Mutagenetix > Incidental Mutation

Incidental Mutation 'R8213:Olfr517'

636258

Institutional Source

Beutler Lab

Gene Symbol

Olfr517

Ensembl Gene

ENSMUSG00000066240

Gene Name

olfactory receptor 517

Synonyms

GA_x6K02T2PBJ9-11199311-11198367, MOR268-4

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R8213 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108867208-108872379 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 108868519 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 212 (V212L)

Ref Sequence

ENSEMBL: ENSMUSP00000081805 (fasta)

Gene Model

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

AlphaFold

Q7TRU4

Predicted Effect

probably benign
Transcript: ENSMUST00000084753
AA Change: V212L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000081805
Gene: ENSMUSG00000066240
AA Change: V212L

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (65/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	C	15: 60,919,756	Y277C	probably damaging	Het
Acss1	T	A	2: 150,619,710	D651V	possibly damaging	Het
Aktip	G	T	8: 91,124,866	P243H	possibly damaging	Het
Arl11	T	G	14: 61,311,265	S175A	probably benign	Het
Aup1	A	G	6: 83,054,607		probably benign	Het
Avil	A	T	10: 127,008,321	I250F	probably damaging	Het
Btnl6	A	T	17: 34,508,883		probably null	Het
C77080	A	T	4: 129,221,459	V1070D	possibly damaging	Het
Ccdc7b	C	A	8: 129,178,291	Q137K	probably benign	Het
Cdk11b	G	A	4: 155,639,881	E319K	unknown	Het
Chka	A	C	19: 3,885,882	E196A	probably damaging	Het
Depdc5	C	T	5: 32,937,637	R753C	probably damaging	Het
Dhx57	T	A	17: 80,275,156	D340V	possibly damaging	Het
Dicer1	A	T	12: 104,702,693	D1243E	probably benign	Het
Dnajb9	A	T	12: 44,207,133	L164M	probably benign	Het
Dock6	A	G	9: 21,831,444	V785A	possibly damaging	Het
Efcab5	T	C	11: 77,116,071	Y909C	probably damaging	Het
Erp44	A	T	4: 48,208,783	S226T	probably benign	Het
Fgd6	A	T	10: 94,044,052	D256V	probably benign	Het
Fhl5	A	T	4: 25,207,113	Y218*	probably null	Het
Filip1	C	A	9: 79,818,092	A1082S	probably benign	Het
Gm13088	T	A	4: 143,654,185	M423L	probably benign	Het
Gm13128	A	T	4: 144,330,460	D71V	probably benign	Het
Heatr5a	G	A	12: 51,891,443	T1484M	probably damaging	Het
Herc1	G	T	9: 66,450,888	R2417L	probably damaging	Het
Hnrnpr	A	G	4: 136,317,175		probably benign	Het
Igsf5	A	T	16: 96,372,988	I73F	probably damaging	Het
Il17ra	T	C	6: 120,473,034	V91A	probably benign	Het
Inpp5f	A	G	7: 128,679,805	D510G	probably damaging	Het
Kbtbd3	A	G	9: 4,331,269	K548E	probably damaging	Het
Kdm5d	T	A	Y: 941,515	C1239S	probably damaging	Het
Mamdc4	G	A	2: 25,566,356	T709M	probably benign	Het
Mybbp1a	T	A	11: 72,444,721	Y353N	probably damaging	Het
Nepn	A	T	10: 52,391,759	E40D	probably benign	Het
Npat	G	T	9: 53,570,570	E1193*	probably null	Het
Nrde2	G	A	12: 100,131,003	S846L	probably benign	Het
Nup205	T	C	6: 35,225,203	V1290A	probably benign	Het
Olfr1009	T	A	2: 85,721,501	L32Q	probably null	Het
Olfr1424	A	G	19: 12,059,092	V220A	probably benign	Het
Pde6a	A	T	18: 61,220,696	K31M	possibly damaging	Het
Pms2	C	T	5: 143,914,771	R169C	probably damaging	Het
Polr2g	A	T	19: 8,798,257	L30Q	probably damaging	Het
Prdm15	T	A	16: 97,807,060	H679L	probably damaging	Het
Prl4a1	T	G	13: 28,023,386	Y214*	probably null	Het
Prlr	C	T	15: 10,329,242	T601M	possibly damaging	Het
Psen2	A	C	1: 180,245,691	S22A	probably benign	Het
Ralgapa1	C	A	12: 55,722,914	R764L	probably damaging	Het
Scgb2b11	T	C	7: 32,209,408	E89G	probably damaging	Het
Serpina10	T	C	12: 103,628,277	I228V	probably benign	Het
Serpinb1a	T	A	13: 32,842,999	H320L	probably damaging	Het
Sesn2	C	A	4: 132,498,053	Q267H	possibly damaging	Het
Sgsm1	A	T	5: 113,251,011	W1019R	probably damaging	Het
Sqle	A	G	15: 59,321,302		probably null	Het
Syt14	T	C	1: 192,986,829	M39V	probably benign	Het
Tgm7	A	G	2: 121,101,064	V206A	probably damaging	Het
Thbs4	T	C	13: 92,760,586		probably null	Het
Trpv1	T	C	11: 73,254,251	F721S	probably damaging	Het
Ttll10	A	T	4: 156,036,234	M433K	probably benign	Het
Vmn1r216	T	C	13: 23,099,525	I126T	probably benign	Het
Vmn2r108	G	A	17: 20,470,088	S494F	probably benign	Het
Vwa3b	C	T	1: 37,128,939	A603V	probably benign	Het
Xirp2	T	A	2: 67,476,866	N19K	probably damaging	Het
Zfp397	T	A	18: 23,960,722	N421K	probably damaging	Het
Zscan5b	C	T	7: 6,233,947	P232S	possibly 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
R3874:Olfr517	UTSW	7	108869128	missense	probably damaging	0.98
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
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'- AGCCAATGACATCAGTTTCTTGG -3'
(R):5'- AGTGACATGCTCATGGCTCTC -3'

Sequencing Primer
(F):5'- CAATGACATCAGTTTCTTGGTGTCTG -3'
(R):5'- TGGCTCTCAGGAACCATGATGAC -3'

Posted On

2020-07-13