Mutagenetix > Incidental Mutation

Incidental Mutation 'R2871:Olfr45'

253734

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

040459-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R2871 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140681951-140696845 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140691285 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 127 (I127V)

Ref Sequence

ENSEMBL: ENSMUSP00000149309 (fasta)

Gene Model

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

AlphaFold

Q8VGM1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084454
AA Change: I127V

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000081492
Gene: ENSMUSG00000066122
AA Change: I127V

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: I127V

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214637
AA Change: I127V

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 99.5%
3x: 98.2%
10x: 92.4%
20x: 72.0%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,955,176	C811R	possibly damaging	Het
AI481877	A	C	4: 59,093,850	L226R	probably damaging	Het
Akap8l	G	A	17: 32,338,442	T65I	possibly damaging	Het
Arid4a	T	A	12: 71,022,260		probably null	Het
Armc2	C	T	10: 41,966,700		probably null	Het
Atp6v1g1	A	G	4: 63,550,021	Y87C	probably benign	Het
Cfap54	A	T	10: 92,921,419	F273I	possibly damaging	Het
Clasrp	C	A	7: 19,585,240		probably benign	Het
Csmd2	T	C	4: 128,557,718	F113S	unknown	Het
Cyp4a14	C	A	4: 115,487,301	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,458,362	H260R	possibly damaging	Het
Ddrgk1	T	A	2: 130,664,644		probably benign	Het
Dhx57	A	T	17: 80,251,376	D1051E	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,178,767		probably null	Het
Eif4enif1	C	T	11: 3,242,586	P805S	probably damaging	Het
Eml5	C	T	12: 98,865,401	D433N	probably damaging	Het
Fan1	A	G	7: 64,363,190	I668T	probably benign	Het
Frmpd4	A	T	X: 167,477,247	D1166E	probably benign	Het
Gm813	A	T	16: 58,613,979	I125K	probably benign	Het
Gria2	G	A	3: 80,702,492	T670I	probably damaging	Het
Grid2ip	C	A	5: 143,357,929	Q127K	probably benign	Het
Hdhd2	T	C	18: 76,955,006	F44L	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hmcn1	A	T	1: 150,738,716	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,257,861	V1335I	probably benign	Het
Ighv2-2	G	A	12: 113,588,498	T40I	possibly damaging	Het
Kcnk10	T	A	12: 98,434,813	R520S	probably benign	Het
Kif1c	A	G	11: 70,724,081	E567G	probably damaging	Het
Klf8	A	T	X: 153,382,682	E82D	probably damaging	Het
Kpna7	T	C	5: 144,993,935	T367A	probably benign	Het
Lpo	A	G	11: 87,816,524	I221T	possibly damaging	Het
Lrrn3	T	C	12: 41,452,723	I532V	probably benign	Het
Matr3	T	A	18: 35,572,296	S91R	probably benign	Het
Mki67	G	A	7: 135,708,149	P191L	probably benign	Het
Mlxip	A	G	5: 123,452,667	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678	P65L	possibly damaging	Het
Mroh2a	C	A	1: 88,255,565	L1292I	probably damaging	Het
Msh2	C	A	17: 87,685,584	Q314K	possibly damaging	Het
Mtor	T	A	4: 148,540,030	M2089K	probably benign	Het
Myo9b	G	A	8: 71,334,337	R721Q	probably benign	Het
Nlrp4b	C	T	7: 10,710,243	Q40*	probably null	Het
Nomo1	C	A	7: 46,046,937	T293N	probably damaging	Het
Notum	A	G	11: 120,660,196	V48A	probably benign	Het
Npas3	C	T	12: 54,068,013	R542*	probably null	Het
Olfr1101	A	T	2: 86,988,848	C109*	probably null	Het
Olfr419	T	C	1: 174,250,526	S134G	probably benign	Het
Olfr71	C	A	4: 43,706,458	V37L	probably benign	Het
Ostc	T	C	3: 130,703,508	N80S	probably damaging	Het
Palmd	T	C	3: 116,923,751	R366G	possibly damaging	Het
Parp1	A	G	1: 180,573,665	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,737,471	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,976,834	T372K	probably benign	Het
Pkp4	C	A	2: 59,308,156	T250K	probably benign	Het
Plekhg5	T	A	4: 152,107,503	C433S	probably benign	Het
Plin2	A	G	4: 86,668,678	M1T	probably null	Het
Prdx4	A	G	X: 155,340,464	V15A	probably benign	Het
Psmb8	T	C	17: 34,200,170	I146T	probably damaging	Het
Psmd13	A	T	7: 140,887,055	T116S	probably damaging	Het
Rel	T	C	11: 23,761,129	I13V	probably benign	Het
Reln	C	T	5: 22,049,791	V527I	possibly damaging	Het
Rnf6	T	C	5: 146,210,405	Y601C	probably benign	Het
Rps6kc1	T	C	1: 190,899,569	I48M	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Slc39a8	T	A	3: 135,886,793		probably null	Het
Sppl2c	C	T	11: 104,187,315	P314S	probably benign	Het
St5	A	T	7: 109,557,430	Y38N	probably benign	Het
Tnni3k	C	T	3: 154,938,750		probably null	Het
Ugt1a1	AT	A	1: 88,212,371		probably null	Het
Vmn2r68	A	C	7: 85,233,626	M306R	probably benign	Het
Vmn2r70	T	A	7: 85,559,019	Y750F	probably damaging	Het
Vwa7	G	A	17: 35,021,242	M395I	probably damaging	Het
Zfp53	A	T	17: 21,508,078	E124D	probably benign	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
R0107:Olfr45	UTSW	7	140691345	missense	probably benign
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
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
R7861:Olfr45	UTSW	7	140691571	missense	probably damaging	1.00
R8077:Olfr45	UTSW	7	140691133	missense	probably benign	0.16
R8268:Olfr45	UTSW	7	140691517	missense	probably damaging	1.00
R8532:Olfr45	UTSW	7	140691799	missense	probably damaging	0.98
R8978:Olfr45	UTSW	7	140691729	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CACGGATATTTTGTGCACCTCC -3'
(R):5'- GTAAGCACAAAATTGACGCCTC -3'

Sequencing Primer
(F):5'- CTCTGTGATTCCTAAGGCCTTGG -3'
(R):5'- GGAATCTCCCAAAAGAGTCATAATG -3'

Posted On

2014-12-04