Mutagenetix > Incidental Mutation

Incidental Mutation 'R7846:Or8b47'

606620

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

045900-MU

Accession Numbers

Essential gene?

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

Stock #

R7846 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38435026-38435965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38435675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 216 (T216A)

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: T216A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000074515
Gene: ENSMUSG00000062621
AA Change: T216A

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: T216A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

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

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	A	G	5: 100,954,698 (GRCm39)	V247A	probably damaging	Het
Acot13	G	T	13: 25,002,133 (GRCm39)	T103K	probably damaging	Het
Acsl6	A	T	11: 54,251,901 (GRCm39)	I683F	probably damaging	Het
Acss2	A	T	2: 155,402,953 (GRCm39)	H577L	probably damaging	Het
Ahctf1	A	T	1: 179,614,638 (GRCm39)	V382D	probably damaging	Het
Aldob	T	C	4: 49,538,858 (GRCm39)	H220R	probably damaging	Het
Ankrd1	C	T	19: 36,094,218 (GRCm39)	V169M	probably damaging	Het
Atp5f1a	G	A	18: 77,869,015 (GRCm39)	R413H	possibly damaging	Het
Cep76	A	G	18: 67,762,975 (GRCm39)	F283L	probably damaging	Het
Chrna5	A	T	9: 54,912,391 (GRCm39)	D397V	probably benign	Het
Coro7	T	C	16: 4,488,400 (GRCm39)	D90G	probably damaging	Het
Csnk1g3	A	G	18: 54,081,177 (GRCm39)	N383D	probably benign	Het
Cwf19l2	C	A	9: 3,477,889 (GRCm39)	Q865K	probably damaging	Het
Cyth2	C	A	7: 45,460,378 (GRCm39)	W149C	probably damaging	Het
Dgkh	C	A	14: 78,856,026 (GRCm39)	R349L	probably damaging	Het
Dnajc1	G	T	2: 18,224,704 (GRCm39)	T383N	possibly damaging	Het
Efcab3	T	A	11: 104,605,571 (GRCm39)		probably null	Het
Extl3	A	T	14: 65,313,181 (GRCm39)	M667K	probably damaging	Het
Fam149a	G	T	8: 45,811,678 (GRCm39)	A75E		Het
Fgd4	T	G	16: 16,240,590 (GRCm39)	Q713P	probably damaging	Het
Frat2	T	A	19: 41,836,215 (GRCm39)	I46F	probably damaging	Het
Gzmc	A	G	14: 56,469,017 (GRCm39)	V234A	probably damaging	Het
H2-Q4	A	G	17: 35,599,134 (GRCm39)	N135D	probably damaging	Het
Ighv1-85	A	T	12: 115,963,937 (GRCm39)	V21D	possibly damaging	Het
Itprid1	A	G	6: 55,955,320 (GRCm39)	Q976R	possibly damaging	Het
Kcna6	A	T	6: 126,715,983 (GRCm39)	V302E	probably damaging	Het
Kdm3b	G	T	18: 34,942,293 (GRCm39)	V795L	possibly damaging	Het
Kdm5b	G	A	1: 134,545,578 (GRCm39)	R913H	probably damaging	Het
Lpp	T	A	16: 24,426,876 (GRCm39)	M1K	probably null	Het
Med12l	T	C	3: 59,172,355 (GRCm39)	S1704P	probably damaging	Het
Mfsd10	G	T	5: 34,793,456 (GRCm39)	S95*	probably null	Het
Napepld	C	T	5: 21,880,721 (GRCm39)	E225K	probably benign	Het
Ndfip2	T	C	14: 105,535,448 (GRCm39)	F245L	probably damaging	Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Or10k2	A	G	8: 84,268,526 (GRCm39)	H251R	probably damaging	Het
Or13a20	C	T	7: 140,232,374 (GRCm39)	H161Y	probably damaging	Het
Or51i1	A	G	7: 103,670,736 (GRCm39)	I263T	possibly damaging	Het
Or52z15	A	G	7: 103,332,407 (GRCm39)	I161V	probably benign	Het
Or5p6	A	G	7: 107,631,199 (GRCm39)	I117T	probably benign	Het
Pcdhgb2	A	T	18: 37,825,273 (GRCm39)	I755F	possibly damaging	Het
Pde4dip	A	G	3: 97,622,490 (GRCm39)	L1573P	probably damaging	Het
Peg3	A	T	7: 6,713,650 (GRCm39)	V524E	probably damaging	Het
Phc1	G	T	6: 122,310,329 (GRCm39)	T126N	probably damaging	Het
Phf1	C	A	17: 27,154,291 (GRCm39)	Y169*	probably null	Het
Pramel25	A	T	4: 143,520,563 (GRCm39)	D269V	probably benign	Het
Prl3a1	G	A	13: 27,456,442 (GRCm39)	E99K	probably damaging	Het
Prss57	G	A	10: 79,623,213 (GRCm39)	A78V	probably damaging	Het
Ptprb	A	T	10: 116,119,453 (GRCm39)	T196S	probably benign	Het
Rgsl1	A	T	1: 153,701,783 (GRCm39)	C224S	possibly damaging	Het
Rtn4	T	C	11: 29,643,274 (GRCm39)	V29A	unknown	Het
Selplg	G	A	5: 113,957,481 (GRCm39)	T275M	probably damaging	Het
Skint11	C	T	4: 114,102,076 (GRCm39)	T363I	possibly damaging	Het
Slc22a29	T	A	19: 8,170,851 (GRCm39)	I289F	probably benign	Het
Slc26a2	A	G	18: 61,331,776 (GRCm39)	S552P	probably benign	Het
Sptb	T	A	12: 76,655,300 (GRCm39)	K1480*	probably null	Het
Sptbn1	C	A	11: 30,092,153 (GRCm39)	M537I	probably damaging	Het
Sqor	A	T	2: 122,627,008 (GRCm39)	H43L	probably benign	Het
Srcin1	C	A	11: 97,416,926 (GRCm39)	E913*	probably null	Het
Srgap1	A	G	10: 121,621,397 (GRCm39)	L1032P	probably damaging	Het
Stc2	T	C	11: 31,315,413 (GRCm39)	K142R	probably benign	Het
Stox1	A	C	10: 62,495,305 (GRCm39)	N989K	probably damaging	Het
Tert	T	A	13: 73,776,314 (GRCm39)	L355H	probably damaging	Het
Tfb2m	A	G	1: 179,358,926 (GRCm39)	F319S	probably damaging	Het
Trps1	A	G	15: 50,695,273 (GRCm39)	F341L	probably damaging	Het
Ttk	T	C	9: 83,725,732 (GRCm39)	V218A	probably benign	Het
Vmn1r159	A	G	7: 22,542,696 (GRCm39)	I112T	probably benign	Het
Vps8	C	A	16: 21,351,070 (GRCm39)	Q916K	probably benign	Het
Wdr12	A	T	1: 60,121,225 (GRCm39)	D364E	probably damaging	Het
Ylpm1	A	G	12: 85,104,042 (GRCm39)	E2019G	probably damaging	Het
Zfp267	C	A	3: 36,219,738 (GRCm39)	T587N	probably benign	Het
Zfp507	A	G	7: 35,493,963 (GRCm39)	L360P	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
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'- GCCATGATTCACACTGGATGC -3'
(R):5'- TTAAGGGGTTCATCATGGGAAC -3'

Sequencing Primer
(F):5'- CACTGGATGCATTCTGAGACTGAC -3'
(R):5'- GACAGAAGAGACTTTTCCCTGATC -3'

Posted On

2019-12-20