Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03173:Olfr630'

411917

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr630

Ensembl Gene

ENSMUSG00000050281

Gene Name

olfactory receptor 630

Synonyms

MOR17-1, GA_x6K02T2PBJ9-6483085-6482126

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL03173

Quality Score

Status

Chromosome

Chromosomal Location

103753480-103757333 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103754976 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 203 (V203A)

Ref Sequence

ENSEMBL: ENSMUSP00000102493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106880]

Predicted Effect

probably benign
Transcript: ENSMUST00000052826
AA Change: V203A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000049569
Gene: ENSMUSG00000050281
AA Change: V203A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	3.4e-120	PFAM
Pfam:7TM_GPCR_Srsx	37	305	3.7e-8	PFAM
Pfam:7tm_1	43	294	1.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106880
AA Change: V203A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000102493
Gene: ENSMUSG00000050281
AA Change: V203A

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	37	305	3.7e-8	PFAM
Pfam:7tm_1	43	294	8.4e-25	PFAM
Pfam:7tm_4	144	287	9e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217072

Meta Mutation Damage Score

0.0898

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2b	T	C	12: 105,658,294	K649E	possibly damaging	Het
B230359F08Rik	T	C	14: 53,796,077		probably benign	Het
Cnnm4	A	G	1: 36,473,092		probably benign	Het
Cntrob	C	T	11: 69,310,027	A503T	possibly damaging	Het
D3Ertd751e	T	A	3: 41,756,062	Y170N	probably damaging	Het
Ddx23	T	C	15: 98,651,004	I306V	probably benign	Het
Ep400	A	G	5: 110,708,871		probably benign	Het
Gmps	T	C	3: 63,990,329	V234A	probably damaging	Het
Hivep2	G	T	10: 14,127,982	G108V	possibly damaging	Het
Irgc1	T	C	7: 24,433,302	E30G	probably damaging	Het
Krt75	T	C	15: 101,572,727	Y204C	probably damaging	Het
Ms4a14	G	A	19: 11,304,196	L333F	possibly damaging	Het
Olfr1065	A	T	2: 86,445,444	C179*	probably null	Het
Olfr1440	T	A	19: 12,395,046	M261K	possibly damaging	Het
Pitpnm3	G	A	11: 72,092,563	T80I	probably benign	Het
Pou2f2	T	C	7: 25,099,946		probably benign	Het
Slc34a1	T	C	13: 55,413,276	L518P	probably damaging	Het
Sorbs1	T	A	19: 40,363,262	T235S	probably damaging	Het
Ssxa1	C	T	X: 21,118,985	R41C	probably benign	Het
Syt2	A	G	1: 134,743,579	N142D	possibly damaging	Het
Taf3	A	G	2: 9,952,927	V143A	probably damaging	Het
Tti1	A	G	2: 158,007,012		probably benign	Het
Vmn2r13	T	C	5: 109,171,779	E445G	possibly damaging	Het
Zfp663	G	T	2: 165,352,499	T600K	probably damaging	Het
Zfp750	G	A	11: 121,513,825	Q75*	probably null	Het

Other mutations in Olfr630

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Olfr630	APN	7	103755006	missense	probably damaging	1.00
IGL01111:Olfr630	APN	7	103755373	missense	probably benign	0.07
IGL02456:Olfr630	APN	7	103755493	missense	possibly damaging	0.94
R1104:Olfr630	UTSW	7	103754976	missense	probably benign	0.00
R1507:Olfr630	UTSW	7	103755021	missense	probably benign	0.00
R1695:Olfr630	UTSW	7	103754924	nonsense	probably null
R1966:Olfr630	UTSW	7	103755168	missense	probably damaging	1.00
R1971:Olfr630	UTSW	7	103755320	nonsense	probably null
R2696:Olfr630	UTSW	7	103755528	missense	probably damaging	0.96
R4943:Olfr630	UTSW	7	103755296	missense	probably benign	0.12
R5622:Olfr630	UTSW	7	103755169	missense	probably damaging	0.99
R6365:Olfr630	UTSW	7	103755195	missense	probably benign	0.00
R7592:Olfr630	UTSW	7	103755072	missense	probably damaging	1.00
R8146:Olfr630	UTSW	7	103755303	missense	probably damaging	1.00
R8283:Olfr630	UTSW	7	103754812	missense	possibly damaging	0.51
R8867:Olfr630	UTSW	7	103754686	nonsense	probably null
R8875:Olfr630	UTSW	7	103755255	missense	probably damaging	1.00

Posted On

2016-08-02