Mutagenetix > Incidental Mutations

Incidental Mutation 'R6991:Olfr493'

543843

Institutional Source

Beutler Lab

Gene Symbol

Olfr493

Ensembl Gene

ENSMUSG00000093980

Gene Name

olfactory receptor 493

Synonyms

MOR204-35, GA_x6K02T2PBJ9-10676998-10676054

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R6991 (G1)

Quality Score

213.009

Status

Not validated

Chromosome

Chromosomal Location

108346035-108346979 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108346088 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 298 (N298Y)

Ref Sequence

ENSEMBL: ENSMUSP00000079005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080106]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080106
AA Change: N298Y

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079005
Gene: ENSMUSG00000093980
AA Change: N298Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	7.1e-55	PFAM
Pfam:7tm_1	44	293	1.1e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,580,446	V278D	probably damaging	Het
2410089E03Rik	A	G	15: 8,252,206	E2843G	unknown	Het
9930021J03Rik	A	G	19: 29,719,108	L995S	possibly damaging	Het
Akap12	G	T	10: 4,357,122	E1311*	probably null	Het
Ankdd1a	T	A	9: 65,508,675	D186V	probably benign	Het
Birc6	A	G	17: 74,562,095	E346G	probably damaging	Het
Ccr7	A	C	11: 99,145,304	V264G	probably damaging	Het
Col7a1	T	C	9: 108,983,919		probably null	Het
Coq8a	T	C	1: 180,179,068	T132A	probably benign	Het
Cyp2b10	G	A	7: 25,917,355	S407N	probably benign	Het
Ddi2	A	G	4: 141,685,250	V117A	probably benign	Het
Ddx42	G	A	11: 106,239,144	V421I	probably damaging	Het
Dip2c	C	T	13: 9,634,832	S1232F	probably damaging	Het
Dip2c	T	A	13: 9,551,860	L285*	probably null	Het
Dner	T	A	1: 84,476,402	R402*	probably null	Het
Dpysl3	A	T	18: 43,353,891	I317N	probably damaging	Het
Dusp23	T	A	1: 172,631,657	Y146F	probably benign	Het
Eef1a2	C	A	2: 181,148,628	V412L	possibly damaging	Het
Epha7	C	T	4: 28,821,489	T218I	probably damaging	Het
Gigyf2	T	A	1: 87,407,136	C284S	probably damaging	Het
Gm16427	T	A	5: 93,484,374	N107I	probably damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,649,576		probably benign	Het
Hao2	T	A	3: 98,876,752	E327V	probably damaging	Het
Hdhd5	A	G	6: 120,510,169	V409A	probably damaging	Het
Kif9	T	C	9: 110,494,622	Y236H	probably damaging	Het
Kri1	T	C	9: 21,287,754		probably benign	Het
Lig4	A	T	8: 9,971,098	V894E	probably damaging	Het
Lrriq1	T	C	10: 103,187,458	N982S	probably damaging	Het
Mapk8	T	C	14: 33,410,884	I32V	possibly damaging	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mstn	T	C	1: 53,061,941	I59T	probably benign	Het
Mtrf1l	T	C	10: 5,813,384	E315G	probably damaging	Het
Notch4	G	T	17: 34,584,800	E1515*	probably null	Het
Npw	A	C	17: 24,658,055	V124G	probably benign	Het
Nxph3	A	G	11: 95,511,418	S57P	probably damaging	Het
Olfr1000	T	C	2: 85,608,248	I221V	possibly damaging	Het
Olfr1145	G	A	2: 87,810,443	D208N	possibly damaging	Het
Olfr1443	G	T	19: 12,680,748	L213F	probably benign	Het
Olfr677	T	C	7: 105,056,564	I106T	probably damaging	Het
Opn4	A	T	14: 34,593,907	L390M	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pla2g2e	G	A	4: 138,880,675	C62Y	probably damaging	Het
Plcb4	G	A	2: 135,910,194	V107M	probably damaging	Het
Prorsd1	A	C	11: 29,514,486		probably benign	Het
Prox2	A	G	12: 85,087,391	L587P	probably benign	Het
Prr22	A	G	17: 56,771,345	D166G	possibly damaging	Het
Ptprz1	G	A	6: 23,002,687	R1592Q	probably benign	Het
Rarg	C	G	15: 102,241,915	R74P	probably damaging	Het
Rcan1	A	G	16: 92,397,363	V54A	probably benign	Het
Rmdn2	A	G	17: 79,621,310		probably benign	Het
Sec16a	G	A	2: 26,430,486	R1361C	probably damaging	Het
Serpina1a	T	C	12: 103,853,833	T385A	probably benign	Het
Slc44a3	T	C	3: 121,532,165	Y12C	probably benign	Het
Smg1	C	A	7: 118,167,868		probably benign	Het
Spock3	A	G	8: 63,355,381	*437W	probably null	Het
Sugct	T	A	13: 17,554,380	Q220H	probably benign	Het
Tesk1	A	G	4: 43,447,006	T465A	probably benign	Het
Tnks	C	A	8: 34,834,493	R1274I	probably damaging	Het
Trp53bp1	C	T	2: 121,208,040	R1439H	probably damaging	Het
Vmn1r16	G	T	6: 57,322,884	S251*	probably null	Het
Vmn2r15	T	A	5: 109,293,314	Q226L	probably damaging	Het
Vmn2r67	T	G	7: 85,155,745	Y53S	possibly damaging	Het
Vmn2r99	A	G	17: 19,378,110	N132S	probably benign	Het
Wdr73	T	G	7: 80,891,856	T313P	probably benign	Het
Zfp65	C	T	13: 67,708,521	R213Q	probably damaging	Het

