Mutagenetix > Incidental Mutations

Incidental Mutation 'R0466:Vmn2r6'

41623

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r6

Ensembl Gene

ENSMUSG00000090581

Gene Name

vomeronasal 2, receptor 6

Synonyms

EG620718, EG667069

MMRRC Submission

038666-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.501) question?

Stock #

R0466 (G1)

Quality Score

175

Status

Validated

Chromosome

Chromosomal Location

64537561-64565298 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 64556302 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 370 (F370L)

Ref Sequence

ENSEMBL: ENSMUSP00000135148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165012] [ENSMUST00000176481]

Predicted Effect

probably damaging
Transcript: ENSMUST00000165012
AA Change: F281L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131831
Gene: ENSMUSG00000090581
AA Change: F281L

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	1	416	1.4e-72	PFAM
Pfam:Peripla_BP_6	58	244	1.2e-10	PFAM
Pfam:NCD3G	458	511	1.8e-17	PFAM
Pfam:7tm_3	542	779	3.9e-76	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000176481
AA Change: F370L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135148
Gene: ENSMUSG00000090581
AA Change: F370L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ANF_receptor	88	505	9.8e-77	PFAM
Pfam:Peripla_BP_6	142	331	3.4e-10	PFAM
Pfam:NCD3G	547	600	5.4e-17	PFAM
Pfam:7tm_3	633	867	3.9e-47	PFAM

Meta Mutation Damage Score

0.9611

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	T	C	11: 58,612,505		probably benign	Het
4933412E24Rik	T	C	15: 60,015,472	Y373C	probably benign	Het
Abca12	T	G	1: 71,302,663	Q1046H	probably damaging	Het
Adgrv1	A	G	13: 81,566,296	F956S	probably benign	Het
Alk	A	G	17: 71,905,157	V797A	possibly damaging	Het
Armc4	T	A	18: 7,286,758	I158F	probably benign	Het
Ascl2	A	G	7: 142,968,480	L77P	probably benign	Het
Aspm	A	T	1: 139,477,901	I1509F	probably damaging	Het
AY358078	A	T	14: 51,805,632	Y259F	unknown	Het
Cbs	G	A	17: 31,616,152	A450V	probably benign	Het
Cdh11	T	A	8: 102,670,058	Q213L	possibly damaging	Het
Cdh26	C	T	2: 178,481,632	R675C	possibly damaging	Het
Cfap126	T	C	1: 171,126,200	I113T	probably damaging	Het
Clk4	A	G	11: 51,267,328	D53G	possibly damaging	Het
Dab1	T	C	4: 104,720,550	L272P	probably benign	Het
Dmtf1	A	T	5: 9,132,454		probably null	Het
Dph5	A	C	3: 115,928,710	D279A	probably benign	Het
Fbxw19	T	A	9: 109,478,649	T461S	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gcg	T	C	2: 62,476,938	D93G	probably damaging	Het
Gmps	A	G	3: 63,993,944	T395A	probably damaging	Het
H2-Ob	A	G	17: 34,242,659	D124G	probably damaging	Het
Itga8	G	T	2: 12,232,886	A341E	probably damaging	Het
Itih3	A	G	14: 30,912,874		probably null	Het
Kcnh4	C	T	11: 100,746,932	G633E	probably benign	Het
Kif2c	C	T	4: 117,172,292	R215Q	possibly damaging	Het
Letm1	A	C	5: 33,761,730		probably benign	Het
Mmp3	A	G	9: 7,450,165	D299G	probably damaging	Het
Myh8	G	T	11: 67,298,579	A1194S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Nfib	A	C	4: 82,498,538	Y87D	probably damaging	Het
Nlrp4a	T	C	7: 26,462,620		probably benign	Het
Nsmce1	A	T	7: 125,472,236		probably benign	Het
Olfr834	T	G	9: 18,988,255	V89G	probably benign	Het
Olfr845	A	T	9: 19,339,179	T240S	probably damaging	Het
Patj	C	A	4: 98,688,156	Q1193K	probably damaging	Het
Pcdhb5	G	A	18: 37,322,543	V659M	probably damaging	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pmis2	T	C	7: 30,671,392	I46V	probably benign	Het
Ppp2r5e	A	G	12: 75,462,442		probably benign	Het
Prom2	A	G	2: 127,528,789	F825S	probably damaging	Het
Rab11fip2	G	A	19: 59,906,243	A524V	possibly damaging	Het
Rb1cc1	A	C	1: 6,263,267		probably null	Het
Rwdd3	G	C	3: 121,159,019	Q180E	possibly damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Sgcg	A	T	14: 61,221,686	C265S	probably damaging	Het
Slc16a3	T	C	11: 120,958,052	S445P	possibly damaging	Het
Slc22a3	G	A	17: 12,458,493	Q263*	probably null	Het
Sorcs3	A	G	19: 48,748,319	T694A	probably benign	Het
Tbc1d15	T	C	10: 115,219,172	K322E	probably damaging	Het
Tecta	G	T	9: 42,373,073	F905L	probably benign	Het
Tmeff1	A	G	4: 48,636,853	I184V	possibly damaging	Het
Ttf1	A	G	2: 29,065,407	H261R	possibly damaging	Het
Ttll6	T	A	11: 96,145,591	L349M	probably damaging	Het
Ubac2	G	A	14: 121,973,619	V134M	probably damaging	Het
Ubxn4	G	A	1: 128,262,904	E256K	probably benign	Het
Vmn2r25	T	G	6: 123,852,049	I89L	probably benign	Het
Vps13b	T	A	15: 35,445,602	Y412*	probably null	Het
Zfp142	A	G	1: 74,585,411	S85P	possibly damaging	Het
Zfp516	G	A	18: 82,957,454		probably null	Het

