Mutagenetix > Incidental Mutation

Incidental Mutation 'R3874:Olfr517'

276725

Institutional Source

Beutler Lab

Gene Symbol

Olfr517

Ensembl Gene

ENSMUSG00000066240

Gene Name

olfactory receptor 517

Synonyms

GA_x6K02T2PBJ9-11199311-11198367, MOR268-4

MMRRC Submission

040792-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R3874 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108867208-108872379 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108869128 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 9 (V9M)

Ref Sequence

ENSEMBL: ENSMUSP00000150980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084753] [ENSMUST00000216500]

AlphaFold

Q7TRU4

Predicted Effect

probably damaging
Transcript: ENSMUST00000084753
AA Change: V9M

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081805
Gene: ENSMUSG00000066240
AA Change: V9M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	7.4e-60	PFAM
Pfam:7tm_1	41	299	4.1e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207346

Predicted Effect

probably damaging
Transcript: ENSMUST00000216500
AA Change: V9M

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130213A22Rik	C	A	11: 69,121,475	G26*	probably null	Het
Abca5	T	A	11: 110,310,233	Y447F	probably damaging	Het
Acox2	A	G	14: 8,248,061	I407T	probably benign	Het
Adam8	T	C	7: 139,987,607	N408D	probably damaging	Het
Adgre1	A	T	17: 57,401,925	T39S	probably benign	Het
Akap12	G	A	10: 4,357,590	V1467I	probably benign	Het
Arid1b	T	A	17: 5,336,515		probably null	Het
Atp2c2	A	G	8: 119,735,296	I303V	possibly damaging	Het
Bpifc	C	T	10: 85,991,254	V144I	probably benign	Het
C530008M17Rik	A	G	5: 76,840,892	D30G	probably damaging	Het
Camk4	A	G	18: 33,158,854	E189G	possibly damaging	Het
Casz1	A	G	4: 148,939,589		probably benign	Het
Ccdc134	T	C	15: 82,131,442	V41A	possibly damaging	Het
Chrd	A	T	16: 20,738,910	T753S	probably damaging	Het
Cyb561a3	T	C	19: 10,585,371	V125A	probably benign	Het
D630039A03Rik	T	A	4: 57,910,606	T69S	probably benign	Het
Dchs1	A	G	7: 105,761,635	F1687S	probably damaging	Het
Dlgap4	T	C	2: 156,749,347	S818P	probably benign	Het
Dnah2	A	G	11: 69,429,348	I3965T	probably damaging	Het
Dnaic2	G	T	11: 114,732,955	G15W	probably damaging	Het
Dsg1c	A	G	18: 20,277,052	I526V	probably benign	Het
Far2	G	A	6: 148,150,591	E123K	probably benign	Het
Gli1	A	T	10: 127,330,219	V1055E	probably damaging	Het
Hand2	G	T	8: 57,321,976	A24S	probably benign	Het
Helb	T	C	10: 120,106,037	I249V	probably benign	Het
Hspa4l	G	A	3: 40,772,642	V492M	probably damaging	Het
Hspg2	T	C	4: 137,539,349	I1916T	probably damaging	Het
Igfals	G	A	17: 24,881,605	V557I	possibly damaging	Het
Itpa	T	G	2: 130,681,010	S176A	probably damaging	Het
Kcnu1	T	A	8: 25,885,317	L353H	probably damaging	Het
Klhl1	A	G	14: 96,518,179	F47L	probably benign	Het
Klhl13	T	C	X: 23,285,176	D21G	probably benign	Het
Krt26	T	C	11: 99,334,744	K304E	probably damaging	Het
Krt9	C	T	11: 100,190,849	V285I	probably damaging	Het
Mansc1	T	C	6: 134,610,183	R344G	possibly damaging	Het
Mier2	G	T	10: 79,541,797	P439T	possibly damaging	Het
Mppe1	T	A	18: 67,225,886		probably null	Het
Nedd4l	G	A	18: 65,167,535	A243T	probably benign	Het
Notch4	T	A	17: 34,578,069	C934*	probably null	Het
Nsmce3	C	T	7: 64,872,168	D251N	probably damaging	Het
Olfr101	T	A	17: 37,299,979	T148S	probably benign	Het
Olfr1156	T	A	2: 87,949,530	R234S	probably damaging	Het
Olfr1310	T	C	2: 112,008,323	T288A	possibly damaging	Het
Olfr139	A	G	11: 74,044,699	C192R	probably damaging	Het
Olfr937	A	G	9: 39,060,174	I164T	probably benign	Het
Pdzd7	T	C	19: 45,045,628	T6A	probably benign	Het
Picalm	T	A	7: 90,189,219	F493Y	probably damaging	Het
Prl7d1	A	G	13: 27,716,668	M1T	probably null	Het
Prl8a1	T	C	13: 27,575,458	K199E	possibly damaging	Het
Rims1	C	T	1: 22,428,489	R764H	probably damaging	Het
Rnf17	G	T	14: 56,475,413	R779L	possibly damaging	Het
Rufy2	T	C	10: 62,998,137	L294P	probably damaging	Het
Sgsh	A	G	11: 119,350,947	L111P	probably damaging	Het
Slc22a30	G	T	19: 8,336,849	T491K	probably benign	Het
Slc35b3	T	C	13: 38,943,068	N20D	possibly damaging	Het
Slc5a4a	T	C	10: 76,181,655	F429L	probably benign	Het
Sulf1	T	C	1: 12,817,412	I270T	probably damaging	Het
Tmem51	T	C	4: 142,031,748	T230A	probably damaging	Het
Tnc	T	A	4: 64,008,710	I860F	probably damaging	Het
Trh	A	T	6: 92,243,698	V61E	possibly damaging	Het
Ttn	T	G	2: 76,754,099	T22222P	probably damaging	Het
Uroc1	A	T	6: 90,361,512	K652*	probably null	Het
Usp34	C	T	11: 23,489,033	P3532S	possibly damaging	Het
Vmn2r120	A	T	17: 57,524,954	F278L	probably benign	Het
Vmn2r7	A	G	3: 64,719,611	F86L	possibly damaging	Het
Vmn2r87	A	T	10: 130,479,987	I70K	possibly damaging	Het
Vps13a	C	T	19: 16,744,953	A332T	probably benign	Het
Zfp568	T	A	7: 30,023,396	C589S	probably damaging	Het

