Mutagenetix > Incidental Mutation

Incidental Mutation 'R8967:Or1j20'

682779

Institutional Source

Beutler Lab

Gene Symbol

Or1j20

Ensembl Gene

ENSMUSG00000053146

Gene Name

olfactory receptor family 1 subfamily J member 20

Synonyms

MOR136-10, GA_x6K02T2NLDC-33564136-33565083, Olfr352

MMRRC Submission

068801-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R8967 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36759580-36760527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36760066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 163 (T163S)

Ref Sequence

ENSEMBL: ENSMUSP00000149568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065416] [ENSMUST00000217325]

AlphaFold

Q8VGJ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000065416
AA Change: T163S

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

SMART Domains

Protein: ENSMUSP00000070758
Gene: ENSMUSG00000053146
AA Change: T163S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	1.4e-56	PFAM
Pfam:7TM_GPCR_Srsx	38	308	1.8e-7	PFAM
Pfam:7tm_1	44	293	1.2e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217325
AA Change: T163S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (52/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,242,696 (GRCm39)	S1520P	probably benign	Het
Abhd12	A	G	2: 150,679,351 (GRCm39)	Y291H	probably damaging	Het
Abr	C	A	11: 76,369,855 (GRCm39)	S178I	possibly damaging	Het
Akap13	T	A	7: 75,378,882 (GRCm39)	I422K	possibly damaging	Het
Arfgef2	A	T	2: 166,677,662 (GRCm39)	T185S	probably damaging	Het
Arfip2	A	T	7: 105,286,341 (GRCm39)	Y228N	probably damaging	Het
B4gat1	T	C	19: 5,089,678 (GRCm39)	V225A	probably damaging	Het
Brf1	G	A	12: 112,937,239 (GRCm39)	P183S	probably damaging	Het
Ceacam1	T	C	7: 25,163,297 (GRCm39)	N312S	possibly damaging	Het
Cep135	T	C	5: 76,751,165 (GRCm39)	L337P	probably damaging	Het
Cnppd1	A	T	1: 75,113,265 (GRCm39)	C334*	probably null	Het
Cpxm2	A	T	7: 131,661,564 (GRCm39)	Y408N	probably damaging	Het
Dennd3	T	C	15: 73,419,426 (GRCm39)	V739A	possibly damaging	Het
Dlx3	T	C	11: 95,014,577 (GRCm39)	Y287H	probably damaging	Het
Dnah7a	A	T	1: 53,682,594 (GRCm39)		probably benign	Het
Dnah9	C	A	11: 66,015,938 (GRCm39)		probably null	Het
Dnai3	T	A	3: 145,761,395 (GRCm39)	N654Y	possibly damaging	Het
Dnajc1	A	T	2: 18,313,757 (GRCm39)	Y121*	probably null	Het
Ecel1	A	T	1: 87,078,862 (GRCm39)	Y526N	probably damaging	Het
Ect2	A	T	3: 27,199,132 (GRCm39)	V218E	probably damaging	Het
Heca	A	G	10: 17,790,738 (GRCm39)		probably null	Het
Hsd17b7	A	T	1: 169,796,685 (GRCm39)	L6*	probably null	Het
Irgc	T	A	7: 24,132,737 (GRCm39)	T27S	probably benign	Het
Lama3	A	C	18: 12,665,096 (GRCm39)	I671L	possibly damaging	Het
Mybl2	T	C	2: 162,914,806 (GRCm39)	L308P	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nphp1	G	A	2: 127,582,897 (GRCm39)	P672L	probably damaging	Het
Oas3	G	A	5: 120,896,907 (GRCm39)	H905Y	probably damaging	Het
Obscn	A	G	11: 58,972,740 (GRCm39)	V2102A	probably benign	Het
Or10j3	A	G	1: 173,031,039 (GRCm39)	T39A	probably benign	Het
Or2a57	T	C	6: 43,213,073 (GRCm39)	F177S	probably damaging	Het
Or4p8	A	T	2: 88,727,844 (GRCm39)	Y32*	probably null	Het
Or6z7	A	G	7: 6,484,011 (GRCm39)	L48P	possibly damaging	Het
Pank4	C	G	4: 155,055,415 (GRCm39)	H262D	probably benign	Het
Phkb	T	A	8: 86,756,063 (GRCm39)		probably benign	Het
Pxylp1	G	A	9: 96,707,324 (GRCm39)	T286M	probably damaging	Het
Pygm	A	T	19: 6,434,744 (GRCm39)	D79V	probably damaging	Het
Rapgef4	A	G	2: 72,056,854 (GRCm39)	T682A	possibly damaging	Het
Sec24b	C	T	3: 129,785,084 (GRCm39)	R974Q	probably damaging	Het
Serpinb6e	A	G	13: 34,020,419 (GRCm39)	F230L	possibly damaging	Het
Skint6	A	T	4: 112,729,701 (GRCm39)	L850*	probably null	Het
Slc7a11	C	A	3: 50,338,564 (GRCm39)	V282L	probably benign	Het
Smg1	A	G	7: 117,765,739 (GRCm39)	S1895P	unknown	Het
Tango2	A	G	16: 18,165,763 (GRCm39)		probably benign	Het
Tmc7	G	A	7: 118,160,228 (GRCm39)	P203L	probably benign	Het
Tmem64	T	A	4: 15,266,575 (GRCm39)	F208L	probably damaging	Het
Tpcn1	A	T	5: 120,694,023 (GRCm39)	V191E	probably damaging	Het
Zbtb41	A	G	1: 139,370,587 (GRCm39)	I675V	probably benign	Het
Zfp180	T	C	7: 23,804,726 (GRCm39)	S382P	probably damaging	Het
Zfp932	A	G	5: 110,156,883 (GRCm39)	S194G	probably benign	Het

