Mutagenetix > Incidental Mutation

Incidental Mutation 'R5907:Or6n1'

460677

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

044104-MU

Accession Numbers

Essential gene?

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

Stock #

R5907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

173916604-173917546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 173916785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 60 (Y60H)

Ref Sequence

ENSEMBL: ENSMUSP00000149257 (fasta)

Gene Model

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

AlphaFold

Q7TRW1

Predicted Effect

probably benign
Transcript: ENSMUST00000060693
AA Change: Y60H

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000051323
Gene: ENSMUSG00000049528
AA Change: Y60H

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 benign
Transcript: ENSMUST00000193320
AA Change: Y60H

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000142323
Gene: ENSMUSG00000049528
AA Change: Y60H

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 benign
Transcript: ENSMUST00000216346
AA Change: Y60H

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.4527

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.7%

Validation Efficiency

93% (92/99)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,218,120 (GRCm39)	I206N	probably damaging	Het
Aadac	T	A	3: 59,947,248 (GRCm39)	D315E	probably damaging	Het
Abcc8	A	G	7: 45,773,330 (GRCm39)	F800L	probably benign	Het
Adamts16	C	A	13: 70,877,029 (GRCm39)	C1204F	probably damaging	Het
Adcy7	A	G	8: 89,038,856 (GRCm39)	T291A	possibly damaging	Het
AI182371	G	T	2: 34,976,134 (GRCm39)	Q255K	possibly damaging	Het
Aig1	A	T	10: 13,677,528 (GRCm39)		probably benign	Het
Ak5	T	C	3: 152,321,589 (GRCm39)	D266G	probably damaging	Het
Ank1	A	T	8: 23,630,220 (GRCm39)	E93D	probably damaging	Het
Bop1	T	C	15: 76,340,117 (GRCm39)	D153G	probably damaging	Het
Bub1	G	T	2: 127,661,142 (GRCm39)	N316K	probably benign	Het
Capn1	T	C	19: 6,047,827 (GRCm39)	N412S	probably benign	Het
Cdca4	A	G	12: 112,785,339 (GRCm39)	S130P	probably benign	Het
Cdh23	A	T	10: 60,264,158 (GRCm39)	D663E	probably damaging	Het
Clca3a1	T	C	3: 144,455,403 (GRCm39)		probably benign	Het
Csmd2	C	T	4: 128,091,178 (GRCm39)	P239L	probably damaging	Het
Dlg2	A	T	7: 91,646,579 (GRCm39)		probably benign	Het
Dnpep	C	T	1: 75,288,635 (GRCm39)		probably null	Het
Dop1b	A	T	16: 93,598,469 (GRCm39)	H1878L	probably damaging	Het
Dscam	C	T	16: 96,622,120 (GRCm39)	D444N	probably damaging	Het
Emc9	C	T	14: 55,819,569 (GRCm39)		probably null	Het
Ero1b	T	A	13: 12,615,207 (GRCm39)	I346N	probably damaging	Het
Etv3	A	G	3: 87,442,850 (GRCm39)	T145A	probably benign	Het
Fam170a	T	A	18: 50,415,321 (GRCm39)		probably null	Het
Fap	A	T	2: 62,374,700 (GRCm39)	I261N	probably damaging	Het
Fbn2	T	C	18: 58,178,409 (GRCm39)	N1943S	probably damaging	Het
Glb1l3	A	T	9: 26,737,679 (GRCm39)	V466E	probably damaging	Het
Gm10521	A	T	1: 171,724,070 (GRCm39)	H127L	unknown	Het
Gm8186	G	T	17: 26,318,130 (GRCm39)	N22K	probably damaging	Het
Gpr132	A	C	12: 112,815,717 (GRCm39)	L370V	probably benign	Het
Hectd1	A	T	12: 51,845,537 (GRCm39)	H449Q	probably damaging	Het
Hook3	A	G	8: 26,534,306 (GRCm39)		probably benign	Het
Ift140	A	G	17: 25,311,345 (GRCm39)	D1180G	probably benign	Het
Isoc2b	A	T	7: 4,852,577 (GRCm39)		probably null	Het
