Mutagenetix > Incidental Mutation

Incidental Mutation 'R7532:Vmn2r8'

583358

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r8

Ensembl Gene

ENSMUSG00000090961

Gene Name

vomeronasal 2, receptor 8

Synonyms

EG627479

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7532 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108797193-108808754 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108802240 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 247 (Y247F)

Ref Sequence

ENSEMBL: ENSMUSP00000126953 (fasta)

Gene Model

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

AlphaFold

L7N472

Predicted Effect

probably benign
Transcript: ENSMUST00000172140
AA Change: Y247F

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126953
Gene: ENSMUSG00000090961
AA Change: Y247F

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	T	A	19: 53,232,158	I174K	probably damaging	Het
Ano2	A	T	6: 125,963,704	I597F	probably damaging	Het
Ap1g1	T	C	8: 109,860,164	V813A	probably damaging	Het
Bpnt1	A	T	1: 185,352,326	I207F	possibly damaging	Het
Brinp3	T	A	1: 146,901,401	W529R	probably damaging	Het
C2cd2l	C	T	9: 44,315,384	R355Q	probably benign	Het
Ccser1	T	A	6: 62,379,931	C784*	probably null	Het
Cdh7	A	T	1: 110,138,159	D721V	probably damaging	Het
Chd9	A	G	8: 90,994,565	I994V	unknown	Het
Cst13	T	G	2: 148,823,207	Y41D	probably benign	Het
Cyth2	C	T	7: 45,808,024	A342T	probably benign	Het
Dapk1	T	C	13: 60,730,886	L563P	probably damaging	Het
Dclk3	T	G	9: 111,467,528	S47A	probably benign	Het
Dync1h1	C	A	12: 110,651,577	N3183K	probably benign	Het
Enpp1	C	T	10: 24,675,987	V165M	probably benign	Het
Ephx3	T	C	17: 32,188,789	N173S	possibly damaging	Het
Erc1	T	A	6: 119,779,631	D388V	probably benign	Het
Esp34	T	G	17: 38,559,620	V135G	possibly damaging	Het
Gfy	G	A	7: 45,178,037	P212S	probably damaging	Het
Gm5239	C	T	18: 35,536,742	R54C	probably benign	Het
Gtpbp3	T	C	8: 71,489,463	F113L	probably benign	Het
Hectd1	T	A	12: 51,790,450	D775V	probably damaging	Het
Ifrd2	T	G	9: 107,592,522	S431R	probably damaging	Het
Impg2	G	A	16: 56,267,180	A1121T	probably damaging	Het
Irx1	A	G	13: 71,960,195	F123L	possibly damaging	Het
Itgb6	C	T	2: 60,669,213	V79I	probably benign	Het
Kcnd3	G	A	3: 105,668,210	R550H	probably damaging	Het
Klhl9	A	T	4: 88,720,853	S384T	possibly damaging	Het
Kng2	T	C	16: 23,027,044		probably null	Het
Lipo3	T	C	19: 33,583,064	N67S	possibly damaging	Het
Mgst1	T	C	6: 138,153,506	S78P	probably benign	Het
Ms4a14	A	G	19: 11,303,959	Y412H	possibly damaging	Het
Mucl2	A	C	15: 103,896,052	I124S	unknown	Het
Myh3	A	G	11: 67,091,095	M806V	probably benign	Het
Nelfcd	T	C	2: 174,426,396	L501P	probably damaging	Het
Nlrp6	C	A	7: 140,925,184	P748Q	probably benign	Het
Olfr341	C	T	2: 36,480,126	M1I	probably null	Het
Olfr430	T	C	1: 174,070,098	S267P	probably benign	Het
Plxna2	G	A	1: 194,644,819	A354T	probably benign	Het
Prpf39	G	T	12: 65,053,371	V273L	probably benign	Het
Rad9a	T	C	19: 4,201,523		probably benign	Het
Rnf135	A	G	11: 80,198,906	D356G	probably benign	Het
Rragd	G	T	4: 33,004,166	A153S	possibly damaging	Het
Selenot	G	T	3: 58,585,232	V47L	probably benign	Het
Smc2	T	C	4: 52,451,013	L277P	probably damaging	Het
Sp7	A	G	15: 102,359,149	F92S	possibly damaging	Het
Spata1	A	T	3: 146,468,191	I380N	possibly damaging	Het
Spdye4b	G	T	5: 143,194,897	R39S	possibly damaging	Het
Stom	C	A	2: 35,321,577	R144L	possibly damaging	Het
Tex37	T	C	6: 70,913,637	K57R	probably benign	Het
Tsc22d1	T	C	14: 76,416,046		probably benign	Het
Unc13b	A	G	4: 43,249,565	T998A	probably benign	Het
Vcl	C	A	14: 21,029,324	A965D	probably damaging	Het
Vmn1r69	A	T	7: 10,580,354	V150D	probably damaging	Het
Vmn1r90	T	G	7: 14,561,264	N303T	possibly damaging	Het
Vmn2r69	A	T	7: 85,410,414	M429K	probably benign	Het
Washc5	A	T	15: 59,367,411	S168T	possibly damaging	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
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
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'- TGGTGGTGTTCAAAAGTAACAGTC -3'
(R):5'- ACATACTTGTCCCATGCCATG -3'

Sequencing Primer
(F):5'- GTGTTCAAAAGTAACAGTCCCATGG -3'
(R):5'- ATGCCATGGTCTCCTTGATG -3'

Posted On

2019-10-17