Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02608:Olfr114'

300333

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr114

Ensembl Gene

ENSMUSG00000062629

Gene Name

olfactory receptor 114

Synonyms

MOR218-10, GA_x6K02T2PSCP-2049802-2048870

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

IGL02608

Quality Score

Status

Chromosome

Chromosomal Location

37589233-37592743 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37590219 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 45 (I45F)

Ref Sequence

ENSEMBL: ENSMUSP00000149735 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076914] [ENSMUST00000214871] [ENSMUST00000216249]

Predicted Effect

probably damaging
Transcript: ENSMUST00000076914
AA Change: I45F

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

SMART Domains

Protein: ENSMUSP00000076181
Gene: ENSMUSG00000062629
AA Change: I45F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2e-43	PFAM
Pfam:7TM_GPCR_Srsx	35	305	3.7e-6	PFAM
Pfam:7tm_1	41	290	3e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214871
AA Change: I45F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216249
AA Change: I45F

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	T	A	15: 102,339,192	M415L	probably benign	Het
Akap6	T	C	12: 53,010,606	S952P	probably benign	Het
Aldh3a1	A	G	11: 61,216,321	R284G	probably damaging	Het
Aldh3b1	G	T	19: 3,914,061	H414N	probably damaging	Het
Chd5	G	A	4: 152,356,107	M141I	possibly damaging	Het
Cntn2	C	T	1: 132,525,916	A340T	possibly damaging	Het
Daw1	T	A	1: 83,209,334	C288*	probably null	Het
Dcn	A	G	10: 97,483,457	E32G	probably damaging	Het
Dock5	C	T	14: 67,828,439	V372M	probably benign	Het
Etf1	T	C	18: 34,931,617	E13G	probably damaging	Het
Filip1l	A	G	16: 57,572,106	E781G	probably benign	Het
Gm8989	T	A	7: 106,329,669		noncoding transcript	Het
Gucy1a2	A	G	9: 3,635,113	I386V	probably damaging	Het
Hoxb5	T	A	11: 96,305,143		probably benign	Het
Iqch	T	A	9: 63,421,828		probably benign	Het
Itgal	C	T	7: 127,310,244	P423S	probably damaging	Het
Kti12	T	G	4: 108,848,162	L91R	probably damaging	Het
Lgals3	T	C	14: 47,385,601	M239T	probably benign	Het
Lrrc8a	T	C	2: 30,256,299	M375T	possibly damaging	Het
Ly75	T	C	2: 60,321,900	E1103G	probably benign	Het
Lyst	A	T	13: 13,712,754	E3056V	probably damaging	Het
Map3k7	T	C	4: 31,981,452		probably benign	Het
Ncor1	G	A	11: 62,373,214	T180I	probably benign	Het
Nectin4	T	C	1: 171,384,773	V313A	probably benign	Het
Nol4l	A	G	2: 153,436,293	S8P	possibly damaging	Het
Npas2	T	A	1: 39,345,446	S607T	probably benign	Het
Nup155	T	A	15: 8,109,471	M9K	probably benign	Het
Nwd1	T	C	8: 72,667,375	L422P	probably damaging	Het
Papola	G	T	12: 105,809,559	G245C	probably damaging	Het
Pcdhb6	T	C	18: 37,334,694	S223P	probably damaging	Het
Pdcd4	T	C	19: 53,927,207		probably null	Het
Pigg	T	C	5: 108,313,003	F27L	probably damaging	Het
Prpf40a	A	T	2: 53,146,153	M588K	probably damaging	Het
Psme4	A	G	11: 30,820,944	N764S	probably benign	Het
Ptar1	A	C	19: 23,705,712	E110A	possibly damaging	Het
Rbm12	A	T	2: 156,095,898		probably benign	Het
Rfx7	A	G	9: 72,617,294	T589A	probably benign	Het
Rpl21-ps4	G	T	14: 11,227,831		noncoding transcript	Het
Rpp38	T	C	2: 3,329,161	T235A	probably benign	Het
Sbno2	A	T	10: 80,067,402		probably null	Het
Scn3a	A	T	2: 65,524,166	C337*	probably null	Het
Sec61a2	T	C	2: 5,874,262	T312A	probably benign	Het
Snrpg	C	A	6: 86,376,568	D43E	probably damaging	Het
Stag1	A	T	9: 100,757,769	Q126L	probably null	Het
Taar6	A	G	10: 23,985,183	V155A	probably benign	Het
Tet1	G	A	10: 62,879,609	H136Y	possibly damaging	Het
Tet1	C	A	10: 62,839,087	S1070I	probably damaging	Het
Tfcp2	T	C	15: 100,514,110	T327A	possibly damaging	Het
Tnfrsf13c	C	T	15: 82,223,163	V144M	probably damaging	Het
Tnfrsf22	T	A	7: 143,644,796	K61*	probably null	Het
Trhr	T	C	15: 44,197,678	V198A	probably benign	Het
Trp53inp2	A	G	2: 155,386,649	R175G	probably damaging	Het
Try10	G	A	6: 41,355,487	G26R	probably damaging	Het
Vmn1r205	A	G	13: 22,592,200	V244A	probably damaging	Het
Wrnip1	T	A	13: 32,806,874	L372H	probably damaging	Het
Zfp280d	T	A	9: 72,307,979	L149Q	probably damaging	Het
Zfp445	A	G	9: 122,861,875	V85A	probably damaging	Het

Other mutations in Olfr114

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01534:Olfr114	APN	17	37590072	missense	possibly damaging	0.93
IGL01624:Olfr114	APN	17	37589925	missense	probably benign	0.00
IGL02026:Olfr114	APN	17	37589407	utr 3 prime	probably benign
IGL02632:Olfr114	APN	17	37590341	missense	probably benign	0.00
IGL02990:Olfr114	APN	17	37589668	missense	probably benign	0.00
R0114:Olfr114	UTSW	17	37589415	makesense	probably null
R1156:Olfr114	UTSW	17	37589517	missense	possibly damaging	0.93
R1366:Olfr114	UTSW	17	37589764	missense	probably benign	0.03
R3413:Olfr114	UTSW	17	37589696	missense	probably benign	0.00
R3701:Olfr114	UTSW	17	37589826	nonsense	probably null
R6122:Olfr114	UTSW	17	37589926	missense	probably benign	0.12
R6639:Olfr114	UTSW	17	37589931	missense	probably damaging	1.00
R7066:Olfr114	UTSW	17	37590143	missense	probably damaging	1.00
R7316:Olfr114	UTSW	17	37590135	missense	probably damaging	0.99
R8340:Olfr114	UTSW	17	37590143	missense	probably damaging	1.00

Posted On

2015-04-16