Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02183:Olfr178'

284296

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr178

Ensembl Gene

ENSMUSG00000044029

Gene Name

olfactory receptor 178

Synonyms

GA_x54KRFPKG5P-55108059-55107100, MOR184-6

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL02183

Quality Score

Status

Chromosome

Chromosomal Location

58888308-58892063 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58889821 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 133 (Q133L)

Ref Sequence

ENSEMBL: ENSMUSP00000148922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058564] [ENSMUST00000206523] [ENSMUST00000215032]

AlphaFold

E9Q9T3

Predicted Effect

probably benign
Transcript: ENSMUST00000058564
AA Change: Q133L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000049578
Gene: ENSMUSG00000044029
AA Change: Q133L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	306	1.2e-49	PFAM
Pfam:7TM_GPCR_Srsx	37	262	4.4e-7	PFAM
Pfam:7tm_1	43	312	5.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000206523
AA Change: Q133L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000215032
AA Change: Q133L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	G	A	1: 37,625,378	P480S	possibly damaging	Het
Ace2	T	A	X: 164,177,469		probably benign	Het
Acsm4	A	T	7: 119,693,852		probably null	Het
Apcdd1	T	C	18: 62,951,854	M374T	probably damaging	Het
Arid4b	A	G	13: 14,169,990	E551G	possibly damaging	Het
Bag4	A	T	8: 25,768,030	L423Q	probably damaging	Het
Celf1	C	T	2: 91,001,486	P96S	probably damaging	Het
Cry2	G	A	2: 92,413,039	R486W	probably damaging	Het
Csn1s1	G	A	5: 87,677,618	S228N	possibly damaging	Het
Ctnnd2	A	G	15: 31,020,740	Y1124C	probably damaging	Het
Cyp2j7	T	C	4: 96,230,147		probably benign	Het
Dock7	A	T	4: 98,958,991	C1695S	possibly damaging	Het
Elmo3	T	C	8: 105,308,323	L415P	probably benign	Het
Entpd5	A	G	12: 84,380,380		probably benign	Het
Gm7534	A	G	4: 134,201,980	L338S	probably benign	Het
Gpatch11	T	C	17: 78,842,231		probably null	Het
Gprin3	C	A	6: 59,353,162	R720I	possibly damaging	Het
Gria4	T	G	9: 4,502,460	T358P	probably damaging	Het
Hcn2	T	C	10: 79,724,813		probably null	Het
Hivep3	A	G	4: 120,132,024	T1891A	probably benign	Het
Hmgcr	A	G	13: 96,663,127	V153A	probably damaging	Het
Ifnar1	T	C	16: 91,505,146	V503A	possibly damaging	Het
Igf2r	G	A	17: 12,698,516		probably benign	Het
Ighg2b	A	G	12: 113,307,829	S35P	unknown	Het
Jmy	T	C	13: 93,499,242	D22G	possibly damaging	Het
Kdm5b	T	C	1: 134,624,931	I1215T	probably benign	Het
Krt84	T	C	15: 101,532,356	I134V	unknown	Het
Magi3	T	A	3: 104,085,347	M270L	probably benign	Het
Maneal	G	A	4: 124,860,416	T198I	probably benign	Het
Map7d3	A	G	X: 56,822,231		probably benign	Het
Myh7	T	A	14: 54,974,731	T1519S	probably benign	Het
Myo5a	T	C	9: 75,167,236		probably benign	Het
Naip5	T	C	13: 100,221,642	S1029G	probably benign	Het
Olfr1162	T	C	2: 88,049,989	T212A	possibly damaging	Het
Olfr1205	A	T	2: 88,832,028	I304F	probably benign	Het
Olfr125	G	T	17: 37,835,413	C138F	probably damaging	Het
Olfr1279	T	A	2: 111,306,418	V71E	probably damaging	Het
Pald1	A	T	10: 61,347,141		probably benign	Het
Pan2	T	A	10: 128,309,075	H230Q	possibly damaging	Het
Pcdh9	T	C	14: 93,886,284	I817V	probably benign	Het
Piezo2	A	G	18: 63,020,634	S2547P	probably benign	Het
Ppargc1b	T	A	18: 61,309,096		probably null	Het
Prdm6	T	C	18: 53,464,677		probably benign	Het
Prr5l	A	T	2: 101,772,120		probably benign	Het
Rab3gap2	T	A	1: 185,271,468	L1020*	probably null	Het
Rhbdf1	T	C	11: 32,210,543	H669R	probably damaging	Het
Rnf150	A	T	8: 83,003,605	I255F	probably damaging	Het
Rnf17	T	A	14: 56,507,868	D1360E	probably null	Het
Sag	T	C	1: 87,828,475		probably null	Het
Scn2a	C	T	2: 65,671,603	T90I	probably benign	Het
Scn9a	T	A	2: 66,484,611		probably benign	Het
Serpinb13	T	C	1: 106,998,910	M212T	probably damaging	Het
Slc39a14	C	T	14: 70,306,685	G484E	possibly damaging	Het
Slco1a1	A	T	6: 141,921,943		probably benign	Het
Slitrk3	A	T	3: 73,049,979	Y487N	probably damaging	Het
Stkld1	T	C	2: 26,946,659	M279T	probably benign	Het
Tmem161b	T	C	13: 84,272,254	Y125H	probably damaging	Het
Tmem71	A	G	15: 66,555,025		probably benign	Het
Ubxn7	T	C	16: 32,369,383	F142L	probably damaging	Het
Vmn2r22	A	G	6: 123,638,004	L209P	probably damaging	Het
Wdr73	A	T	7: 80,893,760	W136R	probably damaging	Het
Wif1	C	T	10: 121,075,276	R107C	probably damaging	Het
Ythdf2	G	T	4: 132,205,574	L92M	probably benign	Het
Zfp53	T	A	17: 21,500,250	I34N	possibly damaging	Het

