Mutagenetix > Incidental Mutations

Incidental Mutation 'R1184:Olfr1462'

102001

Institutional Source

Beutler Lab

Gene Symbol

Olfr1462

Ensembl Gene

ENSMUSG00000094721

Gene Name

olfactory receptor 1462

Synonyms

GA_x6K02T2RE5P-3517488-3518411, MOR202-13

MMRRC Submission

039256-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R1184 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13185734-13193775 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 13191375 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 236 (L236R)

Ref Sequence

ENSEMBL: ENSMUSP00000147174 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076832] [ENSMUST00000208533]

AlphaFold

Q8VFW3

Predicted Effect

probably damaging
Transcript: ENSMUST00000076832
AA Change: L236R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076107
Gene: ENSMUSG00000094721
AA Change: L236R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.3e-51	PFAM
Pfam:7tm_1	39	288	6e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000208533
AA Change: L236R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

100% (83/83)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,160,912	R7G	probably damaging	Het
2410089E03Rik	G	T	15: 8,216,487	V1448L	probably benign	Het
Ahdc1	T	A	4: 133,065,396	M1316K	probably benign	Het
Alkal1	A	G	1: 6,389,488	Y96C	probably damaging	Het
Arhgap17	T	C	7: 123,314,690	Y199C	probably damaging	Het
Bmp2	T	C	2: 133,561,468	V313A	probably damaging	Het
Cacna1b	C	T	2: 24,687,745		probably null	Het
Cars	T	C	7: 143,587,139	T141A	probably damaging	Het
Ccdc57	A	G	11: 120,873,811		probably benign	Het
Cenpe	T	C	3: 135,264,422		probably null	Het
Chadl	T	C	15: 81,693,057	S198G	probably benign	Het
Chd6	G	C	2: 161,030,802	P286R	probably damaging	Het
Clec4a4	G	T	6: 123,012,712	W104L	probably benign	Het
Coq4	G	A	2: 29,788,334		probably benign	Het
Crtc2	T	A	3: 90,262,633	Y445*	probably null	Het
Dapk1	A	T	13: 60,696,298	I44F	probably damaging	Het
Dcbld2	T	A	16: 58,449,841		probably null	Het
Dcun1d4	T	C	5: 73,511,112		probably benign	Het
Depdc7	A	T	2: 104,730,178		probably benign	Het
Dna2	A	G	10: 62,959,198	D416G	probably benign	Het
Dnah2	A	T	11: 69,499,190	I743N	probably damaging	Het
Dnah9	A	G	11: 66,084,612		probably null	Het
Dock3	A	G	9: 106,969,800	S877P	probably damaging	Het
Eif3l	T	A	15: 79,075,766		probably null	Het
Epha5	A	T	5: 84,071,275		probably null	Het
Ffar3	T	A	7: 30,855,104	N264Y	probably damaging	Het
Fyb	A	T	15: 6,638,900	I525F	probably damaging	Het
Fyco1	A	G	9: 123,819,153	F1239L	probably damaging	Het
Gcdh	T	C	8: 84,893,442		probably benign	Het
Gk5	T	C	9: 96,150,420		probably benign	Het
Gm21188	A	T	13: 120,035,131	N67K	probably benign	Het
Gm8979	A	G	7: 106,083,952	V32A	probably benign	Het
Grm1	A	G	10: 10,720,034	Y617H	probably benign	Het
Hhipl2	A	T	1: 183,425,134	I131L	probably damaging	Het
Larp4b	T	C	13: 9,166,309		probably benign	Het
Lrig2	T	A	3: 104,490,911	I301F	possibly damaging	Het
Man2a2	A	T	7: 80,362,965	I600N	possibly damaging	Het
Mylk2	G	C	2: 152,913,741		probably null	Het
Myo6	C	T	9: 80,286,382	Q870*	probably null	Het
Napg	T	G	18: 62,994,338	H204Q	probably benign	Het
Neb	G	A	2: 52,263,947	T2384M	probably damaging	Het
Nek10	A	G	14: 14,931,325		probably benign	Het
Olfr1216	A	G	2: 89,013,713	M117T	probably damaging	Het
Olfr1440	T	C	19: 12,394,857	V198A	probably benign	Het
Olfr748	A	C	14: 50,710,614	T95P	probably benign	Het
Pclo	A	G	5: 14,522,262	T554A	unknown	Het
Perm1	C	A	4: 156,217,314	T105K	probably damaging	Het
Pik3r1	T	C	13: 101,686,358		probably null	Het
Pld5	A	G	1: 176,044,896	I225T	probably damaging	Het
Plxnc1	T	C	10: 94,831,333		probably benign	Het
Ptpn12	A	C	5: 20,998,356	S475A	possibly damaging	Het
Ptprt	A	G	2: 161,927,772	V391A	possibly damaging	Het
Rac2	T	G	15: 78,565,945	D65A	possibly damaging	Het
Rgl3	A	G	9: 21,977,380		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Sebox	A	T	11: 78,503,849	T47S	probably damaging	Het
Sema4b	A	G	7: 80,224,640	T593A	probably benign	Het
Serpina3a	C	T	12: 104,116,528	Q187*	probably null	Het
Serpinb1a	T	C	13: 32,843,216	K248E	probably benign	Het
Serpinb9e	A	C	13: 33,259,774	E259A	probably benign	Het
Slc30a3	T	A	5: 31,090,166	H44L	probably damaging	Het
Smarca2	T	C	19: 26,770,933		probably benign	Het
Snrnp200	T	A	2: 127,236,817	C1801S	probably damaging	Het
Soat1	G	A	1: 156,442,374		probably null	Het
Spink6	T	C	18: 44,071,538		probably benign	Het
Spta1	G	A	1: 174,184,690	R354H	probably damaging	Het
Tbck	T	A	3: 132,837,972	H861Q	probably benign	Het
Tgfbrap1	G	A	1: 43,049,696	T849M	possibly damaging	Het
Tnrc6a	A	G	7: 123,170,340	N451S	possibly damaging	Het
Trim36	T	C	18: 46,196,251	T41A	probably damaging	Het
Trmt112	C	A	19: 6,910,353		probably benign	Het
Trpc4ap	A	G	2: 155,645,070		probably benign	Het
Ttll7	C	T	3: 146,939,991	P535S	probably damaging	Het
Ttn	A	T	2: 76,861,432		probably benign	Het
Txndc11	C	T	16: 11,128,500	R149Q	probably benign	Het
Ubr4	C	T	4: 139,437,198		probably benign	Het
Usp30	G	A	5: 114,103,827		probably null	Het
Vmn1r195	A	G	13: 22,279,011	Y217C	probably damaging	Het
Vps33b	T	A	7: 80,282,486	D135E	probably benign	Het
Vrk2	A	G	11: 26,483,331		probably benign	Het
Wdr81	G	T	11: 75,452,983	P486Q	probably damaging	Het
Zfp788	T	C	7: 41,648,326	Y129H	probably damaging	Het

