Mutagenetix > Incidental Mutation

Incidental Mutation 'R0799:Or8b47'

76536

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

038979-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R0799 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38435026-38435965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38435437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 136 (M136I)

Ref Sequence

ENSEMBL: ENSMUSP00000150446 (fasta)

Gene Model

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

AlphaFold

A0A140T8K0

Predicted Effect

probably benign
Transcript: ENSMUST00000074987
AA Change: M136I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000074515
Gene: ENSMUSG00000062621
AA Change: M136I

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

probably benign
Transcript: ENSMUST00000216496
AA Change: M136I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.9%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	G	A	4: 103,100,101 (GRCm39)	T33I	possibly damaging	Het
4930555F03Rik	A	G	8: 49,948,474 (GRCm39)		noncoding transcript	Het
Abcf3	T	C	16: 20,378,084 (GRCm39)	L538P	probably damaging	Het
Adamts6	T	C	13: 104,450,779 (GRCm39)	S321P	probably damaging	Het
Adgra2	G	A	8: 27,602,523 (GRCm39)	R362H	probably damaging	Het
AI597479	T	G	1: 43,150,330 (GRCm39)	S147A	probably benign	Het
Ajm1	A	G	2: 25,468,574 (GRCm39)	S446P	possibly damaging	Het
Ampd3	T	C	7: 110,399,904 (GRCm39)	F340L	probably damaging	Het
Atad3a	A	G	4: 155,831,927 (GRCm39)	V449A	probably damaging	Het
Bmal2	T	C	6: 146,724,751 (GRCm39)		probably benign	Het
Bpifa6	A	T	2: 153,834,192 (GRCm39)	D328V	probably benign	Het
Brca2	T	C	5: 150,483,658 (GRCm39)	S2903P	probably damaging	Het
Cct3	A	T	3: 88,206,652 (GRCm39)		probably null	Het
Cdk4	A	G	10: 126,900,863 (GRCm39)	T172A	probably damaging	Het
Chd5	A	G	4: 152,468,616 (GRCm39)	D1760G	probably damaging	Het
Chd7	A	G	4: 8,801,310 (GRCm39)		probably benign	Het
Crybb2	T	C	5: 113,210,037 (GRCm39)	I109V	probably benign	Het
Csmd3	A	G	15: 48,048,780 (GRCm39)		probably benign	Het
Dach1	G	T	14: 98,406,051 (GRCm39)	T232K	possibly damaging	Het
Dnlz	A	G	2: 26,241,485 (GRCm39)	V81A	possibly damaging	Het
Epb41l4b	A	G	4: 57,086,003 (GRCm39)	S191P	probably damaging	Het
Eps15l1	C	T	8: 73,099,929 (GRCm39)	D821N	probably damaging	Het
Fam186a	G	A	15: 99,839,893 (GRCm39)	P2117L	probably damaging	Het
Fam83d	T	A	2: 158,621,808 (GRCm39)	F173Y	probably damaging	Het
Gm9116	A	T	3: 93,817,772 (GRCm39)	R214S	probably benign	Het
Gtpbp1	A	G	15: 79,600,401 (GRCm39)	I445V	probably damaging	Het
H2-M2	G	A	17: 37,793,640 (GRCm39)	T122I	probably damaging	Het
Hgd	C	T	16: 37,448,971 (GRCm39)		probably benign	Het
Hip1r	A	G	5: 124,135,004 (GRCm39)	Y380C	probably benign	Het
Hspa8	G	A	9: 40,715,137 (GRCm39)	G389R	probably damaging	Het
Htt	C	A	5: 34,975,097 (GRCm39)	D622E	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kdm4a	A	G	4: 118,004,189 (GRCm39)		probably null	Het
Map3k9	G	A	12: 81,769,043 (GRCm39)	P1025S	probably benign	Het
Pabpc1l	C	A	2: 163,873,134 (GRCm39)	H135N	probably benign	Het
Pacsin2	A	T	15: 83,263,998 (GRCm39)	S346R	probably benign	Het
Pcdhb20	A	G	18: 37,638,938 (GRCm39)	Y488C	probably damaging	Het
Pkdcc	G	A	17: 83,531,347 (GRCm39)	C452Y	probably damaging	Het
Poglut1	T	C	16: 38,355,083 (GRCm39)		probably null	Het
Prss59	A	G	6: 40,905,533 (GRCm39)	M41T	probably damaging	Het
Pxk	T	C	14: 8,148,123 (GRCm38)	F409L	probably benign	Het
Pygm	G	A	19: 6,436,048 (GRCm39)		probably benign	Het
Rabep2	T	C	7: 126,037,896 (GRCm39)	S223P	probably damaging	Het
Rpp40	C	T	13: 36,086,034 (GRCm39)	R109H	probably benign	Het
Sbf2	T	C	7: 109,940,562 (GRCm39)	Y1266C	possibly damaging	Het
Slc5a4a	T	C	10: 76,012,368 (GRCm39)	V346A	probably benign	Het
Smpd3	G	T	8: 106,991,421 (GRCm39)	H377Q	possibly damaging	Het
Sppl2a	C	A	2: 126,762,227 (GRCm39)		probably benign	Het
Tas2r134	T	C	2: 51,518,385 (GRCm39)	I288T	probably benign	Het
Trim35	T	A	14: 66,546,650 (GRCm39)	H472Q	probably damaging	Het
Trpm5	C	A	7: 142,632,088 (GRCm39)	R907L	probably damaging	Het
Ube2e2	G	T	14: 18,630,393 (GRCm38)	S56*	probably null	Het
Vmn2r88	A	C	14: 51,651,959 (GRCm39)	R432S	possibly damaging	Het
Wdr24	A	G	17: 26,045,102 (GRCm39)	Y279C	probably damaging	Het
Wdr90	A	G	17: 26,079,104 (GRCm39)	V246A	probably benign	Het
Xrn2	T	A	2: 146,871,818 (GRCm39)	N385K	probably benign	Het
Zfp28	T	A	7: 6,387,182 (GRCm39)	S73T	possibly damaging	Het
Zfp345	T	C	2: 150,314,271 (GRCm39)	E422G	probably benign	Het
Zhx2	A	G	15: 57,684,709 (GRCm39)	E26G	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
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
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'- CACAACAACAGCAGTGGGGAATTTG -3'
(R):5'- GGGTTCATCATGGGAACCACAATGG -3'

Sequencing Primer
(F):5'- GGCTTTGATCACTTTAATTGCACTG -3'
(R):5'- CTACAGGTGCTAAATGCTTTGGAC -3'

Posted On

2013-10-16