Mutagenetix > Incidental Mutation

Incidental Mutation 'R6312:Or52n20'

509818

Institutional Source

Beutler Lab

Gene Symbol

Or52n20

Ensembl Gene

ENSMUSG00000073922

Gene Name

olfactory receptor family 52 subfamily N member 20

Synonyms

Olfr659, MOR34-4, GA_x6K02T2PBJ9-7298889-7299857

MMRRC Submission

044415-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R6312 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104319911-104320879 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104320796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 296 (Y296N)

Ref Sequence

ENSEMBL: ENSMUSP00000149939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098170] [ENSMUST00000214986]

AlphaFold

Q8VGV6

Predicted Effect

probably damaging
Transcript: ENSMUST00000098170
AA Change: Y296N

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

SMART Domains

Protein: ENSMUSP00000095772
Gene: ENSMUSG00000073922
AA Change: Y296N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	314	5.2e-99	PFAM
Pfam:7TM_GPCR_Srsx	37	256	7.2e-9	PFAM
Pfam:7tm_1	43	296	4.7e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214986
AA Change: Y296N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	G	12: 72,936,541 (GRCm39)	S472P	possibly damaging	Het
Aadacl4fm1	A	T	4: 144,255,072 (GRCm39)	H164L	probably benign	Het
Abraxas2	G	A	7: 132,476,694 (GRCm39)	A145T	probably damaging	Het
AC153874.1	T	A	10: 77,682,961 (GRCm39)		probably benign	Het
Acadvl	T	A	11: 69,902,593 (GRCm39)	M375L	probably damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arl4d	T	C	11: 101,558,079 (GRCm39)	*202R	probably null	Het
B3gat2	G	T	1: 23,854,548 (GRCm39)	E83*	probably null	Het
Bmper	C	A	9: 23,318,087 (GRCm39)	Q569K	possibly damaging	Het
C2cd4d	C	A	3: 94,271,742 (GRCm39)	P336H	probably damaging	Het
Cct2	A	T	10: 116,891,960 (GRCm39)	S363T	probably benign	Het
Cers5	A	G	15: 99,644,996 (GRCm39)	V119A	probably benign	Het
Cfhr2	C	T	1: 139,758,817 (GRCm39)	V78I	possibly damaging	Het
Crocc2	A	T	1: 93,143,432 (GRCm39)	K1345*	probably null	Het
Cyp4f39	T	C	17: 32,702,268 (GRCm39)	M255T	probably benign	Het
Dpp6	A	T	5: 27,930,669 (GRCm39)	I834F	possibly damaging	Het
Dpy19l4	T	A	4: 11,289,671 (GRCm39)	K205*	probably null	Het
Epg5	T	A	18: 78,022,426 (GRCm39)	D1056E	possibly damaging	Het
Fam20a	A	C	11: 109,565,456 (GRCm39)	C452G	probably damaging	Het
Gnai2	A	T	9: 107,512,316 (GRCm39)	V34E	probably damaging	Het
Gng3	A	G	19: 8,815,997 (GRCm39)	V7A	probably benign	Het
Hdc	A	G	2: 126,449,326 (GRCm39)	V77A	possibly damaging	Het
Hint1	G	A	11: 54,760,816 (GRCm39)	C85Y	probably benign	Het
Kif17	C	T	4: 138,015,504 (GRCm39)	S551L	probably benign	Het
Lgr5	A	G	10: 115,288,829 (GRCm39)	L581P	probably damaging	Het
Lig4	G	T	8: 10,021,739 (GRCm39)	N680K	probably benign	Het
Lipi	T	A	16: 75,370,803 (GRCm39)	Y138F	probably damaging	Het
Lrp2	C	T	2: 69,267,025 (GRCm39)	G4294E	probably damaging	Het
Lrrc7	A	G	3: 157,866,246 (GRCm39)	M1165T	probably benign	Het
Mtpap	T	C	18: 4,396,175 (GRCm39)	I489T	possibly damaging	Het
Nlrp1b	T	A	11: 71,119,223 (GRCm39)	N24I	probably benign	Het
Nlrp4a	A	G	7: 26,148,821 (GRCm39)	T143A	probably benign	Het
Nudt2	A	G	4: 41,480,386 (GRCm39)	T90A	probably benign	Het
Or1j20	A	T	2: 36,760,477 (GRCm39)	I300L	probably benign	Het
Or8b36	GTTT	GTTTGCTGTTTT	9: 37,937,842 (GRCm39)		probably null	Het
Or8b36	TTT	TTTGCTGATT	9: 37,937,843 (GRCm39)		probably null	Het
Or8b36	T	TGCTGTTC	9: 37,937,845 (GRCm39)		probably null	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8b36	TTGCTGT	TTGCTGTCTGCTGT	9: 37,937,837 (GRCm39)		probably null	Het
Or8k53	A	T	2: 86,177,925 (GRCm39)	F62I	probably damaging	Het
Osmr	A	G	15: 6,853,119 (GRCm39)	V592A	probably damaging	Het
Rbp2	G	T	9: 98,372,700 (GRCm39)	S13I	probably benign	Het
Rsf1	A	AGGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Rusf1	T	C	7: 127,872,715 (GRCm39)	K411R	probably benign	Het
Slc6a7	A	G	18: 61,135,457 (GRCm39)	S381P	probably benign	Het
Slitrk6	A	G	14: 110,987,679 (GRCm39)	L676P	probably benign	Het
Sspo	T	C	6: 48,434,300 (GRCm39)		probably null	Het
Tectb	CT	C	19: 55,181,094 (GRCm39)		probably null	Homo
Tma16	T	C	8: 66,934,118 (GRCm39)	E79G	probably damaging	Het
Trim14	G	T	4: 46,507,257 (GRCm39)	H320N	probably damaging	Het
Trim63	A	G	4: 134,053,008 (GRCm39)	D323G	probably damaging	Het
Vash2	C	A	1: 190,690,880 (GRCm39)	R309L	probably benign	Het
Vmn1r62	G	A	7: 5,679,083 (GRCm39)	V255M	possibly damaging	Het
Vmn2r53	T	A	7: 12,332,566 (GRCm39)		probably null	Het
Zfp382	G	A	7: 29,833,963 (GRCm39)	R538H	probably damaging	Het
Zfp592	T	A	7: 80,673,184 (GRCm39)	D49E	probably benign	Het
Zfp60	T	C	7: 27,448,201 (GRCm39)	C290R	probably damaging	Het
Zfp69	G	A	4: 120,806,714 (GRCm39)		probably benign	Het
Zfp790	G	T	7: 29,527,647 (GRCm39)	G111W	probably damaging	Het
Zfp948	T	C	17: 21,807,429 (GRCm39)	I207T	possibly damaging	Het

