Mutagenetix > Incidental Mutations

Incidental Mutation 'R9278:Olfr46'

703436

Institutional Source

Beutler Lab

Gene Symbol

Olfr46

Ensembl Gene

ENSMUSG00000093942

Gene Name

olfactory receptor 46

Synonyms

ID12, IF5, MOR253-8, GA_x6K02T2PBJ9-42759973-42760905, IB7

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R9278 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140601269-140617678 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140611023 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 278 (Y278H)

Ref Sequence

ENSEMBL: ENSMUSP00000147582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072655] [ENSMUST00000211771] [ENSMUST00000214180]

AlphaFold

Q8VGJ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000072655
AA Change: Y286H

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

SMART Domains

Protein: ENSMUSP00000072445
Gene: ENSMUSG00000093942
AA Change: Y286H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	39	315	1.1e-50	PFAM
Pfam:7TM_GPCR_Srsx	43	209	5.9e-8	PFAM
Pfam:7tm_1	49	298	3.4e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000211771
AA Change: Y278H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000214180
AA Change: Y278H

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

Coding Region Coverage

1x: 93.4%
3x: 93.4%
10x: 93.2%
20x: 92.9%

Validation Efficiency

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
Afdn	T	A	17: 13,804,008	C59S	probably damaging	Het
Aicda	C	T	6: 122,561,895	A161V	possibly damaging	Het
Ankrd12	C	T	17: 66,037,604	E91K	possibly damaging	Het
Arpc2	C	A	1: 74,236,882	F19L	probably benign	Het
Aspa	T	C	11: 73,324,454	K12E	possibly damaging	Het
Chd8	G	A	14: 52,235,170	P392L	probably benign	Het
Cldn10	C	T	14: 118,874,235	R206W	probably damaging	Het
Clec4b2	T	A	6: 123,204,265	M203K	probably damaging	Het
Clec4d	T	C	6: 123,274,690	M177T	probably benign	Het
Clec4d	G	T	6: 123,274,692	E178*	probably null	Het
Cmpk2	A	T	12: 26,469,569	Y73F	probably benign	Het
Col1a1	T	A	11: 94,947,277	V845D	unknown	Het
Cyp2c67	C	T	19: 39,609,255	R433Q	probably damaging	Het
Dda1	A	T	8: 71,474,486		probably null	Het
Ddx60	A	T	8: 61,977,978	Y849F	possibly damaging	Het
Dnm2	C	T	9: 21,505,681	R837W	possibly damaging	Het
Dtwd1	C	T	2: 126,164,808	T250I	probably damaging	Het
Efcab6	A	G	15: 83,892,893	V1114A	probably damaging	Het
Fat4	A	G	3: 38,891,022	T1355A	probably benign	Het
Fbxo40	T	G	16: 36,969,578	D390A	possibly damaging	Het
Gm7534	A	G	4: 134,195,459	L521P	probably damaging	Het
Gnaz	T	A	10: 74,991,605	L63Q	probably benign	Het
H6pd	T	A	4: 149,995,850	K179N	probably damaging	Het
Hps5	A	G	7: 46,790,973	F18L	probably benign	Het
Hyal5	A	G	6: 24,876,695	E189G	probably benign	Het
Ifnar1	T	A	16: 91,505,125	I496N	probably damaging	Het
Igf2r	C	A	17: 12,695,353	C1743F	probably damaging	Het
Igfn1	C	A	1: 135,973,447	R431L	probably damaging	Het
Itch	A	G	2: 155,203,297	Q507R	probably benign	Het
Kbtbd2	C	A	6: 56,780,346	R135L	probably damaging	Het
Kcnn2	T	C	18: 45,592,379	I314T	probably damaging	Het
Lix1	A	G	17: 17,402,949	D2G	probably damaging	Het
Lrp1b	T	C	2: 40,597,064	Y4557C		Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Med19	G	T	2: 84,678,631	G63C	probably damaging	Het
Mfsd4b1	C	T	10: 40,007,334	R40H	probably damaging	Het
Neb	C	T	2: 52,256,178	R2929H	probably damaging	Het
Nlrc5	A	G	8: 94,511,280	D1434G	probably benign	Het
Nlrp14	A	T	7: 107,197,842	N972I	probably damaging	Het
Olfr1247	A	C	2: 89,609,604	F166C	probably damaging	Het
Olfr128	A	T	17: 37,924,384	M273L	probably benign	Het
Olfr132	A	T	17: 38,130,802	L130Q	probably damaging	Het
Olfr947-ps1	A	G	9: 39,289,485	V135A	probably benign	Het
Otop1	T	C	5: 38,302,815	V575A	probably damaging	Het
Pcdhb4	A	G	18: 37,308,872	S412G	possibly damaging	Het
Pcsk4	T	C	10: 80,325,390	D230G	probably damaging	Het
Phldb2	C	A	16: 45,825,945	S46I	probably damaging	Het
Pik3ca	A	T	3: 32,454,438	N785I	probably damaging	Het
Polr2b	A	G	5: 77,323,638	R274G	probably damaging	Het
Prkdc	G	A	16: 15,816,659		probably null	Het
Prune2	C	T	19: 17,123,780	T2216I	probably benign	Het
Psma3	A	T	12: 70,994,382	D252V	probably benign	Het
Rnf213	T	C	11: 119,435,942	V1586A		Het
Ryr2	T	C	13: 11,883,090	T140A	probably benign	Het
Slc25a48	A	G	13: 56,463,739	I220V	probably benign	Het
Slc2a1	A	T	4: 119,133,410	E246D	probably benign	Het
Slc45a4	A	G	15: 73,586,357	Y448H	probably benign	Het
Sorl1	C	T	9: 42,046,561	V596I	probably benign	Het
Spag6	A	C	2: 18,699,174	E11A	probably benign	Het
Spef2	A	G	15: 9,727,409		probably null	Het
Spon1	T	C	7: 114,028,953	S315P	probably damaging	Het
Stard3	G	A	11: 98,372,105		probably benign	Het
Sv2c	A	G	13: 95,976,081	M636T	probably damaging	Het
Syt17	T	A	7: 118,434,257	D172V	probably damaging	Het
Tcf4	A	G	18: 69,633,581	Y206C	probably damaging	Het
Tead2	G	T	7: 45,231,352	S318I	probably benign	Het
Tom1	A	T	8: 75,057,255	D289V	probably damaging	Het
Tsen15	T	C	1: 152,383,347	I87V	probably damaging	Het
Ttc30a2	T	C	2: 75,977,031	D379G	probably damaging	Het
Usp15	A	G	10: 123,171,207	F123S	probably damaging	Het
Vmn1r220	A	T	13: 23,184,088	I146N	possibly damaging	Het
Vmn2r108	A	T	17: 20,472,299	N98K	probably benign	Het
Vmn2r71	T	A	7: 85,620,580	M433K	probably benign	Het
Vmn2r97	A	T	17: 18,914,500	H60L	probably benign	Het
Wbp4	A	G	14: 79,462,046	V336A	probably benign	Het
Zfp663	T	C	2: 165,360,090		probably null	Het

