Mutagenetix > Incidental Mutation

Incidental Mutation 'R8460:Or8b47'

660766

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

067905-MU

Accession Numbers

Essential gene?

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

Stock #

R8460 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38435026-38435965 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 38427926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000215139] [ENSMUST00000216496]

AlphaFold

A0A140T8K0

Predicted Effect

unknown
Transcript: ENSMUST00000215139
AA Change: L199F

Predicted Effect

probably benign
Transcript: ENSMUST00000216496

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
6030458C11Rik	T	C	15: 12,818,545 (GRCm39)		probably benign	Het
Abcb11	T	C	2: 69,154,381 (GRCm39)	M62V	possibly damaging	Het
Adgrf5	C	A	17: 43,750,699 (GRCm39)		probably benign	Het
Arhgap23	T	A	11: 97,343,197 (GRCm39)	V493D	probably damaging	Het
Atg9b	T	C	5: 24,591,966 (GRCm39)	K678E	probably damaging	Het
Catsperg2	T	C	7: 29,404,744 (GRCm39)	D773G	possibly damaging	Het
Cd180	T	C	13: 102,839,354 (GRCm39)	L79P	probably damaging	Het
Celsr2	C	T	3: 108,304,093 (GRCm39)	S2350N	possibly damaging	Het
Cep85l	C	A	10: 53,225,313 (GRCm39)	R92L	probably benign	Het
Cyp21a1	T	C	17: 35,021,844 (GRCm39)	D241G	probably benign	Het
Dock2	C	A	11: 34,180,825 (GRCm39)		probably null	Het
Fam163a	A	G	1: 155,955,712 (GRCm39)	Y27H	probably damaging	Het
Gmnc	G	A	16: 26,779,204 (GRCm39)	L274F	probably benign	Het
Gpc2	A	T	5: 138,274,891 (GRCm39)	C283S	probably damaging	Het
Grm5	A	G	7: 87,252,249 (GRCm39)	I166M	probably damaging	Het
Ighv3-1	A	T	12: 113,928,056 (GRCm39)	L101*	probably null	Het
Impact	C	T	18: 13,109,564 (GRCm39)	S86L	probably benign	Het
Kif1b	C	T	4: 149,272,077 (GRCm39)	V1575I	possibly damaging	Het
Klhl6	A	G	16: 19,775,781 (GRCm39)	V259A	probably damaging	Het
Krt81	G	T	15: 101,361,493 (GRCm39)	A29E	probably damaging	Het
Ldah	A	G	12: 8,318,548 (GRCm39)	N219S	probably benign	Het
Map3k12	C	T	15: 102,410,032 (GRCm39)	R581Q	probably damaging	Het
Marveld3	T	C	8: 110,681,040 (GRCm39)	D285G	probably benign	Het
Mcpt2	A	G	14: 56,281,201 (GRCm39)	D135G	possibly damaging	Het
Megf6	T	A	4: 154,350,634 (GRCm39)	C1048*	probably null	Het
Megf9	A	T	4: 70,374,208 (GRCm39)	V276D	probably damaging	Het
Nfya	T	C	17: 48,698,974 (GRCm39)	H273R	possibly damaging	Het
Olah	T	A	2: 3,362,762 (GRCm39)	Q21H	probably damaging	Het
Or10s1	T	C	9: 39,986,353 (GRCm39)	L254P	probably damaging	Het
Or51t4	T	A	7: 102,598,531 (GRCm39)	C286*	probably null	Het
Or7g21	T	C	9: 19,032,988 (GRCm39)	S243P	probably damaging	Het
Or8k23	T	G	2: 86,186,198 (GRCm39)	H176P	probably damaging	Het
Or9s23	T	A	1: 92,501,268 (GRCm39)	M125K	probably damaging	Het
Pcdhgb6	T	A	18: 37,877,278 (GRCm39)	L662Q	possibly damaging	Het
Pou4f3	T	C	18: 42,529,053 (GRCm39)	M332T	probably damaging	Het
Pramel19	C	T	4: 101,798,424 (GRCm39)	P132S	probably benign	Het
Pramel58	T	A	5: 94,831,790 (GRCm39)	C266S	probably benign	Het
Prg4	G	A	1: 150,331,692 (GRCm39)	S327L	possibly damaging	Het
Rdh5	C	T	10: 128,754,136 (GRCm39)	R99H	probably benign	Het
Setd1a	T	C	7: 127,383,292 (GRCm39)	F263L	unknown	Het
Setd2	A	G	9: 110,423,338 (GRCm39)	N353S		Het
Sh3gl1	T	C	17: 56,326,321 (GRCm39)	N109S	probably benign	Het
Sidt1	A	T	16: 44,107,705 (GRCm39)	Y188*	probably null	Het
Slc25a13	A	T	6: 6,073,513 (GRCm39)	N448K	probably damaging	Het
Slc44a5	G	A	3: 153,975,667 (GRCm39)	V693M	probably benign	Het
Smad7	T	C	18: 75,503,968 (GRCm39)	S206P	probably damaging	Het
Snx33	T	A	9: 56,833,476 (GRCm39)	I198F	possibly damaging	Het
Vps13d	A	T	4: 144,897,009 (GRCm39)		probably benign	Het
Vps33b	T	C	7: 79,937,617 (GRCm39)	V455A	probably benign	Het
Zdbf2	CGCTCCGTGCCCCCCGCGCGCCCCGTGCCTCCCACGCGCCCCGTGCCTCCCGCAGGCTCCGTGCCCCCCGCG	CGCTCCGTGCCCCCCGCG	1: 63,348,729 (GRCm39)		probably benign	Het
Zfp26	A	T	9: 20,348,373 (GRCm39)	H730Q	probably damaging	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
R5820:Or8b47	UTSW	9	38,435,895 (GRCm39)	missense	possibly damaging	0.52
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
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'- TGGCCATATGCAATCCACTC -3'
(R):5'- GAATGCGCCTGAACCAAAG -3'

Sequencing Primer
(F):5'- AACATTGCTATGTCTCCCAAGG -3'
(R):5'- TGCGCCTGAACCAAAGAATAAAG -3'

Posted On

2021-02-03