Other mutations in Vmn2r6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01547:Vmn2r6	APN	3	64538104	missense	probably damaging	1.00
IGL01968:Vmn2r6	APN	3	64556345	missense	possibly damaging	0.94
IGL02009:Vmn2r6	APN	3	64537902	missense	possibly damaging	0.61
IGL02039:Vmn2r6	APN	3	64556189	missense	probably damaging	1.00
IGL02652:Vmn2r6	APN	3	64556328	missense	probably benign	0.24
IGL02737:Vmn2r6	APN	3	64556490	missense	possibly damaging	0.55
IGL02808:Vmn2r6	APN	3	64556496	missense	probably damaging	1.00
IGL03066:Vmn2r6	APN	3	64565153	missense	probably damaging	0.99
IGL03331:Vmn2r6	APN	3	64538007	missense	probably damaging	1.00
BB010:Vmn2r6	UTSW	3	64559803	missense	probably benign	0.02
BB020:Vmn2r6	UTSW	3	64559803	missense	probably benign	0.02
R0010:Vmn2r6	UTSW	3	64559545	nonsense	probably null
R0206:Vmn2r6	UTSW	3	64539912	missense	probably benign
R0206:Vmn2r6	UTSW	3	64539912	missense	probably benign
R0208:Vmn2r6	UTSW	3	64539912	missense	probably benign
R0427:Vmn2r6	UTSW	3	64559587	missense	probably damaging	1.00
R1018:Vmn2r6	UTSW	3	64556840	missense	probably benign	0.00
R1104:Vmn2r6	UTSW	3	64538066	missense	possibly damaging	0.93
R1186:Vmn2r6	UTSW	3	64565067	missense	probably benign	0.01
R1245:Vmn2r6	UTSW	3	64556790	missense	possibly damaging	0.53
R1295:Vmn2r6	UTSW	3	64538273	missense	probably damaging	1.00
R1473:Vmn2r6	UTSW	3	64538158	nonsense	probably null
R1498:Vmn2r6	UTSW	3	64556469	missense	probably damaging	1.00
R1925:Vmn2r6	UTSW	3	64556277	missense	possibly damaging	0.87
R2044:Vmn2r6	UTSW	3	64537841	missense	probably damaging	0.96
R2069:Vmn2r6	UTSW	3	64556098	missense	possibly damaging	0.89
R2253:Vmn2r6	UTSW	3	64559718	missense	probably damaging	1.00
R2261:Vmn2r6	UTSW	3	64556669	missense	probably benign	0.24
R2262:Vmn2r6	UTSW	3	64556669	missense	probably benign	0.24
R2350:Vmn2r6	UTSW	3	64556352	missense	probably benign	0.01
R2680:Vmn2r6	UTSW	3	64538286	missense	possibly damaging	0.91
R2846:Vmn2r6	UTSW	3	64556790	missense	possibly damaging	0.53
R2860:Vmn2r6	UTSW	3	64547339	missense	probably benign	0.00
R2861:Vmn2r6	UTSW	3	64547339	missense	probably benign	0.00
R3766:Vmn2r6	UTSW	3	64556508	missense	probably benign	0.19
R3870:Vmn2r6	UTSW	3	64556621	missense	probably damaging	0.96
R4018:Vmn2r6	UTSW	3	64556472	missense	probably benign	0.05
