H424R	probably benign	Het
Urb1	A	G	16: 90,767,040	Y1612H	probably benign	Het
Vcan	A	T	13: 89,688,483	S2981T	probably damaging	Het
Vdac1	G	C	11: 52,374,363	G21A	probably damaging	Het
Xpo1	A	G	11: 23,281,399	T328A	probably benign	Het
Xrcc5	C	T	1: 72,319,096	L197F	possibly damaging	Het
Zfhx2	G	C	14: 55,073,944	S431C	possibly damaging	Het
Zfp410	C	T	12: 84,325,720	P54S	probably benign	Het
Zfp560	C	A	9: 20,347,986	G527*	probably null	Het
Zfp775	A	G	6: 48,619,455	T88A	possibly damaging	Het
Zfp780b	T	A	7: 27,964,383	H249L	possibly damaging	Het

Other mutations in Vmn2r76

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Vmn2r76	APN	7	86228717	missense	probably benign
IGL01374:Vmn2r76	APN	7	86225649	missense	probably benign	0.02
IGL01419:Vmn2r76	APN	7	86225702	missense	probably benign	0.32
IGL01627:Vmn2r76	APN	7	86225663	missense	probably damaging	1.00
IGL01730:Vmn2r76	APN	7	86230198	missense	probably benign	0.02
IGL01957:Vmn2r76	APN	7	86228717	missense	probably benign
IGL02214:Vmn2r76	APN	7	86229930	missense	probably benign	0.07
IGL02489:Vmn2r76	APN	7	86228863	missense	probably benign	0.41
IGL02543:Vmn2r76	APN	7	86230148	missense	probably benign	0.06
IGL02579:Vmn2r76	APN	7	86228753	nonsense	probably null
IGL02598:Vmn2r76	APN	7	86228671	missense	probably benign	0.05
IGL02720:Vmn2r76	APN	7	86225706	missense	probably benign	0.35
IGL02745:Vmn2r76	APN	7	86230287	missense	probably benign	0.06
IGL03393:Vmn2r76	APN	7	86229826	missense	probably benign	0.01
R0483:Vmn2r76	UTSW	7	86225751	missense	probably damaging	1.00
R0513:Vmn2r76	UTSW	7	86228779	missense	probably benign	0.01
R0528:Vmn2r76	UTSW	7	86230298	missense	possibly damaging	0.80
R0601:Vmn2r76	UTSW	7	86226115	critical splice acceptor site	probably null
R0662:Vmn2r76	UTSW	7	86230370	missense	probably benign	0.39
R0883:Vmn2r76	UTSW	7	86228696	missense	probably benign	0.00
R1532:Vmn2r76	UTSW	7	86230246	missense	probably benign	0.02
R1696:Vmn2r76	UTSW	7	86231256	missense	possibly damaging	0.56
R2135:Vmn2r76	UTSW	7	86231011	missense	probably benign	0.02
R2151:Vmn2r76	UTSW	7	86230484	missense	probably benign
R2181:Vmn2r76	UTSW	7	86225535	missense	probably benign	0.00
R2268:Vmn2r76	UTSW	7	86230499	missense	probably benign	0.03
R2877:Vmn2r76	UTSW	7	86225993	missense	probably benign	0.00
R3155:Vmn2r76	UTSW	7	86225751	missense	probably damaging	1.00
R3746:Vmn2r76	UTSW	7	86225555	missense	probably benign	0.11
R3799:Vmn2r76	UTSW	7	86226036	missense	probably benign	0.00
R3825:Vmn2r76	UTSW	7	86231207	missense	probably benign	0.10
R4058:Vmn2r76	UTSW	7	86230300	missense	probably benign	0.00
R4237:Vmn2r76	UTSW	7	86230532	missense	probably benign	0.00
R4404:Vmn2r76	UTSW	7	86228303	missense	probably benign	0.16
R4796:Vmn2r76	UTSW	7	86230444	missense	possibly damaging	0.95
R4838:Vmn2r76	UTSW	7	86225525	missense	probably damaging	1.00
R5175:Vmn2r76	UTSW	7	86228707	missense	probably benign	0.00
R5268:Vmn2r76	UTSW	7	86226059	missense	probably damaging	1.00
R5381:Vmn2r76	UTSW	7	86225288	missense	probably damaging	1.00
R5531:Vmn2r76	UTSW	7	86225449	missense	probably damaging	1.00
R5566:Vmn2r76	UTSW	7	86226078	missense	probably damaging	1.00
R5646:Vmn2r76	UTSW	7	86226053	missense	probably damaging	0.98
R5664:Vmn2r76	UTSW	7	86245994	critical splice donor site	probably null
R5818:Vmn2r76	UTSW	7	86229934	missense	probably benign	0.00
R6093:Vmn2r76	UTSW	7	86228261	nonsense	probably null
R6651:Vmn2r76	UTSW	7	86228851	missense	possibly damaging	0.64
R6741:Vmn2r76	UTSW	7	86230352	missense	probably benign
R6750:Vmn2r76	UTSW	7	86225906	missense	probably damaging	1.00
R7082:Vmn2r76	UTSW	7	86225232	missense	probably benign	0.01
R7136:Vmn2r76	UTSW	7	86228767	missense	probably benign	0.06
R7524:Vmn2r76	UTSW	7	86225369	missense	probably benign	0.22
R7524:Vmn2r76	UTSW	7	86230166	missense	probably benign	0.00
R7611:Vmn2r76	UTSW	7	86230180	missense	probably benign	0.04
R7833:Vmn2r76	UTSW	7	86228684	missense	probably benign
R8002:Vmn2r76	UTSW	7	86230063	missense	probably benign	0.05
R8021:Vmn2r76	UTSW	7	86225750	missense	probably damaging	1.00
R8023:Vmn2r76	UTSW	7	86229820	missense	probably benign	0.00
R8250:Vmn2r76	UTSW	7	86226023	missense	possibly damaging	0.82
R8428:Vmn2r76	UTSW	7	86225271	missense	possibly damaging	0.63
R8874:Vmn2r76	UTSW	7	86228791	missense	probably damaging	1.00
R9139:Vmn2r76	UTSW	7	86229962	missense	probably benign	0.02
R9357:Vmn2r76	UTSW	7	86231220	missense	probably benign	0.43
Z1176:Vmn2r76	UTSW	7	86246063	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- TGAATGGGCTACAGCATACACAGC -3'
(R):5'- GACGGTCTAGGACTTCAATTTGCCTC -3'

Sequencing Primer
(F):5'- CAGCATACACAGCATTGTATAGG -3'
(R):5'- ATTCTTGACAATGACTGACACG -3'

Posted On

2014-05-14