Mutagenetix > Incidental Mutation

Incidental Mutation 'R9445:Or2n1'

713919

Institutional Source

Beutler Lab

Gene Symbol

Or2n1

Ensembl Gene

ENSMUSG00000096009

Gene Name

olfactory receptor family 2 subfamily N member 1

Synonyms

GA_x6K02T2PSCP-2623613-2624551, MOR256-5, Olfr134

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R9445 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38485977-38486915 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 38486694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 240 (T240P)

Ref Sequence

ENSEMBL: ENSMUSP00000151069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074883] [ENSMUST00000215900]

AlphaFold

Q8VG95

Predicted Effect

probably damaging
Transcript: ENSMUST00000074883
AA Change: T240P

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

SMART Domains

Protein: ENSMUSP00000074423
Gene: ENSMUSG00000096009
AA Change: T240P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.4e-50	PFAM
Pfam:7tm_1	41	290	2e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215900
AA Change: T240P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (72/73)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	T	A	14: 41,818,174 (GRCm39)	H23Q	possibly damaging	Het
Abca14	T	C	7: 119,877,691 (GRCm39)	S1069P	probably benign	Het
Abo	A	G	2: 26,733,720 (GRCm39)	W160R	probably damaging	Het
Adgrb1	A	T	15: 74,435,807 (GRCm39)		probably benign	Het
Ahnak2	T	C	12: 112,745,978 (GRCm39)	Q1624R		Het
Amy2a1	T	A	3: 113,325,324 (GRCm39)	N90I	possibly damaging	Het
Bod1l	C	T	5: 41,974,619 (GRCm39)	V2232I	probably benign	Het
Brsk2	T	A	7: 141,538,149 (GRCm39)	H98Q	probably damaging	Het
Caskin2	C	T	11: 115,694,576 (GRCm39)	V342I	probably damaging	Het
Ccdc13	T	C	9: 121,627,156 (GRCm39)	N707S	probably benign	Het
Cdv3	T	C	9: 103,241,240 (GRCm39)	E109G	probably damaging	Het
Coro2a	C	T	4: 46,540,558 (GRCm39)	E454K	probably benign	Het
Cpq	A	T	15: 33,213,391 (GRCm39)	I137F	possibly damaging	Het
Ctsj	G	A	13: 61,151,838 (GRCm39)	T73I	possibly damaging	Het
Dchs2	A	G	3: 83,146,284 (GRCm39)	D710G	probably damaging	Het
Drd4	T	C	7: 140,872,162 (GRCm39)	V71A	probably damaging	Het
Eef2k	T	C	7: 120,457,694 (GRCm39)	C18R	probably benign	Het
Ercc4	C	A	16: 12,945,474 (GRCm39)	D386E	probably benign	Het
F2rl2	A	C	13: 95,837,622 (GRCm39)	L222F	probably benign	Het
Fkbp4	T	C	6: 128,413,580 (GRCm39)	D68G	probably damaging	Het
Fsip2	A	T	2: 82,806,132 (GRCm39)	D817V	probably damaging	Het
Gm19410	G	A	8: 36,239,652 (GRCm39)	R116H	possibly damaging	Het
Gm9376	A	T	14: 118,504,502 (GRCm39)		probably benign	Het
Golim4	A	T	3: 75,813,775 (GRCm39)	F150I	probably damaging	Het
Gtpbp2	G	A	17: 46,478,757 (GRCm39)	V525M	probably damaging	Het
Hook1	A	G	4: 95,901,499 (GRCm39)	N486D	probably benign	Het
Hook1	A	G	4: 95,903,049 (GRCm39)	S513G	probably benign	Het
Hoxd9	A	T	2: 74,528,415 (GRCm39)	T6S	probably damaging	Het
