Mutagenetix > Incidental Mutations

Incidental Mutation 'R2066:Olfr1218'

226645

Institutional Source

Beutler Lab

Gene Symbol

Olfr1218

Ensembl Gene

ENSMUSG00000075105

Gene Name

olfactory receptor 1218

Synonyms

GA_x6K02T2Q125-50536041-50535106, MOR233-12

MMRRC Submission

040071-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R2066 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89052296-89061187 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89054899 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 176 (Y176H)

Ref Sequence

ENSEMBL: ENSMUSP00000149671 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099798] [ENSMUST00000213609] [ENSMUST00000215048] [ENSMUST00000215054]

Predicted Effect

probably damaging
Transcript: ENSMUST00000099798
AA Change: Y176H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097386
Gene: ENSMUSG00000075105
AA Change: Y176H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.4e-45	PFAM
Pfam:7tm_1	39	286	2.2e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213609
AA Change: Y176H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215048
AA Change: Y176H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215054
AA Change: Y176H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (79/79)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 67,920,702	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,689,322		probably benign	Het
Acadl	C	T	1: 66,841,746		probably null	Het
Acss1	G	A	2: 150,668,131	Q23*	probably null	Het
Afap1l1	A	T	18: 61,739,122		probably null	Het
Akt3	A	G	1: 177,102,985	S136P	possibly damaging	Het
Amy2a1	T	C	3: 113,530,568	I108V	probably benign	Het
Ano5	T	G	7: 51,585,386	L639R	probably damaging	Het
Arhgap26	T	C	18: 39,306,728	S71P	probably damaging	Het
B3gnt2	A	G	11: 22,836,735	L151P	probably damaging	Het
Bach1	A	T	16: 87,729,625	K658N	probably damaging	Het
Bdnf	C	A	2: 109,723,902	T207K	probably damaging	Het
Bod1l	G	T	5: 41,805,156	T2746K	probably damaging	Het
Brwd1	A	G	16: 96,046,465	S652P	probably benign	Het
Ccnt1	A	T	15: 98,551,942	H156Q	probably benign	Het
Clasp2	T	A	9: 113,906,157	I1021N	possibly damaging	Het
Cnep1r1	G	T	8: 88,118,817		probably benign	Het
Cntn6	C	T	6: 104,861,822	R946*	probably null	Het
Dnaaf3	T	C	7: 4,523,799	I426M	possibly damaging	Het
Dnajc13	A	T	9: 104,221,441	I471N	probably benign	Het
Ehd1	T	C	19: 6,298,078	L362P	probably benign	Het
Emx2	A	G	19: 59,461,698	N149S	probably benign	Het
Fbln7	G	T	2: 128,877,466	R61L	probably damaging	Het
Fgb	C	A	3: 83,049,689	D25Y	probably benign	Het
Filip1	A	G	9: 79,820,216	S374P	probably damaging	Het
Fry	T	A	5: 150,370,119		probably benign	Het
Gm12695	T	C	4: 96,769,726	T69A	probably benign	Het
Gm2959	A	G	14: 42,413,701		noncoding transcript	Het
Gm9912	T	C	3: 149,185,159	T113A	unknown	Het
Hdlbp	A	G	1: 93,421,880		probably benign	Het
Hunk	G	A	16: 90,481,245		probably null	Het
Ifnb1	T	A	4: 88,522,759	I6F	possibly damaging	Het
Il2rg	A	G	X: 101,267,810	L57P	possibly damaging	Het
Ints1	A	G	5: 139,767,496	V720A	probably benign	Het
Invs	T	A	4: 48,396,287	L320Q	probably damaging	Het
Jpt2	G	A	17: 24,948,739	Q79*	probably null	Het
Lingo2	A	G	4: 35,709,179	L267P	probably benign	Het
Lonp2	A	G	8: 86,665,775	T490A	probably damaging	Het
Meiob	G	T	17: 24,818,316	R56L	probably damaging	Het
Mindy3	A	T	2: 12,419,249	S2T	probably damaging	Het
Mrm3	A	T	11: 76,250,321	D385V	probably damaging	Het
Mrto4	T	C	4: 139,349,023	K86E	probably benign	Het
Naf1	A	G	8: 66,887,780	D414G	probably damaging	Het
Nav1	C	T	1: 135,449,004	R1694Q	probably damaging	Het
Nbea	A	G	3: 55,968,146	V1701A	probably damaging	Het
Nipal4	T	G	11: 46,156,795	D104A	probably damaging	Het
Npas4	A	G	19: 4,987,414	V284A	probably damaging	Het
Nup133	C	A	8: 123,914,575	D869Y	probably damaging	Het
Obscn	G	A	11: 59,135,732	A215V	possibly damaging	Het
Olfr870	G	T	9: 20,171,554	Q6K	probably benign	Het
Olfr938	T	C	9: 39,078,214	Y177C	probably damaging	Het
Pgs1	G	A	11: 118,014,570		probably benign	Het
Phc2	T	C	4: 128,747,136	F672S	probably damaging	Het
Phldb2	A	T	16: 45,770,758	L970Q	probably damaging	Het
Plxnb3	T	A	X: 73,771,751	Y1845*	probably null	Het
Ppip5k1	A	G	2: 121,342,871		probably benign	Het
Prune2	A	G	19: 17,120,678	D1182G	possibly damaging	Het
Psg25	G	A	7: 18,529,562	T112I	probably damaging	Het
Sec61g	T	C	11: 16,508,124	T24A	probably benign	Het
Skint1	T	A	4: 112,025,533	V258D	probably benign	Het
Sorbs1	T	C	19: 40,365,028		probably null	Het
Sox2	C	A	3: 34,651,307	Q298K	possibly damaging	Het
Spatc1	T	A	15: 76,283,537		probably null	Het
Szt2	T	C	4: 118,373,980	M2529V	unknown	Het
Thrap3	T	C	4: 126,175,396	Y654C	possibly damaging	Het
Tpp2	T	G	1: 43,978,438	I734S	possibly damaging	Het
Troap	T	C	15: 99,082,463	L508P	probably benign	Het
Ttc28	C	A	5: 111,225,933	F1078L	probably benign	Het
Ttn	T	C	2: 76,714,373	N32795S	probably damaging	Het
Ubap2	C	T	4: 41,199,872	A752T	probably benign	Het
Ugt2b36	T	C	5: 87,092,241	E95G	probably benign	Het
Vmn1r55	A	G	7: 5,147,049	V125A	possibly damaging	Het
Vstm2a	A	T	11: 16,261,483	I98F	probably benign	Het
Zdhhc13	T	A	7: 48,816,427	V284D	probably benign	Het
Zfp668	C	A	7: 127,867,031	R327L	probably damaging	Het
Zgrf1	T	C	3: 127,613,350	C1589R	probably damaging	Het

