Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02890:Olfr180'

363132

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr180

Ensembl Gene

ENSMUSG00000090629

Gene Name

olfactory receptor 180

Synonyms

MOR184-11P, GA_x54KRFPKG5P-55134972-55134019, Olfr1563-ps1, MOR184-9, MOR184-11P

Accession Numbers

Is this an essential gene?

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

Stock #

IGL02890

Quality Score

Status

Chromosome

Chromosomal Location

58914285-58929392 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58916374 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 89 (D89G)

Ref Sequence

ENSEMBL: ENSMUSP00000128358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171656] [ENSMUST00000205883] [ENSMUST00000206168]

Predicted Effect

probably benign
Transcript: ENSMUST00000171656
AA Change: D89G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000128358
Gene: ENSMUSG00000090629
AA Change: D89G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	1.4e-51	PFAM
Pfam:7tm_1	41	313	1e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205883
AA Change: D89G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000206168
AA Change: D89G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900055J20Rik	A	G	18: 40,257,027		probably benign	Het
Adam39	A	T	8: 40,825,153	I194L	probably benign	Het
Akirin1	A	G	4: 123,738,062	V171A	probably damaging	Het
Camk2b	A	T	11: 6,001,340	D91E	possibly damaging	Het
Ccser1	A	G	6: 62,379,831	D751G	probably damaging	Het
D6Wsu163e	G	A	6: 126,974,487	G500D	probably damaging	Het
Dchs1	G	T	7: 105,756,491	D2395E	probably damaging	Het
Fam189b	A	T	3: 89,186,782	T223S	possibly damaging	Het
Fat3	T	C	9: 15,915,340	T4439A	probably benign	Het
Fn1	A	G	1: 71,598,372		probably null	Het
Galnt14	A	C	17: 73,509,524		probably null	Het
Gemin4	A	C	11: 76,211,264	S890R	probably damaging	Het
Glrp1	T	A	1: 88,509,788		probably null	Het
Grik1	A	G	16: 87,896,802		probably benign	Het
Hist1h2bm	G	T	13: 21,722,186	R30L	probably benign	Het
Hspa12a	C	T	19: 58,820,999		probably null	Het
Hykk	C	T	9: 54,920,711	P78L	probably benign	Het
Kctd13	G	A	7: 126,930,731	G115R	probably benign	Het
Ltn1	C	T	16: 87,409,297		probably null	Het
Mat2a	A	G	6: 72,436,246	L167P	probably damaging	Het
Myo6	A	G	9: 80,266,174	E532G	probably damaging	Het
Nrbp2	G	T	15: 76,089,457	L272M	probably damaging	Het
Nrd1	A	G	4: 109,053,919	D790G	possibly damaging	Het
Olfr1507	T	A	14: 52,490,911	T18S	probably benign	Het
Olfr943	T	C	9: 39,184,268	L27P	probably damaging	Het
Pcdh10	A	T	3: 45,392,617	H949L	probably damaging	Het
Pikfyve	A	G	1: 65,230,797	Y547C	probably benign	Het
Pkhd1	A	T	1: 20,361,011	V2392D	probably damaging	Het
Ppp1r3g	A	T	13: 35,969,331	T245S	probably damaging	Het
Prkaa1	A	G	15: 5,177,086	N439S	possibly damaging	Het
Radil	A	G	5: 142,543,708	Y78H	probably damaging	Het
Ric8b	A	T	10: 85,001,867	M513L	possibly damaging	Het
Slc4a10	T	C	2: 62,286,916	S740P	probably damaging	Het
Slc5a12	T	C	2: 110,624,133		probably benign	Het
Smg1	G	A	7: 118,185,501		probably benign	Het
Spef2	C	T	15: 9,748,767	M1I	probably null	Het
Tmc5	A	T	7: 118,645,430		probably benign	Het
Tpp2	C	T	1: 43,999,690	A1132V	probably damaging	Het
Ttll4	A	T	1: 74,687,339	K699*	probably null	Het

Other mutations in Olfr180

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Olfr180	APN	16	58915850	missense	probably benign	0.01
IGL01759:Olfr180	APN	16	58915928	missense	probably damaging	0.99
IGL02499:Olfr180	APN	16	58916251	missense	probably damaging	1.00
R1123:Olfr180	UTSW	16	58916334	nonsense	probably null
R1292:Olfr180	UTSW	16	58915771	missense	probably damaging	1.00
R2983:Olfr180	UTSW	16	58916567	missense	probably benign	0.00
R3894:Olfr180	UTSW	16	58916339	missense	probably benign	0.28
R4176:Olfr180	UTSW	16	58916584	missense	probably benign	0.01
R4666:Olfr180	UTSW	16	58916584	missense	probably benign	0.01
R5058:Olfr180	UTSW	16	58916072	missense	probably benign	0.00
R5375:Olfr180	UTSW	16	58915885	missense	possibly damaging	0.83
R5998:Olfr180	UTSW	16	58916630	missense	probably benign
R6225:Olfr180	UTSW	16	58916182	missense	probably benign	0.32
R6315:Olfr180	UTSW	16	58916246	missense	probably damaging	1.00
R6380:Olfr180	UTSW	16	58916264	missense	probably damaging	1.00
R6866:Olfr180	UTSW	16	58915988	missense	probably damaging	1.00
R7513:Olfr180	UTSW	16	58915932	missense	probably damaging	1.00
R7582:Olfr180	UTSW	16	58916047	missense	possibly damaging	0.48

Posted On

2015-12-18