Mutagenetix > Incidental Mutation

Incidental Mutation 'R2121:Or8j3'

231429

Institutional Source

Beutler Lab

Gene Symbol

Or8j3

Ensembl Gene

ENSMUSG00000075198

Gene Name

olfactory receptor family 8 subfamily J member 3

Synonyms

Olfr28, MTPCR11, GA_x6K02T2Q125-47672825-47671878, Olfr1045, MOR185-2

MMRRC Submission

040125-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R2121 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86028147-86029094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86028340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 252 (Y252F)

Ref Sequence

ENSEMBL: ENSMUSP00000148982 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099904] [ENSMUST00000215763]

AlphaFold

Q7TR80

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099904
AA Change: Y252F

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097488
Gene: ENSMUSG00000075198
AA Change: Y252F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	3.2e-43	PFAM
Pfam:7tm_1	41	290	5.7e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215763
AA Change: Y252F

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216885

Meta Mutation Damage Score

0.3894

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Adnp2	A	G	18: 80,172,385 (GRCm39)	F675L	probably benign	Het
Akna	G	A	4: 63,295,137 (GRCm39)	T1024I	probably benign	Het
Ambn	T	A	5: 88,608,617 (GRCm39)		probably benign	Het
Aox3	T	C	1: 58,191,708 (GRCm39)		probably benign	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Arhgef26	A	T	3: 62,247,704 (GRCm39)	N263Y	probably damaging	Het
Arpp21	A	G	9: 111,965,738 (GRCm39)	S375P	probably damaging	Het
Bscl2	G	T	19: 8,817,146 (GRCm39)	E25*	probably null	Het
Ccl12	T	A	11: 81,992,776 (GRCm39)	S17R	probably damaging	Het
Cdh1	A	G	8: 107,390,842 (GRCm39)	I653V	probably benign	Het
Ceacam9	T	A	7: 16,455,928 (GRCm39)	F12I	probably benign	Het
Cfap47	T	C	X: 78,553,927 (GRCm39)	I267V	probably benign	Het
Cldn23	A	G	8: 36,293,389 (GRCm39)	V33A	probably benign	Het
Cog1	T	C	11: 113,540,424 (GRCm39)	L13P	probably damaging	Het
Col20a1	G	C	2: 180,638,249 (GRCm39)	A346P	probably damaging	Het
Col6a3	T	C	1: 90,738,087 (GRCm39)	D537G	probably damaging	Het
Ctnnd2	G	A	15: 30,669,660 (GRCm39)	R423H	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Dcdc2a	T	G	13: 25,303,268 (GRCm39)	S266R	possibly damaging	Het
Diaph1	A	T	18: 38,029,442 (GRCm39)	M330K	unknown	Het
Dnah5	C	T	15: 28,297,151 (GRCm39)		probably benign	Het
F13a1	T	A	13: 37,209,653 (GRCm39)	Y104F	probably benign	Het
Fam78b	G	A	1: 166,906,278 (GRCm39)	V146M	probably damaging	Het
Fancl	G	T	11: 26,409,841 (GRCm39)		probably benign	Het
Gm10477	A	G	X: 55,570,192 (GRCm39)	K31E	probably damaging	Het
Gstm7	T	C	3: 107,834,230 (GRCm39)	M175V	probably benign	Het
Hcn4	T	C	9: 58,731,341 (GRCm39)	S183P	unknown	Het
Heatr1	T	C	13: 12,418,145 (GRCm39)	V359A	probably benign	Het
Ikbkb	T	C	8: 23,157,233 (GRCm39)		probably benign	Het
Ints6l	T	A	X: 55,550,228 (GRCm39)	S718T	probably benign	Het
Kctd5	T	C	17: 24,274,940 (GRCm39)	T212A	probably benign	Het
Kdm3b	T	C	18: 34,929,833 (GRCm39)		probably benign	Het
Ltbp1	T	A	17: 75,617,154 (GRCm39)	V1031E	possibly damaging	Het
Lyst	A	G	13: 13,835,556 (GRCm39)	Y1746C	probably damaging	Het
Mageb5	A	G	X: 90,823,701 (GRCm39)	I226T	probably damaging	Het
Mdc1	C	T	17: 36,158,835 (GRCm39)	A405V	probably benign	Het
Mlc1	A	G	15: 88,847,634 (GRCm39)	Y305H	probably benign	Het
Mtcl2	T	C	2: 156,875,245 (GRCm39)	E835G	probably damaging	Het
Muc4	A	G	16: 32,580,612 (GRCm39)	Y2474C	unknown	Het
Mybphl	A	C	3: 108,282,492 (GRCm39)	N175T	probably damaging	Het
Ncbp3	T	C	11: 72,944,304 (GRCm39)	V102A	possibly damaging	Het
Neb	A	G	2: 52,154,076 (GRCm39)	F2345S	probably damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Odad4	T	A	11: 100,457,837 (GRCm39)		probably null	Het
Or7e173	T	G	9: 19,938,797 (GRCm39)	I146L	probably benign	Het
Palb2	T	C	7: 121,727,004 (GRCm39)	T289A	possibly damaging	Het
Pde10a	A	T	17: 9,196,047 (GRCm39)	Q657L	probably damaging	Het
Ppp2r2a	A	T	14: 67,260,577 (GRCm39)	F234I	probably damaging	Het
Prl3c1	T	A	13: 27,383,325 (GRCm39)		probably null	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Serpina3m	A	G	12: 104,355,941 (GRCm39)	M203V	possibly damaging	Het
Slc6a21	A	T	7: 44,937,886 (GRCm39)	I726F	probably benign	Het
Spmap2l	A	T	5: 77,208,605 (GRCm39)	I378L	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tfdp2	T	C	9: 96,177,067 (GRCm39)	S75P	probably damaging	Het
Tll1	T	C	8: 64,538,591 (GRCm39)	E351G	probably benign	Het
Tmed11	G	A	5: 108,943,198 (GRCm39)		probably benign	Het
Tmem81	C	A	1: 132,435,847 (GRCm39)	Q218K	probably benign	Het
Tnfsf11	G	A	14: 78,537,333 (GRCm39)	T110I	probably benign	Het
Tub	G	A	7: 108,625,944 (GRCm39)	G232S	probably damaging	Het
Vmn2r121	A	T	X: 123,043,439 (GRCm39)		probably null	Het
Vwa5b1	T	C	4: 138,315,880 (GRCm39)	T621A	probably benign	Het
Ythdf3	T	C	3: 16,259,356 (GRCm39)	F501S	possibly damaging	Het