Other mutations in Olfr517

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01284:Olfr517	APN	7	108868275	missense	possibly damaging	0.94
IGL01866:Olfr517	APN	7	108868799	missense	possibly damaging	0.95
IGL02131:Olfr517	APN	7	108868208	makesense	probably null
IGL02456:Olfr517	APN	7	108869050	missense	probably benign	0.19
IGL02604:Olfr517	APN	7	108868650	missense	probably benign	0.00
IGL02975:Olfr517	APN	7	108868855	nonsense	probably null
R0084:Olfr517	UTSW	7	108868800	missense	probably damaging	0.98
R0504:Olfr517	UTSW	7	108868850	missense	possibly damaging	0.91
R0748:Olfr517	UTSW	7	108869150	start codon destroyed	probably null	1.00
R1428:Olfr517	UTSW	7	108868960	missense	probably damaging	0.99
R1907:Olfr517	UTSW	7	108868498	missense	possibly damaging	0.78
R2292:Olfr517	UTSW	7	108869016	missense	probably benign	0.05
R4091:Olfr517	UTSW	7	108868443	missense	probably damaging	1.00
R4873:Olfr517	UTSW	7	108868786	missense	probably damaging	0.99
R4875:Olfr517	UTSW	7	108868786	missense	probably damaging	0.99
R5440:Olfr517	UTSW	7	108868626	missense	probably damaging	1.00
R5920:Olfr517	UTSW	7	108868688	missense	probably benign
R6723:Olfr517	UTSW	7	108868588	missense	probably damaging	1.00
R6730:Olfr517	UTSW	7	108868573	missense	probably benign	0.09
R6892:Olfr517	UTSW	7	108868515	missense	probably damaging	1.00
R7473:Olfr517	UTSW	7	108868269	missense	probably damaging	0.98
R8160:Olfr517	UTSW	7	108868788	missense	possibly damaging	0.74
R8213:Olfr517	UTSW	7	108868519	missense	probably benign
R8330:Olfr517	UTSW	7	108868839	missense	probably damaging	1.00
R8913:Olfr517	UTSW	7	108868602	missense	probably damaging	1.00
R9231:Olfr517	UTSW	7	108868633	missense	possibly damaging	0.55
R9585:Olfr517	UTSW	7	108868345	missense	probably benign	0.20
R9664:Olfr517	UTSW	7	108868356	missense	probably damaging	1.00
R9778:Olfr517	UTSW	7	108868491	missense	probably damaging	0.98
Z1186:Olfr517	UTSW	7	108868936	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TCAGGCATAACAGTTGTGCTG -3'
(R):5'- CCAATTGTGTAGCTATTCTCCAAACTC -3'

Sequencing Primer
(F):5'- AGTTGTGCTGAAGCCAGTCTCC -3'
(R):5'- TGAATGGAAGCTAGAGCC -3'

Posted On

2015-04-06