Mutagenetix > Incidental Mutation

Incidental Mutation 'R4066:Or8b1'

316119

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

040973-MU

Accession Numbers

Essential gene?

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

Stock #

R4066 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38399327-38400262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38399778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 151 (M151K)

Ref Sequence

ENSEMBL: ENSMUSP00000151008 (fasta)

Gene Model

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

AlphaFold

K7N5P3

Predicted Effect

probably benign
Transcript: ENSMUST00000045493
AA Change: M151K

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000039040
Gene: ENSMUSG00000039962
AA Change: M151K

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 benign
Transcript: ENSMUST00000214344
AA Change: M151K

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

96% (50/52)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	T	1: 63,602,584 (GRCm39)	H582L	probably damaging	Het
Ankrd13d	C	T	19: 4,320,388 (GRCm39)	A118T	probably benign	Het
Arhgap30	C	T	1: 171,235,891 (GRCm39)	T755I	probably benign	Het
Cab39l	A	G	14: 59,784,454 (GRCm39)	H285R	probably benign	Het
Dpyd	AAT	AATGTATATATAT	3: 118,690,738 (GRCm39)		probably benign	Het
Dspp	T	A	5: 104,325,060 (GRCm39)	N474K	unknown	Het
Fanci	T	C	7: 79,062,505 (GRCm39)		probably null	Het
Fras1	T	A	5: 96,918,542 (GRCm39)	I3526K	possibly damaging	Het
Fut8	T	A	12: 77,510,835 (GRCm39)	Y421N	probably damaging	Het
Gm12258	C	T	11: 58,749,352 (GRCm39)	L176F	probably benign	Het
Gm8220	A	T	14: 44,523,095 (GRCm39)	R12*	probably null	Het
Hecw1	T	C	13: 14,491,016 (GRCm39)	S659G	probably damaging	Het
Hnrnpr	C	A	4: 136,066,657 (GRCm39)		probably benign	Het
Htt	C	T	5: 35,036,191 (GRCm39)	T2046I	probably benign	Het
Kat7	T	C	11: 95,174,967 (GRCm39)	D259G	possibly damaging	Het
Klra9	T	C	6: 130,165,707 (GRCm39)	T103A	probably benign	Het
Lad1	A	G	1: 135,755,165 (GRCm39)	E147G	probably damaging	Het
Lipo2	T	C	19: 33,698,259 (GRCm39)	I373V	probably benign	Het
Ltb4r1	G	T	14: 56,004,952 (GRCm39)	W85L	probably damaging	Het
Ltn1	T	C	16: 87,213,118 (GRCm39)	Y481C	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Muc4	A	T	16: 32,569,869 (GRCm39)	I310F	possibly damaging	Het
Myl10	A	G	5: 136,724,304 (GRCm39)	K70E	probably damaging	Het
Nptx2	G	T	5: 144,493,122 (GRCm39)	W403L	probably damaging	Het
Nyap2	A	G	1: 81,219,550 (GRCm39)	Y524C	probably damaging	Het
Or4a72	T	A	2: 89,405,523 (GRCm39)	L182F	probably damaging	Het
Or6b2b	A	G	1: 92,418,911 (GRCm39)	C189R	probably damaging	Het
Pde9a	A	G	17: 31,662,812 (GRCm39)	*64W	probably null	Het
Ppp2r5b	T	C	19: 6,279,360 (GRCm39)	Y379C	probably damaging	Het
Rd3l	T	G	12: 111,945,945 (GRCm39)	N178T	probably benign	Het
Recql4	A	G	15: 76,590,027 (GRCm39)	Y673H	probably damaging	Het
Rnps1-ps	T	A	6: 7,983,009 (GRCm39)		noncoding transcript	Het
Shcbp1	A	G	8: 4,798,716 (GRCm39)	I401T	probably damaging	Het
Shd	A	T	17: 56,278,581 (GRCm39)	D48V	probably damaging	Het
Slc14a1	A	G	18: 78,154,592 (GRCm39)	W209R	probably damaging	Het
Slc2a9	T	C	5: 38,640,692 (GRCm39)	K6E	probably benign	Het
Slco6d1	A	G	1: 98,391,571 (GRCm39)		probably benign	Het
Spic	T	C	10: 88,511,545 (GRCm39)	H237R	possibly damaging	Het
Stau2	A	G	1: 16,464,283 (GRCm39)	S156P	possibly damaging	Het
Stmn2	T	C	3: 8,574,668 (GRCm39)		probably benign	Het
Togaram2	C	A	17: 72,023,233 (GRCm39)		probably benign	Het
Trpc5	T	A	X: 143,202,594 (GRCm39)	R545*	probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Wdfy3	C	T	5: 102,070,313 (GRCm39)	V1152I	probably benign	Het
Xpo4	G	T	14: 57,825,511 (GRCm39)	H939N	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
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
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'- ATCTCTTATACGGGGTGTATGACC -3'
(R):5'- ATGCTGGAGAGAATGAACCC -3'

Sequencing Primer
(F):5'- CGCTATGTAGCCATCTGT -3'
(R):5'- TGCTGGGCACAAGGATATTG -3'

Posted On

2015-05-15