Mutagenetix > Incidental Mutation

Incidental Mutation 'R7532:Or6n2'

583343

Institutional Source

Beutler Lab

Gene Symbol

Or6n2

Ensembl Gene

ENSMUSG00000050134

Gene Name

olfactory receptor family 6 subfamily N member 2

Synonyms

GA_x6K02T2P20D-21108443-21107490, MOR105-5P, Olfr430

MMRRC Submission

045604-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R7532 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

173896866-173897819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 173897664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 267 (S267P)

Ref Sequence

ENSEMBL: ENSMUSP00000150451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055873] [ENSMUST00000213425] [ENSMUST00000214390]

AlphaFold

E9Q5F1

Predicted Effect

probably benign
Transcript: ENSMUST00000055873
AA Change: S267P

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130615
Gene: ENSMUSG00000050134
AA Change: S267P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.4e-65	PFAM
Pfam:7tm_1	41	290	9.9e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213425
AA Change: S267P

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000214390
AA Change: S267P

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

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: 53,220,589 (GRCm39)	I174K	probably damaging	Het
Ano2	A	T	6: 125,940,667 (GRCm39)	I597F	probably damaging	Het
Ap1g1	T	C	8: 110,586,796 (GRCm39)	V813A	probably damaging	Het
Bpnt1	A	T	1: 185,084,523 (GRCm39)	I207F	possibly damaging	Het
Brinp3	T	A	1: 146,777,139 (GRCm39)	W529R	probably damaging	Het
C2cd2l	C	T	9: 44,226,681 (GRCm39)	R355Q	probably benign	Het
Ccser1	T	A	6: 62,356,915 (GRCm39)	C784*	probably null	Het
Cdh20	A	T	1: 110,065,889 (GRCm39)	D721V	probably damaging	Het
Chd9	A	G	8: 91,721,193 (GRCm39)	I994V	unknown	Het
Cst13	T	G	2: 148,665,127 (GRCm39)	Y41D	probably benign	Het
Cyth2	C	T	7: 45,457,448 (GRCm39)	A342T	probably benign	Het
Dapk1	T	C	13: 60,878,700 (GRCm39)	L563P	probably damaging	Het
Dclk3	T	G	9: 111,296,596 (GRCm39)	S47A	probably benign	Het
Dync1h1	C	A	12: 110,618,011 (GRCm39)	N3183K	probably benign	Het
Enpp1	C	T	10: 24,551,885 (GRCm39)	V165M	probably benign	Het
Ephx3	T	C	17: 32,407,763 (GRCm39)	N173S	possibly damaging	Het
Erc1	T	A	6: 119,756,592 (GRCm39)	D388V	probably benign	Het
Esp34	T	G	17: 38,870,511 (GRCm39)	V135G	possibly damaging	Het
Gfy	G	A	7: 44,827,461 (GRCm39)	P212S	probably damaging	Het
Gm5239	C	T	18: 35,669,795 (GRCm39)	R54C	probably benign	Het
Gtpbp3	T	C	8: 71,942,107 (GRCm39)	F113L	probably benign	Het
Hectd1	T	A	12: 51,837,233 (GRCm39)	D775V	probably damaging	Het
Ifrd2	T	G	9: 107,469,721 (GRCm39)	S431R	probably damaging	Het
Impg2	G	A	16: 56,087,543 (GRCm39)	A1121T	probably damaging	Het
Irx1	A	G	13: 72,108,314 (GRCm39)	F123L	possibly damaging	Het
Itgb6	C	T	2: 60,499,557 (GRCm39)	V79I	probably benign	Het
Kcnd3	G	A	3: 105,575,526 (GRCm39)	R550H	probably damaging	Het
Klhl9	A	T	4: 88,639,090 (GRCm39)	S384T	possibly damaging	Het
Kng2	T	C	16: 22,845,794 (GRCm39)		probably null	Het
Lipo3	T	C	19: 33,560,464 (GRCm39)	N67S	possibly damaging	Het
Mgst1	T	C	6: 138,130,504 (GRCm39)	S78P	probably benign	Het
Ms4a14	A	G	19: 11,281,323 (GRCm39)	Y412H	possibly damaging	Het
Mucl2	A	C	15: 103,926,318 (GRCm39)	I124S	unknown	Het
Myh3	A	G	11: 66,981,921 (GRCm39)	M806V	probably benign	Het
Nelfcd	T	C	2: 174,268,189 (GRCm39)	L501P	probably damaging	Het
Nlrp6	C	A	7: 140,505,097 (GRCm39)	P748Q	probably benign	Het
Or1j13	C	T	2: 36,370,138 (GRCm39)	M1I	probably null	Het
Plxna2	G	A	1: 194,327,127 (GRCm39)	A354T	probably benign	Het
Prpf39	G	T	12: 65,100,145 (GRCm39)	V273L	probably benign	Het
Rad9a	T	C	19: 4,251,522 (GRCm39)		probably benign	Het
Rnf135	A	G	11: 80,089,732 (GRCm39)	D356G	probably benign	Het
Rragd	G	T	4: 33,004,166 (GRCm39)	A153S	possibly damaging	Het
Selenot	G	T	3: 58,492,653 (GRCm39)	V47L	probably benign	Het
Smc2	T	C	4: 52,451,013 (GRCm39)	L277P	probably damaging	Het
Sp7	A	G	15: 102,267,584 (GRCm39)	F92S	possibly damaging	Het
Spata1	A	T	3: 146,173,946 (GRCm39)	I380N	possibly damaging	Het
Spdye4b	G	T	5: 143,180,652 (GRCm39)	R39S	possibly damaging	Het
Spmip9	T	C	6: 70,890,621 (GRCm39)	K57R	probably benign	Het
Stom	C	A	2: 35,211,589 (GRCm39)	R144L	possibly damaging	Het
Tsc22d1	T	C	14: 76,653,486 (GRCm39)		probably benign	Het
Unc13b	A	G	4: 43,249,565 (GRCm39)	T998A	probably benign	Het
Vcl	C	A	14: 21,079,392 (GRCm39)	A965D	probably damaging	Het
Vmn1r69	A	T	7: 10,314,281 (GRCm39)	V150D	probably damaging	Het
Vmn1r90	T	G	7: 14,295,189 (GRCm39)	N303T	possibly damaging	Het
Vmn2r69	A	T	7: 85,059,622 (GRCm39)	M429K	probably benign	Het
Vmn2r8	T	A	5: 108,950,106 (GRCm39)	Y247F	probably benign	Het
Washc5	A	T	15: 59,239,260 (GRCm39)	S168T	possibly damaging	Het

