Mutagenetix > Incidental Mutation

Incidental Mutation 'R5543:Or1n2'

436077

Institutional Source

Beutler Lab

Gene Symbol

Or1n2

Ensembl Gene

ENSMUSG00000055088

Gene Name

olfactory receptor family 1 subfamily N member 2

Synonyms

GA_x6K02T2NLDC-33601476-33602429, MOR127-4, Olfr354

MMRRC Submission

043101-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R5543 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36796960-36797913 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36797369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 137 (T137I)

Ref Sequence

ENSEMBL: ENSMUSP00000149298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068475] [ENSMUST00000217479]

AlphaFold

Q8VGJ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068475
AA Change: T137I

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000068986
Gene: ENSMUSG00000055088
AA Change: T137I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	310	2.1e-62	PFAM
Pfam:7tm_1	44	293	2.9e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121665

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217479
AA Change: T137I

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218102

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	C	A	7: 127,836,353 (GRCm39)	S80I	probably benign	Het
Aak1	T	C	6: 86,959,627 (GRCm39)		probably null	Het
Abcc6	A	G	7: 45,638,960 (GRCm39)		probably null	Het
Acvr1	A	G	2: 58,353,157 (GRCm39)	S268P	probably damaging	Het
Apod	T	C	16: 31,122,351 (GRCm39)		probably null	Het
Atp5po	T	C	16: 91,723,418 (GRCm39)	I58V	probably benign	Het
AU040320	C	T	4: 126,735,017 (GRCm39)	T777M	probably damaging	Het
Ccne2	A	T	4: 11,194,026 (GRCm39)	N89I	probably benign	Het
Cspg4b	C	A	13: 113,457,407 (GRCm39)	T1151K	probably damaging	Het
Dnah7a	A	G	1: 53,543,228 (GRCm39)	V2314A	probably damaging	Het
Dop1b	T	C	16: 93,595,808 (GRCm39)	S1881P	probably damaging	Het
E4f1	A	G	17: 24,666,336 (GRCm39)	V24A	possibly damaging	Het
Esrrg	A	T	1: 187,882,451 (GRCm39)	D236V	probably damaging	Het
Fam240b	T	A	13: 64,633,736 (GRCm39)	I27F	possibly damaging	Het
Fat1	T	A	8: 45,476,516 (GRCm39)	I1854N	probably damaging	Het
Fchsd2	T	C	7: 100,920,906 (GRCm39)	Y480H	probably damaging	Het
Fras1	A	G	5: 96,676,394 (GRCm39)	N47S	probably benign	Het
Gabrr3	T	C	16: 59,253,870 (GRCm39)	S196P	probably damaging	Het
Gbp8	T	A	5: 105,165,696 (GRCm39)	D319V	possibly damaging	Het
Hrh3	G	T	2: 179,745,763 (GRCm39)	A61E	probably damaging	Het
Idua	T	C	5: 108,818,095 (GRCm39)	I89T	probably benign	Het
Ifitm3	T	A	7: 140,589,730 (GRCm39)	I108F	unknown	Het
Izumo4	T	C	10: 80,538,668 (GRCm39)	F40S	probably damaging	Het
Kifc2	A	G	15: 76,551,242 (GRCm39)	R679G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Ldha	A	T	7: 46,500,314 (GRCm39)	I171F	possibly damaging	Het
Lrfn4	T	C	19: 4,662,191 (GRCm39)	S609G	probably benign	Het
Mmp15	T	C	8: 96,094,729 (GRCm39)	F201S	possibly damaging	Het
Myof	C	T	19: 37,969,778 (GRCm39)	V295I	probably benign	Het
Or2z2	T	A	11: 58,345,993 (GRCm39)	M261L	probably damaging	Het
Or5m12	G	T	2: 85,734,672 (GRCm39)	A242D	probably damaging	Het
Parp14	T	C	16: 35,655,137 (GRCm39)	D1778G	probably benign	Het
Pcnt	A	T	10: 76,247,886 (GRCm39)	D969E	probably benign	Het
Pibf1	A	T	14: 99,350,428 (GRCm39)	N192I	probably benign	Het
Pitpnm3	A	G	11: 71,947,023 (GRCm39)	F792S	probably damaging	Het
Pkd2	T	A	5: 104,637,199 (GRCm39)	I604N	probably damaging	Het
Pla2g15	T	C	8: 106,887,775 (GRCm39)	Y188H	probably damaging	Het
Plxnc1	G	T	10: 94,700,636 (GRCm39)	D643E	probably benign	Het
Prrc2c	G	A	1: 162,501,080 (GRCm39)	P1241L	probably damaging	Het
Ptprd	T	C	4: 75,977,990 (GRCm39)	E173G	probably damaging	Het
Shank3	T	C	15: 89,416,557 (GRCm39)	V232A	probably damaging	Het
Shbg	A	G	11: 69,507,564 (GRCm39)	I171T	probably damaging	Het
Slc22a14	A	T	9: 119,002,674 (GRCm39)	F404L	probably benign	Het
Slc37a3	C	A	6: 39,331,960 (GRCm39)	G158C	probably damaging	Het
Slfn9	C	A	11: 82,873,207 (GRCm39)	L565F	probably damaging	Het
Spmip10	G	A	18: 56,727,760 (GRCm39)		probably benign	Het
Trank1	T	A	9: 111,195,180 (GRCm39)	M1068K	probably damaging	Het
Trbv15	A	T	6: 41,118,187 (GRCm39)	I15L	probably benign	Het
Ttn	C	T	2: 76,569,918 (GRCm39)	V26992M	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ugt2b34	T	A	5: 87,054,560 (GRCm39)	I74F	probably damaging	Het
Vamp3	A	G	4: 151,135,477 (GRCm39)	L47P	probably damaging	Het
Zfp143	T	A	7: 109,682,522 (GRCm39)	C363*	probably null	Het
Zfp438	T	C	18: 5,213,761 (GRCm39)	E399G	probably damaging	Het

