Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03087:Olfr530'

418127

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr530

Ensembl Gene

ENSMUSG00000060974

Gene Name

olfactory receptor 530

Synonyms

GA_x6K02T2PBJ9-42523824-42522901, MOR252-2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL03087

Quality Score

Status

Chromosome

Chromosomal Location

140371872-140376331 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140373092 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 173 (I173F)

Ref Sequence

ENSEMBL: ENSMUSP00000149475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074177] [ENSMUST00000216727]

Predicted Effect

probably damaging
Transcript: ENSMUST00000074177
AA Change: I173F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073808
Gene: ENSMUSG00000060974
AA Change: I173F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	307	4.8e-48	PFAM
Pfam:7TM_GPCR_Srsx	35	304	1.8e-6	PFAM
Pfam:7tm_1	41	289	1.4e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211097

Predicted Effect

probably damaging
Transcript: ENSMUST00000216727
AA Change: I173F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	T	5: 24,997,632		probably benign	Het
Acbd5	A	G	2: 23,089,710	T261A	probably benign	Het
Ap1g2	G	A	14: 55,103,036	T331I	probably damaging	Het
Ap4m1	A	G	5: 138,174,804	T150A	probably benign	Het
Arid4a	G	T	12: 71,075,245	R478L	possibly damaging	Het
Bard1	T	C	1: 71,067,130	D446G	probably damaging	Het
Baz2a	T	C	10: 128,122,313	L1087P	probably damaging	Het
Bnc1	A	G	7: 81,974,642	L279P	possibly damaging	Het
Bphl	A	T	13: 34,073,711	H275L	probably damaging	Het
Ces1c	T	C	8: 93,118,414	I120V	probably benign	Het
Csmd3	T	A	15: 47,977,033	Y946F	probably damaging	Het
Dnah8	G	A	17: 30,784,144	V3606I	probably benign	Het
Eef2	A	G	10: 81,181,247	N696S	probably benign	Het
Eno4	A	G	19: 58,962,816	H420R	possibly damaging	Het
Enpp1	T	A	10: 24,655,881		probably benign	Het
Fbxo25	T	C	8: 13,924,019		probably null	Het
Glt8d1	T	A	14: 31,010,096	F155I	probably damaging	Het
Golim4	A	T	3: 75,878,673	H598Q	possibly damaging	Het
Hnrnpdl	T	A	5: 100,037,601	E149D	probably damaging	Het
Ifngr2	G	T	16: 91,563,004	*333L	probably null	Het
Ift88	T	C	14: 57,477,957	S486P	probably benign	Het
Igsf9	T	C	1: 172,490,743	I150T	probably benign	Het
Jag2	G	A	12: 112,913,948	L670F	possibly damaging	Het
Kcnc2	T	A	10: 112,455,747	I280N	probably benign	Het
Kif18a	A	G	2: 109,318,117		probably benign	Het
Lct	A	G	1: 128,300,375	L1127P	possibly damaging	Het
Lonrf1	A	T	8: 36,225,551		probably null	Het
Lyst	T	A	13: 13,635,056	I437N	probably damaging	Het
Map3k1	A	G	13: 111,749,025	S1453P	probably benign	Het
Mcmdc2	A	G	1: 9,930,945	M482V	possibly damaging	Het
Mical1	T	C	10: 41,482,690	S535P	probably damaging	Het
Myh3	T	C	11: 67,090,972	F765L	probably damaging	Het
Nat8f6	A	T	6: 85,808,517	Y217N	probably damaging	Het
Ndufaf1	A	G	2: 119,655,799		probably benign	Het
Neurod6	A	T	6: 55,678,775	C292*	probably null	Het
Olfr1106	A	T	2: 87,049,012	S75T	possibly damaging	Het
Olfr1255	A	G	2: 89,816,671	E109G	probably damaging	Het
Olfr809	A	T	10: 129,776,261	M116L	probably damaging	Het
Olfr828	T	C	9: 18,816,084	D70G	probably damaging	Het
Pcdhac2	A	G	18: 37,145,682	N572D	probably damaging	Het
Pfpl	A	G	19: 12,428,877	N164S	probably benign	Het
Pi4kb	A	G	3: 94,984,764	R264G	probably benign	Het
Pla2g2c	T	A	4: 138,731,612	F10I	probably benign	Het
Rag2	G	A	2: 101,630,214	V290I	probably benign	Het
Rhot2	G	A	17: 25,841,141		probably benign	Het
Rps6kc1	T	C	1: 190,871,711	Y238C	probably damaging	Het
Scyl2	G	T	10: 89,652,968	A495D	possibly damaging	Het
Sept4	T	A	11: 87,585,245		probably benign	Het
Serpina5	G	T	12: 104,101,733	A18S	probably benign	Het
Slc25a11	T	C	11: 70,645,207	T234A	probably benign	Het
Slc44a2	C	T	9: 21,346,765	T435I	probably benign	Het
Tekt2	T	A	4: 126,324,867	Q31L	possibly damaging	Het
Tfpi	A	G	2: 84,444,045	V199A	possibly damaging	Het
Trap1	G	T	16: 4,044,701		probably null	Het
Trmt1	A	G	8: 84,695,233	Y213C	probably damaging	Het
Ubr4	C	T	4: 139,450,357	R3184*	probably null	Het
Uroc1	G	T	6: 90,363,103		probably benign	Het
Vmn1r19	A	G	6: 57,404,491	I10V	probably benign	Het
Zfhx2	G	A	14: 55,072,845	A748V	possibly damaging	Het

Other mutations in Olfr530

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01071:Olfr530	APN	7	140373185	missense	probably benign	0.01
IGL01785:Olfr530	APN	7	140373125	missense	probably benign
IGL01786:Olfr530	APN	7	140373125	missense	probably benign
R0543:Olfr530	UTSW	7	140373394	missense	probably benign	0.07
R0634:Olfr530	UTSW	7	140373397	missense	possibly damaging	0.88
R1470:Olfr530	UTSW	7	140373113	missense	probably benign	0.03
R1470:Olfr530	UTSW	7	140373113	missense	probably benign	0.03
R1553:Olfr530	UTSW	7	140373038	missense	probably damaging	1.00
R1702:Olfr530	UTSW	7	140372742	nonsense	probably null
R1767:Olfr530	UTSW	7	140373476	missense	possibly damaging	0.95
R2379:Olfr530	UTSW	7	140372835	nonsense	probably null
R4243:Olfr530	UTSW	7	140372944	missense	probably benign	0.01
R4281:Olfr530	UTSW	7	140373472	missense	probably benign	0.10
R4717:Olfr530	UTSW	7	140373415	missense	probably damaging	0.99
R4923:Olfr530	UTSW	7	140373007	missense	probably benign	0.11
R5763:Olfr530	UTSW	7	140373655	critical splice acceptor site	probably null
R6126:Olfr530	UTSW	7	140373253	missense	probably damaging	1.00
R6528:Olfr530	UTSW	7	140373441	missense	possibly damaging	0.81
R7469:Olfr530	UTSW	7	140373137	missense	possibly damaging	0.93
R8081:Olfr530	UTSW	7	140373059	missense	probably damaging	1.00
Z1177:Olfr530	UTSW	7	140372803	missense	probably benign	0.21

Posted On

2016-08-02