Mutagenetix > Incidental Mutation

Incidental Mutation 'R0285:Olfr1419'

24709

Institutional Source

Beutler Lab

Gene Symbol

Olfr1419

Ensembl Gene

ENSMUSG00000067545

Gene Name

olfactory receptor 1419

Synonyms

MOR266-10, GA_x6K02T2RE5P-2222521-2221490

MMRRC Submission

038506-MU

Accession Numbers

Essential gene?

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

Stock #

R0285 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11868613-11875106 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11871138 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 26 (L26P)

Ref Sequence

ENSEMBL: ENSMUSP00000148848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087857] [ENSMUST00000213954] [ENSMUST00000217617]

AlphaFold

Q7TQS2

Predicted Effect

probably damaging
Transcript: ENSMUST00000087857
AA Change: L26P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000085163
Gene: ENSMUSG00000067545
AA Change: L26P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	309	3.8e-55	PFAM
Pfam:7tm_1	41	291	2.8e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213954
AA Change: L26P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217617
AA Change: L26P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.1%
20x: 92.9%

Validation Efficiency

99% (80/81)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	G	A	18: 57,533,865	G5S	probably damaging	Het
Acy3	A	G	19: 3,988,193	E162G	probably benign	Het
Angptl1	T	C	1: 156,845,215	S204P	probably benign	Het
Atf6b	C	T	17: 34,650,396		probably benign	Het
Card11	G	A	5: 140,887,101	S619F	probably damaging	Het
Ccl11	G	A	11: 82,062,258	V81I	probably damaging	Het
Cds1	T	C	5: 101,797,038	I126T	probably damaging	Het
Chd1	A	G	17: 17,374,680		probably benign	Het
Cndp1	C	A	18: 84,618,238	V384F	possibly damaging	Het
Cuta	A	G	17: 26,939,449		probably null	Het
Diaph3	G	A	14: 87,115,024	T47I	possibly damaging	Het
Dopey1	A	T	9: 86,512,639	S598C	probably damaging	Het
Dsp	A	G	13: 38,172,794	M217V	probably benign	Het
Esyt1	T	A	10: 128,512,218	I898F	possibly damaging	Het
Fam189a2	G	A	19: 23,979,385		probably benign	Het
Fam205a1	G	A	4: 42,850,236	T640M	probably benign	Het
Fam84b	T	C	15: 60,822,967	H310R	probably benign	Het
Fgd3	A	T	13: 49,263,948	W680R	possibly damaging	Het
Folh1	A	G	7: 86,742,165		probably benign	Het
Fuk	G	C	8: 110,893,717	H235Q	probably benign	Het
Gadl1	C	A	9: 116,030,738		probably benign	Het
Garem1	A	G	18: 21,129,612	M715T	probably benign	Het
Gpd2	A	T	2: 57,338,955	D257V	probably benign	Het
Hdac7	A	G	15: 97,798,222		probably null	Het
Heatr5b	A	G	17: 78,808,453	M858T	probably benign	Het
Inpp4b	A	T	8: 82,034,516		probably benign	Het
Iqgap3	G	T	3: 88,096,990	C461F	probably benign	Het
Lamb1	C	A	12: 31,326,645	C559*	probably null	Het
Lrrc31	T	C	3: 30,684,948	N308S	probably benign	Het
Ly75	T	C	2: 60,318,319	Y1222C	probably damaging	Het
Map3k10	C	A	7: 27,673,900	R42L	probably benign	Het
Meioc	A	G	11: 102,672,191	T72A	probably benign	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Mmp11	T	C	10: 75,925,668	Y366C	probably damaging	Het
N4bp2	T	A	5: 65,806,559	D650E	probably benign	Het
Ncoa6	T	C	2: 155,415,701	M641V	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,408,291		probably null	Het
Nol4l	G	A	2: 153,483,853		probably benign	Het
Notch1	T	G	2: 26,460,861	D2089A	possibly damaging	Het
Olfr1156	A	G	2: 87,950,131	I34T	probably damaging	Het
Olfr1449	A	T	19: 12,935,172	M145L	probably benign	Het
Olfr155	G	A	4: 43,854,398	V30M	possibly damaging	Het
Olfr493	A	G	7: 108,346,499	S161P	probably benign	Het
Olfr649	A	T	7: 104,189,324	Y294*	probably null	Het
Olfr930	T	A	9: 38,930,774	I201N	possibly damaging	Het
Otof	C	T	5: 30,379,533		probably null	Het
Paox	T	C	7: 140,129,140	F324L	probably damaging	Het
Pycr1	A	T	11: 120,640,316	I277N	probably benign	Het
R3hcc1l	A	T	19: 42,576,129	H627L	probably damaging	Het
Rab21	G	A	10: 115,290,863	S193L	probably benign	Het
Ralgds	T	G	2: 28,550,569		probably null	Het
Rbm42	A	G	7: 30,645,840	S169P	possibly damaging	Het
Rfpl4	A	G	7: 5,110,378	V262A	probably benign	Het
Rhobtb3	A	G	13: 75,877,509	I496T	possibly damaging	Het
Rnf31	G	A	14: 55,601,389	A901T	probably damaging	Het
Ryr2	T	C	13: 11,716,977	D2359G	probably damaging	Het
Sgo2b	A	C	8: 63,928,789	Y336*	probably null	Het
Slc16a7	T	A	10: 125,294,631	I62L	probably benign	Het
Slc22a21	A	T	11: 53,959,196		probably benign	Het
Slc25a21	A	G	12: 56,858,025		probably null	Het
Slc5a4b	T	C	10: 76,062,283	I532M	probably damaging	Het
Srrm4	C	A	5: 116,467,789		probably benign	Het
Stxbp1	C	A	2: 32,823,542	E27D	probably benign	Het
Sult2a5	T	A	7: 13,628,760	Y131N	probably damaging	Het
Svopl	T	C	6: 37,984,522	Q492R	probably benign	Het
Tmem144	G	A	3: 79,839,273		probably benign	Het
Tmem87a	A	G	2: 120,394,424	S119P	probably benign	Het
Tmprss11c	A	G	5: 86,271,430	L90P	probably damaging	Het
Tmprss6	T	A	15: 78,452,868	D346V	probably damaging	Het
Ubr4	A	C	4: 139,440,801	S2820R	probably damaging	Het
Usp4	T	C	9: 108,378,564	V607A	probably benign	Het
Usp45	A	G	4: 21,798,603		probably null	Het
Vill	C	T	9: 119,070,827		probably benign	Het
Vmn1r13	C	A	6: 57,209,994	T46N	probably benign	Het
Vmn2r107	A	G	17: 20,345,611	T63A	probably benign	Het
Vmn2r82	T	A	10: 79,396,557	W797R	probably damaging	Het
Washc2	T	A	6: 116,221,839	D287E	probably damaging	Het
Xpc	G	A	6: 91,498,064	L660F	probably damaging	Het

