Mutagenetix > Incidental Mutation

Incidental Mutation 'R2105:Olfr293'

230872

Institutional Source

Beutler Lab

Gene Symbol

Olfr293

Ensembl Gene

ENSMUSG00000063394

Gene Name

olfactory receptor 293

Synonyms

GA_x6K02T2NHDJ-9457744-9456734, MOR221-3

MMRRC Submission

040109-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R2105 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86649061-86666045 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86664383 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 240 (K240N)

Ref Sequence

ENSEMBL: ENSMUSP00000149959 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081474] [ENSMUST00000214401] [ENSMUST00000215280]

AlphaFold

Q7TS10

Predicted Effect

probably damaging
Transcript: ENSMUST00000081474
AA Change: K240N

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

SMART Domains

Protein: ENSMUSP00000080193
Gene: ENSMUSG00000063394
AA Change: K240N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	313	2.1e-45	PFAM
Pfam:7tm_1	45	295	1.6e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214401
AA Change: K240N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215280
AA Change: K240N

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,673,500	P1189L	probably benign	Het
Acbd4	G	A	11: 103,104,439	D57N	probably damaging	Het
Acot4	A	T	12: 84,038,742	M78L	probably damaging	Het
Ago1	A	T	4: 126,461,788	M76K	probably benign	Het
Agrn	G	T	4: 156,177,299	Y511*	probably null	Het
Arhgef15	A	T	11: 68,947,681		probably null	Het
Atp1a3	A	T	7: 24,989,853	M594K	probably damaging	Het
Atp4a	G	A	7: 30,720,368		probably null	Het
Bckdk	T	A	7: 127,907,317	I272N	probably damaging	Het
Bod1l	A	G	5: 41,832,279	V367A	probably benign	Het
C1galt1c1	T	C	X: 38,631,268	M284V	possibly damaging	Het
Cenpk	T	A	13: 104,229,597	C4*	probably null	Het
Cfap53	T	C	18: 74,283,223	V9A	possibly damaging	Het
Chil3	T	C	3: 106,160,478	I124V	possibly damaging	Het
Creld2	G	A	15: 88,820,631	W103*	probably null	Het
Cyp2c67	T	C	19: 39,626,237	Y282C	probably benign	Het
D5Ertd579e	C	T	5: 36,613,449	A1201T	probably benign	Het
Dock4	A	G	12: 40,692,989	H381R	probably benign	Het
Drc1	C	T	5: 30,356,441	S447F	probably benign	Het
Fam83g	G	T	11: 61,703,458	R606L	probably benign	Het
Fmnl1	A	C	11: 103,194,692	S688R	probably benign	Het
Fryl	C	T	5: 73,122,299	V219I	probably benign	Het
Gm13101	A	T	4: 143,965,820	Y204N	probably benign	Het
Golgb1	T	A	16: 36,914,664	N1424K	probably benign	Het
Gpr39	T	C	1: 125,677,884	V183A	possibly damaging	Het
H2-T22	A	T	17: 36,040,517	Y274N	probably benign	Het
Hif1a	T	A	12: 73,937,745	Y313N	probably damaging	Het
Hip1r	T	A	5: 124,000,204	M787K	probably damaging	Het
Hipk3	T	C	2: 104,439,392	E484G	probably damaging	Het
Hsh2d	T	A	8: 72,200,646	F291I	probably benign	Het
Ino80	T	C	2: 119,431,929	E692G	probably null	Het
Itgam	T	A	7: 128,081,712	V271D	probably damaging	Het
Kansl1	A	C	11: 104,335,559	I924S	probably damaging	Het
Kcnq2	A	G	2: 181,081,352	C628R	probably benign	Het
Krt78	A	C	15: 101,947,414	V654G	possibly damaging	Het
Lrit2	A	G	14: 37,071,956	T326A	probably damaging	Het
Ltk	T	C	2: 119,752,088	E710G	probably damaging	Het
Lysmd1	T	C	3: 95,134,974	L53S	probably damaging	Het
Mc4r	T	C	18: 66,859,598	Y148C	probably damaging	Het
Mfn2	G	A	4: 147,888,705	Q172*	probably null	Het
Mknk2	A	G	10: 80,668,601	L242P	possibly damaging	Het
Mrpl45	A	T	11: 97,325,747	H167L	probably benign	Het
Myc	T	C	15: 61,988,102	V208A	probably damaging	Het
Myh7b	A	G	2: 155,629,457	E1175G	probably benign	Het
Myo18a	A	T	11: 77,850,234	M1456L	probably benign	Het
Myocd	G	A	11: 65,218,658	Q96*	probably null	Het
Nckap5	T	A	1: 126,026,518	I766F	probably damaging	Het
Ndst1	T	C	18: 60,691,253	E784G	probably benign	Het
Nf1	A	T	11: 79,469,826	R1443S	possibly damaging	Het
Nhlrc3	A	G	3: 53,453,651	W228R	probably damaging	Het
Nup107	G	A	10: 117,773,320	T378I	probably damaging	Het
Olfr1033	C	T	2: 86,041,330	T5I	probably damaging	Het
Olfr1131	A	G	2: 87,628,939	T159A	probably benign	Het
Olfr524	T	A	7: 140,202,743	D9V	probably benign	Het
Olfr607	T	A	7: 103,460,273		probably null	Het
Olfr98	A	T	17: 37,263,073	M197K	probably benign	Het
Otop1	A	G	5: 38,300,458	D520G	probably benign	Het
Papln	C	T	12: 83,780,236	P712S	probably benign	Het
Pcbd2	T	A	13: 55,733,033	I34N	probably damaging	Het
Pkd1l3	T	A	8: 109,647,573	C29*	probably null	Het
Pou5f1	G	A	17: 35,510,002	V114M	probably benign	Het
Prpf4b	C	A	13: 34,884,231		probably benign	Het
Prr23a1	C	T	9: 98,842,656	P24S	probably damaging	Het
Ptch1	T	A	13: 63,545,245	M65L	probably benign	Het
Rc3h2	A	T	2: 37,399,624	I392K	possibly damaging	Het
Reck	G	T	4: 43,943,195	D916Y	probably damaging	Het
Rtf2	A	G	2: 172,445,365	D68G	probably damaging	Het
Ryr1	G	T	7: 29,090,150	T1513K	probably damaging	Het
Sacs	A	G	14: 61,173,441	D55G	possibly damaging	Het
Scn9a	A	G	2: 66,568,183	S28P	probably benign	Het
Scrn3	A	G	2: 73,329,852	M280V	probably damaging	Het
Snx29	C	T	16: 11,511,034	T559I	possibly damaging	Het
Spn	C	T	7: 127,136,241	E109K	probably damaging	Het
Sra1	C	T	18: 36,675,068	R369H	probably benign	Het
Srsf11	C	T	3: 158,019,345	A64T	probably damaging	Het
Stk17b	A	G	1: 53,776,605	S12P	probably benign	Het
Sult1d1	C	A	5: 87,559,802	G153V	probably damaging	Het
Sycp2	A	T	2: 178,350,138		probably null	Het
Tgfb3	T	C	12: 86,069,769	E165G	possibly damaging	Het
Tns2	C	A	15: 102,107,506	H160N	probably benign	Het
Ubn1	T	A	16: 5,077,224	C711*	probably null	Het
Usp13	A	T	3: 32,901,986	D469V	probably damaging	Het
Vmn1r231	A	T	17: 20,890,118	H178Q	possibly damaging	Het
Vwa1	A	G	4: 155,772,793	S183P	probably damaging	Het
Xpo7	A	G	14: 70,690,991	I424T	probably benign	Het
Zfp109	A	G	7: 24,236,616		probably null	Het

