Mutagenetix > Incidental Mutation

Incidental Mutation 'R5155:Vmn2r6'

396637

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r6

Ensembl Gene

ENSMUSG00000090581

Gene Name

vomeronasal 2, receptor 6

Synonyms

EG620718, EG667069

MMRRC Submission

042737-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R5155 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64537561-64565298 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 64538514 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 597 (N597H)

Ref Sequence

ENSEMBL: ENSMUSP00000135148 (fasta)

Gene Model

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

AlphaFold

H3BK29

Predicted Effect

probably benign
Transcript: ENSMUST00000165012
AA Change: N508H

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131831
Gene: ENSMUSG00000090581
AA Change: N508H

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 benign
Transcript: ENSMUST00000176481
AA Change: N597H

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135148
Gene: ENSMUSG00000090581
AA Change: N597H

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: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	C	5: 107,490,703	I323T	probably damaging	Het
Abca13	T	C	11: 9,532,447	V4326A	probably damaging	Het
Actn4	A	G	7: 28,962,017		probably null	Het
Adamts8	A	G	9: 30,954,548	D464G	probably benign	Het
Adssl1	T	C	12: 112,638,208	I366T	probably damaging	Het
Alox12e	T	C	11: 70,316,255	D575G	possibly damaging	Het
Ankrd44	A	T	1: 54,778,330	M73K	probably benign	Het
Ap4e1	A	G	2: 127,063,369	T987A	probably benign	Het
Banp	A	C	8: 122,001,020	S318R	probably damaging	Het
Bcas1	T	C	2: 170,418,618	H47R	probably damaging	Het
Brwd1	G	T	16: 96,002,793	S2524*	probably null	Het
Cand2	T	A	6: 115,792,258	D676E	probably benign	Het
Cc2d1a	A	T	8: 84,141,126	H224Q	probably benign	Het
Ccdc138	A	T	10: 58,507,572	Y83F	probably benign	Het
Ccdc155	C	A	7: 45,189,654	E53*	probably null	Het
Ccdc162	A	T	10: 41,553,580		probably null	Het
Ccdc162	A	C	10: 41,579,151	S396A	probably damaging	Het
Ces1e	A	T	8: 93,201,406	*562R	probably null	Het
Clstn2	T	A	9: 97,456,431	M892L	probably benign	Het
Crybg3	T	C	16: 59,524,901	T2673A	possibly damaging	Het
Cstf3	A	G	2: 104,652,485	N326S	probably benign	Het
Cux1	G	A	5: 136,565,441		probably benign	Het
Cyb5r4	T	G	9: 87,040,403	M155R	probably benign	Het
D130043K22Rik	A	G	13: 24,872,290	D535G	probably damaging	Het
D430042O09Rik	A	G	7: 125,872,184	T1486A	probably damaging	Het
Dnah2	G	A	11: 69,422,536	P4266S	probably damaging	Het
Dnah7a	T	A	1: 53,643,495	N272I	probably benign	Het
Dsg2	A	G	18: 20,598,658	Y779C	possibly damaging	Het
Eif4g3	T	A	4: 138,126,743	N507K	probably benign	Het
Elavl4	T	C	4: 110,292,636	Q3R	probably null	Het
Engase	T	G	11: 118,481,281	I133S	probably benign	Het
Ercc5	T	C	1: 44,180,622	V1018A	probably damaging	Het
Ext1	C	A	15: 53,075,817	W612L	probably damaging	Het
Faap100	T	A	11: 120,377,632	E105V	possibly damaging	Het
Fam8a1	G	A	13: 46,673,562	A270T	probably benign	Het
Fhdc1	T	G	3: 84,446,150	Q589H	probably benign	Het
Gatm	G	A	2: 122,609,853	T35I	probably benign	Het
Gcgr	T	C	11: 120,537,046	I271T	probably benign	Het
Gm21818	T	C	13: 120,173,553	S124P	probably benign	Het
Gm527	T	A	12: 64,923,607	Y239N	probably damaging	Het
H2-Ab1	A	G	17: 34,267,384	H139R	possibly damaging	Het
Herc2	G	A	7: 56,227,826	R4547Q	possibly damaging	Het
Itga1	A	T	13: 115,035,303	S89T	probably benign	Het
Lrba	A	G	3: 86,351,300	M1365V	probably benign	Het
Lrp1b	A	C	2: 41,728,622		probably null	Het
Map1a	G	A	2: 121,302,386	A990T	probably damaging	Het
Micall2	C	A	5: 139,710,231	L784F	probably damaging	Het
Mmp9	T	C	2: 164,949,066		probably null	Het
Mrps7	T	A	11: 115,604,829	Y64*	probably null	Het
Mslnl	C	T	17: 25,738,968	Q62*	probably null	Het
Nfil3	A	G	13: 52,968,580	L96P	probably damaging	Het
Olfr453	A	G	6: 42,744,814	Y259C	probably damaging	Het
Phf3	T	C	1: 30,824,376	D756G	possibly damaging	Het
Plxnd1	C	T	6: 115,958,988		probably null	Het
Prickle4	C	T	17: 47,690,057		probably null	Het
Prr9	T	A	3: 92,123,049	T95S	possibly damaging	Het
Prrc2a	A	G	17: 35,160,091		probably null	Het
Prrt3	A	G	6: 113,497,559		probably null	Het
Psme4	A	T	11: 30,876,806	Y1775F	probably damaging	Het
Pum2	T	C	12: 8,713,572	V243A	possibly damaging	Het
Rnf32	T	C	5: 29,203,147	S125P	probably damaging	Het
Rnf8	A	G	17: 29,626,630	Y65C	probably damaging	Het
Rph3a	T	C	5: 120,948,770	T456A	possibly damaging	Het
Scaper	T	A	9: 55,556,086	Q854L	probably null	Het
Sez6l2	T	C	7: 126,962,373	S472P	probably damaging	Het
Spsb3	T	C	17: 24,886,995		probably benign	Het
Srebf2	A	G	15: 82,196,226	D40G	probably damaging	Het
Sspo	A	G	6: 48,460,474	N1389D	probably benign	Het
Taf4b	G	T	18: 14,830,095	A631S	probably benign	Het
Tigd4	G	A	3: 84,594,663	V296M	possibly damaging	Het
Tsc22d2	T	A	3: 58,417,316		probably benign	Het
Uso1	T	A	5: 92,167,335		probably null	Het
Zfc3h1	T	A	10: 115,412,121	S1076R	possibly damaging	Het
Zfp64	T	A	2: 168,906,965	Q44L	probably benign	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
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
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
R8962:Vmn2r6	UTSW	3	64556155	missense	probably damaging	1.00
R9139:Vmn2r6	UTSW	3	64556856	missense	probably benign	0.12
R9206:Vmn2r6	UTSW	3	64559611	missense	probably damaging	0.97
R9295:Vmn2r6	UTSW	3	64556063	missense	probably benign	0.00
R9332:Vmn2r6	UTSW	3	64547250	missense	probably benign	0.01
R9616:Vmn2r6	UTSW	3	64538303	missense	probably damaging	1.00
R9663:Vmn2r6	UTSW	3	64556128	missense	possibly damaging	0.90
R9685:Vmn2r6	UTSW	3	64556660	missense	probably benign	0.19
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'- AATGAGGAAGCTCAGCTCCC -3'
(R):5'- TGTCACATCATCTGCACCAAG -3'

Sequencing Primer
(F):5'- AAGCTCAGCTCCCGGTCATTG -3'
(R):5'- GCACCAAGGCCCCTTTTATAATTG -3'

Posted On

2016-06-21