Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01613:Olfr830'

92283

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr830

Ensembl Gene

ENSMUSG00000062868

Gene Name

olfactory receptor 830

Synonyms

GA_x6K02T2PVTD-12618399-12619337, MOR152-1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

IGL01613

Quality Score

Status

Chromosome

Chromosomal Location

18874693-18878369 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 18875321 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078861] [ENSMUST00000212723]

Predicted Effect

probably benign
Transcript: ENSMUST00000078861

SMART Domains

Protein: ENSMUSP00000077903
Gene: ENSMUSG00000062868

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	1.8e-51	PFAM
Pfam:7tm_1	44	293	1.6e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212723

Coding Region Coverage

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	G	5: 125,512,652	M446R	possibly damaging	Het
Abca16	A	G	7: 120,541,277	N1599S	probably benign	Het
Ankib1	G	A	5: 3,713,146	Q528*	probably null	Het
Ano10	A	T	9: 122,259,540	L347M	possibly damaging	Het
Bag6	T	C	17: 35,143,016		probably benign	Het
Bpnt1	T	C	1: 185,353,994	V182A	possibly damaging	Het
Capn13	G	T	17: 73,331,058	T450N	probably benign	Het
Cbr3	A	T	16: 93,683,443	E40V	probably benign	Het
Cdk10	T	C	8: 123,228,387	I159T	probably damaging	Het
Cela3b	T	C	4: 137,425,071	D65G	possibly damaging	Het
Csf2rb	T	G	15: 78,335,302		probably benign	Het
Cyp2b19	C	T	7: 26,763,461	T256I	possibly damaging	Het
Dpp9	T	C	17: 56,190,713	H687R	probably benign	Het
Elovl1	T	C	4: 118,431,270	V108A	probably benign	Het
Emb	T	A	13: 117,272,078	N318K	probably damaging	Het
Ermp1	A	G	19: 29,639,939	L36P	probably damaging	Het
Esco2	T	G	14: 65,826,595	H380P	possibly damaging	Het
Gm5724	G	T	6: 141,713,214	T552K	possibly damaging	Het
Gm9747	G	A	1: 82,234,088		probably benign	Het
Golga1	A	G	2: 39,020,126	M603T	probably benign	Het
Hsph1	A	G	5: 149,627,278	V411A	probably benign	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Ints11	T	C	4: 155,885,198		probably null	Het
Jakmip1	G	T	5: 37,100,768	A253S	probably damaging	Het
Met	A	G	6: 17,540,577	Y834C	probably damaging	Het
Mgl2	A	G	11: 70,134,158	T2A	probably benign	Het
Myh2	G	T	11: 67,197,344	V1929L	probably benign	Het
Myh8	T	C	11: 67,301,710	S1472P	probably benign	Het
Myo1e	T	C	9: 70,341,273		probably benign	Het
Ndufaf7	A	G	17: 78,937,502	I17V	probably benign	Het
Olfr1046	T	G	2: 86,217,161	D183A	probably damaging	Het
Olfr1256	T	C	2: 89,835,808	T46A	probably damaging	Het
Olfr193	A	T	16: 59,109,921	S230T	probably damaging	Het
Olfr804	A	G	10: 129,705,623	I248M	probably benign	Het
Olfr914	A	G	9: 38,606,554	I30V	probably null	Het
Olfr992	C	T	2: 85,400,171	D121N	probably damaging	Het
Ppef2	T	C	5: 92,235,820	E477G	probably benign	Het
Scmh1	T	A	4: 120,529,900		probably benign	Het
Scn1a	C	A	2: 66,285,937	D1473Y	probably damaging	Het
Sdr42e1	C	T	8: 117,662,937	V322I	probably benign	Het
Spta1	G	A	1: 174,208,394	A1089T	probably damaging	Het
Sufu	T	C	19: 46,475,620	Y424H	probably damaging	Het
Tgs1	T	C	4: 3,585,183	F108L	possibly damaging	Het
Ttn	T	C	2: 76,974,964	N177S	probably benign	Het
Tyk2	T	C	9: 21,120,576	D401G	probably damaging	Het
Vav1	T	C	17: 57,307,067	F650L	possibly damaging	Het
Wdr12	T	C	1: 60,080,559	H385R	probably damaging	Het
Xab2	T	C	8: 3,610,880	M745V	probably benign	Het

Other mutations in Olfr830

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00932:Olfr830	APN	9	18876014	nonsense	probably null
IGL00954:Olfr830	APN	9	18876073	missense	probably benign	0.15
IGL01090:Olfr830	APN	9	18876242	missense	probably benign	0.00
IGL01987:Olfr830	APN	9	18875707	missense	probably benign	0.00
IGL03018:Olfr830	APN	9	18876227	missense	probably benign	0.15
IGL03037:Olfr830	APN	9	18875372	missense	probably damaging	0.98
R0284:Olfr830	UTSW	9	18875552	missense	probably benign
R1322:Olfr830	UTSW	9	18875521	missense	possibly damaging	0.90
R1715:Olfr830	UTSW	9	18875794	missense	probably benign	0.06
R1803:Olfr830	UTSW	9	18876080	missense	probably damaging	1.00
R4360:Olfr830	UTSW	9	18875717	missense	probably damaging	1.00
R4394:Olfr830	UTSW	9	18875611	missense	probably damaging	0.98
R4642:Olfr830	UTSW	9	18876167	missense	probably damaging	1.00
R4796:Olfr830	UTSW	9	18876179	missense	probably damaging	0.96
R4814:Olfr830	UTSW	9	18875917	missense	probably benign	0.30
R5210:Olfr830	UTSW	9	18875807	missense	probably damaging	1.00
R5375:Olfr830	UTSW	9	18876146	missense	probably benign	0.08
R6072:Olfr830	UTSW	9	18875422	missense	probably benign
R6361:Olfr830	UTSW	9	18875731	missense	probably damaging	1.00
R6602:Olfr830	UTSW	9	18875849	missense	possibly damaging	0.81
R6920:Olfr830	UTSW	9	18875525	missense	probably damaging	1.00
R7730:Olfr830	UTSW	9	18875413	missense	probably benign	0.00
R7780:Olfr830	UTSW	9	18875614	missense	possibly damaging	0.65
R8245:Olfr830	UTSW	9	18875830	missense	probably benign
R8274:Olfr830	UTSW	9	18875499	missense	probably benign	0.36
X0026:Olfr830	UTSW	9	18875635	missense	probably damaging	1.00

Posted On

2013-12-09