Mutagenetix > Incidental Mutation

Incidental Mutation 'R1747:Vmn2r50'

194045

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r50

Ensembl Gene

ENSMUSG00000094606

Gene Name

vomeronasal 2, receptor 50

Synonyms

EG434117

MMRRC Submission

039779-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R1747 (G1)

Quality Score

123

Status

Not validated

Chromosome

Chromosomal Location

10037235-10053178 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10047678 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 380 (H380L)

Ref Sequence

ENSEMBL: ENSMUSP00000083478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074943] [ENSMUST00000086298]

AlphaFold

E9PW61

Predicted Effect

probably benign
Transcript: ENSMUST00000074943
AA Change: H396L

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000074476
Gene: ENSMUSG00000094606
AA Change: H396L

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	469	1.4e-32	PFAM
Pfam:NCD3G	512	565	2.9e-20	PFAM
Pfam:7tm_3	597	833	1.3e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000086298
AA Change: H380L

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000083478
Gene: ENSMUSG00000094606
AA Change: H380L

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	452	7e-31	PFAM
Pfam:NCD3G	496	549	5.3e-19	PFAM
Pfam:7tm_3	579	818	3.9e-78	PFAM

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

97% (65/67)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	C	T	8: 13,558,814	S117N	probably damaging	Het
A830010M20Rik	T	C	5: 107,451,999	S119P	probably damaging	Het
Acat3	A	G	17: 12,924,808	I349T	possibly damaging	Het
Add3	A	G	19: 53,242,550	N552S	probably benign	Het
Ak3	G	T	19: 29,022,861	P217T	possibly damaging	Het
Aox2	A	T	1: 58,339,592	D1000V	probably benign	Het
Ap1m2	A	G	9: 21,305,686	M118T	probably damaging	Het
Arhgap28	C	A	17: 67,901,309	A105S	probably benign	Het
Arhgef28	T	C	13: 97,936,824	E1368G	probably damaging	Het
Armc7	G	A	11: 115,488,757	V94I	probably benign	Het
Asxl1	C	A	2: 153,393,454	T223N	possibly damaging	Het
Cltc	T	C	11: 86,707,081	K1078E	probably damaging	Het
Cpne8	G	A	15: 90,584,915	T158I	probably benign	Het
Csn1s2b	T	C	5: 87,816,670		probably benign	Het
Cyp3a59	A	G	5: 146,104,758	I371V	probably benign	Het
Dennd4c	T	C	4: 86,807,438	F710L	probably damaging	Het
Diaph3	T	C	14: 87,073,337	D126G	probably damaging	Het
Dnm3	G	A	1: 162,313,584	R369C	probably damaging	Het
Dst	A	C	1: 34,160,709	Q86P	probably damaging	Het
Ern2	C	A	7: 122,173,819		probably null	Het
Ern2	T	A	7: 122,173,820		probably null	Het
Exoc6	T	A	19: 37,639,769		probably null	Het
Glg1	G	A	8: 111,197,673	R228C	probably damaging	Het
Gm4736	G	A	6: 132,115,670		noncoding transcript	Het
Hmcn2	G	C	2: 31,457,985	G4881A	probably benign	Het
Htr2a	T	G	14: 74,706,153	F391C	probably damaging	Het
Htr5b	A	T	1: 121,527,918	V91E	probably damaging	Het
Ifi44	T	A	3: 151,749,285	H101L	probably benign	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Klhl6	T	A	16: 19,947,028	H608L	probably benign	Het
Lrp4	T	C	2: 91,492,621	V1150A	probably damaging	Het
Lyst	T	C	13: 13,757,422	F3545S	probably benign	Het
Magi3	T	C	3: 104,034,173	D822G	possibly damaging	Het
Nbas	G	A	12: 13,335,898	S721N	probably benign	Het
Nog	T	A	11: 89,301,582	M147L	probably benign	Het
Npr1	C	T	3: 90,458,669	C605Y	possibly damaging	Het
Olfr1053	G	A	2: 86,314,867	L140F	probably benign	Het
Olfr866	A	C	9: 20,027,317	V207G	probably benign	Het
Pgs1	A	G	11: 118,001,631	S10G	probably benign	Het
Pla2g4c	T	C	7: 13,337,730		probably benign	Het
Prdm14	C	T	1: 13,122,403	V371I	possibly damaging	Het
Prom1	C	T	5: 44,007,031	V703I	probably benign	Het
Ptprk	A	G	10: 28,354,692	T260A	possibly damaging	Het
Scnn1g	A	T	7: 121,760,463	I390F	probably damaging	Het
Scrt2	C	T	2: 152,093,718	H264Y	probably damaging	Het
Sel1l3	C	T	5: 53,145,545	E661K	possibly damaging	Het
Skiv2l	G	T	17: 34,847,806	P162H	probably benign	Het
Slc10a5	G	T	3: 10,335,391	Q70K	probably benign	Het
Smg8	A	G	11: 87,085,303	V484A	possibly damaging	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Stag1	T	A	9: 100,888,300	S630T	probably benign	Het
Thyn1	A	C	9: 27,005,213	Q98P	probably damaging	Het
Ttc7	A	G	17: 87,307,015	R203G	possibly damaging	Het
Ttn	T	C	2: 76,878,516		probably benign	Het
Vmn1r236	C	T	17: 21,286,917	S99L	probably benign	Het
Vmn2r73	A	T	7: 85,858,167	C646S	probably damaging	Het
Wnt10b	A	G	15: 98,774,333	S168P	probably benign	Het
Zc3h7a	A	G	16: 11,145,253	M748T	possibly damaging	Het
Zfp804b	C	G	5: 6,770,217	E913Q	probably benign	Het
Zfp974	G	T	7: 27,911,081	F406L	possibly damaging	Het
Zic4	G	A	9: 91,384,146	C274Y	probably damaging	Het