Other mutations in Olfr293

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02478:Olfr293	APN	7	86664136	missense	probably damaging	0.97
IGL02659:Olfr293	APN	7	86664081	missense	probably benign	0.06
IGL02730:Olfr293	APN	7	86664067	missense	probably damaging	0.98
IGL02959:Olfr293	APN	7	86664529	missense	probably damaging	0.98
R0045:Olfr293	UTSW	7	86664340	missense	possibly damaging	0.90
R0094:Olfr293	UTSW	7	86664294	missense	probably benign
R0094:Olfr293	UTSW	7	86664294	missense	probably benign
R0152:Olfr293	UTSW	7	86664511	missense	probably damaging	1.00
R0669:Olfr293	UTSW	7	86664336	missense	possibly damaging	0.79
R0942:Olfr293	UTSW	7	86664106	missense	probably damaging	0.98
R1467:Olfr293	UTSW	7	86663977	missense	possibly damaging	0.90
R1467:Olfr293	UTSW	7	86663977	missense	possibly damaging	0.90
R1656:Olfr293	UTSW	7	86664123	missense	probably benign	0.04
R2010:Olfr293	UTSW	7	86664603	missense	probably benign
R2056:Olfr293	UTSW	7	86664383	missense	probably damaging	1.00
R2059:Olfr293	UTSW	7	86664383	missense	probably damaging	1.00
R4166:Olfr293	UTSW	7	86664394	missense	probably damaging	1.00
R4303:Olfr293	UTSW	7	86663955	missense	probably benign	0.16
R4531:Olfr293	UTSW	7	86664271	missense	probably benign	0.02
R4808:Olfr293	UTSW	7	86663938	missense	probably benign	0.00
R5748:Olfr293	UTSW	7	86664085	missense	possibly damaging	0.61
R5937:Olfr293	UTSW	7	86664476	missense	probably benign	0.00
R6178:Olfr293	UTSW	7	86664611	missense	probably benign	0.45
R6766:Olfr293	UTSW	7	86664085	missense	probably damaging	0.98
R7315:Olfr293	UTSW	7	86664237	missense	probably damaging	0.99
R7585:Olfr293	UTSW	7	86664672	makesense	probably null
R9201:Olfr293	UTSW	7	86664541	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GACATCCCCTCTTTGCTGAG -3'
(R):5'- TCTTCCTCTTGAAAACTCTGACAAG -3'

Sequencing Primer
(F):5'- GAGGCTTTCTTGCTCTGACAC -3'
(R):5'- CTCTTGAAAACTCTGACAAGTACTC -3'

Posted On

2014-09-18