Mutagenetix > Incidental Mutations

Incidental Mutation 'R4592:Olfr1420'

342929

Institutional Source

Beutler Lab

Gene Symbol

Olfr1420

Ensembl Gene

ENSMUSG00000060878

Gene Name

olfactory receptor 1420

Synonyms

MOR266-4, GA_x6K02T2RE5P-2247227-2248156

MMRRC Submission

041808-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R4592 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11886565-11898079 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11896762 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 247 (V247A)

Ref Sequence

ENSEMBL: ENSMUSP00000149208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072784] [ENSMUST00000217281]

Predicted Effect

probably benign
Transcript: ENSMUST00000072784
AA Change: V247A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072563
Gene: ENSMUSG00000060878
AA Change: V247A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5.3e-54	PFAM
Pfam:7tm_1	41	291	3.4e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215766

Predicted Effect

probably benign
Transcript: ENSMUST00000217281
AA Change: V247A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	G	11: 97,771,615	S144P	probably damaging	Het
4933430I17Rik	T	A	4: 62,538,927	V161E	possibly damaging	Het
Arhgap40	T	C	2: 158,546,709	V521A	possibly damaging	Het
Atrn	T	C	2: 130,999,130		probably benign	Het
Casp12	T	C	9: 5,352,923		probably benign	Het
Ccdc189	C	T	7: 127,585,491	R172H	probably benign	Het
Cenpf	G	A	1: 189,679,033	T318M	probably damaging	Het
Clcn2	T	C	16: 20,709,142	K525E	probably damaging	Het
Cntln	A	G	4: 84,971,182	T301A	probably benign	Het
Crat	T	C	2: 30,415,366		probably benign	Het
Cul5	A	G	9: 53,633,727		probably benign	Het
Cxcl14	A	T	13: 56,295,895	I34N	probably damaging	Het
Cyp2b19	A	G	7: 26,771,394	I487V	probably benign	Het
Cyp4a10	T	A	4: 115,529,493	F446I	probably damaging	Het
D430041D05Rik	T	A	2: 104,233,479	M659L	possibly damaging	Het
Dclk3	T	C	9: 111,467,895	F169S	probably damaging	Het
Ddx52	T	C	11: 83,957,480	I532T	probably damaging	Het
Dnm1	T	C	2: 32,336,011	D352G	probably damaging	Het
Eif4g2	T	C	7: 111,078,302	E174G	probably damaging	Het
Enpp6	G	T	8: 47,093,032	V386L	probably damaging	Het
Eps15l1	T	C	8: 72,341,394	D904G	probably damaging	Het
Esrrb	A	G	12: 86,518,830	Y356C	probably damaging	Het
Flt3	A	T	5: 147,354,699	S619T	possibly damaging	Het
Fndc7	A	T	3: 108,858,902	C716S	probably damaging	Het
Gm10125	T	C	18: 5,525,375		noncoding transcript	Het
Gm26996	T	A	6: 130,579,485		noncoding transcript	Het
Grik2	A	T	10: 49,422,615	F50I	possibly damaging	Het
Guf1	T	C	5: 69,566,443	V367A	possibly damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Ifnar2	T	C	16: 91,391,796	V55A	probably benign	Het
Impg1	T	A	9: 80,440,854	I33F	probably benign	Het
Ltbp4	A	C	7: 27,325,183	V674G	probably damaging	Het
Mroh2b	T	A	15: 4,918,290	L529H	probably damaging	Het
Negr1	T	C	3: 157,208,386		probably benign	Het
Neurog3	A	G	10: 62,133,820	T25A	probably damaging	Het
Olfr1241	T	A	2: 89,482,756	K126N	probably damaging	Het
Olfr181	T	C	16: 58,926,092	T160A	probably benign	Het
Olfr555	A	C	7: 102,659,478	Y219S	probably damaging	Het
Pax8	T	A	2: 24,443,189		probably benign	Het
Pcsk6	A	C	7: 65,931,732	I254L	possibly damaging	Het
Pde3a	A	G	6: 141,459,216	K389R	probably benign	Het
Rab3gap1	C	A	1: 127,925,259		probably benign	Het
Rbck1	G	A	2: 152,318,733	Q428*	probably null	Het
Rptor	A	G	11: 119,798,840	D321G	probably null	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Sdccag3	C	A	2: 26,388,897		probably benign	Het
Skp1a	T	C	11: 52,243,619	I59T	possibly damaging	Het
Slc23a3	T	G	1: 75,128,556	N456T	probably damaging	Het
Slc4a7	G	A	14: 14,778,850	G920S	probably damaging	Het
Smarcd3	T	C	5: 24,592,804	I467V	probably benign	Het
Spata31d1c	C	T	13: 65,036,060	A472V	probably damaging	Het
Srsf6	T	C	2: 162,931,723	I18T	probably damaging	Het
Stom	C	T	2: 35,323,746	G80D	probably damaging	Het
Svep1	A	T	4: 58,084,028	Y1915N	possibly damaging	Het
Tmf1	C	T	6: 97,173,400	V449I	probably benign	Het
Triobp	C	T	15: 78,967,095	A483V	probably benign	Het
Vdac1	G	A	11: 52,374,972		probably null	Het
Vmn2r75	T	G	7: 86,166,286	E123D	probably benign	Het
Vmn2r79	T	A	7: 87,004,111	V528D	possibly damaging	Het
Zdbf2	T	G	1: 63,306,591	N1376K	possibly damaging	Het

Other mutations in Olfr1420

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02419:Olfr1420	APN	19	11896822	missense	probably benign	0.06
IGL02703:Olfr1420	APN	19	11896242	missense	possibly damaging	0.96
IGL02948:Olfr1420	APN	19	11896781	nonsense	probably null
R1514:Olfr1420	UTSW	19	11896614	missense	probably benign
R1539:Olfr1420	UTSW	19	11896491	missense	possibly damaging	0.88
R1852:Olfr1420	UTSW	19	11896885	missense	probably damaging	1.00
R1903:Olfr1420	UTSW	19	11896549	missense	probably benign	0.24
R2061:Olfr1420	UTSW	19	11896557	missense	probably damaging	0.98
R3768:Olfr1420	UTSW	19	11896312	missense	probably damaging	0.99
R3977:Olfr1420	UTSW	19	11896516	missense	probably damaging	1.00
R4479:Olfr1420	UTSW	19	11896558	missense	probably damaging	0.99
R5934:Olfr1420	UTSW	19	11896929	missense	probably benign
R6058:Olfr1420	UTSW	19	11896024	start codon destroyed	probably null	1.00
R6536:Olfr1420	UTSW	19	11896396	missense	probably benign	0.05
R7752:Olfr1420	UTSW	19	11896534	missense	probably benign	0.01
R7901:Olfr1420	UTSW	19	11896534	missense	probably benign	0.01
R8250:Olfr1420	UTSW	19	11896377	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCATTCTGCCACAACAATG -3'
(R):5'- CAATGCCTTCCTCAGAGCATC -3'

Sequencing Primer
(F):5'- GTGACATGCCTGCAGTCATAC -3'
(R):5'- AATGCCTTCCTCAGAGCATCTTTTAG -3'

Posted On

2015-09-24