Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03001:Olfr1173'

407310

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr1173

Ensembl Gene

ENSMUSG00000075132

Gene Name

olfactory receptor 1173

Synonyms

GA_x6K02T2Q125-49759783-49758845, MOR174-20_p

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL03001

Quality Score

Status

Chromosome

Chromosomal Location

88273040-88279875 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88274845 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 68 (D68V)

Ref Sequence

ENSEMBL: ENSMUSP00000149617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099830] [ENSMUST00000216887]

Predicted Effect

probably damaging
Transcript: ENSMUST00000099830
AA Change: D68V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097418
Gene: ENSMUSG00000075132
AA Change: D68V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.6e-46	PFAM
Pfam:7tm_1	39	288	1.3e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216887
AA Change: D68V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	C	5: 107,497,842	I9T	probably damaging	Het
Acan	A	C	7: 79,111,294	D1918A	probably damaging	Het
Ahcy	C	A	2: 155,064,828	D182Y	probably damaging	Het
Aldob	T	G	4: 49,542,844	D110A	probably damaging	Het
Alkbh8	A	T	9: 3,344,602	M53L	probably benign	Het
Aqr	T	C	2: 114,146,919	D363G	probably benign	Het
Asxl3	A	G	18: 22,517,398	R815G	probably damaging	Het
Atf4	T	A	15: 80,256,657	W83R	probably damaging	Het
Baz1a	A	T	12: 54,923,111	M587K	possibly damaging	Het
Cactin	T	A	10: 81,325,734	I700N	probably damaging	Het
Catsperg2	T	C	7: 29,725,079	S95G	probably benign	Het
Cbwd1	T	C	19: 24,922,638	K301E	probably benign	Het
Cd1d1	C	T	3: 86,998,161	S175N	probably benign	Het
Chd4	C	A	6: 125,101,566	A217E	possibly damaging	Het
Cnbd2	T	C	2: 156,333,634		probably null	Het
Cntnap5c	G	A	17: 58,055,639	C329Y	probably damaging	Het
Col12a1	C	T	9: 79,633,673	G2391R	probably damaging	Het
Col5a3	T	A	9: 20,807,744	D238V	unknown	Het
Cuedc1	T	C	11: 88,182,489	V160A	probably benign	Het
Depdc5	T	C	5: 32,945,090	V342A	possibly damaging	Het
Dnah6	T	C	6: 73,149,140	D1338G	probably benign	Het
Dpyd	T	C	3: 118,917,242	V433A	probably benign	Het
Epb41l5	T	C	1: 119,617,644	H179R	probably damaging	Het
Fbf1	T	C	11: 116,165,886		probably benign	Het
Flnb	T	C	14: 7,934,680	S2251P	probably damaging	Het
Fsip2	A	T	2: 82,990,624		probably benign	Het
Grin2b	C	T	6: 135,739,115	V735M	probably damaging	Het
Itpr3	T	G	17: 27,089,612		probably benign	Het
Lingo4	C	T	3: 94,402,396	R214C	probably damaging	Het
Lrp1b	C	T	2: 40,927,889	R2329H	probably damaging	Het
Lrrc47	T	C	4: 154,015,993	L342P	probably damaging	Het
Mmp15	T	C	8: 95,368,217	S240P	probably damaging	Het
Ndufaf4	T	A	4: 24,901,747	N95K	probably benign	Het
Nms	C	T	1: 38,941,912	P60S	probably benign	Het
Npas3	A	T	12: 53,501,192	Y77F	probably damaging	Het
Olfr1158	T	A	2: 87,990,149	Y13N	probably benign	Het
Olfr1412	T	A	1: 92,588,551	S74T	probably damaging	Het
Olfr320	T	G	11: 58,683,876	M1R	probably null	Het
Olfr561	G	T	7: 102,775,253	C243F	probably damaging	Het
Olfr926	A	G	9: 38,878,078	M301V	probably benign	Het
Picalm	T	C	7: 90,182,246	V429A	probably benign	Het
Pkhd1l1	T	A	15: 44,558,004	I3056N	probably damaging	Het
Pomt1	G	T	2: 32,244,326	M286I	probably benign	Het
Popdc2	A	T	16: 38,369,519	Y176F	probably benign	Het
Psg21	A	T	7: 18,652,485	M192K	probably benign	Het
Psma1	C	A	7: 114,266,439	A219S	probably benign	Het
Rad21l	T	G	2: 151,668,469	H22P	probably damaging	Het
Rnf213	A	G	11: 119,479,941	T4791A	probably damaging	Het
Sdk2	A	G	11: 113,821,626	V1609A	probably benign	Het
Sema3e	T	A	5: 14,241,043	S606T	probably benign	Het
Slc16a4	A	T	3: 107,311,542	R486S	possibly damaging	Het
Slc17a3	T	C	13: 23,856,784	L331P	probably damaging	Het
Slc38a11	A	T	2: 65,353,815	V164D	probably damaging	Het
Slc38a6	A	G	12: 73,337,053	I173V	probably benign	Het
Synpo2	T	C	3: 123,079,955	T1121A	probably benign	Het
Tfcp2	T	C	15: 100,528,421	D83G	possibly damaging	Het
Thnsl1	A	G	2: 21,211,644	T70A	probably damaging	Het
Tnfrsf21	A	G	17: 43,087,895	I631V	probably damaging	Het
Tor2a	C	A	2: 32,757,317	H6Q	possibly damaging	Het
Ttn	T	C	2: 76,734,923	N19993S	probably benign	Het
Vps53	T	C	11: 76,138,324	E119G	probably damaging	Het
Zkscan6	T	C	11: 65,814,669	W69R	probably damaging	Het
Zswim8	T	C	14: 20,714,391	S610P	probably damaging	Het

Other mutations in Olfr1173

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01079:Olfr1173	APN	2	88274716	missense	probably damaging	1.00
IGL01751:Olfr1173	APN	2	88274633	missense	possibly damaging	0.60
IGL02009:Olfr1173	APN	2	88274712	missense	probably benign	0.06
IGL02148:Olfr1173	APN	2	88274222	missense	possibly damaging	0.94
IGL02833:Olfr1173	APN	2	88274432	missense	probably benign
R0471:Olfr1173	UTSW	2	88274215	missense	possibly damaging	0.95
R2136:Olfr1173	UTSW	2	88274240	missense	probably damaging	0.98
R2141:Olfr1173	UTSW	2	88275010	missense	probably benign	0.30
R3957:Olfr1173	UTSW	2	88275004	missense	probably damaging	1.00
R4801:Olfr1173	UTSW	2	88274879	missense	probably damaging	1.00
R4802:Olfr1173	UTSW	2	88274879	missense	probably damaging	1.00
R5266:Olfr1173	UTSW	2	88274221	missense	possibly damaging	0.49
R5371:Olfr1173	UTSW	2	88274632	missense	probably damaging	1.00
R5775:Olfr1173	UTSW	2	88274701	missense	probably damaging	0.98
R7222:Olfr1173	UTSW	2	88274465	missense	probably benign	0.00
R7493:Olfr1173	UTSW	2	88275101	start gained	probably benign
R7503:Olfr1173	UTSW	2	88274695	missense	probably damaging	1.00
R7586:Olfr1173	UTSW	2	88274450	missense	probably damaging	0.98
R8192:Olfr1173	UTSW	2	88274944	missense	probably damaging	0.99
R8354:Olfr1173	UTSW	2	88274692	missense	probably damaging	1.00
R8530:Olfr1173	UTSW	2	88274810	missense	probably damaging	1.00

Posted On

2016-08-02