Hsd3b2	A	T	3: 98,619,051 (GRCm39)	L298Q	possibly damaging	Het
Idh3b	A	C	2: 130,123,572 (GRCm39)	S172A	probably benign	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Ighv5-17	T	A	12: 113,822,858 (GRCm39)	T88S	possibly damaging	Het
Il16	T	A	7: 83,337,380 (GRCm39)	K112*	probably null	Het
Irag1	A	T	7: 110,545,161 (GRCm39)	I45N	possibly damaging	Het
Kalrn	T	A	16: 33,805,600 (GRCm39)	I2646F	probably benign	Het
Kcnt1	G	T	2: 25,767,959 (GRCm39)	G23C	probably damaging	Het
Kirrel2	T	A	7: 30,150,260 (GRCm39)	I523F	probably damaging	Het
Lrrc3b	A	T	14: 15,358,552 (GRCm38)	L18H	probably damaging	Het
Med13l	T	A	5: 118,862,214 (GRCm39)	S386T	probably benign	Het
Mettl6	C	T	14: 31,209,527 (GRCm39)		probably null	Het
Mocs2	C	T	13: 114,961,879 (GRCm39)	A120V	possibly damaging	Het
Mrpl39	T	C	16: 84,531,346 (GRCm39)	T74A	probably benign	Het
Myh2	T	C	11: 67,069,754 (GRCm39)	F367L	probably damaging	Het
N4bp1	G	A	8: 87,587,238 (GRCm39)	Q567*	probably null	Het
Naf1	A	G	8: 67,336,097 (GRCm39)	I341M	probably damaging	Het
Ncoa6	A	T	2: 155,250,063 (GRCm39)	N1080K	probably benign	Het
Nell1	C	A	7: 49,632,474 (GRCm39)	L36I	possibly damaging	Het
Nrxn2	A	G	19: 6,522,448 (GRCm39)	D446G	probably damaging	Het
Nrxn3	T	A	12: 89,499,737 (GRCm39)	C709*	probably null	Het
Or13p4	T	G	4: 118,547,416 (GRCm39)	T78P	probably damaging	Het
Or2ag17	A	G	7: 106,389,464 (GRCm39)	V248A	probably damaging	Het
Or2t26	C	G	11: 49,039,879 (GRCm39)	A265G	probably benign	Het
Or8g19	T	A	9: 39,055,766 (GRCm39)	Y123*	probably null	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Pbx3	A	G	2: 34,114,555 (GRCm39)		probably benign	Het
Pcnx1	T	C	12: 81,964,981 (GRCm39)	S383P	probably damaging	Het
Pde6h	T	G	6: 136,936,359 (GRCm39)	F34C	probably damaging	Het
Pnliprp1	A	G	19: 58,720,628 (GRCm39)		probably benign	Het
Pramel21	T	C	4: 143,343,795 (GRCm39)	L365P	probably damaging	Het
Prl8a9	C	T	13: 27,748,498 (GRCm39)		probably null	Het
Qdpr	T	C	5: 45,596,669 (GRCm39)	N165S	probably benign	Het
Rabl2	A	G	15: 89,468,148 (GRCm39)	F158L	probably damaging	Het
Rrp7a	G	T	15: 83,004,084 (GRCm39)	C117*	probably null	Het
Ryr2	T	C	13: 11,787,463 (GRCm39)	Y970C	probably damaging	Het
Sf3b3	T	C	8: 111,552,774 (GRCm39)	T503A	possibly damaging	Het
Sipa1	T	C	19: 5,704,198 (GRCm39)	E708G	probably damaging	Het
Skor2	T	A	18: 76,948,811 (GRCm39)	S844R	possibly damaging	Het
Slc6a7	C	T	18: 61,138,815 (GRCm39)	C231Y	probably damaging	Het
Smgc	A	T	15: 91,729,665 (GRCm39)	E206D	probably benign	Het
Tanc2	T	C	11: 105,758,290 (GRCm39)	S684P	possibly damaging	Het
Tep1	T	C	14: 51,082,967 (GRCm39)	T1014A	possibly damaging	Het
Tex19.1	A	G	11: 121,038,283 (GRCm39)	S214G	probably benign	Het
Trmt6	G	A	2: 132,650,774 (GRCm39)	S278L	probably benign	Het
Use1	T	C	8: 71,821,200 (GRCm39)	S156P	probably benign	Het
Znrf1	G	A	8: 112,335,954 (GRCm39)	V152M	probably damaging	Het