Other mutations in Olfr1218

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01652:Olfr1218	APN	2	89054569	missense	probably damaging	1.00
IGL03089:Olfr1218	APN	2	89055013	missense	probably benign	0.34
IGL03387:Olfr1218	APN	2	89055113	missense	probably damaging	1.00
R0350:Olfr1218	UTSW	2	89055356	missense	probably benign	0.10
R0699:Olfr1218	UTSW	2	89055292	missense	possibly damaging	0.67
R1609:Olfr1218	UTSW	2	89055344	missense	probably benign
R1856:Olfr1218	UTSW	2	89054859	missense	possibly damaging	0.95
R1972:Olfr1218	UTSW	2	89054547	missense	probably benign	0.05
R2921:Olfr1218	UTSW	2	89054499	missense	probably benign	0.04
R2923:Olfr1218	UTSW	2	89054499	missense	probably benign	0.04
R4037:Olfr1218	UTSW	2	89054688	missense	probably damaging	0.99
R4585:Olfr1218	UTSW	2	89055154	missense	possibly damaging	0.77
R4586:Olfr1218	UTSW	2	89055154	missense	possibly damaging	0.77
R5041:Olfr1218	UTSW	2	89054921	nonsense	probably null
R5124:Olfr1218	UTSW	2	89055087	missense	probably damaging	0.96
R5138:Olfr1218	UTSW	2	89054947	missense	probably benign	0.00
R5415:Olfr1218	UTSW	2	89054896	missense	probably benign	0.00
R5501:Olfr1218	UTSW	2	89054886	nonsense	probably null
R5941:Olfr1218	UTSW	2	89054619	missense	probably benign
R5991:Olfr1218	UTSW	2	89054782	missense	probably benign	0.01
R6396:Olfr1218	UTSW	2	89055297	missense	probably benign	0.36
R7047:Olfr1218	UTSW	2	89055146	missense	probably damaging	0.98
R8038:Olfr1218	UTSW	2	89054868	missense	probably damaging	1.00
R8387:Olfr1218	UTSW	2	89055302	missense	probably benign
R8403:Olfr1218	UTSW	2	89054604	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AACTACAACAGTAACGTGGGC -3'
(R):5'- TAGCAGCCATGGCCTATGAC -3'

Sequencing Primer
(F):5'- GAAAGAGCTTTCCTTCGTCCTTCAG -3'
(R):5'- CCGCTACGTGGCTATTTGCAAG -3'

Posted On

2014-09-17