Mutagenetix > Incidental Mutation

Incidental Mutation 'R4594:Or8b1'

344262

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

041810-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R4594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38399327-38400262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 38400057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 244 (H244P)

Ref Sequence

ENSEMBL: ENSMUSP00000151008 (fasta)

Gene Model

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

AlphaFold

K7N5P3

Predicted Effect

probably damaging
Transcript: ENSMUST00000045493
AA Change: H244P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039040
Gene: ENSMUSG00000039962
AA Change: H244P

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

probably damaging
Transcript: ENSMUST00000214344
AA Change: H244P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (66/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,625,754 (GRCm39)	T64A	probably damaging	Het
4933427I04Rik	A	T	4: 123,754,331 (GRCm39)	T82S	possibly damaging	Het
Adamts15	A	T	9: 30,832,743 (GRCm39)	I264N	probably damaging	Het
Alpk1	G	A	3: 127,477,203 (GRCm39)	A285V	probably damaging	Het
Auh	T	C	13: 53,067,002 (GRCm39)		probably benign	Het
Cacna2d3	A	G	14: 28,704,303 (GRCm39)	F826S	probably benign	Het
Ccdc54	G	T	16: 50,410,380 (GRCm39)	Y295*	probably null	Het
Ctnna3	G	A	10: 64,421,858 (GRCm39)	V551I	probably benign	Het
Diaph3	C	T	14: 87,223,473 (GRCm39)	C347Y	probably damaging	Het
Dnajb5	A	G	4: 42,950,842 (GRCm39)		probably benign	Het
Dscam	A	T	16: 96,519,196 (GRCm39)	I847K	possibly damaging	Het
Fam8a1	T	C	13: 46,824,742 (GRCm39)	F243S	probably damaging	Het
Fat2	T	C	11: 55,175,578 (GRCm39)	I1712V	possibly damaging	Het
Fgfr1	T	C	8: 26,063,852 (GRCm39)	V793A	probably damaging	Het
Got2	T	C	8: 96,598,814 (GRCm39)	E196G	probably benign	Het
Gsk3b	G	A	16: 37,991,063 (GRCm39)	C107Y	possibly damaging	Het
H2-M5	T	C	17: 37,298,697 (GRCm39)	T250A	possibly damaging	Het
Il17f	T	A	1: 20,848,026 (GRCm39)	T151S	probably damaging	Het
Ints12	A	G	3: 132,814,629 (GRCm39)	N279D	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kynu	T	A	2: 43,569,902 (GRCm39)	S395T	probably benign	Het
Llgl1	C	T	11: 60,597,147 (GRCm39)	T226I	probably benign	Het
Mael	T	A	1: 166,063,056 (GRCm39)	Q132L	probably damaging	Het
Mcpt1	A	T	14: 56,256,109 (GRCm39)	R49S	probably benign	Het
Meioc	G	T	11: 102,564,992 (GRCm39)	G203C	probably damaging	Het
Mfsd4b1	A	G	10: 39,883,313 (GRCm39)	S46P	probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Mx2	C	A	16: 97,348,632 (GRCm39)	Y268*	probably null	Het
Myom1	A	G	17: 71,407,069 (GRCm39)	D1064G	possibly damaging	Het
Nek11	A	G	9: 105,270,046 (GRCm39)		probably null	Het
Nfe2	A	G	15: 103,157,232 (GRCm39)	L253S	probably damaging	Het
Nup205	T	C	6: 35,173,424 (GRCm39)	I478T	probably benign	Het
Nxpe2	T	C	9: 48,230,782 (GRCm39)	D529G	probably damaging	Het
Oard1	T	C	17: 48,722,267 (GRCm39)	S88P	possibly damaging	Het
Or11g25	A	G	14: 50,723,619 (GRCm39)	R235G	probably benign	Het
Or2p2	C	T	13: 21,256,692 (GRCm39)	V260I	probably benign	Het
Or4n4	G	A	14: 50,519,140 (GRCm39)	T190I	probably benign	Het
Or51k1	T	C	7: 103,661,624 (GRCm39)	D95G	probably benign	Het
Or52e5	T	C	7: 104,718,797 (GRCm39)	V41A	probably benign	Het
Or6k6	G	T	1: 173,944,886 (GRCm39)	T232N	probably damaging	Het
Osgin1	C	T	8: 120,171,992 (GRCm39)	T262I	possibly damaging	Het
Plcb4	A	T	2: 135,844,519 (GRCm39)	M146L	probably damaging	Het
Prkdc	A	T	16: 15,585,830 (GRCm39)	E2456V	possibly damaging	Het
Ptk2	G	A	15: 73,078,045 (GRCm39)	A1004V	probably damaging	Het
Rab15	G	A	12: 76,847,445 (GRCm39)		probably benign	Het
Rad51ap2	T	C	12: 11,507,881 (GRCm39)	V601A	probably benign	Het
Rasef	T	A	4: 73,698,626 (GRCm39)	I12F	possibly damaging	Het
Rdh14	T	A	12: 10,444,567 (GRCm39)	N139K	probably damaging	Het
Rexo2	A	T	9: 48,391,717 (GRCm39)	V46E	probably damaging	Het
Rskr	T	A	11: 78,182,473 (GRCm39)	V94D	possibly damaging	Het
Slmap	A	T	14: 26,186,772 (GRCm39)	L68H	probably damaging	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Tmem132e	T	C	11: 82,325,894 (GRCm39)	I206T	possibly damaging	Het
Trappc8	A	T	18: 20,970,005 (GRCm39)	V995E	probably benign	Het
Vmn2r12	A	C	5: 109,234,301 (GRCm39)	I637S	probably damaging	Het
Vmn2r124	T	C	17: 18,294,231 (GRCm39)	F773L	probably damaging	Het
Vmn2r99	A	T	17: 19,613,924 (GRCm39)	D548V	probably damaging	Het
Wdr81	T	C	11: 75,336,620 (GRCm39)	N1590D	probably benign	Het
Zbtb6	A	T	2: 37,319,054 (GRCm39)	N291K	possibly damaging	Het
Zfp119a	G	A	17: 56,173,325 (GRCm39)	R173C	probably benign	Het
Zmynd15	T	C	11: 70,355,008 (GRCm39)	L335P	probably damaging	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
R2264:Or8b1	UTSW	9	38,399,351 (GRCm39)	missense	possibly damaging	0.50
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
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'- TGTGACATCCTCCCTGTGATG -3'
(R):5'- TACCATAGTTTCCACCTACTCAAG -3'

Sequencing Primer
(F):5'- CTGTGATGCAGCTCTCCTG -3'
(R):5'- ACTCAAGGTTATCCTCAGGGC -3'

Posted On

2015-09-25