Mutagenetix > Incidental Mutation

Incidental Mutation 'R8472:Olfr518'

657075

Institutional Source

Beutler Lab

Gene Symbol

Olfr518

Ensembl Gene

ENSMUSG00000046431

Gene Name

olfactory receptor 518

Synonyms

MOR268-5, GA_x6K02T2PBJ9-11211854-11210853

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R8472 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108880188-108885006 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108880766 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 280 (Q280L)

Ref Sequence

ENSEMBL: ENSMUSP00000151883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059617] [ENSMUST00000217803]

AlphaFold

Q8VEW1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059617
AA Change: Q280L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050503
Gene: ENSMUSG00000046431
AA Change: Q280L

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
Pfam:7tm_4	50	327	7.1e-60	PFAM
Pfam:7tm_1	60	318	1.4e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217803
AA Change: Q280L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	A	7: 12,512,641	H21Q	possibly damaging	Het
Ccdc7a	A	G	8: 129,027,657	S152P	probably damaging	Het
Ccnj	T	C	19: 40,845,164	S222P	probably damaging	Het
Cdcp2	C	T	4: 107,102,784	A132V	probably damaging	Het
Cnksr3	G	T	10: 7,134,532	P71Q	probably damaging	Het
Col9a3	C	T	2: 180,605,264	P185L	probably damaging	Het
Cpm	T	C	10: 117,679,978	V319A	probably damaging	Het
Ctxn2	A	G	2: 125,147,608	I52V	possibly damaging	Het
Cyp2c66	A	T	19: 39,176,577	H334L	probably benign	Het
Dab1	A	G	4: 104,479,242	K12E	possibly damaging	Het
Emsy	T	C	7: 98,654,830		probably benign	Het
Etv4	G	T	11: 101,784,001	D56E	probably damaging	Het
Exoc3l2	C	T	7: 19,481,265	R484*	probably null	Het
Extl1	A	G	4: 134,371,292	C143R	probably benign	Het
Fat3	T	C	9: 16,375,267	I987V	possibly damaging	Het
Fbn1	A	C	2: 125,309,802	C2511G	probably damaging	Het
Fer	T	A	17: 63,973,149	S72T	probably benign	Het
Gdf2	A	G	14: 33,944,840	D173G	probably damaging	Het
Gm11639	A	T	11: 104,818,637	D1815V	probably benign	Het
Gm6614	T	G	6: 142,003,389	H87P	probably damaging	Het
Grhl3	T	C	4: 135,556,865	E222G	probably benign	Het
Gria1	A	T	11: 57,327,584	M819L	probably benign	Het
Gsap	A	T	5: 21,222,434	R187*	probably null	Het
Heatr6	A	G	11: 83,765,853	N314D	probably benign	Het
Hspd1	T	C	1: 55,078,346	D555G	probably benign	Het
Ighv3-4	T	C	12: 114,254,029	Y8C	probably benign	Het
Lcmt2	A	G	2: 121,140,248	V118A	probably damaging	Het
Lmf2	T	C	15: 89,354,802	E37G	possibly damaging	Het
Macf1	A	G	4: 123,453,002	L1161P	probably damaging	Het
Mbip	T	A	12: 56,330,269		probably null	Het
Mgam	A	T	6: 40,694,526		probably null	Het
Mmrn1	G	A	6: 60,988,396	S1136N	probably damaging	Het
Mms22l	T	C	4: 24,502,943	V73A	possibly damaging	Het
Mtbp	C	T	15: 55,586,352	L24F	probably damaging	Het
Ncr1	T	A	7: 4,338,121	I37N	probably benign	Het
Nkx3-1	A	G	14: 69,192,058	N175S	probably damaging	Het
Nlrp4f	A	G	13: 65,194,331	I500T	possibly damaging	Het
Olfr397	C	T	11: 73,965,397	S263L	possibly damaging	Het
Olfr820	A	G	10: 130,017,576	T72A	probably damaging	Het
Pcdha2	A	G	18: 36,941,272	D652G	probably damaging	Het
Pde6a	T	A	18: 61,220,946	N114K	probably damaging	Het
Pdp2	A	G	8: 104,594,281	E254G	probably benign	Het
Pip5kl1	T	C	2: 32,580,006	V241A	probably benign	Het
Prkdc	T	A	16: 15,651,536	D168E	probably damaging	Het
Psg27	A	T	7: 18,562,090	H143Q	probably benign	Het
Serpina16	T	A	12: 103,672,537	I264F	probably benign	Het
Slc25a41	G	A	17: 57,041,582	H4Y	probably benign	Het
Smc3	T	G	19: 53,628,711	H518Q	probably benign	Het
Snrpb	G	T	2: 130,173,122	T158K	probably damaging	Het
Sobp	A	G	10: 43,022,396	F398L	probably damaging	Het
Spidr	T	A	16: 16,140,727	Q57L	probably benign	Het
Srd5a3	T	G	5: 76,149,801	V26G	possibly damaging	Het
Stx17	A	G	4: 48,166,972	T131A	probably benign	Het
Susd1	A	G	4: 59,332,985	L553P	possibly damaging	Het
Tbc1d30	C	A	10: 121,351,104	G59C	probably benign	Het
Tekt1	T	C	11: 72,352,024	D219G	possibly damaging	Het
Trav9d-1	A	T	14: 52,792,706	D89V	possibly damaging	Het
Trim34b	T	C	7: 104,331,338	I211T	probably benign	Het
Vmn1r25	A	T	6: 57,978,546	L253M	possibly damaging	Het
Vmn1r56	C	T	7: 5,195,905	V238M	probably damaging	Het
Wipf3	A	G	6: 54,489,085	I443V	probably benign	Het

