Mutagenetix > Incidental Mutation

Incidental Mutation 'R5820:Or8b47'

449867

Institutional Source

Beutler Lab

Gene Symbol

Or8b47

Ensembl Gene

ENSMUSG00000062621

Gene Name

olfactory receptor family 8 subfamily B member 47

Synonyms

GA_x6K02T2PVTD-32247224-32248163, Olfr911, MOR165-1, GA_x6K02T2PVTD-32223906-32224841, Olfr909, MOR166-1

MMRRC Submission

043400-MU

Accession Numbers

Essential gene?

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

Stock #

R5820 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38435026-38435965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38435895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 289 (I289T)

Ref Sequence

ENSEMBL: ENSMUSP00000150446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074987] [ENSMUST00000216496]

AlphaFold

A0A140T8K0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074987
AA Change: I289T

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000074515
Gene: ENSMUSG00000062621
AA Change: I289T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.2e-46	PFAM
Pfam:7tm_1	41	290	9.8e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216496
AA Change: I289T

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	G	14: 118,841,607 (GRCm39)	Y596H	probably benign	Het
Adgrg3	A	T	8: 95,766,221 (GRCm39)	M351L	possibly damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arhgef38	A	T	3: 132,866,560 (GRCm39)	D192E	probably benign	Het
Arhgef40	T	C	14: 52,224,953 (GRCm39)	F33L	possibly damaging	Het
Arid1b	A	G	17: 5,046,529 (GRCm39)	Y439C	possibly damaging	Het
Bltp1	T	C	3: 37,093,675 (GRCm39)	V875A	probably benign	Het
Bop1	G	A	15: 76,339,041 (GRCm39)	P386S	probably damaging	Het
Cacna1s	A	G	1: 136,007,342 (GRCm39)	H453R	probably damaging	Het
Canx	A	G	11: 50,199,210 (GRCm39)	V153A	probably damaging	Het
Chfr	T	A	5: 110,310,605 (GRCm39)	D475E	possibly damaging	Het
Clcn7	A	C	17: 25,368,026 (GRCm39)	K208T	probably damaging	Het
Cmya5	G	T	13: 93,229,288 (GRCm39)	N1933K	probably benign	Het
CN725425	A	G	15: 91,144,900 (GRCm39)	T588A	possibly damaging	Het
Cwh43	G	A	5: 73,585,975 (GRCm39)	W358*	probably null	Het
Cyfip2	A	T	11: 46,091,531 (GRCm39)	W1130R	probably damaging	Het
Ddx60	A	T	8: 62,409,155 (GRCm39)	D397V	possibly damaging	Het
Disp1	T	C	1: 182,917,151 (GRCm39)	S92G	probably benign	Het
Dusp6	A	G	10: 99,099,864 (GRCm39)	D104G	possibly damaging	Het
Dzank1	C	T	2: 144,355,408 (GRCm39)	V96M	probably damaging	Het
Ecscr	C	A	18: 35,850,320 (GRCm39)	V52F	possibly damaging	Het
Epha7	A	T	4: 28,949,365 (GRCm39)	N712I	probably damaging	Het
Eva1a	C	T	6: 82,048,154 (GRCm39)	P11S	probably benign	Het
Fam187b	T	C	7: 30,676,577 (GRCm39)	C29R	probably damaging	Het
Fau	T	C	19: 6,109,452 (GRCm39)	V117A	probably benign	Het
Fbxw11	A	G	11: 32,685,374 (GRCm39)	D369G	probably damaging	Het
Fkbp15	A	G	4: 62,263,783 (GRCm39)	F95L	probably benign	Het
Fkbp6	A	T	5: 135,368,774 (GRCm39)		probably null	Het
Fmo9	T	C	1: 166,492,170 (GRCm39)	K367E	possibly damaging	Het
Gad2	T	C	2: 22,580,261 (GRCm39)	V554A	probably benign	Het
Gm18025	T	C	12: 34,340,631 (GRCm39)	D154G	probably benign	Het
Gm4353	A	G	7: 115,683,693 (GRCm39)	F34S	possibly damaging	Het
Gucy2e	A	G	11: 69,123,522 (GRCm39)	I459T	probably benign	Het
Hpx	A	G	7: 105,240,995 (GRCm39)	I426T	possibly damaging	Het
Hspa9	T	C	18: 35,076,227 (GRCm39)	T362A	possibly damaging	Het
Insr	G	A	8: 3,205,976 (GRCm39)	P1271L	probably damaging	Het
Jarid2	G	A	13: 45,055,777 (GRCm39)	V328I	possibly damaging	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kif18b	A	G	11: 102,803,874 (GRCm39)	S429P	probably benign	Het
Lats1	A	T	10: 7,581,672 (GRCm39)	H819L	probably damaging	Het
Lmnb1	T	A	18: 56,873,858 (GRCm39)	D421E	possibly damaging	Het
Lrp4	T	C	2: 91,322,960 (GRCm39)	I1148T	probably damaging	Het
Map1b	T	A	13: 99,569,332 (GRCm39)	M1130L	unknown	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Myh6	T	C	14: 55,196,137 (GRCm39)	Y554C	probably damaging	Het
Myl4	T	C	11: 104,474,806 (GRCm39)	F52L	probably damaging	Het
Nol12	C	T	15: 78,824,680 (GRCm39)	T169I	probably benign	Het
Nrde2	C	T	12: 100,098,546 (GRCm39)	R707H	probably benign	Het
Oasl1	G	A	5: 115,075,037 (GRCm39)	V366M	possibly damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Polrmt	C	T	10: 79,574,157 (GRCm39)		probably null	Het
Ppil4	A	G	10: 7,686,174 (GRCm39)	D344G	probably null	Het
Ppp2r3d	C	T	9: 124,422,765 (GRCm38)	A69T	possibly damaging	Het
Prmt3	C	T	7: 49,498,554 (GRCm39)	P487S	probably damaging	Het
Ptprm	A	T	17: 66,996,460 (GRCm39)	L1209H	probably damaging	Het
Rnf115	G	A	3: 96,635,164 (GRCm39)		probably benign	Het
Sec63	A	G	10: 42,672,241 (GRCm39)	D185G	possibly damaging	Het
Sema4b	T	C	7: 79,874,706 (GRCm39)	S699P	probably damaging	Het
Serpinb3d	T	G	1: 107,006,089 (GRCm39)	E333A	probably damaging	Het
Sh3rf2	T	C	18: 42,274,112 (GRCm39)	L426P	possibly damaging	Het
Slco6d1	A	G	1: 98,427,503 (GRCm39)	I611M	probably damaging	Het
Stk31	T	A	6: 49,394,219 (GRCm39)	Y194N	probably damaging	Het
Tlr9	G	A	9: 106,099,906 (GRCm39)		probably null	Het
Ubqln3	G	A	7: 103,790,674 (GRCm39)	P472L	probably benign	Het
Vmn1r188	G	A	13: 22,272,256 (GRCm39)	G70D	possibly damaging	Het
Zfp318	A	G	17: 46,723,699 (GRCm39)	M1901V	probably benign	Het
Zfp407	A	T	18: 84,578,649 (GRCm39)	D821E	probably benign	Het

