Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02559:Or52n2'

298597

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or52n2

Ensembl Gene

ENSMUSG00000063582

Gene Name

olfactory receptor family 52 subfamily N member 2

Synonyms

Olfr666, MOR34-1, GA_x6K02T2PBJ9-7522449-7521493

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

IGL02559

Quality Score

Status

Chromosome

Chromosomal Location

104541877-104542833 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104542161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 225 (R225W)

Ref Sequence

ENSEMBL: ENSMUSP00000148919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081116] [ENSMUST00000214757]

AlphaFold

Q8VH00

Predicted Effect

probably benign
Transcript: ENSMUST00000081116
AA Change: R225W

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000079893
Gene: ENSMUSG00000063582
AA Change: R225W

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	313	2.7e-104	PFAM
Pfam:7TM_GPCR_Srsx	37	209	4.1e-11	PFAM
Pfam:7tm_1	43	295	1.4e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214757
AA Change: R225W

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,507,433 (GRCm39)	Q1004*	probably null	Het
Bahcc1	A	G	11: 120,175,998 (GRCm39)	D1914G	probably damaging	Het
Bcl11b	A	T	12: 107,881,653 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Col24a1	A	T	3: 145,019,934 (GRCm39)	I102F	probably benign	Het
Col7a1	C	T	9: 108,802,284 (GRCm39)	R2063C	unknown	Het
Ddo	T	A	10: 40,523,517 (GRCm39)	L169Q	probably damaging	Het
Defb4	G	T	8: 19,251,313 (GRCm39)	C60F	probably damaging	Het
Dock9	A	T	14: 121,862,559 (GRCm39)		probably benign	Het
Dysf	A	T	6: 84,044,428 (GRCm39)		probably benign	Het
Fasn	G	A	11: 120,699,892 (GRCm39)	A2253V	possibly damaging	Het
Fbxw26	T	C	9: 109,551,232 (GRCm39)	D355G	probably benign	Het
Gak	C	T	5: 108,732,098 (GRCm39)	E797K	probably null	Het
Gm10654	T	C	8: 71,384,774 (GRCm39)		noncoding transcript	Het
Gnas	T	C	2: 174,183,729 (GRCm39)		probably benign	Het
H2bc11	T	A	13: 22,227,533 (GRCm39)	V45E	possibly damaging	Het
Hdac3	A	G	18: 38,087,944 (GRCm39)	F8S	probably damaging	Het
Hrh4	T	C	18: 13,140,301 (GRCm39)		probably null	Het
Klhl1	A	G	14: 96,389,396 (GRCm39)	V586A	possibly damaging	Het
Lct	T	C	1: 128,222,003 (GRCm39)	N1512S	probably damaging	Het
Mmp28	G	T	11: 83,338,566 (GRCm39)	N128K	probably benign	Het
Mndal	T	C	1: 173,700,486 (GRCm39)	T162A	probably benign	Het
Myh3	A	G	11: 66,991,921 (GRCm39)	E1822G	possibly damaging	Het
Mylpf	A	G	7: 126,813,315 (GRCm39)	Y133C	probably damaging	Het
Nup210l	G	A	3: 90,067,260 (GRCm39)	A767T	probably benign	Het
Or10j3b	T	C	1: 173,044,088 (GRCm39)	V290A	probably damaging	Het
Or5au1	A	G	14: 52,273,464 (GRCm39)	Y35H	probably damaging	Het
Paics	A	G	5: 77,112,451 (GRCm39)	I312V	possibly damaging	Het
Pkdrej	G	T	15: 85,702,049 (GRCm39)	Q1296K	probably benign	Het
Rufy1	A	G	11: 50,311,310 (GRCm39)	F170L	probably damaging	Het
Shcbp1	T	A	8: 4,799,305 (GRCm39)	E93V	probably damaging	Het
Slamf1	T	A	1: 171,594,826 (GRCm39)	I11K	possibly damaging	Het
Slc5a5	C	T	8: 71,342,915 (GRCm39)	G215D	probably damaging	Het
Slco1a1	A	T	6: 141,867,514 (GRCm39)	V473D	probably benign	Het
Slit1	A	G	19: 41,709,524 (GRCm39)	V123A	probably benign	Het
Srgap2	A	C	1: 131,452,674 (GRCm39)		probably null	Het
Stk32c	T	C	7: 138,700,606 (GRCm39)	M208V	probably benign	Het
Syt15	T	C	14: 33,943,760 (GRCm39)	V103A	probably benign	Het
Tacc2	T	A	7: 130,360,997 (GRCm39)	L456Q	probably damaging	Het
Tanc1	A	G	2: 59,554,998 (GRCm39)		probably benign	Het
Tepsin	G	T	11: 119,987,731 (GRCm39)	D62E	probably benign	Het
Thap3	T	C	4: 152,068,144 (GRCm39)	D106G	probably benign	Het
Ttn	T	C	2: 76,616,561 (GRCm39)	D14818G	probably damaging	Het
Txndc2	T	C	17: 65,946,585 (GRCm39)	N39S	possibly damaging	Het
Ubxn11	A	G	4: 133,852,254 (GRCm39)	E200G	probably damaging	Het
Vmn2r11	T	G	5: 109,200,046 (GRCm39)	Q469P	probably damaging	Het
Yipf2	T	C	9: 21,503,482 (GRCm39)	T22A	probably damaging	Het
Ypel1	T	C	16: 16,927,515 (GRCm39)	K26E	possibly damaging	Het

