Mutagenetix > Incidental Mutations

Incidental Mutation 'R0107:Olfr45'

33326

Institutional Source

Beutler Lab

Gene Symbol

Olfr45

Ensembl Gene

ENSMUSG00000066122

Gene Name

olfactory receptor 45

Synonyms

IB6, GA_x6K02T2PBJ9-42837030-42837962, MOR253-2

MMRRC Submission

038393-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R0107 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

140681951-140696845 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140691345 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 147 (M147L)

Ref Sequence

ENSEMBL: ENSMUSP00000149309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084454] [ENSMUST00000210241] [ENSMUST00000214637]

Predicted Effect

probably benign
Transcript: ENSMUST00000084454
AA Change: M147L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000081492
Gene: ENSMUSG00000066122
AA Change: M147L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	2.8e-50	PFAM
Pfam:7TM_GPCR_Srsx	36	176	1.2e-7	PFAM
Pfam:7tm_1	42	291	3.7e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210241
AA Change: M147L

Predicted Effect

probably benign
Transcript: ENSMUST00000214637
AA Change: M147L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 90.6%

Validation Efficiency

99% (71/72)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,080,834	V825A	probably benign	Het
Adamts7	T	C	9: 90,180,720	I409T	possibly damaging	Het
Adck1	T	C	12: 88,446,656	W253R	possibly damaging	Het
Afg3l2	A	G	18: 67,431,766	F213L	probably damaging	Het
Ankle2	T	C	5: 110,253,027	V743A	probably benign	Het
Ankrd34c	C	T	9: 89,729,484	R268H	probably benign	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Ccdc7b	T	G	8: 129,178,197		probably benign	Het
Cd320	A	T	17: 33,848,085	M169L	probably benign	Het
Chn1	A	G	2: 73,614,684	Y338H	probably damaging	Het
Chuk	T	A	19: 44,096,919	S263C	probably damaging	Het
Dennd4b	C	A	3: 90,272,736	P663T	possibly damaging	Het
Dnajc24	T	G	2: 106,001,914		probably benign	Het
Fam172a	A	G	13: 77,902,814	D145G	probably damaging	Het
Fbn2	A	G	18: 58,056,203	V1617A	probably benign	Het
Fermt2	T	C	14: 45,464,822	N502D	probably damaging	Het
Frrs1	A	T	3: 116,896,716	I3F	probably damaging	Het
Fut1	C	A	7: 45,618,846	Q20K	possibly damaging	Het
Gbf1	T	C	19: 46,284,828	V1709A	probably benign	Het
Gfra3	G	T	18: 34,711,306	H60Q	probably benign	Het
Gm10750	T	A	2: 149,016,053	M93L	unknown	Het
Gm5538	T	A	3: 59,752,316	L397I	possibly damaging	Het
Hmcn1	T	A	1: 150,587,015	I5124L	probably benign	Het
Hps3	A	C	3: 20,030,796	L76R	probably damaging	Het
Ifrd1	T	A	12: 40,214,081	Q105L	probably damaging	Het
Irs2	A	T	8: 11,004,691	V1247E	probably damaging	Het
Itgal	T	C	7: 127,328,559		probably benign	Het
Ivns1abp	A	T	1: 151,361,570	N495I	probably damaging	Het
Kank1	T	A	19: 25,430,366		probably benign	Het
Mroh8	T	C	2: 157,225,468	Q657R	probably benign	Het
Mthfd1l	T	C	10: 4,041,838	Y597H	probably benign	Het
Myom1	G	A	17: 71,077,365	V692I	probably damaging	Het
Olfr347	T	G	2: 36,734,718	Y132*	probably null	Het
Olfr835	A	G	9: 19,035,333	D70G	probably damaging	Het
Palmd	A	T	3: 116,924,076	H257Q	probably damaging	Het
Pcnx2	A	T	8: 125,753,586	V1994D	probably benign	Het
Phkb	G	A	8: 86,016,931	G553S	probably benign	Het
Plekha5	G	A	6: 140,591,747	R646K	possibly damaging	Het
Ptprn	A	T	1: 75,255,712	L453M	probably damaging	Het
Ptprz1	T	A	6: 23,000,570	D886E	probably damaging	Het
Rcn1	T	A	2: 105,394,781	I110F	possibly damaging	Het
Scn1a	T	A	2: 66,324,633	T661S	probably benign	Het
Slc6a19	A	G	13: 73,684,057	Y467H	possibly damaging	Het
Slc9c1	T	A	16: 45,575,420	D611E	probably benign	Het
Slitrk6	T	C	14: 110,751,963	E104G	possibly damaging	Het
Spag17	A	T	3: 100,050,787	K920N	possibly damaging	Het
St3gal5	A	G	6: 72,142,149	S82G	probably benign	Het
Tlk1	T	C	2: 70,713,989	*767W	probably null	Het
Tln2	A	G	9: 67,370,706	V342A	probably damaging	Het
Tmem104	T	A	11: 115,202,180	M132K	probably damaging	Het
Tmem184c	A	G	8: 77,597,073	S387P	possibly damaging	Het
Tmtc1	A	G	6: 148,425,913	V34A	possibly damaging	Het
Trim46	A	G	3: 89,236,333	F596S	probably damaging	Het
Unc79	T	A	12: 103,134,525	D1870E	possibly damaging	Het
Utp20	T	C	10: 88,778,391	T1234A	probably benign	Het
Vmn1r31	T	A	6: 58,472,743	T46S	probably benign	Het
Vps13a	A	T	19: 16,691,824	L1341Q	probably benign	Het
Wdr72	A	T	9: 74,210,433	D821V	probably damaging	Het
Zfhx4	T	C	3: 5,398,982	L1400P	probably damaging	Het
Zfp217	T	A	2: 170,114,874	K735*	probably null	Het
Zfp235	A	G	7: 24,137,116	Q29R	probably damaging	Het
Zfp628	A	G	7: 4,920,168	Y463C	probably damaging	Het
Zkscan4	A	G	13: 21,484,581	T401A	possibly damaging	Het

