Mutagenetix > Incidental Mutation

Incidental Mutation 'R0359:Or52n2'

29995

Institutional Source

Beutler Lab

Gene Symbol

Or52n2

Ensembl Gene

ENSMUSG00000063582

Gene Name

olfactory receptor family 52 subfamily N member 2

Synonyms

Olfr666, MOR34-1, GA_x6K02T2PBJ9-7522449-7521493

MMRRC Submission

038565-MU

Accession Numbers

Essential gene?

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

Stock #

R0359 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104541877-104542833 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104542521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 105 (F105I)

Ref Sequence

ENSEMBL: ENSMUSP00000148919 (fasta)

Gene Model

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

AlphaFold

Q8VH00

Predicted Effect

probably damaging
Transcript: ENSMUST00000081116
AA Change: F105I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079893
Gene: ENSMUSG00000063582
AA Change: F105I

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 damaging
Transcript: ENSMUST00000214757
AA Change: F105I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.3576

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.3%

Validation Efficiency

100% (65/65)

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
1700018F24Rik	T	A	5: 144,982,181 (GRCm39)	Y255*	probably null	Het
2310003L06Rik	A	T	5: 88,112,455 (GRCm39)		probably benign	Het
Abcb5	A	G	12: 118,904,067 (GRCm39)	S213P	probably damaging	Het
Agpat1	A	G	17: 34,829,551 (GRCm39)	I42V	probably benign	Het
Apoh	A	T	11: 108,288,199 (GRCm39)	I106F	probably damaging	Het
BB014433	G	T	8: 15,092,540 (GRCm39)	C104*	probably null	Het
Bsn	C	T	9: 107,989,045 (GRCm39)	G2236S	possibly damaging	Het
Casp9	A	G	4: 141,521,221 (GRCm39)	E19G	probably damaging	Het
Ces1g	T	C	8: 94,055,163 (GRCm39)		probably benign	Het
Cfap65	T	A	1: 74,959,760 (GRCm39)	M797L	probably benign	Het
Col14a1	A	G	15: 55,271,264 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col27a1	G	T	4: 63,232,964 (GRCm39)		probably null	Het
Col6a4	T	A	9: 105,874,345 (GRCm39)	H2214L	probably benign	Het
Ctu2	T	G	8: 123,204,932 (GRCm39)	S72R	probably damaging	Het
Cyp24a1	T	A	2: 170,333,619 (GRCm39)	M245L	possibly damaging	Het
Dgkb	T	A	12: 38,266,030 (GRCm39)	V503E	probably benign	Het
Diaph3	T	C	14: 87,206,938 (GRCm39)	R501G	probably benign	Het
Dip2b	A	G	15: 100,109,874 (GRCm39)	D1453G	probably damaging	Het
Dnah2	G	A	11: 69,420,357 (GRCm39)	T119M	probably benign	Het
F5	T	G	1: 164,007,018 (GRCm39)	V274G	probably damaging	Het
Farp1	A	T	14: 121,492,808 (GRCm39)		probably benign	Het
Fcsk	T	C	8: 111,619,891 (GRCm39)		probably null	Het
Foxf1	T	C	8: 121,811,742 (GRCm39)	V202A	possibly damaging	Het
Fras1	G	A	5: 96,910,449 (GRCm39)	V3293I	probably damaging	Het
Furin	C	T	7: 80,041,032 (GRCm39)	G602D	probably damaging	Het