Other mutations in Or8b47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Or8b47	APN	9	38,435,029 (GRCm39)	utr 5 prime	probably benign
IGL02319:Or8b47	APN	9	38,435,166 (GRCm39)	missense	probably damaging	0.97
IGL02415:Or8b47	APN	9	38,435,408 (GRCm39)	missense	probably benign	0.42
IGL02536:Or8b47	APN	9	38,435,460 (GRCm39)	missense	probably damaging	1.00
IGL02702:Or8b47	APN	9	38,435,856 (GRCm39)	missense	probably damaging	1.00
IGL02926:Or8b47	APN	9	38,435,021 (GRCm39)	utr 5 prime	probably benign
R0499:Or8b47	UTSW	9	38,435,801 (GRCm39)	missense	probably benign	0.01
R0662:Or8b47	UTSW	9	38,435,322 (GRCm39)	missense	probably damaging	0.99
R0799:Or8b47	UTSW	9	38,435,437 (GRCm39)	missense	probably benign	0.01
R1186:Or8b47	UTSW	9	38,435,453 (GRCm39)	missense	probably damaging	0.97
R1681:Or8b47	UTSW	9	38,435,413 (GRCm39)	missense	probably benign	0.03
R3522:Or8b47	UTSW	9	38,435,081 (GRCm39)	missense	probably damaging	1.00
R6597:Or8b47	UTSW	9	38,435,300 (GRCm39)	missense	probably benign	0.00
R7721:Or8b47	UTSW	9	38,435,013 (GRCm39)	critical splice acceptor site	probably null
R7846:Or8b47	UTSW	9	38,435,675 (GRCm39)	missense	probably benign	0.00
R7985:Or8b47	UTSW	9	38,435,239 (GRCm39)	missense	probably damaging	1.00
R8339:Or8b47	UTSW	9	38,435,717 (GRCm39)	missense	probably damaging	1.00
R8460:Or8b47	UTSW	9	38,427,926 (GRCm39)	unclassified	probably benign
R9143:Or8b47	UTSW	9	38,427,917 (GRCm39)	unclassified	probably benign
R9287:Or8b47	UTSW	9	38,435,082 (GRCm39)	missense	probably damaging	1.00
Z1088:Or8b47	UTSW	9	38,435,155 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAATGTCCAAAGCATTTAGCAC -3'
(R):5'- GGATACATCCAGAATACCAGTGAG -3'

Sequencing Primer
(F):5'- AGCACCTGTAGCTCCCATATACTTG -3'
(R):5'- CATCCAGAATACCAGTGAGAATAAG -3'

Posted On

2016-12-20