R4024:Vmn2r6	UTSW	3	64538250	missense	possibly damaging	0.73
R4026:Vmn2r6	UTSW	3	64538250	missense	possibly damaging	0.73
R4227:Vmn2r6	UTSW	3	64537948	missense	probably damaging	0.99
R4526:Vmn2r6	UTSW	3	64537724	missense	probably benign	0.32
R4570:Vmn2r6	UTSW	3	64559647	missense	probably benign	0.31
R4894:Vmn2r6	UTSW	3	64547408	missense	probably benign
R4934:Vmn2r6	UTSW	3	64556345	missense	probably damaging	0.99
R5057:Vmn2r6	UTSW	3	64537786	missense	probably damaging	1.00
R5059:Vmn2r6	UTSW	3	64537623	missense	possibly damaging	0.89
R5148:Vmn2r6	UTSW	3	64556594	missense	probably damaging	0.99
R5155:Vmn2r6	UTSW	3	64538514	missense	probably benign	0.44
R5179:Vmn2r6	UTSW	3	64537990	missense	probably benign	0.00
R5256:Vmn2r6	UTSW	3	64556842	missense	probably benign	0.33
R5861:Vmn2r6	UTSW	3	64556033	missense	probably benign	0.00
R5950:Vmn2r6	UTSW	3	64565231	missense	probably benign	0.05
R6081:Vmn2r6	UTSW	3	64556532	missense	probably benign	0.25
R6173:Vmn2r6	UTSW	3	64559755	missense	probably damaging	1.00
R6190:Vmn2r6	UTSW	3	64538003	missense	probably benign	0.04
R6240:Vmn2r6	UTSW	3	64556805	missense	probably damaging	1.00
R6433:Vmn2r6	UTSW	3	64547380	nonsense	probably null
R6645:Vmn2r6	UTSW	3	64556876	missense	probably damaging	1.00
R6791:Vmn2r6	UTSW	3	64538159	missense	probably damaging	1.00
R7265:Vmn2r6	UTSW	3	64556774	missense	probably benign	0.00
R7503:Vmn2r6	UTSW	3	64539951	nonsense	probably null
R7562:Vmn2r6	UTSW	3	64556520	missense	probably benign	0.00
R7584:Vmn2r6	UTSW	3	64565262	missense	probably benign	0.07
R7611:Vmn2r6	UTSW	3	64565142	missense	probably damaging	0.98
R7759:Vmn2r6	UTSW	3	64556570	missense	probably damaging	1.00
R7834:Vmn2r6	UTSW	3	64538022	missense	probably damaging	1.00
R7933:Vmn2r6	UTSW	3	64559803	missense	probably benign	0.02
R8024:Vmn2r6	UTSW	3	64559824	missense	probably benign	0.40
R8074:Vmn2r6	UTSW	3	64547643	intron	probably benign
R8169:Vmn2r6	UTSW	3	64539889	missense	probably benign	0.01
X0020:Vmn2r6	UTSW	3	64538450	missense	probably benign
X0066:Vmn2r6	UTSW	3	64547378	missense	probably damaging	1.00
Z1176:Vmn2r6	UTSW	3	64556325	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGCCAAAAGATACACAGCTTGTCTGAC -3'
(R):5'- TGCAACTGACATTGACCTCTGCCC -3'

Sequencing Primer
(F):5'- ACACAGCTTGTCTGACATTGTTTG -3'
(R):5'- CCGAAGCCTGGATTACCTC -3'

Posted On

2013-05-23