Mutagenetix > Incidental Mutation

Incidental Mutation 'R8243:Or8b56'

637655

Institutional Source

Beutler Lab

Gene Symbol

Or8b56

Ensembl Gene

ENSMUSG00000044798

Gene Name

olfactory receptor family 8 subfamily B member 56

Synonyms

Olfr923, MOR164-2, GA_x6K02T2PVTD-32530445-32531380

MMRRC Submission

067648-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R8243 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38738911-38739978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38739803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 272 (E272G)

Ref Sequence

ENSEMBL: ENSMUSP00000062073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051238]

AlphaFold

Q7TRB9

Predicted Effect

SMART Domains

Protein: ENSMUSP00000062073
Gene: ENSMUSG00000044798
AA Change: E272G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	1.2e-46	PFAM
Pfam:7tm_1	47	296	3.5e-23	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.7%
20x: 96.0%

Validation Efficiency

100% (47/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	A	11: 46,015,909 (GRCm39)	H356Q	probably damaging	Het
BC030500	T	C	8: 59,365,388 (GRCm39)	I13T	unknown	Het
Bcl6	C	T	16: 23,786,883 (GRCm39)	C636Y	probably damaging	Het
Cabyr	G	T	18: 12,883,759 (GRCm39)	C82F	probably benign	Het
Clec4a1	T	C	6: 122,901,778 (GRCm39)	V70A	possibly damaging	Het
Col11a1	C	T	3: 113,855,141 (GRCm39)	P134S	unknown	Het
Col27a1	A	G	4: 63,144,120 (GRCm39)	T603A	probably damaging	Het
Col6a6	T	C	9: 105,576,468 (GRCm39)	D1964G	probably damaging	Het
Dnajc8	A	G	4: 132,278,775 (GRCm39)		probably null	Het
E330034G19Rik	T	C	14: 24,358,360 (GRCm39)	Y318H		Het
Efemp1	T	A	11: 28,871,690 (GRCm39)	S402T	probably damaging	Het
Emcn	T	C	3: 137,097,411 (GRCm39)	V110A	possibly damaging	Het
Fgd5	C	T	6: 91,966,004 (GRCm39)	L746F	possibly damaging	Het
Gna13	A	G	11: 109,287,239 (GRCm39)	N354S	probably damaging	Het
Helq	G	T	5: 100,918,348 (GRCm39)	S855R	possibly damaging	Het
Hps5	G	T	7: 46,436,066 (GRCm39)	A160E	probably damaging	Het
Igfbp7	T	A	5: 77,549,339 (GRCm39)	E188V	probably benign	Het
Ivd	A	G	2: 118,702,018 (GRCm39)	Y150C	probably damaging	Het
Jade2	T	C	11: 51,708,045 (GRCm39)	T723A	probably benign	Het
Kif1b	T	C	4: 149,288,724 (GRCm39)	N1239S	probably benign	Het
Klb	A	G	5: 65,536,338 (GRCm39)	N556S	possibly damaging	Het
Klhdc8a	C	T	1: 132,230,304 (GRCm39)	R140C	possibly damaging	Het
Klhl2	T	A	8: 65,202,084 (GRCm39)	M531L	probably benign	Het
Mark3	T	A	12: 111,613,956 (GRCm39)	S546R	possibly damaging	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Musk	G	A	4: 58,293,600 (GRCm39)	R63K	probably benign	Het
Nacad	C	T	11: 6,552,643 (GRCm39)	E183K	probably damaging	Het
Oasl1	T	C	5: 115,066,220 (GRCm39)	Y113H	probably benign	Het
Or10g9b	A	T	9: 39,917,484 (GRCm39)	C254S	probably benign	Het
Or1x2	C	T	11: 50,918,138 (GRCm39)	T103M	probably benign	Het
Or4c111	T	A	2: 88,844,051 (GRCm39)	Y119F	probably benign	Het
Or51ab3	A	T	7: 103,201,205 (GRCm39)	D71V	probably damaging	Het
P4hb	T	C	11: 120,454,206 (GRCm39)	D296G	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekhh1	G	A	12: 79,125,843 (GRCm39)	R1293H	probably benign	Het
Prss21	A	G	17: 24,088,376 (GRCm39)	T114A	probably damaging	Het
Ptprn	T	C	1: 75,229,179 (GRCm39)	D776G	probably damaging	Het
Rffl	A	G	11: 82,703,621 (GRCm39)	C101R	probably damaging	Het
Rundc1	A	G	11: 101,316,384 (GRCm39)	D152G	probably benign	Het
Sema6c	A	G	3: 95,079,916 (GRCm39)	T737A	probably damaging	Het
Sppl2c	A	G	11: 104,078,687 (GRCm39)	T496A	probably damaging	Het
Supt7l	T	C	5: 31,673,013 (GRCm39)	I412V	probably benign	Het
Trim38	T	A	13: 23,975,378 (GRCm39)	I439N	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Usp18	G	A	6: 121,246,103 (GRCm39)	R353H	probably benign	Het
Usp42	T	C	5: 143,700,849 (GRCm39)	K1058R	probably benign	Het
Utp25	T	C	1: 192,796,937 (GRCm39)	D598G	probably benign	Het

Other mutations in Or8b56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01485:Or8b56	APN	9	38,739,895 (GRCm39)	missense	possibly damaging	0.93
IGL01521:Or8b56	APN	9	38,739,185 (GRCm39)	missense	probably damaging	1.00
IGL01548:Or8b56	APN	9	38,739,646 (GRCm39)	missense	probably benign	0.00
IGL02240:Or8b56	APN	9	38,739,602 (GRCm39)	missense	probably benign	0.12
IGL02794:Or8b56	APN	9	38,739,511 (GRCm39)	missense	probably damaging	1.00
R0116:Or8b56	UTSW	9	38,739,860 (GRCm39)	missense	probably damaging	0.99
R0118:Or8b56	UTSW	9	38,739,154 (GRCm39)	missense	possibly damaging	0.62
R0189:Or8b56	UTSW	9	38,739,111 (GRCm39)	nonsense	probably null
R1381:Or8b56	UTSW	9	38,739,634 (GRCm39)	missense	probably benign	0.04
R1512:Or8b56	UTSW	9	38,739,660 (GRCm39)	nonsense	probably null
R1702:Or8b56	UTSW	9	38,739,839 (GRCm39)	missense	probably damaging	1.00
R2357:Or8b56	UTSW	9	38,739,634 (GRCm39)	missense	probably benign	0.00
R2863:Or8b56	UTSW	9	38,739,835 (GRCm39)	missense	possibly damaging	0.89
R2985:Or8b56	UTSW	9	38,739,406 (GRCm39)	missense	probably benign	0.05
R5475:Or8b56	UTSW	9	38,739,762 (GRCm39)	missense	possibly damaging	0.81
R5682:Or8b56	UTSW	9	38,739,424 (GRCm39)	missense	probably benign	0.00
R8743:Or8b56	UTSW	9	38,738,995 (GRCm39)	missense	probably benign	0.08
R9182:Or8b56	UTSW	9	38,739,172 (GRCm39)	missense	probably damaging	1.00
R9563:Or8b56	UTSW	9	38,739,014 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCATGAACATTGTGGTGTCTAC -3'
(R):5'- GTTGTGAATAAAGCAAATCTGGCTC -3'

Sequencing Primer
(F):5'- GGTGTCTACCAGTACCACTTTTATC -3'
(R):5'- GCAAATCTGGCTCTAAATTAATGGAG -3'

Posted On

2020-07-13