Other mutations in Or2n1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01677:Or2n1	APN	17	38,486,766 (GRCm39)	missense	probably damaging	1.00
IGL01749:Or2n1	APN	17	38,486,577 (GRCm39)	missense	probably benign	0.04
IGL01750:Or2n1	APN	17	38,486,577 (GRCm39)	missense	probably benign	0.04
IGL01751:Or2n1	APN	17	38,486,577 (GRCm39)	missense	probably benign	0.04
IGL01753:Or2n1	APN	17	38,486,577 (GRCm39)	missense	probably benign	0.04
IGL01757:Or2n1	APN	17	38,486,577 (GRCm39)	missense	probably benign	0.04
IGL01765:Or2n1	APN	17	38,486,577 (GRCm39)	missense	probably benign	0.04
IGL01766:Or2n1	APN	17	38,486,577 (GRCm39)	missense	probably benign	0.04
IGL01767:Or2n1	APN	17	38,486,577 (GRCm39)	missense	probably benign	0.04
IGL01822:Or2n1	APN	17	38,486,339 (GRCm39)	missense	probably damaging	1.00
IGL02256:Or2n1	APN	17	38,486,577 (GRCm39)	missense	probably benign	0.04
IGL02257:Or2n1	APN	17	38,486,577 (GRCm39)	missense	probably benign	0.04
IGL02258:Or2n1	APN	17	38,486,577 (GRCm39)	missense	probably benign	0.04
IGL02259:Or2n1	APN	17	38,486,577 (GRCm39)	missense	probably benign	0.04
IGL02275:Or2n1	APN	17	38,486,577 (GRCm39)	missense	probably benign	0.04
IGL02293:Or2n1	APN	17	38,486,577 (GRCm39)	missense	probably benign	0.04
IGL02295:Or2n1	APN	17	38,486,577 (GRCm39)	missense	probably benign	0.04
IGL02317:Or2n1	APN	17	38,486,577 (GRCm39)	missense	probably benign	0.04
IGL02318:Or2n1	APN	17	38,486,577 (GRCm39)	missense	probably benign	0.04
R0230:Or2n1	UTSW	17	38,486,841 (GRCm39)	missense	probably damaging	1.00
R0363:Or2n1	UTSW	17	38,486,338 (GRCm39)	missense	probably damaging	1.00
R1074:Or2n1	UTSW	17	38,486,331 (GRCm39)	missense	probably damaging	1.00
R1506:Or2n1	UTSW	17	38,486,091 (GRCm39)	missense	probably benign
R2300:Or2n1	UTSW	17	38,486,441 (GRCm39)	nonsense	probably null
R3743:Or2n1	UTSW	17	38,486,793 (GRCm39)	missense	probably damaging	1.00
R3975:Or2n1	UTSW	17	38,486,386 (GRCm39)	missense	probably benign	0.03
R4230:Or2n1	UTSW	17	38,486,772 (GRCm39)	missense	possibly damaging	0.67
R5158:Or2n1	UTSW	17	38,486,345 (GRCm39)	nonsense	probably null
R5439:Or2n1	UTSW	17	38,486,917 (GRCm39)	splice site	probably null
R6144:Or2n1	UTSW	17	38,486,116 (GRCm39)	missense	probably damaging	1.00
R6309:Or2n1	UTSW	17	38,486,410 (GRCm39)	missense	probably benign	0.00
R6675:Or2n1	UTSW	17	38,486,905 (GRCm39)	missense	probably benign
R6800:Or2n1	UTSW	17	38,486,013 (GRCm39)	missense	probably benign	0.01
R6873:Or2n1	UTSW	17	38,486,259 (GRCm39)	missense	probably benign
R7193:Or2n1	UTSW	17	38,485,987 (GRCm39)	missense	probably benign	0.44
R7534:Or2n1	UTSW	17	38,486,188 (GRCm39)	missense	probably benign	0.22
R7869:Or2n1	UTSW	17	38,486,830 (GRCm39)	missense	possibly damaging	0.94
R7912:Or2n1	UTSW	17	38,486,158 (GRCm39)	missense	probably damaging	0.99
R8048:Or2n1	UTSW	17	38,486,419 (GRCm39)	missense	probably benign	0.11
R8305:Or2n1	UTSW	17	38,486,464 (GRCm39)	missense	probably damaging	1.00
R9396:Or2n1	UTSW	17	38,486,421 (GRCm39)	missense	probably damaging	1.00
X0011:Or2n1	UTSW	17	38,486,742 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACTGGATCACTTGGTGTGTG -3'
(R):5'- CTTGAACAGGTTACCTAATGCCC -3'

Sequencing Primer
(F):5'- CACTTGGTGTGTGAGATTCCAATTC -3'
(R):5'- AACAGGTTACCTAATGCCCCCTTTAC -3'

Posted On

2022-06-15