Other mutations in Olfr178

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Olfr178	APN	16	58889685	missense	probably damaging	0.97
IGL01964:Olfr178	APN	16	58889464	missense	probably damaging	0.97
IGL02122:Olfr178	APN	16	58889771	missense	probably benign
IGL03143:Olfr178	APN	16	58889461	missense	probably damaging	1.00
R1566:Olfr178	UTSW	16	58889540	missense	probably damaging	1.00
R2324:Olfr178	UTSW	16	58890140	missense	probably benign
R2420:Olfr178	UTSW	16	58889965	missense	probably benign	0.00
R2421:Olfr178	UTSW	16	58889965	missense	probably benign	0.00
R2422:Olfr178	UTSW	16	58889965	missense	probably benign	0.00
R4256:Olfr178	UTSW	16	58889780	missense	probably benign	0.21
R4374:Olfr178	UTSW	16	58889879	missense	probably benign	0.13
R4502:Olfr178	UTSW	16	58890176	missense	probably benign	0.02
R4503:Olfr178	UTSW	16	58890176	missense	probably benign	0.02
R4662:Olfr178	UTSW	16	58889924	missense	probably damaging	1.00
R4967:Olfr178	UTSW	16	58889594	missense	possibly damaging	0.48
R5206:Olfr178	UTSW	16	58890018	missense	probably damaging	0.99
R5285:Olfr178	UTSW	16	58890108	nonsense	probably null
R5477:Olfr178	UTSW	16	58889744	missense	probably benign	0.10
R5554:Olfr178	UTSW	16	58889806	missense	possibly damaging	0.95
R5723:Olfr178	UTSW	16	58889613	nonsense	probably null
R5725:Olfr178	UTSW	16	58889887	missense	possibly damaging	0.64
R6853:Olfr178	UTSW	16	58889758	missense	possibly damaging	0.64
R6853:Olfr178	UTSW	16	58889759	missense	probably damaging	0.99
R7238:Olfr178	UTSW	16	58889889	missense	probably damaging	1.00
R7554:Olfr178	UTSW	16	58889406	missense	probably benign	0.27
R7577:Olfr178	UTSW	16	58889266	missense	probably benign	0.22
R7787:Olfr178	UTSW	16	58889590	missense	probably benign
R8008:Olfr178	UTSW	16	58889888	missense	probably benign	0.13
R8140:Olfr178	UTSW	16	58889585	missense	probably benign	0.10
R8928:Olfr178	UTSW	16	58889387	missense	possibly damaging	0.75
R9082:Olfr178	UTSW	16	58889471	missense	probably damaging	1.00
R9285:Olfr178	UTSW	16	58890206	nonsense	probably null
R9414:Olfr178	UTSW	16	58890202	missense	not run

Posted On

2015-04-16