Mutagenetix > Incidental Mutations

Incidental Mutation 'R6645:Vmn2r6'

526055

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r6

Ensembl Gene

ENSMUSG00000090581

Gene Name

vomeronasal 2, receptor 6

Synonyms

EG620718, EG667069

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R6645 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64537561-64565298 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64556876 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 179 (V179E)

Ref Sequence

ENSEMBL: ENSMUSP00000135148 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165012
AA Change: V90E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000131831
Gene: ENSMUSG00000090581
AA Change: V90E

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: V179E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135148
Gene: ENSMUSG00000090581
AA Change: V179E

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	A	1: 26,683,117	D994V	probably benign	Het
Anp32e	T	A	3: 95,937,102	F95I	probably damaging	Het
Arap1	A	G	7: 101,408,111	K628R	possibly damaging	Het
Arid4b	A	T	13: 14,120,152	E6D	probably damaging	Het
Atxn10	G	T	15: 85,376,703		probably null	Het
Ccdc170	A	G	10: 4,560,974	I678V	possibly damaging	Het
Ccdc18	T	A	5: 108,138,930	V110D	probably benign	Het
Cep85l	C	T	10: 53,301,672	E322K	probably benign	Het
Cilp	A	T	9: 65,279,305	Y894F	possibly damaging	Het
Ddx4	A	G	13: 112,641,174	S62P	possibly damaging	Het
Dph7	T	C	2: 24,965,651	V154A	probably benign	Het
Ephb6	T	C	6: 41,617,272	S579P	probably benign	Het
Fam53a	G	T	5: 33,600,784	Q332K	probably benign	Het
Fancm	A	G	12: 65,106,100	D1110G	probably damaging	Het
Fh1	A	T	1: 175,614,876	V136E	possibly damaging	Het
Greb1	G	T	12: 16,698,579	H1132Q	probably benign	Het
Jph1	A	G	1: 17,091,761	S226P	probably damaging	Het
Kbtbd8	C	T	6: 95,126,749	R460*	probably null	Het
Lama5	T	A	2: 180,179,670	N3059Y	probably damaging	Het
Lipc	G	A	9: 70,803,748	T289I	probably damaging	Het
Lrrc2	T	C	9: 110,970,107	W241R	probably damaging	Het
Mfn2	T	A	4: 147,894,612	I88F	probably damaging	Het
Mms19	G	C	19: 41,955,191	N366K	probably benign	Het
Myo15	A	G	11: 60,477,292	T293A	probably benign	Het
Ndfip2	T	A	14: 105,292,273	Y179N	probably damaging	Het
Notch4	A	G	17: 34,587,816	D1909G	probably benign	Het
Obscn	C	T	11: 59,085,262	S2013N	probably damaging	Het
Oca2	G	T	7: 56,314,774	A357S	probably benign	Het
Olfr902	T	C	9: 38,448,923	L17S	probably damaging	Het
Olfr955	T	A	9: 39,470,266	L153F	probably benign	Het
Pde7b	C	A	10: 20,610,566		probably null	Het
Ppef2	T	C	5: 92,230,461	N625S	probably benign	Het
Prom1	A	T	5: 44,047,514	L192Q	probably damaging	Het
Satb2	T	C	1: 56,797,007	I542V	possibly damaging	Het
Sgpp2	C	T	1: 78,360,162	T59M	probably damaging	Het
Skint6	T	C	4: 112,892,038	T782A	possibly damaging	Het
Slc13a4	G	T	6: 35,268,839	Q624K	probably benign	Het
Slc9a3	T	A	13: 74,164,172	H629Q	probably damaging	Het
Slitrk3	G	T	3: 73,049,861	A526E	probably benign	Het
Sptssa	T	C	12: 54,646,490	Y53C	probably damaging	Het
Srsf10	T	C	4: 135,863,563	S159P	possibly damaging	Het
Tbce	T	C	13: 14,005,229	T341A	probably benign	Het
Tdrd6	A	G	17: 43,624,532	L1875P	probably benign	Het
Tkt	G	A	14: 30,570,211	G425R	probably damaging	Het
Tmprss7	T	C	16: 45,690,963	I17M	possibly damaging	Het
Ttc21b	T	C	2: 66,236,377	S311G	probably benign	Het
Ubr5	A	G	15: 38,029,506	Y492H	probably damaging	Het
Ush2a	T	C	1: 188,523,331	I1535T	probably damaging	Het
Vmn2r17	A	T	5: 109,428,381	N373Y	probably damaging	Het
Vps13b	A	G	15: 35,910,305	E3405G	probably benign	Het
Wac	A	T	18: 7,973,523	Q212H	probably damaging	Het
Washc4	C	T	10: 83,572,195	R555*	probably null	Het
Zmat4	G	A	8: 23,797,401		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
R0466:Vmn2r6	UTSW	3	64556302	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
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
R7982:Vmn2r6	UTSW	3	64559820	missense	probably damaging	1.00
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
R8337:Vmn2r6	UTSW	3	64556105	nonsense	probably null
R8736:Vmn2r6	UTSW	3	64559800	missense	probably damaging	1.00
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'- AACACAAAGGTTGGCCCTCTC -3'
(R):5'- TGTCAAAATTGTCCCCATCTACAC -3'

Sequencing Primer
(F):5'- AAAGGTTGGCCCTCTCCATTTC -3'
(R):5'- TTGTCCCCATCTACACCCAGAAAG -3'

Posted On

2018-06-22