Other mutations in Olfr493

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Olfr493	APN	7	108346949	missense	probably benign	0.00
IGL02087:Olfr493	APN	7	108346966	missense	probably benign
IGL02484:Olfr493	APN	7	108346606	missense	probably damaging	1.00
IGL02961:Olfr493	APN	7	108346127	missense	probably benign	0.08
IGL03379:Olfr493	APN	7	108346989	unclassified	probably benign
PIT4486001:Olfr493	UTSW	7	108346322	missense	possibly damaging	0.95
R0281:Olfr493	UTSW	7	108346914	missense	probably benign	0.00
R0285:Olfr493	UTSW	7	108346499	missense	probably benign	0.02
R1222:Olfr493	UTSW	7	108346106	missense	probably damaging	1.00
R1912:Olfr493	UTSW	7	108346807	missense	probably damaging	0.98
R4178:Olfr493	UTSW	7	108346558	missense	probably benign	0.00
R5239:Olfr493	UTSW	7	108346646	missense	probably benign	0.03
R5421:Olfr493	UTSW	7	108346975	missense	probably benign	0.00
R5452:Olfr493	UTSW	7	108346105	missense	probably damaging	1.00
R7372:Olfr493	UTSW	7	108346496	missense	probably benign	0.00
R7374:Olfr493	UTSW	7	108346888	missense	probably damaging	1.00
R7571:Olfr493	UTSW	7	108346482	missense	probably benign	0.00
R8232:Olfr493	UTSW	7	108346288	missense	probably damaging	0.97
R8354:Olfr493	UTSW	7	108346682	missense	probably damaging	1.00
R8454:Olfr493	UTSW	7	108346682	missense	probably damaging	1.00
X0025:Olfr493	UTSW	7	108346601	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTGAGGCTTTAAAGACCATATAGTC -3'
(R):5'- GGTCATAGCCATTTCCTACACC -3'

Sequencing Primer
(F):5'- CACATTGTACTAATACTCATGCTACC -3'
(R):5'- ATCCTGAAGATGCGCTCCACTG -3'

Posted On

2019-05-13