Other mutations in Or6n2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Or6n2	APN	1	173,897,632 (GRCm39)	missense	probably benign	0.00
IGL02279:Or6n2	APN	1	173,896,957 (GRCm39)	missense	probably null	1.00
IGL02537:Or6n2	APN	1	173,897,020 (GRCm39)	missense	possibly damaging	0.63
R0323:Or6n2	UTSW	1	173,896,893 (GRCm39)	missense	probably benign
R0627:Or6n2	UTSW	1	173,897,643 (GRCm39)	missense	probably damaging	1.00
R1079:Or6n2	UTSW	1	173,897,032 (GRCm39)	missense	possibly damaging	0.95
R1757:Or6n2	UTSW	1	173,897,224 (GRCm39)	missense	probably damaging	1.00
R1902:Or6n2	UTSW	1	173,897,692 (GRCm39)	missense	probably damaging	0.96
R3804:Or6n2	UTSW	1	173,897,474 (GRCm39)	missense	probably damaging	1.00
R3927:Or6n2	UTSW	1	173,896,878 (GRCm39)	missense	probably damaging	1.00
R3930:Or6n2	UTSW	1	173,897,147 (GRCm39)	missense	probably damaging	1.00
R3931:Or6n2	UTSW	1	173,897,147 (GRCm39)	missense	probably damaging	1.00
R4111:Or6n2	UTSW	1	173,896,999 (GRCm39)	missense	probably damaging	1.00
R4210:Or6n2	UTSW	1	173,897,574 (GRCm39)	missense	probably damaging	0.98
R4383:Or6n2	UTSW	1	173,897,043 (GRCm39)	missense	probably benign	0.34
R4651:Or6n2	UTSW	1	173,897,394 (GRCm39)	missense	possibly damaging	0.54
R5097:Or6n2	UTSW	1	173,897,095 (GRCm39)	missense	probably benign	0.22
R5385:Or6n2	UTSW	1	173,897,036 (GRCm39)	missense	probably benign	0.31
R5722:Or6n2	UTSW	1	173,897,436 (GRCm39)	missense	probably damaging	1.00
R6608:Or6n2	UTSW	1	173,897,295 (GRCm39)	missense	probably benign	0.00
R6643:Or6n2	UTSW	1	173,897,611 (GRCm39)	missense	probably damaging	1.00
R7316:Or6n2	UTSW	1	173,897,727 (GRCm39)	missense	probably benign	0.00
R8141:Or6n2	UTSW	1	173,897,488 (GRCm39)	missense	probably damaging	0.99
R9102:Or6n2	UTSW	1	173,897,176 (GRCm39)	missense	probably damaging	1.00
R9351:Or6n2	UTSW	1	173,897,021 (GRCm39)	missense	probably benign	0.00
Z1088:Or6n2	UTSW	1	173,897,515 (GRCm39)	missense	probably damaging	1.00
Z1176:Or6n2	UTSW	1	173,897,080 (GRCm39)	missense	probably damaging	0.99
Z1176:Or6n2	UTSW	1	173,896,897 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGGACTTTGCTGTCAATGCC -3'
(R):5'- TGCTCAAGTGAAAGGAGTCTAG -3'

Sequencing Primer
(F):5'- GCTGTCAATGCCTTCATTATCC -3'
(R):5'- ATGGGATTGGCCAAAGGT -3'

Posted On

2019-10-17