Mutagenetix > Incidental Mutation

Incidental Mutation 'R6003:Vmn2r8'

478458

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r8

Ensembl Gene

ENSMUSG00000090961

Gene Name

vomeronasal 2, receptor 8

Synonyms

EG627479

MMRRC Submission

043252-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R6003 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108797193-108808754 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108797382 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 786 (S786R)

Ref Sequence

ENSEMBL: ENSMUSP00000126953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004943] [ENSMUST00000172140]

AlphaFold

L7N472

Predicted Effect

probably benign
Transcript: ENSMUST00000004943

SMART Domains

Protein: ENSMUSP00000004943
Gene: ENSMUSG00000004821

Domain	Start	End	E-Value	Type
EMP24_GP25L	17	210	1.11e-59	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000172140
AA Change: S786R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126953
Gene: ENSMUSG00000090961
AA Change: S786R

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ANF_receptor	78	419	1.1e-28	PFAM
Pfam:NCD3G	507	561	8.2e-18	PFAM
Pfam:7tm_3	594	829	1.1e-54	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	T	C	15: 83,228,111	E157G	probably benign	Het
Abcb11	T	C	2: 69,243,467	K1238R	probably benign	Het
Ankar	T	A	1: 72,698,887	E45D	probably damaging	Het
Antxrl	G	T	14: 34,075,635	K522N	possibly damaging	Het
Ap1m1	A	G	8: 72,249,167	Y93C	probably damaging	Het
As3mt	C	T	19: 46,708,128	T35M	possibly damaging	Het
Aspg	T	C	12: 112,113,042	S85P	probably damaging	Het
BC030499	T	G	11: 78,293,020		probably null	Het
Cachd1	T	C	4: 100,952,019	S234P	possibly damaging	Het
Ccdc3	T	C	2: 5,141,407		probably null	Het
Cnpy1	T	C	5: 28,245,761	T16A	probably benign	Het
Cope	T	C	8: 70,304,635	L43P	probably benign	Het
E2f8	T	C	7: 48,870,777	M599V	probably benign	Het
Eif3a	A	T	19: 60,766,881	D954E	unknown	Het
Gfpt1	T	A	6: 87,088,248		probably null	Het
Ggps1	T	G	13: 14,054,002	S145R	probably benign	Het
Gon4l	A	G	3: 88,896,093	D1337G	probably damaging	Het
Gtf2a1l	G	T	17: 88,694,103	G82V	probably damaging	Het
Gucy1b1	C	A	3: 82,058,277	L87F	probably damaging	Het
Hoxc9	T	C	15: 102,981,879	V76A	probably benign	Het
Ints2	T	C	11: 86,238,468	E460G	probably damaging	Het
Kdm4b	C	T	17: 56,396,916	R756W	probably damaging	Het
Lax1	T	A	1: 133,684,096	I34F	probably benign	Het
Marveld3	A	T	8: 109,954,328	C312S	probably damaging	Het
Ncoa2	T	C	1: 13,167,030	D824G	possibly damaging	Het
Nrxn2	C	A	19: 6,498,328	A17D	possibly damaging	Het
Nup133	A	T	8: 123,938,292	I220N	probably damaging	Het
Nup205	T	C	6: 35,212,816	V984A	probably benign	Het
Nup54	A	T	5: 92,422,994	D318E	probably damaging	Het
Obp2a	A	T	2: 25,701,139	K94N	probably damaging	Het
Olfr1469	T	C	19: 13,411,039	S157P	probably benign	Het
Olfr318	A	T	11: 58,720,370	I226N	probably benign	Het
Pappa2	T	C	1: 158,936,250	I564V	probably benign	Het
Parpbp	A	G	10: 88,133,158	V142A	possibly damaging	Het
Rdh16f2	A	T	10: 127,876,332	R219S	probably benign	Het
Rfx6	C	T	10: 51,708,587	R228C	probably damaging	Het
Rpap2	A	G	5: 107,601,901		probably null	Het
Slc15a2	T	C	16: 36,754,548	I531V	probably benign	Het
Srebf1	T	C	11: 60,207,104	E58G	possibly damaging	Het
Tmem214	C	A	5: 30,870,724	T96K	possibly damaging	Het
Usp19	T	C	9: 108,496,380	Y691H	probably damaging	Het
Vmn1r86	C	T	7: 13,102,198	W200*	probably null	Het
Vps52	T	A	17: 33,956,094	M1K	probably null	Het
Zzef1	T	A	11: 72,824,065		probably null	Het