Other mutations in Or52n2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Or52n2	APN	7	104,542,179 (GRCm39)	missense	probably damaging	1.00
IGL01016:Or52n2	APN	7	104,542,243 (GRCm39)	missense	probably damaging	1.00
IGL01577:Or52n2	APN	7	104,542,730 (GRCm39)	missense	probably benign
IGL01775:Or52n2	APN	7	104,542,499 (GRCm39)	missense	possibly damaging	0.95
IGL01932:Or52n2	APN	7	104,542,425 (GRCm39)	missense	probably damaging	0.99
IGL03193:Or52n2	APN	7	104,542,263 (GRCm39)	missense	probably benign	0.31
R0359:Or52n2	UTSW	7	104,542,521 (GRCm39)	missense	probably damaging	0.99
R0494:Or52n2	UTSW	7	104,542,478 (GRCm39)	missense	probably damaging	1.00
R0680:Or52n2	UTSW	7	104,542,211 (GRCm39)	missense	probably benign	0.23
R1476:Or52n2	UTSW	7	104,542,444 (GRCm39)	nonsense	probably null
R1988:Or52n2	UTSW	7	104,542,110 (GRCm39)	missense	probably damaging	1.00
R2520:Or52n2	UTSW	7	104,542,080 (GRCm39)	missense	probably benign	0.01
R3690:Or52n2	UTSW	7	104,542,724 (GRCm39)	missense	possibly damaging	0.66
R5220:Or52n2	UTSW	7	104,542,104 (GRCm39)	missense	possibly damaging	0.94
R5322:Or52n2	UTSW	7	104,542,371 (GRCm39)	missense	probably benign	0.14
R5728:Or52n2	UTSW	7	104,542,436 (GRCm39)	missense	possibly damaging	0.88
R6865:Or52n2	UTSW	7	104,542,719 (GRCm39)	missense	probably benign	0.00
R7235:Or52n2	UTSW	7	104,541,926 (GRCm39)	missense	probably benign	0.01
R7404:Or52n2	UTSW	7	104,542,181 (GRCm39)	missense	possibly damaging	0.61
R9146:Or52n2	UTSW	7	104,542,452 (GRCm39)	missense	probably damaging	1.00
R9569:Or52n2	UTSW	7	104,542,525 (GRCm39)	missense	possibly damaging	0.59

Posted On

2015-04-16