Mutagenetix > Incidental Mutation

Incidental Mutation 'R6274:Olfr1451'

507555

Institutional Source

Beutler Lab

Gene Symbol

Olfr1451

Ensembl Gene

ENSMUSG00000046913

Gene Name

olfactory receptor 1451

Synonyms

GA_x6K02T2RE5P-3328502-3329434, MOR202-1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R6274 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12995014-13000417 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12999870 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 295 (V295I)

Ref Sequence

ENSEMBL: ENSMUSP00000146874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063144] [ENSMUST00000207997]

AlphaFold

Q8VFX5

Predicted Effect

probably damaging
Transcript: ENSMUST00000063144
AA Change: V295I

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000049885
Gene: ENSMUSG00000046913
AA Change: V295I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2e-51	PFAM
Pfam:7TM_GPCR_Srsx	33	303	2.2e-5	PFAM
Pfam:7tm_1	39	289	6.9e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000207997
AA Change: V295I

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

100% (56/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Ano1	A	T	7: 144,618,863	S528T	probably benign	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Bcl2l10	T	C	9: 75,351,072	I172T	possibly damaging	Het
Bpifb3	A	T	2: 153,929,323	N385I	possibly damaging	Het
Bsnd	A	G	4: 106,486,635	V158A	probably damaging	Het
Cacna1s	A	G	1: 136,089,045	N481S	probably benign	Het
Cdk5rap1	A	G	2: 154,368,241	V138A	probably damaging	Het
Cep290	A	G	10: 100,530,207	E1099G	probably damaging	Het
Cers1	T	A	8: 70,331,077	L225Q	probably damaging	Het
Cfb	T	C	17: 34,862,093	Q7R	probably benign	Het
Clk4	A	G	11: 51,271,921	S98G	possibly damaging	Het
Clock	A	G	5: 76,237,153	S406P	probably benign	Het
Csmd3	T	C	15: 47,621,437	I3178V	probably benign	Het
Dock10	A	G	1: 80,538,823	S1397P	probably damaging	Het
Fer1l4	A	G	2: 156,029,268	L1421P	probably damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Greb1	G	T	12: 16,735,151	T91K	probably damaging	Het
Grid2ip	G	A	5: 143,380,429	S379N	probably damaging	Het
Gucy1b2	A	T	14: 62,415,939	C336S	probably damaging	Het
Hdac1	A	G	4: 129,519,109	C261R	probably damaging	Het
Hrasls5	C	T	19: 7,637,466	T231I	probably damaging	Het
Htt	T	C	5: 34,852,087	S1471P	possibly damaging	Het
Ice1	A	G	13: 70,594,839	V2134A	probably damaging	Het
Ikzf1	C	T	11: 11,768,961	Q310*	probably null	Het
Il3ra	G	A	14: 14,350,180	V112I	probably benign	Het
Kif21b	A	G	1: 136,149,418	I393V	possibly damaging	Het
Krt74	T	C	15: 101,763,437		noncoding transcript	Het
Krtap29-1	T	C	11: 99,978,983	N24S	probably null	Het
Mut	T	C	17: 40,956,245	V570A	probably benign	Het
Myh7	T	C	14: 54,979,486	D1138G	probably damaging	Het
Nktr	T	C	9: 121,731,565	I125T	probably damaging	Het
Nlrp2	A	T	7: 5,317,555	L861Q	probably damaging	Het
Notch3	C	A	17: 32,147,290	R990L	probably benign	Het
Nrap	T	C	19: 56,361,721	D655G	probably benign	Het
Olfr1329	A	T	4: 118,917,230	V79E	probably benign	Het
Osbpl11	T	A	16: 33,227,056	I463N	probably damaging	Het
Pcsk6	A	T	7: 66,033,844	R749W	probably damaging	Het
Plxnb1	T	C	9: 109,112,141		probably null	Het
Polr1a	T	A	6: 71,954,890		probably null	Het
Ppm1g	T	C	5: 31,206,406	I153V	probably damaging	Het
Ppp1r12a	T	C	10: 108,260,890	S191P	probably benign	Het
Prodh	T	C	16: 18,081,058	K178E	possibly damaging	Het
Rilpl2	A	G	5: 124,469,848	V103A	possibly damaging	Het
Sap18b	C	T	8: 95,825,541	H60Y	probably benign	Het
Sclt1	A	G	3: 41,629,516		probably null	Het
Serpinb1a	G	T	13: 32,842,866	H364Q	probably damaging	Het
Sez6l	G	A	5: 112,475,365	Q107*	probably null	Het
Sipa1l2	C	T	8: 125,469,872	V708I	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Uaca	T	A	9: 60,850,291		probably null	Het
Uqcrc1	C	A	9: 108,942,156	H95N	probably damaging	Het
Usp9y	C	T	Y: 1,316,735	R1938H	probably damaging	Homo
Wnk4	C	T	11: 101,265,431	R42W	probably damaging	Het
Zfp326	T	A	5: 105,905,980	L242Q	probably damaging	Het

