Mutagenetix > Incidental Mutation

Incidental Mutation 'R2264:Or8b1'

243998

Institutional Source

Beutler Lab

Gene Symbol

Or8b1

Ensembl Gene

ENSMUSG00000039962

Gene Name

olfactory receptor family 8 subfamily B member 1

Synonyms

Olfr906, GA_x6K02T2PVTD-32194085-32195020, MOR167-2

MMRRC Submission

040264-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R2264 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38399327-38400262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 38399351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 9 (V9L)

Ref Sequence

ENSEMBL: ENSMUSP00000151008 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045493] [ENSMUST00000214344]

AlphaFold

K7N5P3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045493
AA Change: V9L

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039040
Gene: ENSMUSG00000039962
AA Change: V9L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	3.6e-50	PFAM
Pfam:7tm_1	41	290	2.1e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214344
AA Change: V9L

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

94% (65/69)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,901,100 (GRCm39)	S1042P	probably damaging	Het
Armc1	C	T	3: 19,189,033 (GRCm39)	V211I	probably damaging	Het
B4galnt3	T	C	6: 120,180,771 (GRCm39)	*986W	probably null	Het
BC024139	T	A	15: 76,010,117 (GRCm39)	D105V	probably damaging	Het
BC049715	C	T	6: 136,817,434 (GRCm39)	Q225*	probably null	Het
Cadps2	T	C	6: 23,323,339 (GRCm39)	H1043R	probably benign	Het
Ccdc42	T	C	11: 68,478,477 (GRCm39)	V33A	probably benign	Het
Cldn1	A	G	16: 26,177,949 (GRCm39)	Y159H	probably damaging	Het
Cog6	A	T	3: 52,900,332 (GRCm39)	C476*	probably null	Het
Col14a1	T	G	15: 55,330,086 (GRCm39)		probably null	Het
Crisp1	C	T	17: 40,623,965 (GRCm39)	M1I	probably null	Het
Dip2b	T	A	15: 100,101,097 (GRCm39)	S1297T	probably benign	Het
Dlgap4	A	G	2: 156,543,383 (GRCm39)	E262G	probably benign	Het
Dnai7	A	G	6: 145,154,155 (GRCm39)		probably benign	Het
Dpp4	A	C	2: 62,208,583 (GRCm39)	V187G	possibly damaging	Het
F5	A	G	1: 164,021,971 (GRCm39)	D1482G	probably benign	Het
Fads6	T	A	11: 115,177,061 (GRCm39)	T132S	probably damaging	Het
Fat4	A	G	3: 38,944,571 (GRCm39)	I1155V	probably benign	Het
Fermt1	C	T	2: 132,757,110 (GRCm39)		probably null	Het
Fstl1	C	T	16: 37,597,653 (GRCm39)		probably benign	Het
Get3	G	A	8: 85,751,887 (GRCm39)		probably benign	Het
Gm5089	T	C	14: 122,673,514 (GRCm39)	Y69C	unknown	Het
Gm9871	T	C	6: 101,773,201 (GRCm39)		noncoding transcript	Het
Gpr89	A	G	3: 96,779,831 (GRCm39)	S375P	probably damaging	Het
Gtf2h4	A	G	17: 35,979,556 (GRCm39)		probably benign	Het
Gtsf1	T	A	15: 103,328,391 (GRCm39)	N148I	possibly damaging	Het
Hexa	T	C	9: 59,462,660 (GRCm39)	S129P	probably damaging	Het
Iigp1	A	T	18: 60,523,738 (GRCm39)	E285D	probably benign	Het
Il23r	T	A	6: 67,403,651 (GRCm39)		probably null	Het
Iqch	T	C	9: 63,419,581 (GRCm39)	K463R	probably benign	Het
Kcnd1	A	G	X: 7,690,323 (GRCm39)		probably null	Het
Kif26b	A	T	1: 178,756,407 (GRCm39)		probably null	Het
Loxl1	A	G	9: 58,204,961 (GRCm39)	V418A	probably damaging	Het
Lrp2	T	C	2: 69,312,710 (GRCm39)	D2526G	possibly damaging	Het
Map4	G	T	9: 109,910,525 (GRCm39)	G851C	probably damaging	Het
Mtmr11	A	T	3: 96,076,413 (GRCm39)	E456V	possibly damaging	Het
Muc13	G	A	16: 33,628,409 (GRCm39)		probably null	Het
Myo18a	C	A	11: 77,710,798 (GRCm39)		probably benign	Het
Nphp4	T	A	4: 152,587,465 (GRCm39)		probably benign	Het
Nrg3	T	C	14: 38,103,659 (GRCm39)	E445G	probably damaging	Het
Ntrk1	A	G	3: 87,686,941 (GRCm39)		probably null	Het
Parp6	T	C	9: 59,531,288 (GRCm39)	S57P	probably damaging	Het
Pcdhb12	A	G	18: 37,569,858 (GRCm39)	N335D	probably damaging	Het
Pdzph1	T	C	17: 59,195,162 (GRCm39)		probably null	Het
Pea15a	C	T	1: 172,026,704 (GRCm39)	R79H	probably benign	Het
Pik3ca	A	C	3: 32,492,076 (GRCm39)	I225L	possibly damaging	Het
Pim3	T	A	15: 88,748,793 (GRCm39)	I270N	probably damaging	Het
Pkd1l1	T	A	11: 8,829,112 (GRCm39)	R1043S	probably damaging	Het
Plekhg6	A	G	6: 125,354,431 (GRCm39)	S70P	probably benign	Het
Ptpn13	T	A	5: 103,637,527 (GRCm39)	D138E	possibly damaging	Het
Rap1gap	T	C	4: 137,455,034 (GRCm39)	L354P	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Sf3a1	T	A	11: 4,127,443 (GRCm39)	S590T	probably benign	Het
Slc14a2	T	C	18: 78,206,304 (GRCm39)		probably benign	Het
Slfn3	T	G	11: 83,103,798 (GRCm39)	I223S	probably benign	Het
Smarca1	C	T	X: 46,964,160 (GRCm39)	V331I	probably benign	Het
Soat1	A	G	1: 156,265,267 (GRCm39)		probably benign	Het
Tinagl1	A	G	4: 130,061,226 (GRCm39)	V308A	probably benign	Het
Tomm22	T	A	15: 79,555,488 (GRCm39)	Y78N	probably damaging	Het
Ttll1	T	C	15: 83,380,609 (GRCm39)	Y252C	probably damaging	Het
Ttn	C	T	2: 76,623,474 (GRCm39)	V15368I	probably benign	Het
Ubr4	T	C	4: 139,147,684 (GRCm39)		probably benign	Het
Wbp2	T	C	11: 115,970,424 (GRCm39)		probably null	Het
Xkr7	A	T	2: 152,896,177 (GRCm39)	I344F	probably damaging	Het
Zfp947	A	T	17: 22,364,919 (GRCm39)	C252S	probably benign	Het

