Mutagenetix > Incidental Mutation

Incidental Mutation 'R3522:Or8b47'

267552

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

Accession Numbers

Essential gene?

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

Stock #

R3522 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38435026-38435965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38435081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 18 (T18A)

Ref Sequence

ENSEMBL: ENSMUSP00000150446 (fasta)

Gene Model

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

AlphaFold

A0A140T8K0

Predicted Effect

probably damaging
Transcript: ENSMUST00000074987
AA Change: T18A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000074515
Gene: ENSMUSG00000062621
AA Change: T18A

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 damaging
Transcript: ENSMUST00000216496
AA Change: T18A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (72/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	G	3: 96,592,378 (GRCm39)	E888G	probably damaging	Het
Arhgef10	T	C	8: 15,004,918 (GRCm39)	F150S	probably damaging	Het
Atp10d	G	T	5: 72,396,500 (GRCm39)	R235L	probably benign	Het
Cacna1b	A	G	2: 24,653,055 (GRCm39)	V2A	possibly damaging	Het
Cand1	A	T	10: 119,075,102 (GRCm39)	L15Q	probably benign	Het
Cavin3	C	A	7: 105,130,350 (GRCm39)	G154V	probably benign	Het
Ccdc73	A	T	2: 104,821,830 (GRCm39)	D593V	probably damaging	Het
Cdk5rap2	T	C	4: 70,168,647 (GRCm39)	K161E	probably damaging	Het
Chil4	A	T	3: 106,111,056 (GRCm39)	N279K	probably benign	Het
Chst13	T	G	6: 90,295,245 (GRCm39)	D56A	probably damaging	Het
Cnn1	C	A	9: 22,010,664 (GRCm39)	H5N	probably benign	Het
Cpsf4l	T	A	11: 113,593,319 (GRCm39)	K88N	probably damaging	Het
Ctnnbl1	G	T	2: 157,713,113 (GRCm39)		probably null	Het
Dnah7a	A	C	1: 53,657,275 (GRCm39)	F834V	probably damaging	Het
Fbxo41	A	G	6: 85,461,163 (GRCm39)	S182P	probably benign	Het
Fkbp5	T	C	17: 28,634,970 (GRCm39)	T180A	probably benign	Het
Flg2	T	A	3: 93,127,334 (GRCm39)	I2082N	unknown	Het
Gm4968	A	G	6: 127,210,725 (GRCm39)		noncoding transcript	Het
Gpc5	T	A	14: 116,761,747 (GRCm39)	H612Q	probably benign	Het
Gsg1	A	T	6: 135,218,251 (GRCm39)	V212D	probably damaging	Het
Hipk1	A	G	3: 103,651,430 (GRCm39)	V1111A	probably damaging	Het
Hormad1	A	T	3: 95,483,596 (GRCm39)	Q136L	probably benign	Het
Ifi35	T	A	11: 101,348,511 (GRCm39)	S147R	probably benign	Het
Iqca1l	A	G	5: 24,754,624 (GRCm39)		probably null	Het
Iqgap3	C	T	3: 87,998,089 (GRCm39)	A282V	probably null	Het
Jmy	T	C	13: 93,590,558 (GRCm39)	D515G	probably damaging	Het
Kctd10	G	A	5: 114,512,984 (GRCm39)	R64C	probably damaging	Het
Kidins220	T	C	12: 25,040,757 (GRCm39)	V121A	probably damaging	Het
Lcn3	G	A	2: 25,656,133 (GRCm39)	V63M	possibly damaging	Het