Other mutations in Olfr1419

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01845:Olfr1419	APN	19	11870524	missense	probably benign	0.05
IGL01979:Olfr1419	APN	19	11871223	splice site	probably benign
IGL02961:Olfr1419	APN	19	11870331	missense	probably damaging	1.00
R0347:Olfr1419	UTSW	19	11870433	missense	probably damaging	1.00
R1577:Olfr1419	UTSW	19	11870377	missense	probably damaging	1.00
R2391:Olfr1419	UTSW	19	11870816	nonsense	probably null
R3977:Olfr1419	UTSW	19	11870505	missense	possibly damaging	0.82
R4660:Olfr1419	UTSW	19	11871048	missense	possibly damaging	0.64
R5201:Olfr1419	UTSW	19	11870631	missense	probably benign	0.21
R5995:Olfr1419	UTSW	19	11870862	missense	possibly damaging	0.89
R6393:Olfr1419	UTSW	19	11870727	missense	probably damaging	1.00
R7466:Olfr1419	UTSW	19	11870316	missense	possibly damaging	0.94
R7828:Olfr1419	UTSW	19	11870805	missense	probably damaging	1.00
R8400:Olfr1419	UTSW	19	11871214	start codon destroyed	probably damaging	0.96
R9644:Olfr1419	UTSW	19	11871210	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCTGGGCAGAGAGATAAGCATCTTC -3'
(R):5'- TGATCAGGAACGACATGGACAACAC -3'

Sequencing Primer
(F):5'- TAGCCAAGCTCTAATGTGGC -3'
(R):5'- cttgctcaattttcaccaacac -3'

Posted On

2013-04-16