Other mutations in Vmn2r8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02957:Vmn2r8	APN	5	108802225	missense	probably benign	0.01
R0324:Vmn2r8	UTSW	5	108797941	splice site	probably null
R0335:Vmn2r8	UTSW	5	108797451	splice site	probably null
R0394:Vmn2r8	UTSW	5	108802072	missense	probably benign	0.12
R0501:Vmn2r8	UTSW	5	108803183	missense	probably benign	0.03
R0615:Vmn2r8	UTSW	5	108799329	missense	probably damaging	1.00
R0678:Vmn2r8	UTSW	5	108800546	missense	probably benign	0.00
R1167:Vmn2r8	UTSW	5	108803176	missense	probably benign	0.01
R1187:Vmn2r8	UTSW	5	108803219	nonsense	probably null
R1406:Vmn2r8	UTSW	5	108802368	missense	probably benign
R1406:Vmn2r8	UTSW	5	108802368	missense	probably benign
R1451:Vmn2r8	UTSW	5	108798067	missense	probably damaging	1.00
R1535:Vmn2r8	UTSW	5	108802174	missense	probably damaging	1.00
R1795:Vmn2r8	UTSW	5	108803106	missense	probably benign
R1874:Vmn2r8	UTSW	5	108802418	missense	possibly damaging	0.74
R1908:Vmn2r8	UTSW	5	108797570	missense	probably benign	0.03
R1925:Vmn2r8	UTSW	5	108802153	missense	probably damaging	0.97
R1960:Vmn2r8	UTSW	5	108799286	missense	probably damaging	0.99
R1961:Vmn2r8	UTSW	5	108798095	missense	probably benign	0.45
R1967:Vmn2r8	UTSW	5	108802383	missense	probably benign	0.01
R2095:Vmn2r8	UTSW	5	108808621	missense	possibly damaging	0.94
R2159:Vmn2r8	UTSW	5	108802303	missense	probably benign	0.22
R4240:Vmn2r8	UTSW	5	108797503	missense	probably damaging	0.99
R4581:Vmn2r8	UTSW	5	108801704	missense	probably benign	0.03
R4744:Vmn2r8	UTSW	5	108808581	missense	probably benign	0.00
R4755:Vmn2r8	UTSW	5	108801700	missense	probably benign	0.03
R4917:Vmn2r8	UTSW	5	108797398	missense	probably damaging	1.00
R4957:Vmn2r8	UTSW	5	108799263	missense	probably benign	0.16
R5141:Vmn2r8	UTSW	5	108808706	missense	probably damaging	0.96
R5481:Vmn2r8	UTSW	5	108801770	missense	probably benign	0.09
R5571:Vmn2r8	UTSW	5	108802240	missense	probably damaging	1.00
R5624:Vmn2r8	UTSW	5	108802459	missense	probably damaging	0.99
R6243:Vmn2r8	UTSW	5	108799345	missense	probably benign	0.01
R6265:Vmn2r8	UTSW	5	108808597	missense	probably benign
R6315:Vmn2r8	UTSW	5	108801891	missense	probably benign
R6413:Vmn2r8	UTSW	5	108801723	missense	probably benign	0.09
R7120:Vmn2r8	UTSW	5	108808638	missense	possibly damaging	0.56
R7406:Vmn2r8	UTSW	5	108800576	missense	probably benign	0.00
R7409:Vmn2r8	UTSW	5	108808583	nonsense	probably null
R7489:Vmn2r8	UTSW	5	108797656	missense	possibly damaging	0.95
R7532:Vmn2r8	UTSW	5	108802240	missense	probably benign	0.22
R7534:Vmn2r8	UTSW	5	108802174	missense	possibly damaging	0.94
R7739:Vmn2r8	UTSW	5	108802177	missense	probably damaging	1.00
R8099:Vmn2r8	UTSW	5	108801834	missense	probably benign
R8245:Vmn2r8	UTSW	5	108798070	missense	probably damaging	1.00
R8711:Vmn2r8	UTSW	5	108798096	missense	possibly damaging	0.89
R8781:Vmn2r8	UTSW	5	108797731	missense	possibly damaging	0.95
R8874:Vmn2r8	UTSW	5	108808751	missense	probably damaging	1.00
R8927:Vmn2r8	UTSW	5	108802265	missense
R8928:Vmn2r8	UTSW	5	108802265	missense
R9288:Vmn2r8	UTSW	5	108802319	missense	probably benign	0.39
R9596:Vmn2r8	UTSW	5	108799330	missense	possibly damaging	0.94
R9652:Vmn2r8	UTSW	5	108803241	missense	probably benign	0.18
Z1088:Vmn2r8	UTSW	5	108801998	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTGCTGCCCTACATTATAAGTAC -3'
(R):5'- TCCTCCCTTTATTGACAGAGAAAC -3'

Sequencing Primer
(F):5'- GGCAATTTATCTTTGTACTTCTGCAG -3'
(R):5'- CCCTTTATTGACAGAGAAACACAATC -3'

Posted On

2017-06-26