Other mutations in Or1n2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01942:Or1n2	APN	2	36,797,869 (GRCm39)	missense	probably benign
IGL02573:Or1n2	APN	2	36,797,566 (GRCm39)	missense	probably damaging	1.00
P0027:Or1n2	UTSW	2	36,797,582 (GRCm39)	missense	probably benign	0.00
R0040:Or1n2	UTSW	2	36,797,470 (GRCm39)	missense	probably damaging	1.00
R0610:Or1n2	UTSW	2	36,797,671 (GRCm39)	missense	probably damaging	1.00
R0760:Or1n2	UTSW	2	36,797,233 (GRCm39)	missense	probably benign	0.25
R1727:Or1n2	UTSW	2	36,797,405 (GRCm39)	missense	probably benign	0.00
R2972:Or1n2	UTSW	2	36,797,416 (GRCm39)	missense	probably benign	0.03
R4671:Or1n2	UTSW	2	36,797,405 (GRCm39)	missense	probably benign	0.00
R4750:Or1n2	UTSW	2	36,797,728 (GRCm39)	missense	probably benign	0.13
R5043:Or1n2	UTSW	2	36,796,977 (GRCm39)	missense	probably benign	0.01
R5400:Or1n2	UTSW	2	36,797,833 (GRCm39)	missense	probably damaging	1.00
R5792:Or1n2	UTSW	2	36,797,113 (GRCm39)	missense	probably benign	0.00
R6639:Or1n2	UTSW	2	36,797,690 (GRCm39)	missense	probably damaging	1.00
R6876:Or1n2	UTSW	2	36,797,834 (GRCm39)	missense	probably damaging	1.00
R7965:Or1n2	UTSW	2	36,796,953 (GRCm39)	start gained	probably benign
R8351:Or1n2	UTSW	2	36,797,149 (GRCm39)	missense	probably benign	0.00
R8859:Or1n2	UTSW	2	36,797,516 (GRCm39)	missense	possibly damaging	0.63
T0722:Or1n2	UTSW	2	36,797,582 (GRCm39)	missense	probably benign	0.00
Z1176:Or1n2	UTSW	2	36,797,713 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCATCAGTTCTGATGCACACC -3'
(R):5'- TCAGAACAGGCAAGTTTCAGC -3'

Sequencing Primer
(F):5'- AGCAAATCTCTCCTTAACTGATGC -3'
(R):5'- TTTCAGCAGAGCACTGGGATCAC -3'

Posted On

2016-10-24