Other mutations in Or8j3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01350:Or8j3	APN	2	86,028,149 (GRCm39)	makesense	probably null
IGL01914:Or8j3	APN	2	86,029,016 (GRCm39)	missense	probably benign	0.45
IGL01991:Or8j3	APN	2	86,028,877 (GRCm39)	missense	probably benign	0.23
IGL02623:Or8j3	APN	2	86,028,363 (GRCm39)	missense	probably damaging	1.00
R0325:Or8j3	UTSW	2	86,029,055 (GRCm39)	missense	possibly damaging	0.51
R0730:Or8j3	UTSW	2	86,029,069 (GRCm39)	missense	probably benign	0.14
R1457:Or8j3	UTSW	2	86,028,596 (GRCm39)	missense	probably damaging	0.99
R2037:Or8j3	UTSW	2	86,028,176 (GRCm39)	missense	probably benign
R2271:Or8j3	UTSW	2	86,028,161 (GRCm39)	missense	probably benign	0.00
R3836:Or8j3	UTSW	2	86,029,006 (GRCm39)	missense	probably benign	0.02
R4669:Or8j3	UTSW	2	86,028,277 (GRCm39)	missense	possibly damaging	0.90
R6082:Or8j3	UTSW	2	86,028,661 (GRCm39)	missense	probably damaging	0.97
R7326:Or8j3	UTSW	2	86,028,917 (GRCm39)	missense	probably damaging	1.00
R7463:Or8j3	UTSW	2	86,028,182 (GRCm39)	missense	probably benign
R7523:Or8j3	UTSW	2	86,028,389 (GRCm39)	missense	probably damaging	0.99
R7842:Or8j3	UTSW	2	86,028,516 (GRCm39)	nonsense	probably null
R7919:Or8j3	UTSW	2	86,028,609 (GRCm39)	nonsense	probably null
R9763:Or8j3	UTSW	2	86,028,181 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- CACATGGACTTGTCATGAATCTC -3'
(R):5'- GCACAGCCATTGTCGTTTCATC -3'

Sequencing Primer
(F):5'- GTCATGAATCTCTTTAAAGCGGCC -3'
(R):5'- TGACACCTACCTTCCAGAAACTGTAG -3'

Posted On

2014-09-18