Other mutations in Olfr1451

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Olfr1451	APN	19	12999319	missense	probably damaging	1.00
IGL01301:Olfr1451	APN	19	12999417	missense	probably damaging	0.99
IGL01369:Olfr1451	APN	19	12999761	missense	possibly damaging	0.78
IGL02098:Olfr1451	APN	19	12999573	missense	probably benign	0.00
IGL02106:Olfr1451	APN	19	12999565	missense	possibly damaging	0.80
IGL02369:Olfr1451	APN	19	12999708	missense	probably damaging	1.00
ANU18:Olfr1451	UTSW	19	12999417	missense	probably damaging	0.99
R0316:Olfr1451	UTSW	19	12999402	missense	probably damaging	1.00
R0926:Olfr1451	UTSW	19	12999190	missense	probably damaging	1.00
R0988:Olfr1451	UTSW	19	12999787	missense	probably benign	0.39
R1268:Olfr1451	UTSW	19	12999261	missense	possibly damaging	0.80
R1509:Olfr1451	UTSW	19	12999451	missense	possibly damaging	0.54
R1991:Olfr1451	UTSW	19	12999502	missense	possibly damaging	0.60
R2103:Olfr1451	UTSW	19	12999502	missense	possibly damaging	0.60
R2132:Olfr1451	UTSW	19	12999038	missense	probably benign	0.21
R2206:Olfr1451	UTSW	19	12999040	missense	probably benign	0.06
R3687:Olfr1451	UTSW	19	12999102	missense	probably damaging	1.00
R4077:Olfr1451	UTSW	19	12999871	missense	probably damaging	1.00
R4803:Olfr1451	UTSW	19	12999169	missense	probably damaging	1.00
R4948:Olfr1451	UTSW	19	12999831	missense	probably benign	0.06
R4999:Olfr1451	UTSW	19	12999219	missense	probably benign	0.03
R6843:Olfr1451	UTSW	19	12998998	missense	probably benign	0.09
R6928:Olfr1451	UTSW	19	12999838	missense	probably damaging	0.99
R6941:Olfr1451	UTSW	19	12999497	missense	possibly damaging	0.86
R7485:Olfr1451	UTSW	19	12999558	missense	probably benign	0.03
R7611:Olfr1451	UTSW	19	12999067	missense	possibly damaging	0.93
R7823:Olfr1451	UTSW	19	12999417	missense	probably damaging	0.99
R8948:Olfr1451	UTSW	19	12999081	missense	probably damaging	1.00
R8950:Olfr1451	UTSW	19	12999081	missense	probably damaging	1.00
R8970:Olfr1451	UTSW	19	12998989	start codon destroyed	probably null	1.00
R9155:Olfr1451	UTSW	19	12999064	missense	probably benign	0.00
R9236:Olfr1451	UTSW	19	12999399	missense	probably damaging	0.99
R9556:Olfr1451	UTSW	19	12999574	missense	probably benign	0.12
R9563:Olfr1451	UTSW	19	12999619	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AAGCTTTGTCCACCTGTGCC -3'
(R):5'- GGTATGACAAGTAAATCCCGGAAATTC -3'

Sequencing Primer
(F):5'- GTGCCTCCCACCTCACTGTAG -3'
(R):5'- CGGAAATTCTTAAAATTTTCCTTGGC -3'

Posted On

2018-03-15