Mutagenetix > Incidental Mutations

Incidental Mutation 'R7240:Olfr418'

563124

Institutional Source

Beutler Lab

Gene Symbol

Olfr418

Ensembl Gene

ENSMUSG00000049605

Gene Name

olfactory receptor 418

Synonyms

GA_x6K02T2P20D-20826777-20827719, MOR267-8, GA_x6K02T2R7CC-581296-580364, Olfr418-ps1, Olfr1403, MOR267-12P

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R7240 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173266001-173273994 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 173270994 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 273 (I273T)

Ref Sequence

ENSEMBL: ENSMUSP00000150427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059754] [ENSMUST00000111224] [ENSMUST00000213420]

Predicted Effect

probably benign
Transcript: ENSMUST00000059754
AA Change: I273T

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000052418
Gene: ENSMUSG00000049605
AA Change: I273T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.6e-55	PFAM
Pfam:7tm_1	41	289	5.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111224

SMART Domains

Protein: ENSMUSP00000106855
Gene: ENSMUSG00000079180

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PTX	20	219	1.93e-94	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000213420
AA Change: I273T

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (50/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,605,075	I59T	unknown	Het
Aspm	C	T	1: 139,478,651	Q1759*	probably null	Het
Atn1	A	T	6: 124,747,898	I124K	unknown	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,397,572		probably benign	Het
Ccdc88c	C	T	12: 100,944,939	V879M	probably benign	Het
Cd300c	A	G	11: 114,959,783	C65R	possibly damaging	Het
Cd69	A	T	6: 129,270,042	S112T	possibly damaging	Het
Cdh19	T	C	1: 110,893,407	T534A	probably benign	Het
Cdk5rap2	T	A	4: 70,291,908	D701V	probably damaging	Het
D130052B06Rik	A	G	11: 33,623,874	H157R	possibly damaging	Het
Dpf1	T	A	7: 29,311,627	F150L	probably benign	Het
Dsg1c	T	C	18: 20,283,109	L689P	probably damaging	Het
Dstyk	G	A	1: 132,454,123	M538I	probably benign	Het
E4f1	T	A	17: 24,444,325	I669F	probably damaging	Het
Gm7138	T	C	10: 77,776,755	T64A	unknown	Het
Gnai2	A	C	9: 107,615,773	D310E		Het
Iqca	A	G	1: 90,070,550	V567A	possibly damaging	Het
Iqgap1	A	T	7: 80,759,839	N249K	probably benign	Het
Lamc1	A	G	1: 153,234,650	V1093A	possibly damaging	Het
Mfap3	A	G	11: 57,529,756	K188E	probably damaging	Het
N4bp2	T	A	5: 65,794,545	V431D	probably damaging	Het
Notch4	A	G	17: 34,576,471	T792A	probably benign	Het
Ntn4	A	G	10: 93,745,741	H592R	probably damaging	Het
Ofcc1	A	G	13: 40,208,841	C202R	probably benign	Het
Olfr13	A	G	6: 43,174,501	K172E	probably benign	Het
Olfr476	T	C	7: 107,968,188	S264P	probably benign	Het
Olfr497	A	G	7: 108,422,933	M121V	probably damaging	Het
Olfr922	A	G	9: 38,815,713	D70G	probably benign	Het
Olfr938	A	T	9: 39,078,610	M45K	probably damaging	Het
Parpbp	G	A	10: 88,124,940	T228I	probably damaging	Het
Pcdhgb8	G	A	18: 37,763,703	V609M	probably damaging	Het
Pla2g4d	T	C	2: 120,270,349	N543S	probably damaging	Het
Puf60	A	G	15: 76,072,539		probably benign	Het
Rbm6	A	T	9: 107,852,896	D184E	probably damaging	Het
Rnase9	A	C	14: 51,038,979	S181A	probably benign	Het
Rnpc3	T	A	3: 113,616,831	R270S	probably damaging	Het
Rundc1	T	C	11: 101,431,548		probably null	Het
Ryr1	T	C	7: 29,052,015	S3715G	possibly damaging	Het
Scn3a	A	T	2: 65,469,042	D1373E	possibly damaging	Het
Serpina3k	T	G	12: 104,340,602	I31S	probably benign	Het
Sipa1l2	A	G	8: 125,469,860	F712L	probably damaging	Het
Slc22a29	A	G	19: 8,161,511	V529A	probably damaging	Het
Tdrd3	A	G	14: 87,458,803	N58S	probably benign	Het
Tmc2	C	T	2: 130,234,804	T350I	possibly damaging	Het
Tpst2	T	C	5: 112,307,678	C28R	probably benign	Het
Trbv21	A	T	6: 41,202,958	K69N	probably benign	Het
Trpm2	A	G	10: 77,935,876		probably null	Het
Ttn	A	G	2: 76,848,990	V10796A	unknown	Het
Ush2a	A	G	1: 188,911,661	T4407A	possibly damaging	Het
Vmn2r95	A	G	17: 18,451,963	H726R	probably benign	Het
Zfp777	A	G	6: 48,044,449	S80P	probably benign	Het

