Mutagenetix > Incidental Mutation

Incidental Mutation 'R6290:Or1j20'

508335

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

044460-MU

Accession Numbers

Essential gene?

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

Stock #

R6290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36759580-36760527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36760448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 290 (P290L)

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: P290L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070758
Gene: ENSMUSG00000053146
AA Change: P290L

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: P290L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	T	A	1: 173,289,681 (GRCm39)	I208N	possibly damaging	Het
Albfm1	T	C	5: 90,740,864 (GRCm39)		probably null	Het
Ank3	A	C	10: 69,827,198 (GRCm39)		probably benign	Het
Arfgef1	T	C	1: 10,259,036 (GRCm39)	E687G	possibly damaging	Het
Ash1l	T	A	3: 88,890,068 (GRCm39)	L649*	probably null	Het
Atp7b	C	T	8: 22,510,836 (GRCm39)	G437S	probably damaging	Het
Cep89	G	A	7: 35,119,688 (GRCm39)	G349D	probably damaging	Het
Cntn6	T	A	6: 104,744,851 (GRCm39)	Y315N	probably damaging	Het
Cspg4b	A	T	13: 113,456,492 (GRCm39)	N846I	probably damaging	Het
Csrp2	T	C	10: 110,767,844 (GRCm39)	C10R	probably damaging	Het
Cux1	T	C	5: 136,340,412 (GRCm39)	N625D	probably damaging	Het
Dnah9	T	C	11: 65,732,201 (GRCm39)	N4235S	probably damaging	Het
Dpy19l1	A	G	9: 24,373,896 (GRCm39)	C265R	probably damaging	Het
Dse	A	G	10: 34,028,336 (GRCm39)	M918T	probably benign	Het
Duox1	C	A	2: 122,164,288 (GRCm39)	T916N	possibly damaging	Het
E130308A19Rik	A	T	4: 59,691,332 (GRCm39)	I389F	probably benign	Het
Eif2ak1	T	A	5: 143,821,617 (GRCm39)	V311D	probably benign	Het
Eps15	T	A	4: 109,220,395 (GRCm39)	M534K	probably benign	Het
Gpr182	A	T	10: 127,586,893 (GRCm39)	F19L	probably benign	Het
Ifi214	T	A	1: 173,356,983 (GRCm39)	D40V	probably damaging	Het
Klhl2	A	G	8: 65,264,351 (GRCm39)	V121A	possibly damaging	Het
Klrh1	A	G	6: 129,743,658 (GRCm39)	Y209H	probably benign	Het
Mylk	T	A	16: 34,715,213 (GRCm39)	S514T	probably benign	Het
Myo18b	C	T	5: 113,013,601 (GRCm39)	R785H	possibly damaging	Het
Naga	T	G	15: 82,219,057 (GRCm39)	D230A	possibly damaging	Het
Napsa	A	G	7: 44,230,761 (GRCm39)	N70D	probably benign	Het
Nup210l	T	A	3: 90,027,216 (GRCm39)	Y199*	probably null	Het
Olfml2b	A	T	1: 170,477,359 (GRCm39)	K165*	probably null	Het
Paxip1	A	T	5: 27,970,576 (GRCm39)		probably null	Het
Pcyox1	T	A	6: 86,365,881 (GRCm39)	K444N	probably benign	Het
Pikfyve	T	A	1: 65,242,084 (GRCm39)		probably null	Het
Ppp6r3	T	C	19: 3,544,011 (GRCm39)	I335V	probably benign	Het
Prkcz	A	G	4: 155,440,956 (GRCm39)	S71P	probably damaging	Het
Psg19	C	T	7: 18,528,014 (GRCm39)	R243Q	probably benign	Het
Ptbp2	A	T	3: 119,517,769 (GRCm39)	M382K	possibly damaging	Het
Slc16a14	T	A	1: 84,885,106 (GRCm39)	I478L	probably benign	Het
Slc45a1	A	T	4: 150,727,096 (GRCm39)	N174K	probably damaging	Het
Slc5a5	G	A	8: 71,343,822 (GRCm39)	T160I	probably damaging	Het
Smpdl3b	T	A	4: 132,465,586 (GRCm39)	H278L	possibly damaging	Het
Sorcs2	C	T	5: 36,219,931 (GRCm39)	R371H	probably damaging	Het
Synpo2	A	T	3: 122,910,701 (GRCm39)	S315T	probably damaging	Het
Taok3	A	G	5: 117,342,433 (GRCm39)	Y137C	probably damaging	Het
Tapbpl	T	C	6: 125,207,679 (GRCm39)	D49G	probably benign	Het
Tbr1	T	C	2: 61,635,394 (GRCm39)	S115P	probably benign	Het
Trim67	C	T	8: 125,549,918 (GRCm39)	T516I	probably benign	Het
Trrap	T	A	5: 144,741,828 (GRCm39)	L1351Q	probably damaging	Het
Tsc2	A	G	17: 24,815,884 (GRCm39)	I166T	probably benign	Het
Tspan8	T	A	10: 115,663,729 (GRCm39)	C22S	probably damaging	Het
Tyro3	T	C	2: 119,647,321 (GRCm39)	S813P	probably benign	Het
U2af2	G	T	7: 5,078,683 (GRCm39)	V421L	probably benign	Het
Vmn1r77	T	C	7: 11,775,736 (GRCm39)	S103P	probably damaging	Het
Vmn2r1	T	A	3: 64,012,873 (GRCm39)	D911E	probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmn2r56	A	T	7: 12,428,809 (GRCm39)	C486S	probably damaging	Het
Vwa8	A	G	14: 79,331,772 (GRCm39)		probably null	Het
Xirp1	T	G	9: 119,847,791 (GRCm39)	E364A	probably benign	Het
Zbp1	T	C	2: 173,057,634 (GRCm39)	E99G	probably damaging	Het
Zfp385b	C	A	2: 77,280,612 (GRCm39)	V109F	possibly damaging	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
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
R8967:Or1j20	UTSW	2	36,760,066 (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'- ATGGCTACATTGGAGCCACC -3'
(R):5'- GAGCAAAAGCCGGTATCATATG -3'

Sequencing Primer
(F):5'- TGGAGCCACCATCCTAAGAACTC -3'
(R):5'- TTCCTCCAAGACTTTAAAAACTGAC -3'

Posted On

2018-03-15