Other mutations in Olfr1462

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Olfr1462	APN	19	13191234	missense	possibly damaging	0.60
IGL01999:Olfr1462	APN	19	13191560	missense	probably damaging	0.99
IGL02326:Olfr1462	APN	19	13191415	nonsense	probably null
IGL03381:Olfr1462	APN	19	13191405	missense	probably damaging	0.98
R1434:Olfr1462	UTSW	19	13191298	missense	probably benign	0.19
R2161:Olfr1462	UTSW	19	13191309	missense	probably damaging	0.99
R2399:Olfr1462	UTSW	19	13191345	missense	probably benign	0.02
R4583:Olfr1462	UTSW	19	13190698	missense	probably damaging	1.00
R5937:Olfr1462	UTSW	19	13191311	missense	probably damaging	1.00
R7164:Olfr1462	UTSW	19	13190906	missense	probably benign	0.00
R7270:Olfr1462	UTSW	19	13191404	missense	possibly damaging	0.90
R7645:Olfr1462	UTSW	19	13191573	missense	probably benign	0.01
R7649:Olfr1462	UTSW	19	13190772	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GTGTAAGCCCCTACATTATGCCACC -3'
(R):5'- CATGCTGTAGACCAGAGGGTTCAAC -3'

Sequencing Primer
(F):5'- CTGAATGCTTCCATCTATACAGTG -3'
(R):5'- CCAGAGGGTTCAACATAGGG -3'

Posted On

2014-01-15