Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02719:Olfr193'

304889

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr193

Ensembl Gene

ENSMUSG00000060057

Gene Name

olfactory receptor 193

Synonyms

Olfr1540-ps1, MOR183-7P, GA_x54KRFPKG5P-55338697-55337768, MOR113-7P, MOR113-7P

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL02719

Quality Score

Status

Chromosome

Chromosomal Location

59107924-59111881 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59110173 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 146 (T146S)

Ref Sequence

ENSEMBL: ENSMUSP00000146393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076262] [ENSMUST00000207935] [ENSMUST00000208455]

Predicted Effect

probably benign
Transcript: ENSMUST00000076262
AA Change: T146S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000075611
Gene: ENSMUSG00000060057
AA Change: T146S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.3e-48	PFAM
Pfam:7tm_1	41	290	5.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207935

Predicted Effect

probably benign
Transcript: ENSMUST00000208455
AA Change: T146S

PolyPhen 2 Score 0.011 (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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,582,150	D160G	probably damaging	Het
Aak1	A	G	6: 86,959,170		probably benign	Het
Anp32e	A	G	3: 95,937,912		probably benign	Het
Aspscr1	T	A	11: 120,677,579	L61Q	probably damaging	Het
Btrc	A	G	19: 45,503,150	I89M	probably damaging	Het
Ccdc175	G	A	12: 72,175,125	T141M	probably damaging	Het
Cep70	G	A	9: 99,275,722	V225I	probably damaging	Het
Col4a1	T	C	8: 11,231,950		probably benign	Het
Cpne1	T	C	2: 156,078,217	Y214C	probably damaging	Het
Crtc3	T	C	7: 80,618,658		probably null	Het
Cul2	C	T	18: 3,434,052	A683V	probably damaging	Het
Ddx47	A	G	6: 135,017,151	N131D	probably benign	Het
Dnah7b	T	G	1: 46,099,608		probably benign	Het
Dnaic2	T	C	11: 114,751,911	L446P	probably damaging	Het
Ergic2	T	C	6: 148,204,819	T58A	possibly damaging	Het
Erlin2	A	G	8: 27,029,675		probably benign	Het
Fermt2	T	C	14: 45,504,656	T78A	probably damaging	Het
Flg2	G	T	3: 93,220,131	G97*	probably null	Het
Gm7356	A	G	17: 14,001,275	I164T	probably damaging	Het
Gucy1a2	T	A	9: 3,894,719		probably benign	Het
Heatr5b	C	T	17: 78,815,540	R670H	probably damaging	Het
Hspa4l	T	C	3: 40,772,658	V476A	possibly damaging	Het
Ick	A	G	9: 78,140,019	E67G	probably damaging	Het
Itpkc	A	T	7: 27,228,050	D146E	possibly damaging	Het
Kcnk3	T	C	5: 30,621,980	F125L	probably damaging	Het
Kif12	T	A	4: 63,167,796	M411L	probably benign	Het
Krtap24-1	T	C	16: 88,612,206	S11G	probably benign	Het
Lilra6	A	T	7: 3,912,992	H289Q	possibly damaging	Het
Musk	A	C	4: 58,356,496	N469H	probably benign	Het
Myom1	A	G	17: 71,106,354		probably benign	Het
Nagpa	A	G	16: 5,201,493	V46A	possibly damaging	Het
Olfr1281	T	A	2: 111,329,245	Y275*	probably null	Het
Olfr146	T	C	9: 39,019,016	N175S	probably benign	Het
Parp6	T	A	9: 59,630,738	V222E	probably benign	Het
Pde3b	T	A	7: 114,506,248	S472T	probably damaging	Het
Peak1	A	G	9: 56,227,206	S1314P	probably damaging	Het
Pgc	A	G	17: 47,728,867	Y62C	probably damaging	Het
Pitpnm2	A	G	5: 124,140,602	C189R	probably damaging	Het
Pla2g15	G	T	8: 106,160,196	Q106H	probably benign	Het
Pla2g4c	T	A	7: 13,330,094	S93T	probably damaging	Het
Rbks	G	T	5: 31,651,801		probably benign	Het
Retsat	A	G	6: 72,603,659	T207A	possibly damaging	Het
Slc25a32	A	G	15: 39,099,905	Y174H	probably benign	Het
Slc35f2	T	A	9: 53,809,742		probably benign	Het
Snx19	A	G	9: 30,432,260	N572S	possibly damaging	Het
Sos2	A	G	12: 69,617,184	Y476H	probably benign	Het
Ssh2	A	T	11: 77,425,587	N296I	probably damaging	Het
Sspo	G	T	6: 48,482,667	R3320L	probably benign	Het
Synj2	A	G	17: 5,996,917	I166V	probably benign	Het
Tpp2	T	C	1: 43,940,231	V96A	probably benign	Het
Vmn2r3	A	T	3: 64,275,610	W223R	probably damaging	Het
Wdr17	T	C	8: 54,693,054		probably null	Het
Zfr2	T	A	10: 81,244,712	C407S	probably damaging	Het

Other mutations in Olfr193

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Olfr193	APN	16	59110598	missense	probably benign
IGL01613:Olfr193	APN	16	59109921	missense	probably damaging	1.00
IGL02280:Olfr193	APN	16	59110332	missense	probably damaging	1.00
IGL02533:Olfr193	APN	16	59109684	missense	probably benign
IGL02544:Olfr193	APN	16	59110144	missense	probably damaging	1.00
IGL02576:Olfr193	APN	16	59109771	missense	probably benign
IGL03215:Olfr193	APN	16	59109962	missense	possibly damaging	0.46
IGL03272:Olfr193	APN	16	59110556	missense	probably benign	0.01
PIT4802001:Olfr193	UTSW	16	59110601	missense	probably benign
R0544:Olfr193	UTSW	16	59110225	missense	probably benign	0.03
R0783:Olfr193	UTSW	16	59110169	nonsense	probably null
R1070:Olfr193	UTSW	16	59109819	missense	probably benign	0.08
R1211:Olfr193	UTSW	16	59110160	missense	possibly damaging	0.68
R1662:Olfr193	UTSW	16	59110604	missense	probably benign	0.00
R1754:Olfr193	UTSW	16	59110581	missense	probably benign	0.03
R1765:Olfr193	UTSW	16	59109755	missense	probably damaging	1.00
R1937:Olfr193	UTSW	16	59109794	missense	probably benign	0.11
R2875:Olfr193	UTSW	16	59109802	missense	probably benign	0.01
R2910:Olfr193	UTSW	16	59110181	missense	probably benign	0.00
R2911:Olfr193	UTSW	16	59110181	missense	probably benign	0.00
R5084:Olfr193	UTSW	16	59110073	missense	possibly damaging	0.90
R5700:Olfr193	UTSW	16	59109993	missense	probably damaging	0.99
R7018:Olfr193	UTSW	16	59110607	start codon destroyed	probably null	0.98
R7083:Olfr193	UTSW	16	59110037	missense	probably damaging	1.00
R7572:Olfr193	UTSW	16	59110430	missense	probably damaging	1.00
R7720:Olfr193	UTSW	16	59109771	missense	probably benign
R8045:Olfr193	UTSW	16	59110039	missense	probably benign	0.01

Posted On

2015-04-16