Other mutations in Olfr518

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02713:Olfr518	APN	7	108880853	missense	probably damaging	0.99
IGL02995:Olfr518	APN	7	108880991	missense	probably damaging	1.00
IGL03162:Olfr518	APN	7	108881604	start codon destroyed	probably null
IGL03389:Olfr518	APN	7	108880775	missense	probably damaging	0.99
R0731:Olfr518	UTSW	7	108881533	missense	probably damaging	1.00
R1669:Olfr518	UTSW	7	108880713	missense	probably benign	0.00
R2235:Olfr518	UTSW	7	108880965	missense	probably benign	0.09
R4740:Olfr518	UTSW	7	108881482	missense	probably benign	0.05
R4902:Olfr518	UTSW	7	108881417	missense	probably benign	0.00
R5343:Olfr518	UTSW	7	108880998	missense	possibly damaging	0.87
R6744:Olfr518	UTSW	7	108880830	missense	probably damaging	0.99
R7157:Olfr518	UTSW	7	108881268	missense	probably benign	0.03
R7326:Olfr518	UTSW	7	108880816	missense	probably damaging	1.00
R7713:Olfr518	UTSW	7	108880682	missense	probably damaging	1.00
R7819:Olfr518	UTSW	7	108881403	missense	probably damaging	0.99
R7939:Olfr518	UTSW	7	108881274	missense	probably benign	0.05
R8057:Olfr518	UTSW	7	108881364	missense	probably damaging	1.00
R8096:Olfr518	UTSW	7	108881041	nonsense	probably null
R8766:Olfr518	UTSW	7	108881246	missense	probably benign	0.05
R9283:Olfr518	UTSW	7	108881082	missense	probably benign	0.03
R9570:Olfr518	UTSW	7	108881297	missense	possibly damaging	0.95
R9763:Olfr518	UTSW	7	108881667	start gained	probably benign
X0066:Olfr518	UTSW	7	108881472	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCAACAAATCAACCTCTGTGTAAAG -3'
(R):5'- TGAGACTCCTCCTGTGCTGG -3'

Sequencing Primer
(F):5'- AACCTCTGTGTAAAGCCACTTTTC -3'
(R):5'- TGAAGTCTACGCCTTCACAGG -3'

Posted On

2021-01-18