Lmx1b	T	A	2: 33,529,543 (GRCm39)	Y72F	probably benign	Het
Lrp1	T	C	10: 127,389,424 (GRCm39)	D3164G	probably damaging	Het
Mdh1b	C	T	1: 63,758,927 (GRCm39)	V222M	probably damaging	Het
Mst1	T	C	9: 107,958,702 (GRCm39)		probably benign	Het
Myo7b	C	A	18: 32,143,132 (GRCm39)	V189F	probably damaging	Het
Ndc1	T	C	4: 107,250,355 (GRCm39)	S533P	probably damaging	Het
Ndrg3	T	C	2: 156,785,947 (GRCm39)	D164G	probably damaging	Het
Nol11	C	T	11: 107,064,454 (GRCm39)	C500Y	possibly damaging	Het
Nsd3	A	G	8: 26,196,642 (GRCm39)	N1208D	probably benign	Het
Nup155	C	T	15: 8,186,162 (GRCm39)		probably benign	Het
Or5ak20	A	T	2: 85,183,347 (GRCm39)	C308S	probably benign	Het
Or6c38	A	G	10: 128,929,711 (GRCm39)	I44T	possibly damaging	Het
Or8b54	A	T	9: 38,687,016 (GRCm39)	D155V	possibly damaging	Het
Phf3	A	G	1: 30,844,684 (GRCm39)	L1425P	probably damaging	Het
Pla2r1	A	G	2: 60,279,250 (GRCm39)	Y777H	probably damaging	Het
Pld1	A	G	3: 28,085,396 (GRCm39)	E184G	probably damaging	Het
Plxna1	T	C	6: 89,314,335 (GRCm39)		probably null	Het
Ptgfrn	T	C	3: 100,950,718 (GRCm39)	E865G	probably damaging	Het
Ptpn13	G	T	5: 103,737,720 (GRCm39)		probably benign	Het
Pygb	G	T	2: 150,670,473 (GRCm39)	V763F	probably benign	Het
Ros1	A	C	10: 51,967,091 (GRCm39)	Y1705*	probably null	Het
Sec61a2	A	G	2: 5,898,027 (GRCm39)	F5L	probably benign	Het
Skint5	A	G	4: 113,614,102 (GRCm39)		probably null	Het
Sntg2	A	G	12: 30,362,566 (GRCm39)	V60A	probably damaging	Het
Sppl2a	A	G	2: 126,762,242 (GRCm39)	C280R	possibly damaging	Het
Srrm4	A	C	5: 116,584,603 (GRCm39)	M1R	probably null	Het
Sult1c2	T	C	17: 54,279,043 (GRCm39)	E91G	probably damaging	Het
Themis2	C	G	4: 132,512,906 (GRCm39)	R440P	probably damaging	Het
Tmem229a	A	G	6: 24,955,058 (GRCm39)	L232P	probably benign	Het
Trappc1	T	C	11: 69,215,248 (GRCm39)	F43L	probably damaging	Het
Trappc11	A	T	8: 47,951,708 (GRCm39)	Y982N	possibly damaging	Het
Trpv6	A	T	6: 41,604,339 (GRCm39)	M139K	probably damaging	Het
Txnrd3	A	G	6: 89,640,057 (GRCm39)		probably null	Het
Vmn1r184	T	A	7: 25,967,008 (GRCm39)	Y251*	probably null	Het
Vmn1r216	A	G	13: 23,283,544 (GRCm39)	N76D	possibly damaging	Het
Vmn1r71	C	A	7: 10,481,792 (GRCm39)	V233F	probably benign	Het
Vps13a	A	C	19: 16,743,857 (GRCm39)		probably benign	Het
Vwa5b2	A	G	16: 20,420,358 (GRCm39)	S756G	probably damaging	Het
Wdr36	T	A	18: 32,994,538 (GRCm39)		probably null	Het
Wdr86	A	G	5: 24,923,305 (GRCm39)	V129A	probably benign	Het
Zfyve9	A	G	4: 108,576,940 (GRCm39)	L47S	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
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'- CCTGAATGGTAATTTCTGCTCACTC -3'
(R):5'- AAGTTCATCAGCATTTTGGGTG -3'

Sequencing Primer
(F):5'- TGCTCACTCAGATATTCTCATAGG -3'
(R):5'- CATCAGCATTTTGGGTGTAATTACAG -3'

Posted On

2015-02-18