Other mutations in Or52n20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01443:Or52n20	APN	7	104,320,278 (GRCm39)	missense	probably damaging	1.00
IGL01640:Or52n20	APN	7	104,320,871 (GRCm39)	missense	probably damaging	0.96
IGL01774:Or52n20	APN	7	104,320,149 (GRCm39)	missense	probably benign	0.01
IGL01912:Or52n20	APN	7	104,320,440 (GRCm39)	missense	possibly damaging	0.91
IGL02338:Or52n20	APN	7	104,320,888 (GRCm39)	utr 3 prime	probably benign
IGL02611:Or52n20	APN	7	104,320,614 (GRCm39)	missense	possibly damaging	0.91
IGL02707:Or52n20	APN	7	104,320,136 (GRCm39)	missense	probably damaging	0.97
R1139:Or52n20	UTSW	7	104,320,098 (GRCm39)	missense	probably damaging	1.00
R1283:Or52n20	UTSW	7	104,320,150 (GRCm39)	missense	possibly damaging	0.94
R1867:Or52n20	UTSW	7	104,320,524 (GRCm39)	missense	possibly damaging	0.89
R2004:Or52n20	UTSW	7	104,320,808 (GRCm39)	missense	possibly damaging	0.88
R2265:Or52n20	UTSW	7	104,320,067 (GRCm39)	missense	probably benign	0.00
R4057:Or52n20	UTSW	7	104,320,476 (GRCm39)	missense	probably damaging	1.00
R4519:Or52n20	UTSW	7	104,320,046 (GRCm39)	missense	probably damaging	1.00
R4735:Or52n20	UTSW	7	104,320,200 (GRCm39)	missense	probably benign
R4745:Or52n20	UTSW	7	104,320,711 (GRCm39)	missense	probably damaging	1.00
R4816:Or52n20	UTSW	7	104,319,942 (GRCm39)	missense	probably benign	0.04
R5274:Or52n20	UTSW	7	104,320,733 (GRCm39)	missense	probably damaging	0.99
R6299:Or52n20	UTSW	7	104,320,075 (GRCm39)	missense	probably benign	0.08
R6770:Or52n20	UTSW	7	104,320,725 (GRCm39)	missense	probably damaging	1.00
R7293:Or52n20	UTSW	7	104,319,925 (GRCm39)	missense	probably damaging	1.00
R8119:Or52n20	UTSW	7	104,320,061 (GRCm39)	missense	probably damaging	1.00
R8425:Or52n20	UTSW	7	104,320,502 (GRCm39)	missense	probably damaging	1.00
R8493:Or52n20	UTSW	7	104,320,022 (GRCm39)	missense	probably benign	0.13
R8694:Or52n20	UTSW	7	104,320,296 (GRCm39)	missense	probably damaging	1.00
R9323:Or52n20	UTSW	7	104,320,220 (GRCm39)	missense	possibly damaging	0.78
R9327:Or52n20	UTSW	7	104,320,742 (GRCm39)	missense	probably damaging	1.00
RF004:Or52n20	UTSW	7	104,320,248 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCAGAAAGCTTTCAGCACC -3'
(R):5'- CATAGAGAGTTGAACGCAGTATGAC -3'

Sequencing Primer
(F):5'- GCTTTCAGCACCTGCACTG -3'
(R):5'- CAAAGTGTATGACCATTTGCGGACC -3'

Posted On

2018-04-02