Mutagenetix > Incidental Mutations

Incidental Mutation 'R4475:Olfr1412'

330509

Institutional Source

Beutler Lab

Gene Symbol

Olfr1412

Ensembl Gene

ENSMUSG00000046300

Gene Name

olfactory receptor 1412

Synonyms

GA_x6K02T2R7CC-81165686-81164721, MOR208-4

MMRRC Submission

041732-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R4475 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92585779-92591375 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92588579 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 83 (V83A)

Ref Sequence

ENSEMBL: ENSMUSP00000150943 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062964] [ENSMUST00000190505]

Predicted Effect

probably benign
Transcript: ENSMUST00000062964
AA Change: V83A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000060291
Gene: ENSMUSG00000046300
AA Change: V83A

Domain	Start	End	E-Value	Type
transmembrane domain	10	27	N/A	INTRINSIC
Pfam:7tm_4	38	314	7.8e-47	PFAM
Pfam:7tm_1	48	321	1.4e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190505
AA Change: V83A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204141

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

97% (38/39)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,040,395	T904A	probably damaging	Het
A630010A05Rik	T	A	16: 14,589,363	I52N	possibly damaging	Het
Adgra3	A	T	5: 50,001,898	Y337N	probably damaging	Het
Aga	T	C	8: 53,511,836	L11P	probably damaging	Het
Akap6	T	C	12: 53,141,643	F1947L	probably benign	Het
Atp6v1c1	T	C	15: 38,677,573	I114T	probably benign	Het
Dbh	T	A	2: 27,180,972		probably null	Het
Dgkh	T	C	14: 78,589,878	D858G	possibly damaging	Het
Dlx5	T	C	6: 6,881,663	Y75C	probably damaging	Het
Dnah8	T	C	17: 30,656,985	F529L	probably benign	Het
Epg5	A	C	18: 77,948,508	D140A	probably benign	Het
Esr2	C	T	12: 76,133,942	D402N	probably benign	Het
Hells	A	G	19: 38,945,529	T265A	probably damaging	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hspa8	T	A	9: 40,804,146		probably benign	Het
Ighm	A	G	12: 113,420,893		probably benign	Het
Nedd4	C	T	9: 72,671,239	R78*	probably null	Het
Nrxn1	G	T	17: 90,701,982	N388K	probably damaging	Het
Olfr418	T	C	1: 173,270,913	V246A	probably damaging	Het
Oprk1	T	A	1: 5,602,601	Y320*	probably null	Het
Parn	A	G	16: 13,664,685	S100P	probably benign	Het
Piezo2	A	G	18: 63,102,099	L809P	probably damaging	Het
Plek	C	T	11: 16,985,528		probably null	Het
Prg4	T	C	1: 150,454,859		probably benign	Het
Rrs1	T	C	1: 9,545,585	L21P	probably damaging	Het
Siah1b	G	A	X: 164,071,692	P131S	probably damaging	Het
Sim2	T	C	16: 94,125,791	S625P	probably benign	Het
Smpd5	T	C	15: 76,294,726	L98P	probably damaging	Het
Srpr	A	G	9: 35,212,859	K34E	possibly damaging	Het
Tbc1d2	A	G	4: 46,609,080	V719A	possibly damaging	Het
Tmem52b	C	T	6: 129,514,256	H37Y	probably benign	Het
Tnip1	A	G	11: 54,939,596		probably null	Het
Trim3	A	G	7: 105,617,802	Y457H	probably damaging	Het
Usp34	T	C	11: 23,457,975	I2600T	possibly damaging	Het
Vmn2r-ps159	T	G	4: 156,338,790		noncoding transcript	Het
Zfp365	C	A	10: 67,888,920	K379N	possibly damaging	Het

Other mutations in Olfr1412

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Olfr1412	APN	1	92588972	missense	possibly damaging	0.52
IGL02177:Olfr1412	APN	1	92588757	missense	possibly damaging	0.96
IGL02507:Olfr1412	APN	1	92588926	missense	possibly damaging	0.68
IGL02888:Olfr1412	APN	1	92589203	missense	probably damaging	1.00
IGL03001:Olfr1412	APN	1	92588551	missense	probably damaging	1.00
R1771:Olfr1412	UTSW	1	92589115	missense	probably benign	0.03
R1780:Olfr1412	UTSW	1	92588389	missense	probably benign	0.01
R2215:Olfr1412	UTSW	1	92588986	missense	probably benign	0.00
R2437:Olfr1412	UTSW	1	92588966	missense	possibly damaging	0.46
R3176:Olfr1412	UTSW	1	92588813	missense	probably benign	0.32
R3177:Olfr1412	UTSW	1	92588813	missense	probably benign	0.32
R3276:Olfr1412	UTSW	1	92588813	missense	probably benign	0.32
R3277:Olfr1412	UTSW	1	92588813	missense	probably benign	0.32
R4892:Olfr1412	UTSW	1	92588921	missense	probably benign	0.05
R5910:Olfr1412	UTSW	1	92588707	missense	probably damaging	1.00
R6808:Olfr1412	UTSW	1	92589046	missense	probably damaging	0.99
R7130:Olfr1412	UTSW	1	92588912	missense	probably benign	0.10
R7476:Olfr1412	UTSW	1	92589264	missense	probably benign
Z1088:Olfr1412	UTSW	1	92588551	missense	probably damaging	1.00
Z1177:Olfr1412	UTSW	1	92588378	nonsense	probably null

Predicted Primers

Posted On

2015-07-21