Mutagenetix > Incidental Mutation

Incidental Mutation 'R4551:Olfr45'

333958

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

041782-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R4551 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140681951-140696845 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140691742 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 279 (Y279F)

Ref Sequence

ENSEMBL: ENSMUSP00000149309 (fasta)

Gene Model

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

AlphaFold

Q8VGM1

Predicted Effect

probably damaging
Transcript: ENSMUST00000084454
AA Change: Y279F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081492
Gene: ENSMUSG00000066122
AA Change: Y279F

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: Y279F

Predicted Effect

probably damaging
Transcript: ENSMUST00000214637
AA Change: Y279F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.2711

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (71/71)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	G	11: 120,011,569	E610A	probably benign	Het
Abhd17b	T	C	19: 21,680,926	S176P	possibly damaging	Het
Adgrg7	A	G	16: 56,748,012	Y427H	probably damaging	Het
Alox15	T	A	11: 70,344,596	I647L	probably benign	Het
Ankhd1	C	A	18: 36,655,507		probably null	Het
Arid1a	A	C	4: 133,695,699		probably benign	Het
Armcx5	T	A	X: 135,746,507	V444D	probably damaging	Het
C4bp	A	G	1: 130,636,727	Y407H	possibly damaging	Het
Cog6	T	A	3: 52,998,320	E96V	probably damaging	Het
Cox20	A	C	1: 178,322,549	N96T	probably benign	Het
Cpa3	T	C	3: 20,219,770	I351V	probably benign	Het
Cpd	C	T	11: 76,811,886	G552D	probably damaging	Het
Cyld	A	G	8: 88,707,134	K184E	possibly damaging	Het
Dab2	G	A	15: 6,435,294	G324D	probably damaging	Het
Depdc1a	T	A	3: 159,522,584	D324E	probably damaging	Het
Dnah9	T	C	11: 65,841,366	E4238G	probably damaging	Het
Dync1i1	T	A	6: 5,923,206	D275E	probably benign	Het
Epgn	A	T	5: 91,027,562	K14*	probably null	Het
Farp2	T	A	1: 93,618,592	L868Q	possibly damaging	Het
Gpr45	A	G	1: 43,032,790	T198A	probably benign	Het
Grk2	C	T	19: 4,286,056	V402M	possibly damaging	Het
Gsap	A	T	5: 21,290,571	D79V	probably damaging	Het
Gtf2h3	A	G	5: 124,590,419		probably benign	Het
Hus1b	C	A	13: 30,947,076	S200I	probably damaging	Het
Hypk	A	G	2: 121,453,480		probably null	Het
Ikbke	T	C	1: 131,258,033		probably benign	Het
Kat6b	A	G	14: 21,661,448	E670G	probably damaging	Het
Kif26b	T	A	1: 178,884,035	I740N	probably damaging	Het
Lhx3	G	A	2: 26,201,190	P369L	probably damaging	Het
Man2c1	T	C	9: 57,131,161	L35P	probably damaging	Het
Micalcl	T	A	7: 112,381,916	S366T	possibly damaging	Het
Mroh9	A	T	1: 163,044,093	I607N	probably damaging	Het
Mybphl	T	C	3: 108,374,163	I65T	possibly damaging	Het
Myo1g	A	G	11: 6,517,874	I187T	probably damaging	Het
Myo7b	T	C	18: 31,985,108	S822G	probably benign	Het
Nkx2-4	C	A	2: 147,084,922	A142S	probably benign	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Odf4	C	T	11: 68,922,040	S264N	probably benign	Het
Olfr360	G	T	2: 37,068,343	V13L	probably benign	Het
Olfr657	A	T	7: 104,636,424	H250L	probably damaging	Het
Papolb	T	C	5: 142,529,178	I237V	probably benign	Het
Parpbp	T	A	10: 88,093,702	Q428L	possibly damaging	Het
Pcdhb16	T	C	18: 37,479,834	F616L	probably damaging	Het
Pdk3	A	T	X: 93,782,240	M253K	probably damaging	Het
Pgap2	C	A	7: 102,226,467		probably benign	Het
Pkhd1l1	C	A	15: 44,550,885	N2849K	probably damaging	Het
Pprc1	A	G	19: 46,067,225		probably benign	Het
Psma2	A	G	13: 14,616,845	Y25C	possibly damaging	Het
Ptgir	A	G	7: 16,906,869	M29V	possibly damaging	Het
Ptpn5	C	A	7: 47,090,852		probably benign	Het
Pxn	G	T	5: 115,552,720		probably benign	Het
Scd3	C	A	19: 44,215,439	A22E	probably benign	Het
Sdr42e1	T	C	8: 117,663,608	E98G	probably benign	Het
Slc14a2	A	C	18: 78,195,853	S184A	probably benign	Het
Tmem236	A	T	2: 14,219,153	Q251L	probably benign	Het
Trappc8	T	C	18: 20,874,672	T129A	probably benign	Het
Vmn1r90	A	C	7: 14,561,969	M68R	possibly damaging	Het
Vmn2r105	A	G	17: 20,226,351	V462A	probably benign	Het
Vmn2r7	T	C	3: 64,690,689	T816A	possibly damaging	Het
Vmn2r81	T	A	10: 79,268,407	I288K	possibly damaging	Het
Zfp180	A	C	7: 24,104,573	K139T	possibly damaging	Het
Zfp932	T	C	5: 110,009,639	V401A	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
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
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'- ATCATTGCCAGCATCCTGC -3'
(R):5'- TGGTCCAGTCCTTGCATCAG -3'

Sequencing Primer
(F):5'- CGCATGCGTTCTGCTGAG -3'
(R):5'- GGCAAAGCCTTTCTAAAGCAG -3'

Posted On

2015-08-18