Mutagenetix > Incidental Mutation

Incidental Mutation 'R9607:Or8b1c'

723947

Institutional Source

Beutler Lab

Gene Symbol

Or8b1c

Ensembl Gene

ENSMUSG00000096794

Gene Name

olfactory receptor family 8 subfamily B member 1C

Synonyms

GA_x6K02T2PVTD-32165709-32166641, Olfr905, MOR167-1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R9607 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38384045-38384977 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38384913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 290 (Y290C)

Ref Sequence

ENSEMBL: ENSMUSP00000150357 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051111] [ENSMUST00000214377] [ENSMUST00000216724]

AlphaFold

L7N1X5

Predicted Effect

probably damaging
Transcript: ENSMUST00000051111
AA Change: Y290C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057998
Gene: ENSMUSG00000096794
AA Change: Y290C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.9e-50	PFAM
Pfam:7tm_1	41	298	4e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214377
AA Change: Y290C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000216724

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,914,068 (GRCm39)		probably null	Het
Atp8a1	T	C	5: 67,817,250 (GRCm39)	Y927C		Het
Bckdhb	A	G	9: 83,871,344 (GRCm39)	I208V	probably benign	Het
Cacna1g	T	C	11: 94,356,714 (GRCm39)	I141V	probably benign	Het
Celsr1	A	G	15: 85,915,229 (GRCm39)	S915P		Het
Celsr3	G	A	9: 108,717,701 (GRCm39)		probably null	Het
Cep295	A	T	9: 15,234,009 (GRCm39)	D2262E	probably damaging	Het
Chil3	T	C	3: 106,067,685 (GRCm39)	K160R	probably null	Het
Cmtr1	G	T	17: 29,893,196 (GRCm39)	A72S	probably benign	Het
Cpa5	T	C	6: 30,626,338 (GRCm39)	F233S	probably damaging	Het
Creb3l3	G	A	10: 80,920,735 (GRCm39)	R432W	probably damaging	Het
Csdc2	A	G	15: 81,831,088 (GRCm39)	D45G	possibly damaging	Het
Csmd3	G	T	15: 47,618,811 (GRCm39)	T1859K	probably damaging	Het
Cxxc1	T	C	18: 74,353,479 (GRCm39)		probably null	Het
Dcc	A	G	18: 71,721,072 (GRCm39)	S430P	probably damaging	Het
Dera	T	G	6: 137,833,732 (GRCm39)	S270A	unknown	Het
Dnaaf1	A	G	8: 120,309,350 (GRCm39)	E146G	possibly damaging	Het
Dsg4	A	T	18: 20,586,047 (GRCm39)	T246S	probably benign	Het
Eif4g3	A	G	4: 137,893,045 (GRCm39)	E766G	probably benign	Het
Ep400	A	C	5: 110,831,805 (GRCm39)	C2146G	unknown	Het
Epas1	A	T	17: 87,134,038 (GRCm39)	T516S	probably benign	Het
Espn	A	G	4: 152,219,939 (GRCm39)	S395P	probably benign	Het
Fam124b	T	A	1: 80,190,813 (GRCm39)	Q190L	probably damaging	Het
Filip1	T	A	9: 79,726,402 (GRCm39)	D739V	probably damaging	Het
Flg2	A	G	3: 93,108,719 (GRCm39)	Y249C	probably damaging	Het
Gon4l	T	A	3: 88,765,751 (GRCm39)	S391T	probably damaging	Het
Hoxa5	G	T	6: 52,181,196 (GRCm39)	Y45*	probably null	Het
Ift172	A	G	5: 31,410,913 (GRCm39)	F1715S		Het
Klhdc9	T	A	1: 171,187,124 (GRCm39)	H262L	probably damaging	Het
Krt16	C	A	11: 100,138,453 (GRCm39)	D232Y	probably damaging	Het
Lrrd1	A	G	5: 3,901,561 (GRCm39)	E622G	probably damaging	Het
Mars1	A	T	10: 127,144,493 (GRCm39)	C182*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Msrb2	C	A	2: 19,399,130 (GRCm39)	N164K	probably damaging	Het
Mtcl2	T	G	2: 156,869,488 (GRCm39)	E1049A	probably damaging	Het
Muc2	T	A	7: 141,305,190 (GRCm39)	C604S		Het
Mup17	T	C	4: 61,511,903 (GRCm39)	I124V	probably benign	Het
Myo18b	T	C	5: 113,022,544 (GRCm39)	M283V	unknown	Het
Ndn	C	T	7: 61,998,337 (GRCm39)	P61L	possibly damaging	Het
Nepro	T	C	16: 44,551,832 (GRCm39)	L230P	probably damaging	Het
Nes	A	G	3: 87,883,513 (GRCm39)	N591D	probably benign	Het
Nfrkb	T	C	9: 31,326,066 (GRCm39)	S1170P	possibly damaging	Het
Nphs1	A	T	7: 30,163,012 (GRCm39)	T430S	probably damaging	Het
Nrp1	T	C	8: 129,152,262 (GRCm39)	V157A	probably benign	Het
Nup188	T	A	2: 30,197,724 (GRCm39)	D259E	probably benign	Het
Or52n5	T	C	7: 104,588,207 (GRCm39)	M158T	probably benign	Het
Or5b109	A	T	19: 13,211,953 (GRCm39)	N113I		Het
Or9s18	G	T	13: 65,300,885 (GRCm39)	M282I	probably benign	Het
Pcdha8	T	A	18: 37,126,217 (GRCm39)	L233Q	probably damaging	Het
Pcdhga12	T	A	18: 37,901,389 (GRCm39)	F740L	probably damaging	Het
Pglyrp4	G	A	3: 90,638,151 (GRCm39)	G155D	probably damaging	Het
Piezo2	G	A	18: 63,519,347 (GRCm39)		probably benign	Het
Pirb	G	A	7: 3,720,617 (GRCm39)	R294C	possibly damaging	Het
Ppil1	A	T	17: 29,470,481 (GRCm39)	*167K	probably null	Het
Prdm10	G	T	9: 31,260,486 (GRCm39)	D647Y	probably damaging	Het
Prkn	A	G	17: 12,222,963 (GRCm39)	Y371C	probably damaging	Het
Prrc2b	T	A	2: 32,098,794 (GRCm39)	I702N	probably damaging	Het
Rnf26rt	A	T	6: 76,473,923 (GRCm39)	L231*	probably null	Het
Rtp4	T	A	16: 23,339,226 (GRCm39)		probably null	Het
Sema6c	A	G	3: 95,076,545 (GRCm39)	H277R	probably benign	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc41a2	A	G	10: 83,119,631 (GRCm39)	L377P	probably damaging	Het
Svil	T	C	18: 5,058,126 (GRCm39)	Y630H	possibly damaging	Het
Tbata	A	G	10: 61,011,626 (GRCm39)	H54R	probably benign	Het
Tnfaip2	C	A	12: 111,412,069 (GRCm39)	Q157K	possibly damaging	Het
Trappc14	T	C	5: 138,259,862 (GRCm39)	D398G	probably damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Vmn2r74	T	A	7: 85,610,619 (GRCm39)	R24S	probably benign	Het
Vmn2r90	G	A	17: 17,953,638 (GRCm39)	V601M	possibly damaging	Het
Vmn2r-ps117	A	G	17: 19,043,940 (GRCm39)	T339A	probably benign	Het
Xirp2	C	T	2: 67,341,106 (GRCm39)	H1116Y	possibly damaging	Het
Xrcc1	A	G	7: 24,265,690 (GRCm39)	D156G	probably benign	Het

