Mutagenetix > Incidental Mutation

Incidental Mutation 'R1434:Or5b108'

159418

Institutional Source

Beutler Lab

Gene Symbol

Or5b108

Ensembl Gene

ENSMUSG00000094721

Gene Name

olfactory receptor family 5 subfamily B member 108

Synonyms

GA_x6K02T2RE5P-3517488-3518411, Olfr1462, MOR202-13

MMRRC Submission

039489-MU

Accession Numbers

Essential gene?

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

Stock #

R1434 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13168033-13168956 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13168662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 210 (I210M)

Ref Sequence

ENSEMBL: ENSMUSP00000147174 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076832] [ENSMUST00000208533]

AlphaFold

Q8VFW3

Predicted Effect

probably benign
Transcript: ENSMUST00000076832
AA Change: I210M

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000076107
Gene: ENSMUSG00000094721
AA Change: I210M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.3e-51	PFAM
Pfam:7tm_1	39	288	6e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208533
AA Change: I210M

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.4%

Validation Efficiency

99% (73/74)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,348,959 (GRCm39)	H851N	probably benign	Het
Adamtsl4	T	C	3: 95,588,094 (GRCm39)	Y631C	probably damaging	Het
Ankhd1	A	G	18: 36,758,212 (GRCm39)	I969V	probably benign	Het
Apob	A	G	12: 8,059,715 (GRCm39)	I2699M	probably damaging	Het
Aqr	A	T	2: 113,980,890 (GRCm39)	L297Q	probably damaging	Het
Arb2a	A	T	13: 77,910,041 (GRCm39)	Y98F	probably damaging	Het
Camsap1	A	G	2: 25,835,190 (GRCm39)	Y301H	probably damaging	Het
Ccdc88c	A	G	12: 100,905,425 (GRCm39)		probably benign	Het
Cd209b	T	A	8: 3,973,367 (GRCm39)	I106F	possibly damaging	Het
Cdkn1b	T	A	6: 134,898,060 (GRCm39)	W60R	probably damaging	Het
Coasy	A	G	11: 100,975,822 (GRCm39)		probably benign	Het
Col2a1	T	A	15: 97,877,532 (GRCm39)	Q1017L	probably damaging	Het
Cspg4b	G	A	13: 113,505,026 (GRCm39)	V510I	possibly damaging	Het
Ctnnal1	T	A	4: 56,847,971 (GRCm39)	N56I	probably damaging	Het
Cyb561d2	T	A	9: 107,418,842 (GRCm39)		probably benign	Het
Dcst1	G	T	3: 89,259,826 (GRCm39)	T632N	probably damaging	Het
Ddx1	C	T	12: 13,287,232 (GRCm39)	V267I	probably benign	Het
Dnah10	A	T	5: 124,852,050 (GRCm39)	M1736L	probably benign	Het
Eln	G	A	5: 134,758,291 (GRCm39)		probably benign	Het
Elp1	T	A	4: 56,781,193 (GRCm39)	E493D	probably benign	Het
Enpp2	A	T	15: 54,726,077 (GRCm39)	D566E	probably damaging	Het
Ezh1	T	C	11: 101,085,743 (GRCm39)	K638R	probably damaging	Het
Fdx2	C	A	9: 20,984,694 (GRCm39)	G37W	probably benign	Het
Grin2b	T	C	6: 135,820,193 (GRCm39)	I340V	probably benign	Het
Il16	T	C	7: 83,304,520 (GRCm39)	T671A	probably benign	Het
Kcnd2	T	A	6: 21,216,356 (GRCm39)	M20K	probably damaging	Het
Kndc1	C	T	7: 139,502,600 (GRCm39)	S962F	probably damaging	Het
L1td1	A	G	4: 98,626,054 (GRCm39)	S750G	possibly damaging	Het
Lama2	A	G	10: 27,084,366 (GRCm39)	C935R	probably damaging	Het
Lgalsl	T	C	11: 20,776,418 (GRCm39)	D158G	possibly damaging	Het
Lman1	A	T	18: 66,126,144 (GRCm39)		probably null	Het
Lmtk2	A	G	5: 144,111,407 (GRCm39)	E709G	probably damaging	Het
Lrfn3	T	C	7: 30,055,352 (GRCm39)	H531R	possibly damaging	Het
Mark3	A	G	12: 111,589,759 (GRCm39)		probably benign	Het
Mov10	T	C	3: 104,702,490 (GRCm39)	E997G	probably damaging	Het
Myo15a	T	A	11: 60,395,157 (GRCm39)	W2484R	probably benign	Het
Myo1g	G	T	11: 6,459,372 (GRCm39)	Q833K	probably benign	Het
Ncoa3	T	A	2: 165,897,430 (GRCm39)	D740E	probably benign	Het
Nol12	A	G	15: 78,822,153 (GRCm39)		probably benign	Het
Nrxn2	T	A	19: 6,493,642 (GRCm39)		probably null	Het
Nsfl1c	A	C	2: 151,342,666 (GRCm39)	I79L	probably benign	Het
Or52b2	T	C	7: 104,986,468 (GRCm39)	I152V	probably benign	Het
Or5k1	G	T	16: 58,617,811 (GRCm39)	H133N	probably benign	Het
Osbpl8	A	C	10: 111,127,442 (GRCm39)	E842A	probably benign	Het
Pdxk	G	T	10: 78,276,645 (GRCm39)	T310K	probably benign	Het
Phip	T	G	9: 82,841,658 (GRCm39)	K54Q	probably damaging	Het
Pklr	A	T	3: 89,050,342 (GRCm39)	D366V	probably damaging	Het
Plxna2	T	A	1: 194,433,848 (GRCm39)		probably benign	Het
Ppp4r3a	A	T	12: 101,009,783 (GRCm39)	V618E	probably damaging	Het
Prdm12	A	T	2: 31,530,319 (GRCm39)	Q70L	possibly damaging	Het
Ptgr3	A	G	18: 84,112,596 (GRCm39)	K91E	probably benign	Het
Ptpn21	A	T	12: 98,654,849 (GRCm39)	M706K	probably damaging	Het
Ptprq	A	T	10: 107,422,575 (GRCm39)	F1606I	probably damaging	Het
Rasgrp4	T	C	7: 28,837,152 (GRCm39)		probably null	Het
Rlbp1	C	A	7: 79,029,661 (GRCm39)		probably null	Het
Rtp2	T	C	16: 23,746,193 (GRCm39)	D166G	probably benign	Het
Ryr3	A	C	2: 112,475,604 (GRCm39)	F4481V	probably damaging	Het
Scn2a	A	G	2: 65,532,335 (GRCm39)	D649G	possibly damaging	Het
Slc30a5	T	A	13: 100,939,950 (GRCm39)	D655V	probably damaging	Het
Slco5a1	G	A	1: 12,942,132 (GRCm39)	A838V	probably benign	Het
Spata6l	G	T	19: 28,905,039 (GRCm39)		probably benign	Het
Srprb	A	G	9: 103,067,501 (GRCm39)	V239A	probably damaging	Het
Tceanc2	T	C	4: 107,004,837 (GRCm39)	T104A	probably benign	Het
Tcp1	T	C	17: 13,141,493 (GRCm39)		probably null	Het
Unc13b	C	T	4: 43,239,385 (GRCm39)	R1056*	probably null	Het
Wdr19	G	A	5: 65,380,847 (GRCm39)		probably benign	Het
Zfhx4	T	A	3: 5,306,919 (GRCm39)	H48Q	probably benign	Het
Zfp787	T	A	7: 6,135,234 (GRCm39)	H339L	probably damaging	Het
Zfp839	G	T	12: 110,827,333 (GRCm39)	R408L	probably benign	Het

