Mutagenetix > Incidental Mutation

Incidental Mutation 'R2033:Or8b3'

221502

Institutional Source

Beutler Lab

Gene Symbol

Or8b3

Ensembl Gene

ENSMUSG00000049098

Gene Name

olfactory receptor family 8 subfamily B member 3

Synonyms

MOR164-1, M3, GA_x6K02T2PVTD-32098059-32099003, Olfr147

MMRRC Submission

040040-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R2033 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38313007-38315125 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 38314669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 166 (M166I)

Ref Sequence

ENSEMBL: ENSMUSP00000051933 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056364] [ENSMUST00000214648]

AlphaFold

Q60886

Predicted Effect

probably damaging
Transcript: ENSMUST00000056364
AA Change: M166I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051933
Gene: ENSMUSG00000049098
AA Change: M166I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	310	1.2e-48	PFAM
Pfam:7tm_1	44	292	2.8e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214648
AA Change: M163I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Meta Mutation Damage Score

0.5546

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (53/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	C	4: 144,182,953 (GRCm39)	T172A	probably benign	Het
Atp6v1c1	T	C	15: 38,674,210 (GRCm39)		probably null	Het
Bpifc	G	A	10: 85,836,496 (GRCm39)	T3I	possibly damaging	Het
Car12	A	G	9: 66,624,840 (GRCm39)		probably null	Het
Ccrl2	A	G	9: 110,884,938 (GRCm39)	F187L	possibly damaging	Het
Cep250	G	A	2: 155,812,812 (GRCm39)	R544H	probably damaging	Het
Col4a3	T	G	1: 82,695,732 (GRCm39)		probably benign	Het
Cyb5r2	T	C	7: 107,356,114 (GRCm39)		probably null	Het
Elfn2	A	G	15: 78,556,096 (GRCm39)	V817A	probably damaging	Het
Eln	C	T	5: 134,738,960 (GRCm39)		probably null	Het
Eml5	T	C	12: 98,757,645 (GRCm39)	E1896G	possibly damaging	Het
G530012D18Rik	CACAGA	CA	1: 85,504,875 (GRCm39)		probably null	Het
Galnt11	C	T	5: 25,452,536 (GRCm39)	T16I	probably damaging	Het
Gars1	C	T	6: 55,054,708 (GRCm39)	H672Y	probably benign	Het
Gpr155	T	A	2: 73,178,526 (GRCm39)	H726L	probably benign	Het
Inpp1	T	A	1: 52,829,332 (GRCm39)	N229I	possibly damaging	Het
Isg20	A	C	7: 78,566,281 (GRCm39)	I77L	probably damaging	Het
Kit	G	C	5: 75,797,977 (GRCm39)	D422H	possibly damaging	Het
Lonp2	A	G	8: 87,435,570 (GRCm39)	E602G	possibly damaging	Het
Mink1	T	C	11: 70,503,334 (GRCm39)	V1143A	probably damaging	Het
Myh6	A	C	14: 55,201,102 (GRCm39)	L120R	probably benign	Het
Myo18a	T	A	11: 77,733,925 (GRCm39)		probably null	Het
Nphs2	T	C	1: 156,151,308 (GRCm39)	V249A	probably damaging	Het
Npsr1	A	G	9: 24,224,648 (GRCm39)	K342E	probably benign	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Nudt18	G	T	14: 70,817,056 (GRCm39)	G162V	possibly damaging	Het
Odam	A	G	5: 88,040,278 (GRCm39)	D248G	probably benign	Het
Or1e30	T	C	11: 73,678,264 (GRCm39)	S167P	probably benign	Het
Or4c119	A	G	2: 88,987,498 (GRCm39)	V7A	probably damaging	Het
Or51d1	A	G	7: 102,348,369 (GRCm39)	E308G	probably benign	Het
Or51h5	T	C	7: 102,577,615 (GRCm39)	V260A	probably benign	Het
Pde4b	G	T	4: 102,462,492 (GRCm39)	D723Y	probably benign	Het
Pdzrn3	T	C	6: 101,127,915 (GRCm39)	E917G	probably damaging	Het
Ppip5k1	C	T	2: 121,168,108 (GRCm39)	R715H	probably damaging	Het
Prkdc	T	A	16: 15,505,216 (GRCm39)		probably benign	Het
Ptp4a3	A	G	15: 73,625,618 (GRCm39)	Y21C	probably damaging	Het
Ptprk	C	A	10: 28,468,763 (GRCm39)		probably benign	Het
Rfesd	C	A	13: 76,150,991 (GRCm39)		probably null	Het
Rtel1	A	T	2: 180,993,656 (GRCm39)	K592*	probably null	Het
Siah1a	T	A	8: 87,451,898 (GRCm39)	K195N	probably damaging	Het
Slc5a5	G	T	8: 71,341,231 (GRCm39)	D369E	probably damaging	Het
Slc6a6	A	T	6: 91,701,891 (GRCm39)	I100F	probably benign	Het
Smtn	T	C	11: 3,467,781 (GRCm39)	I913V	probably benign	Het
Stk17b	A	G	1: 53,800,235 (GRCm39)	S248P	probably damaging	Het
Sun1	C	T	5: 139,211,193 (GRCm39)	H149Y	probably damaging	Het
Taar5	T	C	10: 23,846,992 (GRCm39)	I130T	possibly damaging	Het
Tmem132b	G	T	5: 125,826,353 (GRCm39)	V448F	probably damaging	Het
Tmem94	C	A	11: 115,685,154 (GRCm39)	N888K	possibly damaging	Het
Trpc1	T	C	9: 95,588,896 (GRCm39)	N742S	probably damaging	Het
Ttbk2	T	C	2: 120,637,330 (GRCm39)	T112A	probably damaging	Het
Tubb2a	A	T	13: 34,259,439 (GRCm39)	L117Q	probably damaging	Het
Vmn1r60	T	A	7: 5,547,819 (GRCm39)	M94L	probably benign	Het
Vmn2r83	A	G	10: 79,327,653 (GRCm39)	T754A	probably benign	Het