Other mutations in Or8b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03127:Or8b1	APN	9	38,399,882 (GRCm39)	missense	probably benign	0.13
R0948:Or8b1	UTSW	9	38,400,244 (GRCm39)	missense	probably benign	0.00
R1236:Or8b1	UTSW	9	38,399,525 (GRCm39)	missense	probably damaging	1.00
R1246:Or8b1	UTSW	9	38,400,086 (GRCm39)	missense	probably damaging	1.00
R1442:Or8b1	UTSW	9	38,399,939 (GRCm39)	missense	probably benign	0.10
R2016:Or8b1	UTSW	9	38,399,309 (GRCm39)	critical splice acceptor site	probably null
R2268:Or8b1	UTSW	9	38,399,504 (GRCm39)	missense	probably damaging	1.00
R3853:Or8b1	UTSW	9	38,400,247 (GRCm39)	missense	probably benign	0.18
R4066:Or8b1	UTSW	9	38,399,778 (GRCm39)	missense	probably benign	0.17
R4594:Or8b1	UTSW	9	38,400,057 (GRCm39)	missense	probably damaging	0.98
R5192:Or8b1	UTSW	9	38,400,101 (GRCm39)	missense	possibly damaging	0.69
R5436:Or8b1	UTSW	9	38,399,835 (GRCm39)	missense	probably benign	0.31
R5598:Or8b1	UTSW	9	38,399,821 (GRCm39)	missense	possibly damaging	0.77
R5694:Or8b1	UTSW	9	38,399,532 (GRCm39)	missense	probably damaging	1.00
R5914:Or8b1	UTSW	9	38,399,657 (GRCm39)	missense	probably damaging	1.00
R5959:Or8b1	UTSW	9	38,400,207 (GRCm39)	missense	probably damaging	1.00
R6318:Or8b1	UTSW	9	38,399,673 (GRCm39)	missense	probably benign
R6870:Or8b1	UTSW	9	38,399,382 (GRCm39)	missense	probably benign	0.19
R7482:Or8b1	UTSW	9	38,399,747 (GRCm39)	missense	probably damaging	0.99
R7571:Or8b1	UTSW	9	38,399,952 (GRCm39)	missense	probably benign	0.08
R7917:Or8b1	UTSW	9	38,399,905 (GRCm39)	nonsense	probably null
R8837:Or8b1	UTSW	9	38,399,597 (GRCm39)	missense	probably benign	0.05
R9562:Or8b1	UTSW	9	38,400,092 (GRCm39)	missense	possibly damaging	0.45
R9628:Or8b1	UTSW	9	38,399,871 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CCACTCATGGTCATGATAATGGC -3'
(R):5'- AGCATTTTGGGTGTAAACACTG -3'

Sequencing Primer
(F):5'- CTCATGGTCATGATAATGGCAAATTC -3'
(R):5'- CACTGAAGAGTAACAGAGGTCTATC -3'

Posted On

2014-10-16