Gclm	T	C	3: 122,049,269 (GRCm39)		probably benign	Het
Gemin4	G	A	11: 76,102,988 (GRCm39)	T591M	probably benign	Het
Glrx3	T	C	7: 137,055,214 (GRCm39)	S119P	possibly damaging	Het
Gm16485	G	T	9: 8,972,437 (GRCm39)		probably benign	Het
Helq	T	C	5: 100,938,066 (GRCm39)	N460S	probably benign	Het
Hs6st1	G	A	1: 36,108,266 (GRCm39)		probably null	Het
Kpna2	A	G	11: 106,882,148 (GRCm39)	L226S	probably damaging	Het
Myom3	G	A	4: 135,505,454 (GRCm39)	V448M	probably damaging	Het
Nalcn	A	G	14: 123,536,580 (GRCm39)	S1224P	probably damaging	Het
Or56b1b	C	T	7: 108,164,721 (GRCm39)	D94N	probably benign	Het
Or7a38	A	G	10: 78,753,177 (GRCm39)	T168A	probably benign	Het
Plag1	C	T	4: 3,904,546 (GRCm39)	C215Y	probably damaging	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pot1a	G	A	6: 25,771,679 (GRCm39)		probably benign	Het
Ppfia1	T	C	7: 144,038,929 (GRCm39)	D494G	probably damaging	Het
Ppp1r1a	T	A	15: 103,441,915 (GRCm39)	D51V	probably damaging	Het
Ptprz1	T	A	6: 22,973,175 (GRCm39)		probably benign	Het
Rad51ap1	A	T	6: 126,911,704 (GRCm39)	V61D	probably damaging	Het
Reln	G	A	5: 22,253,798 (GRCm39)	L605F	probably damaging	Het
Riok3	T	C	18: 12,282,006 (GRCm39)	I325T	probably damaging	Het
Sclt1	A	T	3: 41,616,005 (GRCm39)		probably null	Het
Slc25a39	A	G	11: 102,297,395 (GRCm39)	V24A	possibly damaging	Het
Slc9a3	T	G	13: 74,305,726 (GRCm39)	S248A	probably damaging	Het
Slco6d1	T	A	1: 98,394,422 (GRCm39)	C369S	probably benign	Het
Spen	T	C	4: 141,244,181 (GRCm39)	S285G	unknown	Het
Stxbp5l	A	G	16: 37,036,440 (GRCm39)		probably benign	Het
Thsd7a	G	A	6: 12,352,030 (GRCm39)	P1055L	probably damaging	Het
Tmed3	C	T	9: 89,581,842 (GRCm39)	S207N	possibly damaging	Het
Trerf1	G	T	17: 47,652,062 (GRCm39)		noncoding transcript	Het
Triml1	A	T	8: 43,583,542 (GRCm39)	V353E	probably damaging	Het
Ttn	G	A	2: 76,549,401 (GRCm39)	R31759C	probably damaging	Het
Ugt2b37	T	C	5: 87,398,443 (GRCm39)	Q331R	probably benign	Het
Urb1	A	G	16: 90,588,048 (GRCm39)	I420T	probably damaging	Het
Vmn1r68	A	T	7: 10,261,201 (GRCm39)	L299Q	probably damaging	Het
Vmn1r81	T	A	7: 11,993,877 (GRCm39)	T244S	probably damaging	Het
Vps13a	A	G	19: 16,618,941 (GRCm39)	F2875S	probably damaging	Het
Wscd1	A	G	11: 71,657,692 (GRCm39)	M166V	probably damaging	Het
Zfp296	T	C	7: 19,313,864 (GRCm39)	Y240H	possibly damaging	Het
Zfp462	A	G	4: 55,013,689 (GRCm39)	H737R	probably 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
IGL02559:Or52n2	APN	7	104,542,161 (GRCm39)	missense	probably benign	0.01
IGL03193:Or52n2	APN	7	104,542,263 (GRCm39)	missense	probably benign	0.31
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

Predicted Primers

PCR Primer
(F):5'- AGACTGCCTCTGCAATAGGGCAAG -3'
(R):5'- GCCAGTCATTATGTCTGGAGCCAAC -3'

Sequencing Primer
(F):5'- GCGCTTGGTGAGGAGAG -3'
(R):5'- GAAGATGCACATGTCTGGATCTC -3'

Posted On

2013-04-24