Mutagenetix > Incidental Mutations

Incidental Mutation 'R5044:Olfr1447'

394289

Institutional Source

Beutler Lab

Gene Symbol

Olfr1447

Ensembl Gene

ENSMUSG00000060303

Gene Name

olfactory receptor 1447

Synonyms

GA_x6K02T2RE5P-3231251-3230331, MOR202-3

MMRRC Submission

042634-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R5044 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12899434-12903743 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12901001 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 260 (Y260H)

Ref Sequence

ENSEMBL: ENSMUSP00000149392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071484] [ENSMUST00000208343] [ENSMUST00000216989]

Predicted Effect

probably damaging
Transcript: ENSMUST00000071484
AA Change: Y260H

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

SMART Domains

Protein: ENSMUSP00000071419
Gene: ENSMUSG00000060303
AA Change: Y260H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	5.3e-50	PFAM
Pfam:7TM_GPCR_Srsx	36	306	2.1e-7	PFAM
Pfam:7tm_1	42	291	7.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208343

Predicted Effect

probably damaging
Transcript: ENSMUST00000216989
AA Change: Y260H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218013

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220222

Meta Mutation Damage Score

0.2998

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

96% (73/76)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,373,323	F3387I	possibly damaging	Het
Acacb	T	A	5: 114,166,027	S170R	probably benign	Het
Adamtsl4	A	G	3: 95,681,650		probably null	Het
Adgrv1	A	G	13: 81,488,931	C3464R	probably benign	Het
Apbb1	A	T	7: 105,565,682		probably benign	Het
Cad	A	G	5: 31,055,021	T23A	probably benign	Het
Cdca7	A	G	2: 72,483,415	R183G	probably benign	Het
Cdpf1	T	C	15: 85,809,312	T5A	probably benign	Het
Cep85	T	C	4: 134,156,179	D133G	probably damaging	Het
Chrna9	T	C	5: 65,971,016	L189P	probably damaging	Het
Clca1	A	C	3: 145,007,928		probably null	Het
Cntn1	G	T	15: 92,242,995	V201F	probably damaging	Het
Col4a3	A	G	1: 82,666,546	E352G	unknown	Het
Ddhd2	T	C	8: 25,752,137	Y237C	probably damaging	Het
Dnah6	A	C	6: 73,037,622	F3609V	probably benign	Het
Epha3	T	C	16: 63,602,287	K580R	possibly damaging	Het
Fam135b	T	C	15: 71,462,711	N878S	probably benign	Het
Fam71e2	T	C	7: 4,758,661	N351D	probably benign	Het
Fbn1	T	G	2: 125,329,102	T1938P	probably damaging	Het
Foxg1	T	C	12: 49,385,186	V234A	probably damaging	Het
Glt1d1	A	T	5: 127,644,414	N55I	probably benign	Het
Gm17641	C	A	3: 68,869,474		probably benign	Het
Gm7665	A	G	18: 16,274,731		noncoding transcript	Het
Hgf	A	C	5: 16,614,894	N541T	probably benign	Het
Hipk2	G	A	6: 38,818,879	P152S	probably benign	Het
Jarid2	C	T	13: 44,906,565	L720F	probably damaging	Het
Kifc5b	A	G	17: 26,924,787	E511G	probably damaging	Het
Ldlr	G	A	9: 21,735,242	A235T	probably benign	Het
Lmln	A	G	16: 33,074,180	D231G	possibly damaging	Het
Lrp1	A	G	10: 127,567,495	C2070R	probably damaging	Het
Mbl1	A	G	14: 41,158,724	T190A	possibly damaging	Het
Mpdz	A	T	4: 81,381,697	S355T	probably benign	Het
Muc19	C	T	15: 91,888,138		noncoding transcript	Het
Mycbp2	A	C	14: 103,139,235		probably null	Het
Naa20	T	C	2: 145,915,842	S164P	probably damaging	Het
Nme4	A	T	17: 26,093,833		probably benign	Het
Npas2	A	T	1: 39,347,506	R619*	probably null	Het
Nudt19	G	A	7: 35,555,746	T20I	possibly damaging	Het
Olfr1224-ps1	T	A	2: 89,156,939	K79*	probably null	Het
Pitpnc1	A	G	11: 107,296,228	Y90H	possibly damaging	Het
Rcor2	A	G	19: 7,269,785	T6A	probably benign	Het
Rif1	T	A	2: 52,109,928	S1131R	probably damaging	Het
Rtkn	T	A	6: 83,150,991	D377E	probably benign	Het
Rtn4rl2	T	A	2: 84,872,502	N242I	probably damaging	Het
Sbno2	G	A	10: 80,062,188	L719F	probably benign	Het
Scn11a	G	T	9: 119,819,831	D55E	probably damaging	Het
Setd1b	T	A	5: 123,151,866	I632N	unknown	Het
Spaca6	A	G	17: 17,831,196	T45A	probably benign	Het
Srpk2	A	T	5: 23,524,392	D416E	possibly damaging	Het
Sspo	A	T	6: 48,466,955		probably null	Het
Sycp1	A	T	3: 102,845,054	I804N	probably benign	Het
Tdp2	G	A	13: 24,831,826	R32Q	probably benign	Het
Tgfbr3	A	G	5: 107,136,929	V618A	possibly damaging	Het
Tmc3	C	T	7: 83,609,118	P439S	probably benign	Het
Tnxb	A	T	17: 34,717,483	D2740V	probably damaging	Het
Tspyl4	A	G	10: 34,297,937	T142A	probably benign	Het
Ttn	T	C	2: 76,880,441		probably benign	Het
Tubgcp4	T	C	2: 121,173,580	L34P	probably damaging	Het
Tubgcp6	G	T	15: 89,099,545		probably benign	Het
Unc79	T	A	12: 103,112,703	V1690E	probably benign	Het
Vps4b	T	C	1: 106,796,418		probably null	Het
Wtap	A	G	17: 12,967,638	S341P	possibly damaging	Het
Wwc1	T	C	11: 35,883,345	T363A	probably benign	Het
Zbtb8a	G	A	4: 129,360,500	T67M	probably damaging	Het
Zfp865	T	C	7: 5,034,669		probably benign	Het