Other mutations in Vmn2r50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01536:Vmn2r50	APN	7	10037683	missense	probably damaging	1.00
IGL01739:Vmn2r50	APN	7	10037437	missense	probably damaging	1.00
IGL02351:Vmn2r50	APN	7	10053075	missense	probably benign	0.01
IGL02358:Vmn2r50	APN	7	10053075	missense	probably benign	0.01
IGL02871:Vmn2r50	APN	7	10047787	missense	possibly damaging	0.91
IGL02962:Vmn2r50	APN	7	10050325	missense	probably damaging	1.00
IGL03187:Vmn2r50	APN	7	10037441	missense	probably damaging	1.00
IGL03346:Vmn2r50	APN	7	10046002	missense	probably damaging	0.99
PIT4651001:Vmn2r50	UTSW	7	10037732	missense	probably benign	0.30
R0530:Vmn2r50	UTSW	7	10047717	missense	possibly damaging	0.82
R1291:Vmn2r50	UTSW	7	10037477	missense	probably damaging	0.98
R1438:Vmn2r50	UTSW	7	10050135	nonsense	probably null
R1713:Vmn2r50	UTSW	7	10037804	missense	probably damaging	1.00
R1750:Vmn2r50	UTSW	7	10052988	missense	possibly damaging	0.69
R1918:Vmn2r50	UTSW	7	10047683	missense	probably benign	0.03
R2435:Vmn2r50	UTSW	7	10053099	missense	probably benign	0.27
R2511:Vmn2r50	UTSW	7	10047713	missense	possibly damaging	0.81
R3795:Vmn2r50	UTSW	7	10037924	missense	probably benign	0.18
R4156:Vmn2r50	UTSW	7	10040382	missense	probably benign	0.12
R4332:Vmn2r50	UTSW	7	10052995	missense	probably benign	0.32
R4399:Vmn2r50	UTSW	7	10047907	missense	possibly damaging	0.81
R4411:Vmn2r50	UTSW	7	10050308	missense	probably damaging	0.99
R4412:Vmn2r50	UTSW	7	10050308	missense	probably damaging	0.99
R4413:Vmn2r50	UTSW	7	10050308	missense	probably damaging	0.99
R4645:Vmn2r50	UTSW	7	10037235	makesense	probably null
R5151:Vmn2r50	UTSW	7	10053043	missense	probably benign	0.00
R5175:Vmn2r50	UTSW	7	10037717	missense	probably damaging	1.00
R5291:Vmn2r50	UTSW	7	10047825	missense	probably damaging	1.00
R5457:Vmn2r50	UTSW	7	10047946	missense	probably damaging	0.98
R5559:Vmn2r50	UTSW	7	10037326	missense	probably damaging	1.00
R5579:Vmn2r50	UTSW	7	10050089	missense	probably benign	0.00
R5711:Vmn2r50	UTSW	7	10040372	missense	possibly damaging	0.81
