Mutagenetix > Incidental Mutation

Incidental Mutation 'R1775:Olfr1447'

204378

Institutional Source

Beutler Lab

Gene Symbol

Olfr1447

Ensembl Gene

ENSMUSG00000060303

Gene Name

olfactory receptor 1447

Synonyms

GA_x6K02T2RE5P-3231251-3230331, MOR202-3

MMRRC Submission

039806-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R1775 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12899434-12903743 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 12901235 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 182 (V182F)

Ref Sequence

ENSEMBL: ENSMUSP00000149392 (fasta)

Gene Model

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

AlphaFold

Q8VFX3

Predicted Effect

probably benign
Transcript: ENSMUST00000071484
AA Change: V182F

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000071419
Gene: ENSMUSG00000060303
AA Change: V182F

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 benign
Transcript: ENSMUST00000216989
AA Change: V182F

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218013

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220222

Meta Mutation Damage Score

0.2476

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (95/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J04Rik	A	G	12: 11,222,142	S20P	unknown	Het
4921528I07Rik	G	A	9: 114,279,318		noncoding transcript	Het
4930562C15Rik	G	A	16: 4,851,558		probably null	Het
4933427I04Rik	A	G	4: 123,860,493	T67A	possibly damaging	Het
Abcc2	A	T	19: 43,798,419	N160Y	possibly damaging	Het
Acaca	A	G	11: 84,300,422	D155G	possibly damaging	Het
Afg3l1	G	A	8: 123,492,900	R389Q	possibly damaging	Het
Ank2	G	A	3: 126,934,547	T799M	probably benign	Het
Anxa2	T	C	9: 69,488,081	Y202H	possibly damaging	Het
Arhgef33	A	G	17: 80,373,743	T771A	probably benign	Het
Atp12a	T	C	14: 56,372,589	V182A	probably benign	Het
Birc6	T	C	17: 74,612,286	L210S	probably damaging	Het
Car3	A	G	3: 14,864,432	T73A	probably benign	Het
Cd5l	T	C	3: 87,368,659	L312P	probably damaging	Het
Celf5	A	G	10: 81,467,304		probably benign	Het
Cep290	T	A	10: 100,496,810	V257E	probably damaging	Het
Cntrob	T	C	11: 69,320,867	D177G	possibly damaging	Het
Copg2	A	T	6: 30,810,336	F658I	probably damaging	Het
Csmd3	T	C	15: 47,899,739	T1234A	probably damaging	Het
Dhx35	A	G	2: 158,806,437	T72A	probably damaging	Het
Dmrtc2	A	T	7: 24,874,367	H209L	possibly damaging	Het
Eml5	G	T	12: 98,852,704		probably null	Het
Evpl	T	C	11: 116,223,660	E1068G	possibly damaging	Het
Ezh2	A	G	6: 47,576,660	M41T	probably damaging	Het
Fmo3	A	G	1: 162,968,725	S93P	possibly damaging	Het
Gdi2	A	G	13: 3,560,018	Y213C	possibly damaging	Het
Gpr15	A	T	16: 58,718,558	I56K	probably benign	Het
Gria2	G	T	3: 80,691,338	S796R	probably benign	Het
Hectd4	T	A	5: 121,291,191		probably benign	Het
Hgfac	T	C	5: 35,042,850		probably benign	Het
Hspg2	C	T	4: 137,520,156	R1200W	probably damaging	Het
Ift52	G	A	2: 163,025,355	D78N	possibly damaging	Het
Iqca	C	A	1: 90,081,416	W415L	probably damaging	Het
Ism1	A	T	2: 139,746,043	K236N	probably damaging	Het
Itgb6	C	T	2: 60,672,644	W43*	probably null	Het
Kcnk18	T	A	19: 59,235,341	I306N	probably damaging	Het
Kctd8	T	C	5: 69,340,560	K248E	probably damaging	Het
Layn	T	A	9: 51,059,533	I237F	probably benign	Het
Lce3f	C	T	3: 92,992,941	P23L	unknown	Het
Lct	A	G	1: 128,300,301	F1152L	probably damaging	Het
Mxra8	T	C	4: 155,843,074	I413T	probably damaging	Het
Nedd9	A	G	13: 41,317,962	V187A	probably benign	Het
Net1	A	G	13: 3,887,642	L207P	probably damaging	Het
