Mutagenetix > Incidental Mutations

Incidental Mutation 'R4991:Olfr1447'

386230

Institutional Source

Beutler Lab

Gene Symbol

Olfr1447

Ensembl Gene

ENSMUSG00000060303

Gene Name

olfactory receptor 1447

Synonyms

GA_x6K02T2RE5P-3231251-3230331, MOR202-3

MMRRC Submission

042585-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4991 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12899434-12903743 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 12901451 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 110 (T110P)

Ref Sequence

ENSEMBL: ENSMUSP00000149392 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000071484
AA Change: T110P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071419
Gene: ENSMUSG00000060303
AA Change: T110P

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

silent
Transcript: ENSMUST00000208343

Predicted Effect

probably damaging
Transcript: ENSMUST00000216989
AA Change: T110P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218013

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220222

Meta Mutation Damage Score

0.1624

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.0%

Validation Efficiency

95% (73/77)

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
Adcy4	G	T	14: 55,773,465	T665K	probably benign	Het
Adgrf3	C	T	5: 30,199,148	V369M	probably benign	Het
Als2	T	C	1: 59,207,768	K571E	probably benign	Het
Amer3	A	C	1: 34,588,741	D687A	probably benign	Het
Asb14	T	C	14: 26,915,058	S586P	probably damaging	Het
Chmp4b	A	G	2: 154,692,625	E187G	probably benign	Het
Cox6b2	T	C	7: 4,752,161	D38G	probably damaging	Het
Cpm	G	A	10: 117,668,103	C138Y	probably damaging	Het
Csmd3	G	T	15: 48,001,478	P785Q	probably damaging	Het
Cstf1	A	G	2: 172,377,800	Y277C	probably damaging	Het
Cstf2t	T	A	19: 31,084,583	N506K	probably damaging	Het
Dmpk	C	G	7: 19,088,019	L301V	probably benign	Het
Ebf2	A	T	14: 67,389,657	T265S	possibly damaging	Het
Elmo1	T	C	13: 20,342,519	F413S	probably damaging	Het
Fbp1	C	T	13: 62,865,074	V102I	probably benign	Het
Gm13212	C	A	4: 145,622,334	Q114K	probably benign	Het
Gm14548	T	G	7: 3,895,572	Q292H	probably benign	Het
Gm16432	A	C	1: 178,098,421	I218L	probably benign	Het
Gm19684	A	G	17: 36,127,472		probably benign	Het
Gm29106	T	C	1: 118,178,391	M37T	probably benign	Het
Grem2	A	G	1: 174,836,813	C157R	probably damaging	Het
Hdac5	T	A	11: 102,205,624	E252D	probably damaging	Het
Ifitm3	A	T	7: 141,010,459	F63I	probably damaging	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Irx4	G	T	13: 73,265,507	R32L	probably benign	Het
Itgb1bp1	C	T	12: 21,274,848	G69D	probably damaging	Het
Kcnh3	A	G	15: 99,232,756	D418G	probably benign	Het
Kif1a	T	C	1: 93,078,808	T46A	probably benign	Het
Klk1b26	T	A	7: 44,016,249		probably null	Het
Lca5l	T	C	16: 96,159,732	E510G	possibly damaging	Het
Lrriq1	A	G	10: 103,200,559	I911T	probably damaging	Het
Mios	T	G	6: 8,215,847	S348A	probably benign	Het
Mog	T	C	17: 37,017,489		probably null	Het
Mtmr7	A	G	8: 40,554,345	S516P	probably damaging	Het
Nat8f4	T	C	6: 85,901,140	K134E	probably benign	Het
Nbeal2	C	T	9: 110,638,767	C451Y	probably damaging	Het
Nkx2-1	T	C	12: 56,534,939	Y41C	possibly damaging	Het
Nmnat1	G	A	4: 149,469,127	T176M	possibly damaging	Het
Nrxn3	T	A	12: 89,260,474	I293N	probably damaging	Het
Olfr1031	A	G	2: 85,992,287	M157V	probably damaging	Het
Olfr313	T	C	11: 58,817,718	S237P	probably damaging	Het
Osgin1	A	G	8: 119,445,289	E274G	probably damaging	Het
Otof	G	A	5: 30,394,181	R343W	probably damaging	Het
Pcdha9	A	T	18: 36,998,345	I156F	probably damaging	Het
Pcsk4	A	G	10: 80,325,381	I233T	possibly damaging	Het
Samd4	A	T	14: 47,074,010	S262C	probably damaging	Het
Snap91	T	C	9: 86,790,154		probably null	Het
Spata31d1a	T	C	13: 59,703,151	N388D	probably benign	Het
St3gal4	A	G	9: 35,053,136	V190A	possibly damaging	Het
Sv2b	T	C	7: 75,117,722	N642S	possibly damaging	Het
Svil	T	A	18: 5,056,810	I561K	probably benign	Het
Tmem201	A	T	4: 149,728,155	Y235N	possibly damaging	Het
Tpx2	T	C	2: 152,869,724	S60P	probably benign	Het
Trpa1	T	C	1: 14,910,746	Y144C	probably benign	Het
U90926	G	A	5: 92,210,020	P91S	probably benign	Het
Utp20	G	T	10: 88,746,934	H2780Q	probably benign	Het
Vmn1r215	T	G	13: 23,076,527	F246V	probably damaging	Het
Vmn2r72	A	G	7: 85,751,130	L237S	probably damaging	Het
Washc5	A	G	15: 59,344,080	S817P	probably damaging	Het
Zbtb24	A	G	10: 41,456,618		probably null	Het
Zfp212	G	A	6: 47,926,862	R127H	probably damaging	Het
Zfp740	G	T	15: 102,208,279		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- GATCACATTGGACTTGCAGAAGG -3'
(R):5'- AAACCTAGGGATGATCCTGCTG -3'

Sequencing Primer
(F):5'- GAGAGAGTGAATATGTCTGCAATATG -3'
(R):5'- ATGATCCTGCTGATTGTCCTGGAC -3'

Posted On

2016-05-10