Itga4	C	T	2: 79,153,000 (GRCm39)	H896Y	probably benign	Het
Itga7	T	C	10: 128,778,850 (GRCm39)	Y326H	probably damaging	Het
Itpr3	A	T	17: 27,336,867 (GRCm39)	E2397V	probably damaging	Het
Jtb	T	G	3: 90,142,884 (GRCm39)		probably null	Het
Klk15	A	G	7: 43,588,183 (GRCm39)	T164A	probably benign	Het
Kmt2e	C	A	5: 23,669,704 (GRCm39)	H64N	probably damaging	Het
Lamtor3	T	A	3: 137,633,054 (GRCm39)		probably benign	Het
Laptm4b	A	G	15: 34,258,830 (GRCm39)	I35V	possibly damaging	Het
Lrrc1	A	C	9: 77,341,379 (GRCm39)	L393R	probably damaging	Het
Ltn1	A	G	16: 87,178,391 (GRCm39)	S1613P	possibly damaging	Het
Mtmr4	T	A	11: 87,502,876 (GRCm39)	W920R	probably damaging	Het
Nbeal1	T	C	1: 60,267,950 (GRCm39)		probably benign	Het
Nup133	A	G	8: 124,643,038 (GRCm39)	Y761H	possibly damaging	Het
Nwd2	T	A	5: 63,963,326 (GRCm39)	V970D	probably damaging	Het
Or4c126	A	G	2: 89,824,301 (GRCm39)	H188R	probably benign	Het
Or8k24	A	T	2: 86,216,218 (GRCm39)	S181R	probably damaging	Het
Osbp	C	T	19: 11,951,240 (GRCm39)	L262F	probably damaging	Het
Phf8-ps	G	T	17: 33,285,124 (GRCm39)	D559E	probably benign	Het
Phldb2	G	T	16: 45,645,551 (GRCm39)	D343E	probably damaging	Het
Phrf1	T	A	7: 140,840,453 (GRCm39)	M1216K	possibly damaging	Het
Phyh	A	T	2: 4,935,462 (GRCm39)		probably null	Het
Plekhf1	A	T	7: 37,921,594 (GRCm39)		probably null	Het
Rars1	T	C	11: 35,719,475 (GRCm39)	N116D	probably damaging	Het
Rnf44	T	A	13: 54,830,621 (GRCm39)	Q181L	possibly damaging	Het
Rpe65	T	C	3: 159,321,319 (GRCm39)		probably null	Het
Scaf1	A	G	7: 44,663,016 (GRCm39)		probably benign	Het
Serpinb11	A	T	1: 107,299,919 (GRCm39)	R88S	probably benign	Het
Slc7a7	T	C	14: 54,616,560 (GRCm39)	N174S	probably damaging	Het
Slc9a5	T	C	8: 106,083,807 (GRCm39)		probably null	Het
Slfn1	C	A	11: 83,012,002 (GRCm39)	N39K	possibly damaging	Het
Snx20	G	A	8: 89,353,923 (GRCm39)	A269V	possibly damaging	Het
Snx6	A	G	12: 54,801,104 (GRCm39)	Y298H	probably damaging	Het
Stk32c	C	T	7: 138,700,590 (GRCm39)	R213Q	probably benign	Het
Tgfbr1	A	T	4: 47,396,555 (GRCm39)	I190F	probably damaging	Het
Ube2d2b	T	A	5: 107,978,498 (GRCm39)	F50I	probably damaging	Het
Ubl5	G	A	9: 20,557,830 (GRCm39)		probably benign	Het
Ubqln5	T	G	7: 103,777,781 (GRCm39)	T348P	possibly damaging	Het
Usp46	T	C	5: 74,197,746 (GRCm39)	D22G	probably benign	Het
Vars1	A	G	17: 35,231,352 (GRCm39)	N655S	probably damaging	Het
Vmn2r103	A	C	17: 20,032,715 (GRCm39)	I830L	possibly damaging	Het
Vmn2r26	T	A	6: 124,016,830 (GRCm39)	N431K	probably benign	Het
Vmn2r4	G	T	3: 64,298,487 (GRCm39)	P547Q	probably damaging	Het
Yy1	T	A	12: 108,772,354 (GRCm39)		probably benign	Het
Zbtb2	A	T	10: 4,318,592 (GRCm39)	L478Q	possibly damaging	Het
Zfp12	T	C	5: 143,225,743 (GRCm39)	F17S	probably damaging	Het
Zfp219	T	A	14: 52,244,606 (GRCm39)		probably null	Het
Zfp629	G	A	7: 127,209,542 (GRCm39)	H756Y	probably damaging	Het
Zfp748	T	C	13: 67,689,292 (GRCm39)	K656R	possibly damaging	Het
Zfp958	T	A	8: 4,679,072 (GRCm39)	Y366N	probably benign	Het
Zp3	C	T	5: 136,017,377 (GRCm39)	T396I	probably benign	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
R0267:Or6n1	UTSW	1	173,916,732 (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
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'- CAATGGGCACTGGAAACTGG -3'
(R):5'- CAAAGTGACTGGGTCATTAGGG -3'

Sequencing Primer
(F):5'- CTGGAGCCAAGTAATAGAATTCATC -3'
(R):5'- CTGCAAATGGCTAAGTACCTGTC -3'

Posted On

2017-02-28