Mutagenetix > Incidental Mutation

Incidental Mutation 'R0267:Or6n1'

34973

Institutional Source

Beutler Lab

Gene Symbol

Or6n1

Ensembl Gene

ENSMUSG00000049528

Gene Name

olfactory receptor family 6 subfamily N member 1

Synonyms

Olfr429, GA_x6K02T2P20D-21090094-21089156, MOR105-1

MMRRC Submission

038493-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R0267 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

173916604-173917546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 173916732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 42 (N42S)

Ref Sequence

ENSEMBL: ENSMUSP00000149257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060693] [ENSMUST00000216346]

AlphaFold

Q7TRW1

Predicted Effect

probably damaging
Transcript: ENSMUST00000060693
AA Change: N42S

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

SMART Domains

Protein: ENSMUSP00000051323
Gene: ENSMUSG00000049528
AA Change: N42S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.2e-65	PFAM
Pfam:7tm_1	41	290	1.3e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000193320
AA Change: N42S

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

SMART Domains

Protein: ENSMUSP00000142323
Gene: ENSMUSG00000049528
AA Change: N42S

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
Pfam:7tm_1	41	290	8.9e-31	PFAM
Pfam:7tm_4	139	283	6.7e-43	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216346
AA Change: N42S

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

Meta Mutation Damage Score

0.4853

Coding Region Coverage

1x: 98.6%
3x: 97.7%
10x: 96.2%
20x: 94.0%

Validation Efficiency

97% (64/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,105 (GRCm39)	F1721S	probably damaging	Het
Adgrb1	G	A	15: 74,401,238 (GRCm39)	R78H	probably damaging	Het
Adgrd1	G	A	5: 129,216,658 (GRCm39)	A342T	probably benign	Het
Adrb1	A	T	19: 56,711,923 (GRCm39)	K374*	probably null	Het
Aldh18a1	C	A	19: 40,562,233 (GRCm39)	V264F	probably benign	Het
Aldh1l2	C	T	10: 83,358,551 (GRCm39)		probably benign	Het
Alox15	T	A	11: 70,236,979 (GRCm39)	H393L	probably damaging	Het
Aox1	A	G	1: 58,378,605 (GRCm39)		probably benign	Het
Appbp2	T	C	11: 85,092,288 (GRCm39)	Y297C	probably damaging	Het
Atxn2l	T	G	7: 126,092,379 (GRCm39)	Q950P	probably damaging	Het
Bicd1	A	T	6: 149,418,540 (GRCm39)	D737V	probably damaging	Het
C9	T	C	15: 6,496,939 (GRCm39)	I212T	probably benign	Het
Ccdc63	A	T	5: 122,255,107 (GRCm39)		probably benign	Het
Chst1	C	A	2: 92,443,951 (GRCm39)	P141Q	probably damaging	Het
Cped1	T	A	6: 22,119,475 (GRCm39)	F311L	probably damaging	Het
D6Wsu163e	T	A	6: 126,923,454 (GRCm39)	H113Q	probably benign	Het
Dcn	A	T	10: 97,342,345 (GRCm39)		probably benign	Het
Dmbx1	C	T	4: 115,775,309 (GRCm39)	A324T	probably benign	Het
Dock10	G	T	1: 80,490,171 (GRCm39)	Q1618K	probably damaging	Het
Dpyd	A	G	3: 118,710,921 (GRCm39)	E443G	probably benign	Het
Espl1	T	C	15: 102,221,452 (GRCm39)	V953A	possibly damaging	Het
Exosc10	T	C	4: 148,647,213 (GRCm39)	L174P	probably damaging	Het
Foxg1	A	G	12: 49,432,365 (GRCm39)	Y366C	probably damaging	Het
Fxyd3	T	C	7: 30,770,159 (GRCm39)		probably benign	Het
Gbp2	T	C	3: 142,335,867 (GRCm39)	V189A	probably benign	Het
Gins4	T	C	8: 23,719,426 (GRCm39)		probably benign	Het
Gm12789	A	G	4: 101,845,319 (GRCm39)	T3A	probably benign	Het
Gnb1l	T	C	16: 18,366,839 (GRCm39)		probably benign	Het
Gtpbp3	T	C	8: 71,944,141 (GRCm39)	L295S	probably damaging	Het
Hrh4	C	A	18: 13,155,455 (GRCm39)	Y331*	probably null	Het
Hsd11b1	A	T	1: 192,923,705 (GRCm39)	Y52N	probably damaging	Het
Jam3	A	G	9: 27,017,701 (GRCm39)	I29T	probably benign	Het
Kctd16	T	A	18: 40,663,930 (GRCm39)	I353N	probably benign	Het
Lama4	G	T	10: 38,904,635 (GRCm39)	G246C	probably damaging	Het
Lhx3	T	A	2: 26,093,040 (GRCm39)	M137L	probably benign	Het
Morc2a	T	C	11: 3,628,567 (GRCm39)	I340T	probably benign	Het
Myo7a	A	C	7: 97,703,831 (GRCm39)	I1969S	probably benign	Het
Or14a258	T	C	7: 86,035,475 (GRCm39)	E131G	possibly damaging	Het
Or5b116	T	A	19: 13,422,792 (GRCm39)	C139S	probably damaging	Het
Pclo	T	C	5: 14,731,194 (GRCm39)	L3232P	unknown	Het
Polr1a	T	G	6: 71,951,123 (GRCm39)	I1407M	probably damaging	Het
Ppip5k2	A	G	1: 97,656,722 (GRCm39)	V817A	probably damaging	Het
Rbfox3	T	C	11: 118,386,066 (GRCm39)	T280A	probably benign	Het
Rfx3	T	C	19: 27,771,188 (GRCm39)	D521G	probably benign	Het
Scn5a	C	T	9: 119,372,201 (GRCm39)	V223I	probably damaging	Het
Sgsm3	T	G	15: 80,890,803 (GRCm39)	M119R	probably damaging	Het
Slc6a7	T	A	18: 61,129,783 (GRCm39)	M608L	probably benign	Het
Slit2	A	G	5: 48,339,673 (GRCm39)		probably benign	Het
Steap2	T	A	5: 5,723,561 (GRCm39)	I440F	probably benign	Het
Syn2	T	G	6: 115,231,111 (GRCm39)		probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tfb2m	G	A	1: 179,361,203 (GRCm39)	H262Y	probably benign	Het
Trmt1l	A	G	1: 151,333,426 (GRCm39)		probably benign	Het
Trpm6	C	A	19: 18,800,742 (GRCm39)	P819T	probably benign	Het
Ttn	G	A	2: 76,574,033 (GRCm39)	A25620V	probably damaging	Het
Ubn2	T	C	6: 38,459,553 (GRCm39)		probably null	Het
Vars1	T	C	17: 35,230,572 (GRCm39)		probably benign	Het
Vip	A	T	10: 5,594,004 (GRCm39)	D119V	possibly damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Vps33b	T	C	7: 79,935,802 (GRCm39)	I405T	possibly damaging	Het
Zbtb21	T	A	16: 97,753,300 (GRCm39)	S356C	probably damaging	Het
Zdhhc6	A	T	19: 55,297,362 (GRCm39)	S237T	probably benign	Het
Zfp142	G	A	1: 74,615,223 (GRCm39)	A427V	probably benign	Het
Zfp692	T	A	11: 58,205,140 (GRCm39)	V463E	possibly damaging	Het
Zmynd8	A	T	2: 165,670,322 (GRCm39)	I384N	probably damaging	Het