Other mutations in Olfr418

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Olfr418	APN	1	173270708	missense	probably damaging	1.00
IGL01418:Olfr418	APN	1	173270708	missense	probably damaging	1.00
IGL01930:Olfr418	APN	1	173270610	missense	probably benign
IGL01963:Olfr418	APN	1	173270352	missense	probably damaging	0.99
IGL02104:Olfr418	APN	1	173271036	missense	probably damaging	0.96
IGL02192:Olfr418	APN	1	173270850	missense	probably damaging	1.00
IGL02256:Olfr418	APN	1	173270627	missense	probably benign	0.04
IGL02340:Olfr418	APN	1	173270405	missense	probably benign	0.10
IGL02454:Olfr418	APN	1	173270940	missense	probably damaging	0.99
IGL02638:Olfr418	APN	1	173270331	missense	probably benign	0.07
FR4737:Olfr418	UTSW	1	173270630	frame shift	probably null
FR4976:Olfr418	UTSW	1	173270630	frame shift	probably null
R0552:Olfr418	UTSW	1	173270805	missense	probably benign	0.05
R0621:Olfr418	UTSW	1	173270675	missense	possibly damaging	0.48
R0735:Olfr418	UTSW	1	173271002	missense	probably benign	0.05
R1506:Olfr418	UTSW	1	173270769	missense	probably benign	0.04
R1670:Olfr418	UTSW	1	173270900	missense	probably damaging	1.00
R2111:Olfr418	UTSW	1	173270312	missense	probably benign
R2204:Olfr418	UTSW	1	173270136	splice site	probably null
R4475:Olfr418	UTSW	1	173270913	missense	probably damaging	0.99
R4909:Olfr418	UTSW	1	173270979	missense	probably damaging	0.97
R5457:Olfr418	UTSW	1	173270574	missense	probably benign	0.00
R6124:Olfr418	UTSW	1	173270279	missense	probably damaging	1.00
R6456:Olfr418	UTSW	1	173270538	missense	probably damaging	1.00
R7220:Olfr418	UTSW	1	173270244	missense	possibly damaging	0.56
R7672:Olfr418	UTSW	1	173270873	missense	probably benign	0.18
R8073:Olfr418	UTSW	1	173270985	missense	probably benign	0.42
R8116:Olfr418	UTSW	1	173270480	missense	possibly damaging	0.88
RF032:Olfr418	UTSW	1	173270709	frame shift	probably null
RF036:Olfr418	UTSW	1	173270709	frame shift	probably null
RF040:Olfr418	UTSW	1	173270709	frame shift	probably null
X0019:Olfr418	UTSW	1	173270557	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CATCAGCTCACTGGTTATTGTGGTAC -3'
(R):5'- GACTGTGATTAACTGAAACTGCAGG -3'

Sequencing Primer
(F):5'- CTCACTGGTTATTGTGGTACCCATG -3'
(R):5'- GTAAATAAAGGGAATCCACTGTACAC -3'

Posted On

2019-06-26