Neurod1	G	T	2: 79,454,437	P201T	probably benign	Het
Nlrp1b	A	G	11: 71,161,821	F927S	probably damaging	Het
Ntrk3	T	A	7: 78,356,041	H524L	possibly damaging	Het
Nup98	A	C	7: 102,134,937	S1063A	probably benign	Het
Olfr1036	G	A	2: 86,074,760	V7I	possibly damaging	Het
Olfr1333	T	A	4: 118,829,868	M191L	probably benign	Het
Olfr215	T	C	6: 116,582,964		probably benign	Het
Olfr657	G	A	7: 104,636,159	V162I	probably benign	Het
Olfr747	G	T	14: 50,681,166	P156Q	possibly damaging	Het
Pdzd2	G	A	15: 12,592,460	R33W	probably damaging	Het
Phf21a	G	A	2: 92,330,515	V243I	probably damaging	Het
Ppp1r12b	A	G	1: 134,893,348		probably null	Het
Rexo5	T	C	7: 119,845,411	V703A	probably benign	Het
Rgs4	A	G	1: 169,745,278	S30P	probably benign	Het
Rrnad1	A	G	3: 87,923,817	S404P	probably damaging	Het
Rxra	C	A	2: 27,756,244	D340E	probably damaging	Het
Samhd1	A	G	2: 157,107,547	V473A	probably benign	Het
Scn3a	T	A	2: 65,472,342	K1253N	probably damaging	Het
Scn7a	T	C	2: 66,680,955	N1207S	probably benign	Het
Sec24d	T	A	3: 123,336,517	I443N	probably damaging	Het
Sema4g	T	A	19: 44,999,242		probably null	Het
Sema5b	A	G	16: 35,660,324	K787R	probably benign	Het
Serpinc1	A	G	1: 160,989,647	N104D	probably benign	Het
Sfn	T	C	4: 133,601,231	H180R	probably damaging	Het
Slc22a6	G	T	19: 8,619,107		probably null	Het
Slc9a8	T	C	2: 167,457,358	S217P	probably benign	Het
Smc6	A	G	12: 11,309,269	N965D	probably benign	Het
Sod2	T	A	17: 13,015,032	I177N	probably damaging	Het
Sp4	A	T	12: 118,299,600	I237K	probably damaging	Het
Sulf2	T	C	2: 166,079,612	K697R	probably benign	Het
Svs4	A	T	2: 164,277,085	D110E	unknown	Het
Tas1r1	T	A	4: 152,038,218	R57*	probably null	Het
Tlr5	T	C	1: 182,973,722	I197T	probably damaging	Het
Tmc3	T	C	7: 83,612,532	V606A	probably benign	Het
Tmem241	T	A	18: 12,118,412	L37F	probably damaging	Het
Tmem59l	A	T	8: 70,486,253	N90K	probably damaging	Het
Tram1	A	C	1: 13,576,456		probably benign	Het
Trim15	T	A	17: 36,865,169	H162L	probably benign	Het
Ttc28	T	A	5: 111,276,811	Y1501N	probably benign	Het
Ttc34	T	C	4: 154,862,214	V857A	probably benign	Het
Tulp4	A	G	17: 6,139,046	T48A	probably damaging	Het
Usp9y	T	C	Y: 1,368,089	E939G	probably damaging	Het
Utp20	A	G	10: 88,770,808	I1634T	probably benign	Het
Vmn2r72	T	C	7: 85,738,170	M729V	probably benign	Het
Vps13c	C	T	9: 67,881,447	T334M	probably damaging	Het
Wnk4	C	G	11: 101,276,340		probably benign	Het
Xpo1	A	G	11: 23,271,193	N97D	probably benign	Het
Xpo4	A	T	14: 57,603,672	F518Y	probably benign	Het
Zfp668	C	T	7: 127,866,606	V469I	possibly damaging	Het
Zfp85	C	A	13: 67,749,704	C83F	probably damaging	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
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
R5044:Olfr1447	UTSW	19	12901001	missense	probably damaging	1.00
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
R8552:Olfr1447	UTSW	19	12901732	missense	probably damaging	0.98
R8699:Olfr1447	UTSW	19	12901464	missense	possibly damaging	0.59
R8735:Olfr1447	UTSW	19	12900910	missense	possibly damaging	0.85
R8955:Olfr1447	UTSW	19	12901214	missense	probably benign	0.01
R9626:Olfr1447	UTSW	19	12901236	missense	possibly damaging	0.88
R9631:Olfr1447	UTSW	19	12901138	missense	possibly damaging	0.69
R9694:Olfr1447	UTSW	19	12901657	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GCACAGGTGGATATAGCCTTG -3'
(R):5'- CTGTGGAGAACTATCTGTTGGCC -3'

Sequencing Primer
(F):5'- ATATAGCCTTGTGATGTCCTGAAGC -3'
(R):5'- CAATGGCCTATGATCGCTATGCAG -3'

Posted On

2014-06-23