Mutagenetix > Incidental Mutation

Incidental Mutation 'R4240:Vmn2r8'

320156

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r8

Ensembl Gene

ENSMUSG00000090961

Gene Name

vomeronasal 2, receptor 8

Synonyms

EG627479

MMRRC Submission

041057-MU

Accession Numbers

Essential gene?

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

Stock #

R4240 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108797193-108808754 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108797503 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 746 (V746D)

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: V746D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126953
Gene: ENSMUSG00000090961
AA Change: V746D

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.7%

Validation Efficiency

93% (50/54)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310050C09Rik	T	C	3: 92,868,591	I262V	possibly damaging	Het
4833420G17Rik	C	T	13: 119,466,942	P93S	probably benign	Het
4930488N24Rik	A	T	17: 14,105,787		noncoding transcript	Het
Areg	A	T	5: 91,143,516	N106I	probably damaging	Het
Ceacam3	G	A	7: 17,160,024	E487K	possibly damaging	Het
Cfap46	G	T	7: 139,666,287	Q387K	possibly damaging	Het
Cfap74	C	A	4: 155,463,072	H1238Q	probably benign	Het
Cnot6l	T	C	5: 96,077,362	T491A	probably benign	Het
Cog7	C	T	7: 121,925,484	V696M	possibly damaging	Het
Col22a1	C	T	15: 72,007,131	G59D	probably damaging	Het
Ddi1	A	G	9: 6,265,799	M190T	probably benign	Het
Eno1b	T	A	18: 48,047,840	S362T	probably benign	Het
Erbb2	A	G	11: 98,428,043	K549R	probably benign	Het
Fam170a	A	T	18: 50,281,667	M127L	possibly damaging	Het
Gm17677	T	A	9: 35,742,153	Y84*	probably null	Het
Gm1979	T	C	5: 26,001,121	T154A	probably benign	Het
Gm6871	G	T	7: 41,545,780	T511K	probably damaging	Het
Hsf4	A	G	8: 105,274,881	T378A	possibly damaging	Het
Irf2bpl	C	A	12: 86,882,917	Q327H	possibly damaging	Het
Klk6	A	G	7: 43,829,173	H168R	probably benign	Het
Kmt2d	G	A	15: 98,844,571		probably benign	Het
Lad1	T	A	1: 135,827,295	V103D	possibly damaging	Het
Mcm4	A	T	16: 15,627,706	Y692*	probably null	Het
Med15	C	T	16: 17,655,494	R497H	probably damaging	Het
Mfrp	T	C	9: 44,102,866	V177A	possibly damaging	Het
Mr1	T	C	1: 155,136,667	E167G	probably damaging	Het
Myo18b	A	G	5: 112,803,187		probably null	Het
Myom2	A	G	8: 15,132,895	D1444G	probably benign	Het
Nes	C	A	3: 87,979,359	P1598T	probably damaging	Het
Nlrp4d	A	T	7: 10,381,316	H479Q	noncoding transcript	Het
Nphp4	A	G	4: 152,555,684	D1009G	probably benign	Het
Olfr539	A	G	7: 140,667,583	N99D	probably benign	Het
Phactr1	T	A	13: 43,094,887	N437K	possibly damaging	Het
Polq	G	T	16: 37,013,181	V79F	probably damaging	Het
Prc1	G	A	7: 80,311,216		probably benign	Het
Rdh7	T	C	10: 127,885,802	I202V	probably benign	Het
Rsf1	C	CGGCGGCGGT	7: 97,579,935		probably benign	Het
Sgsm3	A	G	15: 81,011,782		probably benign	Het
Sipa1l2	T	C	8: 125,491,656	E314G	probably benign	Het
Slc8a3	T	C	12: 81,315,176	K290E	probably damaging	Het
Tbc1d17	T	C	7: 44,846,826	Y84C	probably damaging	Het
Usp46	T	G	5: 74,032,267		probably benign	Het
Vmn2r14	T	G	5: 109,216,411		probably null	Het
Xdh	A	G	17: 73,895,795	V1120A	possibly damaging	Het
Zbtb38	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTCTTC	9: 96,686,102		probably benign	Het
Zfp791	T	C	8: 85,109,666	H523R	probably null	Het
Zfp870	A	G	17: 32,885,736	I53T	probably benign	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
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
R6003:Vmn2r8	UTSW	5	108797382	missense	probably damaging	1.00
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'- CCTGCACTAGAAGCCAAGATG -3'
(R):5'- TCAAGCTCACTACTCCAGGG -3'

Sequencing Primer
(F):5'- CTAGAAGCCAAGATGGAGAAAACCTC -3'
(R):5'- CTACTCCAGGGAGAAGGATGAG -3'

Posted On

2015-06-12