Other mutations in Or6n1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01626:Or6n1	APN	1	173,917,122 (GRCm39)	missense	probably damaging	1.00
IGL01868:Or6n1	APN	1	173,916,936 (GRCm39)	missense	possibly damaging	0.83
IGL01972:Or6n1	APN	1	173,916,987 (GRCm39)	missense	probably damaging	0.99
IGL02412:Or6n1	APN	1	173,916,809 (GRCm39)	missense	probably benign	0.00
IGL02628:Or6n1	APN	1	173,916,756 (GRCm39)	missense	probably benign
IGL02861:Or6n1	APN	1	173,916,602 (GRCm39)	utr 5 prime	probably benign
IGL03404:Or6n1	APN	1	173,917,464 (GRCm39)	missense	probably damaging	1.00
R0357:Or6n1	UTSW	1	173,916,675 (GRCm39)	missense	possibly damaging	0.71
R1499:Or6n1	UTSW	1	173,916,813 (GRCm39)	nonsense	probably null
R2051:Or6n1	UTSW	1	173,916,785 (GRCm39)	missense	possibly damaging	0.95
R4706:Or6n1	UTSW	1	173,917,268 (GRCm39)	missense	probably damaging	1.00
R4820:Or6n1	UTSW	1	173,916,742 (GRCm39)	missense	possibly damaging	0.95
R5439:Or6n1	UTSW	1	173,917,541 (GRCm39)	missense	probably benign	0.01
R5538:Or6n1	UTSW	1	173,917,544 (GRCm39)	makesense	probably null
R5907:Or6n1	UTSW	1	173,916,785 (GRCm39)	missense	probably benign	0.08
R6932:Or6n1	UTSW	1	173,917,316 (GRCm39)	missense	probably damaging	0.96
R7808:Or6n1	UTSW	1	173,917,417 (GRCm39)	nonsense	probably null
R8040:Or6n1	UTSW	1	173,916,723 (GRCm39)	missense	possibly damaging	0.68
R8467:Or6n1	UTSW	1	173,917,007 (GRCm39)	missense	probably benign	0.00
R9124:Or6n1	UTSW	1	173,917,341 (GRCm39)	missense	probably damaging	1.00
R9797:Or6n1	UTSW	1	173,917,356 (GRCm39)	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- TCCTTGATTGGATGCCAATGGCTAC -3'
(R):5'- GGCCTGCAAATGGCTAAGTACCTG -3'

Sequencing Primer
(F):5'- GGATGCCAATGGCTACTTTCTC -3'
(R):5'- GGTAGCACTCAGTAGCTCCAAG -3'

Posted On

2013-05-09