R5759:Vmn2r50	UTSW	7	10047978	missense	probably damaging	1.00
R6004:Vmn2r50	UTSW	7	10050059	missense	probably benign	0.00
R6394:Vmn2r50	UTSW	7	10040326	missense	probably damaging	1.00
R6488:Vmn2r50	UTSW	7	10037717	missense	probably damaging	1.00
R6762:Vmn2r50	UTSW	7	10053083	missense	probably benign	0.04
R6995:Vmn2r50	UTSW	7	10046037	nonsense	probably null
R6998:Vmn2r50	UTSW	7	10037757	missense	probably benign	0.03
R7019:Vmn2r50	UTSW	7	10050245	missense	probably benign	0.01
R7027:Vmn2r50	UTSW	7	10047612	missense	probably damaging	1.00
R7231:Vmn2r50	UTSW	7	10053083	missense	probably benign	0.04
R7343:Vmn2r50	UTSW	7	10050350	critical splice acceptor site	probably null
R7554:Vmn2r50	UTSW	7	10050139	missense	probably null	0.00
R7704:Vmn2r50	UTSW	7	10047738	missense	probably benign	0.05
R7768:Vmn2r50	UTSW	7	10037371	missense	probably damaging	0.99
R7773:Vmn2r50	UTSW	7	10037635	missense	possibly damaging	0.70
R7975:Vmn2r50	UTSW	7	10037345	missense	probably benign	0.39
R7987:Vmn2r50	UTSW	7	10038089	missense	probably benign	0.14
R7996:Vmn2r50	UTSW	7	10047868	missense	probably damaging	0.99
R8062:Vmn2r50	UTSW	7	10040313	critical splice donor site	probably null
R8396:Vmn2r50	UTSW	7	10047712	nonsense	probably null
R8466:Vmn2r50	UTSW	7	10050070	missense	probably damaging	0.97
R8985:Vmn2r50	UTSW	7	10046047	missense	probably damaging	1.00
R9068:Vmn2r50	UTSW	7	10038134	missense	possibly damaging	0.46
R9155:Vmn2r50	UTSW	7	10047644	missense	probably damaging	1.00
R9238:Vmn2r50	UTSW	7	10047576	missense	probably benign	0.01
R9576:Vmn2r50	UTSW	7	10037263	missense	probably benign
R9626:Vmn2r50	UTSW	7	10038033	nonsense	probably null
R9631:Vmn2r50	UTSW	7	10053063	nonsense	probably null
X0067:Vmn2r50	UTSW	7	10053027	missense	probably damaging	0.99
Z1088:Vmn2r50	UTSW	7	10037500	missense	possibly damaging	0.91
Z1088:Vmn2r50	UTSW	7	10046159	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTTGGCAGAATCACTGGAGACCAC -3'
(R):5'- AGACTTGGTTCCATCTCAGAAGCAAAG -3'

Sequencing Primer
(F):5'- ATCTGGGCATCTGAGAGACTC -3'
(R):5'- GAGCAATTCATCCAATGCCTC -3'

Posted On

2014-05-23