Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Olfr518'

67555

Institutional Source

Beutler Lab

Gene Symbol

Olfr518

Ensembl Gene

ENSMUSG00000046431

Gene Name

olfactory receptor 518

Synonyms

MOR268-5, GA_x6K02T2PBJ9-11211854-11210853

MMRRC Submission

038912-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R0731 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108880188-108885006 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108881533 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 24 (N24K)

Ref Sequence

ENSEMBL: ENSMUSP00000151883 (fasta)

Gene Model

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

AlphaFold

Q8VEW1

Predicted Effect

probably damaging
Transcript: ENSMUST00000059617
AA Change: N24K

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

SMART Domains

Protein: ENSMUSP00000050503
Gene: ENSMUSG00000046431
AA Change: N24K

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

probably damaging
Transcript: ENSMUST00000217803
AA Change: N24K

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

Meta Mutation Damage Score

0.4037

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	T	C	10: 100,586,203	T66A	probably damaging	Het
4933406M09Rik	A	C	1: 134,389,975	M162L	probably benign	Het
Acsm3	A	T	7: 119,768,024	R27*	probably null	Het
Actg1	A	G	11: 120,346,949	F255S	probably damaging	Het
Ahdc1	T	A	4: 133,062,951	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,305,390	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,997,495		probably null	Het
Cacnb2	A	G	2: 14,985,706	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,579,143	K398N	probably damaging	Het
Cd79b	G	T	11: 106,312,433	S145R	probably damaging	Het
Cdh11	T	A	8: 102,668,019	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,901,597	D2892G	probably benign	Het
Chuk	A	G	19: 44,103,766		probably benign	Het
Clk3	T	C	9: 57,751,126		probably benign	Het
Dcaf8	A	T	1: 172,172,509	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,183,089	T87A	probably damaging	Het
Ddx50	T	C	10: 62,616,249	N732D	unknown	Het
Dnah5	A	T	15: 28,311,143	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,969,856	V858E	probably damaging	Het
Fer1l4	A	G	2: 156,024,070	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,113,854	I125V	probably benign	Het
Fuca2	C	T	10: 13,506,027	P228L	probably benign	Het
Galntl6	A	G	8: 58,535,984	F57L	probably benign	Het
Gigyf2	T	A	1: 87,407,727		probably benign	Het
Gm16505	A	T	13: 3,361,329		noncoding transcript	Het
Gm4781	T	C	10: 100,396,777		noncoding transcript	Het
Gm9956	T	A	10: 56,745,543	Y100*	probably null	Het
Gpr137c	T	A	14: 45,246,349	C178S	probably damaging	Het
Gpr83	A	G	9: 14,868,644	R331G	probably benign	Het
Hlcs	T	A	16: 94,131,852	H851L	probably damaging	Het
Kbtbd6	C	A	14: 79,451,884	Y6*	probably null	Het
Kif23	T	C	9: 61,925,032	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,105,733	T487I	probably damaging	Het
Klra5	A	C	6: 129,908,796	D133E	possibly damaging	Het
Klra6	T	C	6: 130,022,705	E100G	probably damaging	Het
Klre1	T	A	6: 129,585,568		probably benign	Het
Lancl1	C	T	1: 67,009,910		probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Man1b1	A	G	2: 25,338,155	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,874,264		probably benign	Het
Mast3	A	G	8: 70,781,321	S178P	probably damaging	Het
Mau2	A	G	8: 70,023,612		probably null	Het
Mkrn2	A	T	6: 115,614,651	N312Y	probably damaging	Het
Mrvi1	T	C	7: 110,876,900	S615G	probably benign	Het
Myh1	A	G	11: 67,202,533	E150G	probably damaging	Het
Myo7b	T	A	18: 31,961,825		probably null	Het
Nyap1	A	G	5: 137,735,298	V491A	probably damaging	Het
Olfr1284	A	G	2: 111,379,293	M98V	probably damaging	Het
Olfr484	T	C	7: 108,124,734	I176M	probably benign	Het
Olfr954	T	C	9: 39,461,532	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893	H385Q	probably damaging	Het
Pbld2	T	C	10: 63,056,811	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,029,305	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,351,541	H266Q	probably damaging	Het
Rbfox2	A	G	15: 77,099,279	S141P	probably benign	Het
Rdx	A	G	9: 52,068,218	T214A	probably benign	Het
Ripor2	A	T	13: 24,680,644	E219V	probably damaging	Het
Rufy2	G	A	10: 63,011,844		probably benign	Het
Slf2	T	A	19: 44,975,726		probably benign	Het
Snrnp200	G	T	2: 127,226,145		probably benign	Het
Snx7	T	A	3: 117,829,671		probably benign	Het
Stt3a	T	C	9: 36,735,512	I602V	probably damaging	Het
Tacr3	G	A	3: 134,855,000		probably null	Het
Tcerg1	C	T	18: 42,571,840	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,788,269	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,365,488	D860G	probably damaging	Het
Try4	T	C	6: 41,304,367	L81P	probably benign	Het
Ucp1	T	C	8: 83,297,847		probably benign	Het
Ugt2b38	G	A	5: 87,420,452	A328V	probably damaging	Het
Wfikkn1	T	A	17: 25,878,017	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,410,632	T875A	probably benign	Het
Zfp11	A	G	5: 129,657,264	S378P	probably damaging	Het
Zfp984	T	A	4: 147,756,232	N54I	probably damaging	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
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
R8472:Olfr518	UTSW	7	108880766	missense	possibly damaging	0.95
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'- CTGCACTGAAACTCATTTCTACCACAGA -3'
(R):5'- AGGGTCACAAGGAAGATACTTGGACA -3'

Sequencing Primer
(F):5'- ATTTCCCATCAGGGTCACCA -3'
(R):5'- taCCTATTGTGGAAACACCTAGAAAC -3'

Posted On

2013-09-03