Other mutations in Olfr45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Olfr45	APN	7	140691436	missense	probably damaging	1.00
IGL01434:Olfr45	APN	7	140691618	missense	probably damaging	1.00
IGL01697:Olfr45	APN	7	140691652	missense	possibly damaging	0.61
IGL02167:Olfr45	APN	7	140691751	missense	probably damaging	0.98
IGL02388:Olfr45	APN	7	140691111	missense	probably benign	0.00
IGL03054:Olfr45	UTSW	7	140691710	missense	probably benign	0.10
R0403:Olfr45	UTSW	7	140691309	missense	possibly damaging	0.80
R1344:Olfr45	UTSW	7	140691799	missense	probably damaging	0.98
R1859:Olfr45	UTSW	7	140691658	missense	possibly damaging	0.80
R2871:Olfr45	UTSW	7	140691285	missense	possibly damaging	0.95
R2871:Olfr45	UTSW	7	140691285	missense	possibly damaging	0.95
R3611:Olfr45	UTSW	7	140691100	missense	probably benign	0.01
R3915:Olfr45	UTSW	7	140690975	missense	probably benign
R4551:Olfr45	UTSW	7	140691742	missense	probably damaging	1.00
R4552:Olfr45	UTSW	7	140691742	missense	probably damaging	1.00
R4627:Olfr45	UTSW	7	140691378	missense	probably benign	0.00
R4628:Olfr45	UTSW	7	140691378	missense	probably benign	0.00
R4629:Olfr45	UTSW	7	140691378	missense	probably benign	0.00
R4990:Olfr45	UTSW	7	140691447	missense	probably damaging	0.99
R5503:Olfr45	UTSW	7	140691396	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GAAAGACATAGCAGTGGACCCCATC -3'
(R):5'- GGTAAGCACAAAATTGACGCCTCC -3'

Sequencing Primer
(F):5'- GGGCAACATTTTGATCATCGC -3'
(R):5'- ATTGACGCCTCCAAAAAAGG -3'

Posted On

2013-05-09