Mutagenetix > Incidental Mutation

Incidental Mutation 'R4519:Or52n20'

334117

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

041590-MU

Accession Numbers

Essential gene?

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

Stock #

R4519 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104319911-104320879 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104320046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 46 (G46R)

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: G46R

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

SMART Domains

Protein: ENSMUSP00000095772
Gene: ENSMUSG00000073922
AA Change: G46R

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: G46R

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	A	G	9: 114,129,092 (GRCm39)		noncoding transcript	Het
Acadsb	A	T	7: 131,031,733 (GRCm39)	T190S	probably damaging	Het
Adamts17	G	T	7: 66,490,314 (GRCm39)	G132V	probably damaging	Het
Atosa	A	G	9: 74,930,929 (GRCm39)	I957M	probably damaging	Het
Atp8b3	C	T	10: 80,359,681 (GRCm39)	M984I	probably benign	Het
Atp8b4	A	T	2: 126,256,379 (GRCm39)		probably null	Het
Btbd18	T	C	2: 84,497,924 (GRCm39)	Y521H	probably damaging	Het
Casd1	A	G	6: 4,621,102 (GRCm39)	N220S	probably benign	Het
Ccdc112	T	G	18: 46,420,613 (GRCm39)	E379A	possibly damaging	Het
Ccdc88a	T	C	11: 29,432,651 (GRCm39)	I1219T	probably benign	Het
Cntrl	A	T	2: 35,063,123 (GRCm39)	K1573M	probably damaging	Het
Col14a1	A	T	15: 55,251,975 (GRCm39)	I544F	unknown	Het
Cyp20a1	A	T	1: 60,426,306 (GRCm39)	Y416F	probably damaging	Het
Dagla	T	C	19: 10,247,096 (GRCm39)	K132E	probably damaging	Het
Dbn1	A	T	13: 55,624,042 (GRCm39)	I350N	possibly damaging	Het
Ddx41	A	T	13: 55,680,957 (GRCm39)	V329E	probably damaging	Het
Dhx32	A	T	7: 133,335,838 (GRCm39)	Y272N	probably damaging	Het
Fam114a1	C	A	5: 65,163,225 (GRCm39)	P174Q	probably benign	Het
Galnt3	C	A	2: 65,923,954 (GRCm39)	R438L	probably damaging	Het
Ghr	T	A	15: 3,362,970 (GRCm39)	L167F	probably damaging	Het
Glod4	T	A	11: 76,134,397 (GRCm39)	D25V	probably damaging	Het
Gm9767	T	C	10: 25,954,756 (GRCm39)		probably benign	Het
Golga4	T	A	9: 118,388,076 (GRCm39)	S1733T	probably benign	Het
Gsdme	A	T	6: 50,206,333 (GRCm39)	I170N	probably damaging	Het
H2-M10.3	C	T	17: 36,678,722 (GRCm39)		probably null	Het
Kmt2c	T	A	5: 25,568,475 (GRCm39)	K867M	probably damaging	Het
Krt35	A	G	11: 99,985,453 (GRCm39)	V196A	possibly damaging	Het
Ltbp1	A	T	17: 75,671,492 (GRCm39)	M1558L	probably benign	Het
Mcam	T	G	9: 44,052,640 (GRCm39)	M623R	possibly damaging	Het
Mrps26	A	T	2: 130,406,269 (GRCm39)	Q134L	probably benign	Het
Mxra8	T	C	4: 155,927,440 (GRCm39)		probably null	Het
Or13a21	A	G	7: 139,999,123 (GRCm39)	S188P	probably damaging	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Parg	C	A	14: 31,931,592 (GRCm39)	T404K	probably damaging	Het
Parp8	C	A	13: 117,032,209 (GRCm39)	L321F	possibly damaging	Het
Piezo2	T	C	18: 63,205,951 (GRCm39)	E1486G	probably damaging	Het
Pign	A	T	1: 105,525,391 (GRCm39)		probably null	Het
Pik3r4	A	G	9: 105,549,924 (GRCm39)	H1005R	probably damaging	Het
Ppp6r1	A	C	7: 4,644,045 (GRCm39)		probably null	Het
Ptdss2	A	G	7: 140,734,491 (GRCm39)	T309A	probably benign	Het
Ptprt	T	C	2: 161,406,609 (GRCm39)	M987V	probably damaging	Het
Rgs17	C	A	10: 5,868,192 (GRCm39)	L9F	probably benign	Het
Rock2	A	G	12: 17,027,738 (GRCm39)	R168G	probably damaging	Het
Rsph4a	T	A	10: 33,787,623 (GRCm39)	L593*	probably null	Het
Scaf11	C	A	15: 96,322,719 (GRCm39)	K108N	probably damaging	Het
Sec23b	T	A	2: 144,423,935 (GRCm39)	M528K	possibly damaging	Het
Shank2	G	A	7: 143,963,942 (GRCm39)	D727N	probably damaging	Het
Sipa1l2	T	C	8: 126,218,965 (GRCm39)	D124G	probably benign	Het
Spatc1	A	T	15: 76,176,685 (GRCm39)	I479F	probably damaging	Het
Tmem126b	A	G	7: 90,118,316 (GRCm39)	L188P	probably damaging	Het
Tnrc6b	T	G	15: 80,764,448 (GRCm39)	L650W	probably damaging	Het
Vmn2r62	A	G	7: 42,413,957 (GRCm39)	F829L	probably 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
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
R6312:Or52n20	UTSW	7	104,320,796 (GRCm39)	missense	probably damaging	1.00
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'- GGACAGTCATGCAAATATAAGCCC -3'
(R):5'- CTCCATCGCTGTGAAAGTATGG -3'

Sequencing Primer
(F):5'- GCCCAAACTTCATTAGCCACTTTAG -3'
(R):5'- CCATCGCTGTGAAAGTATGGATGAAG -3'

Posted On

2015-08-18