Other mutations in Or8b1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Or8b1c	APN	9	38,384,338 (GRCm39)	missense	possibly damaging	0.52
IGL03168:Or8b1c	APN	9	38,384,315 (GRCm39)	missense	probably benign
R0003:Or8b1c	UTSW	9	38,384,612 (GRCm39)	missense	probably benign	0.24
R0062:Or8b1c	UTSW	9	38,384,554 (GRCm39)	missense	probably benign	0.03
R0625:Or8b1c	UTSW	9	38,384,504 (GRCm39)	missense	possibly damaging	0.90
R0744:Or8b1c	UTSW	9	38,384,081 (GRCm39)	missense	probably benign	0.04
R0836:Or8b1c	UTSW	9	38,384,081 (GRCm39)	missense	probably benign	0.04
R2085:Or8b1c	UTSW	9	38,384,223 (GRCm39)	missense	probably damaging	1.00
R2898:Or8b1c	UTSW	9	38,384,271 (GRCm39)	missense	probably damaging	0.99
R4462:Or8b1c	UTSW	9	38,384,360 (GRCm39)	missense	probably benign	0.32
R4655:Or8b1c	UTSW	9	38,384,120 (GRCm39)	missense	probably damaging	0.99
R5209:Or8b1c	UTSW	9	38,384,817 (GRCm39)	missense	possibly damaging	0.52
R5759:Or8b1c	UTSW	9	38,384,831 (GRCm39)	missense	possibly damaging	0.73
R6453:Or8b1c	UTSW	9	38,384,871 (GRCm39)	missense	probably benign	0.18
R6501:Or8b1c	UTSW	9	38,384,585 (GRCm39)	missense	possibly damaging	0.88
R6934:Or8b1c	UTSW	9	38,384,472 (GRCm39)	missense	probably benign
R6999:Or8b1c	UTSW	9	38,384,535 (GRCm39)	missense	probably damaging	1.00
R7295:Or8b1c	UTSW	9	38,384,739 (GRCm39)	missense	probably benign	0.07
R7677:Or8b1c	UTSW	9	38,384,831 (GRCm39)	missense	possibly damaging	0.73
R7708:Or8b1c	UTSW	9	38,384,681 (GRCm39)	missense	probably damaging	1.00
R7843:Or8b1c	UTSW	9	38,384,243 (GRCm39)	missense	probably damaging	0.99
R8947:Or8b1c	UTSW	9	38,384,685 (GRCm39)	missense	probably damaging	1.00
R8998:Or8b1c	UTSW	9	38,384,787 (GRCm39)	missense	probably benign	0.08
R9215:Or8b1c	UTSW	9	38,384,694 (GRCm39)	missense	probably damaging	1.00
X0053:Or8b1c	UTSW	9	38,384,472 (GRCm39)	missense	probably benign
X0065:Or8b1c	UTSW	9	38,384,302 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TATCAGCTCCAAGGAGGACAGG -3'
(R):5'- CTAATATTGGTTTCAGACGGGTAAG -3'

Sequencing Primer
(F):5'- GACAGGTCCAAAGCCTTCAG -3'
(R):5'- CAGACGGGTAAGTAGTTGTTATTTC -3'

Posted On

2022-09-12