Mutagenetix > Incidental Mutation

Incidental Mutation 'R5666:Or1j20'

444396

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

043309-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R5666 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36759580-36760527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36760401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 274 (D274E)

Ref Sequence

ENSEMBL: ENSMUSP00000149568 (fasta)

Gene Model

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

AlphaFold

Q8VGJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000065416
AA Change: D274E

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000070758
Gene: ENSMUSG00000053146
AA Change: D274E

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 benign
Transcript: ENSMUST00000217325
AA Change: D274E

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

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
4930524J08Rik	T	C	5: 100,127,068 (GRCm39)		probably benign	Het
Abce1	C	A	8: 80,416,906 (GRCm39)	E368D	probably benign	Het
Becn2	C	T	1: 175,749,179 (GRCm39)	T415M	probably damaging	Het
Bmper	T	A	9: 23,384,759 (GRCm39)	M588K	probably damaging	Het
Bop1	T	C	15: 76,338,433 (GRCm39)	E503G	probably benign	Het
Btla	A	T	16: 45,070,782 (GRCm39)	D247V	probably damaging	Het
Cap2	T	A	13: 46,684,559 (GRCm39)		probably null	Het
Chd2	A	T	7: 73,091,465 (GRCm39)	I1592K	probably benign	Het
Chd3	T	C	11: 69,244,177 (GRCm39)	E1202G	possibly damaging	Het
Cmya5	T	C	13: 93,182,457 (GRCm39)	I3568V	possibly damaging	Het
Col4a4	A	G	1: 82,463,300 (GRCm39)		probably null	Het
Cpxm2	C	T	7: 131,656,625 (GRCm39)	E546K	probably benign	Het
Cyp2j5	C	T	4: 96,546,930 (GRCm39)	V195I	probably benign	Het
Ddb2	C	T	2: 91,042,926 (GRCm39)	V353M	probably damaging	Het
Dscam	G	A	16: 96,519,364 (GRCm39)	T791I	probably benign	Het
Dtd2	T	A	12: 52,046,643 (GRCm39)	L65F	probably damaging	Het
E2f1	T	A	2: 154,411,101 (GRCm39)		probably benign	Het
Ephb3	A	G	16: 21,041,241 (GRCm39)	N732S	probably benign	Het
Fkbp10	G	T	11: 100,314,352 (GRCm39)	W384L	probably damaging	Het
Foxm1	C	T	6: 128,350,130 (GRCm39)	S339L	possibly damaging	Het
Fzd6	A	T	15: 38,894,510 (GRCm39)	R225S	probably benign	Het
Gfpt1	A	T	6: 87,030,795 (GRCm39)	I60F	possibly damaging	Het
Glce	A	G	9: 61,967,793 (GRCm39)	S453P	probably damaging	Het
Gm4787	G	A	12: 81,424,805 (GRCm39)	T451I	probably benign	Het
Hs2st1	A	T	3: 144,275,554 (GRCm39)	V22E	probably damaging	Het
Hspa9	T	C	18: 35,087,300 (GRCm39)	I2V	probably null	Het
Ikzf2	A	G	1: 69,617,059 (GRCm39)	V96A	probably benign	Het
Ilkap	T	C	1: 91,318,863 (GRCm39)	T38A	probably benign	Het
Lpin3	A	G	2: 160,739,250 (GRCm39)	T353A	probably benign	Het
Myh1	T	A	11: 67,112,178 (GRCm39)	I1744N	probably benign	Het
Nadsyn1	C	T	7: 143,361,168 (GRCm39)	G335S	probably damaging	Het
Ndc1	T	C	4: 107,246,723 (GRCm39)	V382A	possibly damaging	Het
Ndufaf4	A	T	4: 24,898,636 (GRCm39)	D64V	probably damaging	Het
Nfe2l2	T	C	2: 75,507,462 (GRCm39)	T213A	probably benign	Het
Nkain4	A	G	2: 180,584,995 (GRCm39)	L73P	probably damaging	Het
Nmt1	C	T	11: 102,949,041 (GRCm39)	R299*	probably null	Het
Or2y8	A	C	11: 52,035,525 (GRCm39)	Y277*	probably null	Het
Or4b12	T	C	2: 90,096,308 (GRCm39)	I155M	probably benign	Het
Or5k1	G	A	16: 58,617,424 (GRCm39)	P262S	possibly damaging	Het
Padi2	G	T	4: 140,676,542 (GRCm39)	R560L	possibly damaging	Het
Palmd	T	C	3: 116,717,750 (GRCm39)	N249S	possibly damaging	Het
Pde1c	A	C	6: 56,103,842 (GRCm39)		probably null	Het
Pdgfra	T	C	5: 75,334,156 (GRCm39)	S410P	probably benign	Het
Phldb1	T	C	9: 44,627,078 (GRCm39)	M456V	probably damaging	Het
Pla2g2d	T	A	4: 138,507,591 (GRCm39)	C82S	probably damaging	Het
Rgs21	A	G	1: 144,412,680 (GRCm39)	V48A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Slc4a2	G	T	5: 24,639,836 (GRCm39)	V506L	probably damaging	Het
Slc7a4	A	G	16: 17,393,815 (GRCm39)		probably benign	Het
Sptbn5	C	G	2: 119,916,048 (GRCm39)		probably benign	Het
Sstr2	T	A	11: 113,515,539 (GRCm39)	W153R	probably damaging	Het
Steap2	C	T	5: 5,723,681 (GRCm39)	V400I	probably benign	Het
Syne2	G	A	12: 75,997,733 (GRCm39)	G2236D	probably benign	Het
Tas2r130	T	C	6: 131,607,342 (GRCm39)	N151S	possibly damaging	Het
Tex52	T	C	6: 128,352,518 (GRCm39)	S13P	probably benign	Het
Tmprss13	A	G	9: 45,256,253 (GRCm39)	I456V	probably damaging	Het
Trim24	T	C	6: 37,942,536 (GRCm39)	F946S	probably benign	Het
Vmn2r10	A	T	5: 109,146,910 (GRCm39)	Y459*	probably null	Het
Vwa1	A	G	4: 155,858,922 (GRCm39)	L13P	probably damaging	Het
Zfp648	C	A	1: 154,079,963 (GRCm39)	Q41K	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
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
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'- ACCACCATTAACGAACTGGTTATC -3'
(R):5'- TGTGAGAGGCCTTATGTCAGTC -3'

Sequencing Primer
(F):5'- ACGAACTGGTTATCTTCACTGTAGG -3'
(R):5'- TGAGAGGCCTTATGTCAGTCAATAAG -3'

Posted On

2016-11-09