Other mutations in Or8b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01685:Or8b3	APN	9	38,314,317 (GRCm39)	missense	possibly damaging	0.67
IGL02109:Or8b3	APN	9	38,314,382 (GRCm39)	missense	possibly damaging	0.91
IGL02805:Or8b3	APN	9	38,315,132 (GRCm39)	utr 3 prime	probably benign
IGL02875:Or8b3	APN	9	38,314,472 (GRCm39)	missense	probably damaging	0.99
R1133:Or8b3	UTSW	9	38,315,027 (GRCm39)	missense	probably benign	0.00
R1446:Or8b3	UTSW	9	38,314,601 (GRCm39)	missense	possibly damaging	0.73
R1591:Or8b3	UTSW	9	38,314,232 (GRCm39)	missense	probably damaging	1.00
R1719:Or8b3	UTSW	9	38,314,550 (GRCm39)	missense	possibly damaging	0.67
R1895:Or8b3	UTSW	9	38,314,182 (GRCm39)	start codon destroyed	probably null	0.88
R1946:Or8b3	UTSW	9	38,314,182 (GRCm39)	start codon destroyed	probably null	0.88
R1981:Or8b3	UTSW	9	38,315,031 (GRCm39)	missense	probably damaging	0.99
R4856:Or8b3	UTSW	9	38,314,764 (GRCm39)	missense	probably damaging	1.00
R5322:Or8b3	UTSW	9	38,314,862 (GRCm39)	missense	probably damaging	1.00
R6017:Or8b3	UTSW	9	38,314,916 (GRCm39)	missense	probably benign	0.01
R6037:Or8b3	UTSW	9	38,314,601 (GRCm39)	missense	probably benign	0.07
R6037:Or8b3	UTSW	9	38,314,601 (GRCm39)	missense	probably benign	0.07
R7032:Or8b3	UTSW	9	38,314,965 (GRCm39)	missense	possibly damaging	0.53
R7042:Or8b3	UTSW	9	38,314,196 (GRCm39)	missense	probably damaging	0.98
R7351:Or8b3	UTSW	9	38,314,739 (GRCm39)	missense	probably damaging	1.00
R7460:Or8b3	UTSW	9	38,314,649 (GRCm39)	missense	possibly damaging	0.95
R7820:Or8b3	UTSW	9	38,314,862 (GRCm39)	missense	probably damaging	1.00
R8161:Or8b3	UTSW	9	38,314,803 (GRCm39)	missense	probably damaging	0.97
R8196:Or8b3	UTSW	9	38,314,904 (GRCm39)	missense	probably damaging	1.00
R9103:Or8b3	UTSW	9	38,314,518 (GRCm39)	missense	probably damaging	1.00
R9213:Or8b3	UTSW	9	38,315,047 (GRCm39)	nonsense	probably null
R9717:Or8b3	UTSW	9	38,314,841 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTGCATGACTCAACTGTTTC -3'
(R):5'- ACAGGTGCTGAAGGCTTTTG -3'

Sequencing Primer
(F):5'- GTGCATGACTCAACTGTTTCTCTTTC -3'
(R):5'- GCTGAAGGCTTTTGCTCTTC -3'

Posted On

2014-08-25