Other mutations in Olfr1447

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Olfr1447	APN	19	12901355	missense	probably benign	0.40
IGL01704:Olfr1447	APN	19	12901739	missense	probably benign	0.01
IGL01767:Olfr1447	APN	19	12901748	missense	probably benign	0.12
IGL01969:Olfr1447	APN	19	12901052	missense	possibly damaging	0.69
IGL02435:Olfr1447	APN	19	12901027	missense	probably damaging	1.00
IGL02666:Olfr1447	APN	19	12900857	missense	probably benign
IGL03034:Olfr1447	APN	19	12901757	missense	possibly damaging	0.94
IGL03221:Olfr1447	APN	19	12901541	missense	probably damaging	1.00
R0315:Olfr1447	UTSW	19	12901234	missense	possibly damaging	0.66
R0550:Olfr1447	UTSW	19	12901800	splice site	probably null
R0729:Olfr1447	UTSW	19	12900895	missense	probably damaging	0.97
R1381:Olfr1447	UTSW	19	12900956	missense	probably benign	0.00
R1669:Olfr1447	UTSW	19	12901288	missense	possibly damaging	0.79
R1775:Olfr1447	UTSW	19	12901235	missense	probably benign	0.02
R1918:Olfr1447	UTSW	19	12900851	makesense	probably null
R2377:Olfr1447	UTSW	19	12900853	missense	possibly damaging	0.45
R2406:Olfr1447	UTSW	19	12901627	missense	probably benign	0.11
R2471:Olfr1447	UTSW	19	12901315	missense	probably benign	0.00
R2484:Olfr1447	UTSW	19	12901641	missense	probably benign	0.06
R2656:Olfr1447	UTSW	19	12901666	missense	probably benign	0.37
R3888:Olfr1447	UTSW	19	12901133	missense	probably benign	0.00
R4250:Olfr1447	UTSW	19	12901004	missense	probably benign	0.09
R4545:Olfr1447	UTSW	19	12901268	nonsense	probably null
R4895:Olfr1447	UTSW	19	12900887	missense	probably damaging	1.00
R4956:Olfr1447	UTSW	19	12901599	missense	probably damaging	0.99
R4991:Olfr1447	UTSW	19	12901451	missense	probably damaging	0.98
R5165:Olfr1447	UTSW	19	12901200	missense	probably benign	0.00
R6025:Olfr1447	UTSW	19	12901670	missense	probably benign	0.10
R6135:Olfr1447	UTSW	19	12901439	missense	probably damaging	0.97
R6459:Olfr1447	UTSW	19	12901005	missense	possibly damaging	0.94
R6733:Olfr1447	UTSW	19	12901241	missense	probably damaging	1.00
R6789:Olfr1447	UTSW	19	12901289	missense	probably benign	0.21
R6923:Olfr1447	UTSW	19	12901312	missense	probably benign	0.04
R7310:Olfr1447	UTSW	19	12901273	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTAATTTAGTACAGGGAGGAGATCTG -3'
(R):5'- CTGCAATCATGGCTCTCACTTG -3'

Sequencing Primer
(F):5'- TTAGTACAGGGAGGAGATCTGAGAAG -3'
(R):5'- GGCTCTCACTTGTTTTGATAATCAAG -3'

Posted On

2016-06-15