Other mutations in Or1j20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:Or1j20	APN	2	36,760,222 (GRCm39)	missense	probably benign	0.01
IGL01538:Or1j20	APN	2	36,760,532 (GRCm39)	utr 3 prime	probably benign
IGL01716:Or1j20	APN	2	36,759,679 (GRCm39)	missense	probably benign	0.11
IGL01735:Or1j20	APN	2	36,759,698 (GRCm39)	missense	possibly damaging	0.95
IGL01998:Or1j20	APN	2	36,759,658 (GRCm39)	missense	probably benign	0.01
IGL02820:Or1j20	APN	2	36,759,871 (GRCm39)	missense	probably benign	0.01
IGL03267:Or1j20	APN	2	36,760,513 (GRCm39)	missense	probably benign	0.00
IGL03306:Or1j20	APN	2	36,760,537 (GRCm39)	utr 3 prime	probably benign
R0013:Or1j20	UTSW	2	36,760,172 (GRCm39)	missense	probably damaging	1.00
R0081:Or1j20	UTSW	2	36,760,022 (GRCm39)	missense	possibly damaging	0.58
R0421:Or1j20	UTSW	2	36,759,653 (GRCm39)	missense	possibly damaging	0.89
R1613:Or1j20	UTSW	2	36,760,405 (GRCm39)	missense	possibly damaging	0.91
R1842:Or1j20	UTSW	2	36,759,601 (GRCm39)	missense	probably damaging	1.00
R2698:Or1j20	UTSW	2	36,760,208 (GRCm39)	missense	possibly damaging	0.94
R4463:Or1j20	UTSW	2	36,760,205 (GRCm39)	missense	probably benign	0.31
R4993:Or1j20	UTSW	2	36,760,000 (GRCm39)	missense	probably benign	0.30
R5553:Or1j20	UTSW	2	36,760,477 (GRCm39)	missense	probably benign	0.00
R5666:Or1j20	UTSW	2	36,760,401 (GRCm39)	missense	probably benign	0.11
R5934:Or1j20	UTSW	2	36,760,280 (GRCm39)	missense	probably benign	0.34
R6290:Or1j20	UTSW	2	36,760,448 (GRCm39)	missense	probably damaging	1.00
R6312:Or1j20	UTSW	2	36,760,477 (GRCm39)	missense	probably benign	0.02
R7358:Or1j20	UTSW	2	36,759,890 (GRCm39)	missense	probably benign
R8383:Or1j20	UTSW	2	36,760,343 (GRCm39)	missense	probably damaging	1.00
R8392:Or1j20	UTSW	2	36,760,352 (GRCm39)	missense	probably damaging	1.00
R9311:Or1j20	UTSW	2	36,760,405 (GRCm39)	missense	probably damaging	1.00
X0022:Or1j20	UTSW	2	36,760,289 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCCATCTCATATACGGGATGC -3'
(R):5'- GGCTCCAATGTAGCCATAAGAAAC -3'

Sequencing Primer
(F):5'- GGATGCATTTCCCAGGTGTAC -3'
(R):5'- AAGAAACCAAAATACATATCAATGGC -3'

Posted On

2021-10-11