Other mutations in Or5b108

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Or5b108	APN	19	13,168,598 (GRCm39)	missense	possibly damaging	0.60
IGL01999:Or5b108	APN	19	13,168,924 (GRCm39)	missense	probably damaging	0.99
IGL02326:Or5b108	APN	19	13,168,779 (GRCm39)	nonsense	probably null
IGL03381:Or5b108	APN	19	13,168,769 (GRCm39)	missense	probably damaging	0.98
R1184:Or5b108	UTSW	19	13,168,739 (GRCm39)	missense	probably damaging	0.99
R2161:Or5b108	UTSW	19	13,168,673 (GRCm39)	missense	probably damaging	0.99
R2399:Or5b108	UTSW	19	13,168,709 (GRCm39)	missense	probably benign	0.02
R4583:Or5b108	UTSW	19	13,168,062 (GRCm39)	missense	probably damaging	1.00
R5937:Or5b108	UTSW	19	13,168,675 (GRCm39)	missense	probably damaging	1.00
R7164:Or5b108	UTSW	19	13,168,270 (GRCm39)	missense	probably benign	0.00
R7270:Or5b108	UTSW	19	13,168,768 (GRCm39)	missense	possibly damaging	0.90
R7645:Or5b108	UTSW	19	13,168,937 (GRCm39)	missense	probably benign	0.01
R7649:Or5b108	UTSW	19	13,168,136 (GRCm39)	missense	possibly damaging	0.94
R9713:Or5b108	UTSW	19	13,168,727 (GRCm39)	missense	probably benign	0.15
R9742:Or5b108	UTSW	19	13,168,769 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGTAAGCCCCTACATTATGCCACC -3'
(R):5'- CATGCTGTAGACCAGAGGGTTCAAC -3'

Sequencing Primer
(F):5'- ACATTTGTGGTTTCCTGAATGC -3'
(R):5'- CAGACACAATTTTGTCAGTGTCC -3'

Posted On

2014-03-14