Other mutations in Olfr46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Olfr46	APN	7	140610753	missense	probably damaging	1.00
IGL02408:Olfr46	APN	7	140610931	missense	probably damaging	1.00
IGL02496:Olfr46	APN	7	140610168	start codon destroyed	probably benign
IGL03003:Olfr46	APN	7	140610370	missense	probably damaging	1.00
R0538:Olfr46	UTSW	7	140610384	missense	probably damaging	1.00
R1350:Olfr46	UTSW	7	140610709	missense	probably damaging	0.96
R1466:Olfr46	UTSW	7	140610969	missense	probably benign	0.01
R1466:Olfr46	UTSW	7	140610969	missense	probably benign	0.01
R2008:Olfr46	UTSW	7	140610585	missense	probably damaging	1.00
R4110:Olfr46	UTSW	7	140610264	missense	probably benign	0.20
R4110:Olfr46	UTSW	7	140610265	missense	possibly damaging	0.89
R4255:Olfr46	UTSW	7	140610587	nonsense	probably null
R4622:Olfr46	UTSW	7	140610698	nonsense	probably null
R4809:Olfr46	UTSW	7	140611074	missense	probably damaging	0.98
R4826:Olfr46	UTSW	7	140610319	missense	probably benign	0.02
R4989:Olfr46	UTSW	7	140610391	missense	possibly damaging	0.95
R5177:Olfr46	UTSW	7	140610189	missense	probably benign	0.00
R5261:Olfr46	UTSW	7	140610663	missense	probably benign	0.00
R5770:Olfr46	UTSW	7	140610943	missense	probably damaging	1.00
R5863:Olfr46	UTSW	7	140610631	missense	probably damaging	0.97
R6082:Olfr46	UTSW	7	140610681	missense	probably benign	0.00
R6705:Olfr46	UTSW	7	140610784	missense	probably damaging	0.99
R7216:Olfr46	UTSW	7	140610460	missense	possibly damaging	0.87
R7443:Olfr46	UTSW	7	140611048	missense	probably damaging	1.00
R7485:Olfr46	UTSW	7	140610178	missense	probably benign	0.02
R7806:Olfr46	UTSW	7	140610772	missense	probably benign	0.00
R8373:Olfr46	UTSW	7	140610295	missense	possibly damaging	0.88
R8884:Olfr46	UTSW	7	140610703	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATCATTGCCAGCATCCTG -3'
(R):5'- TCCAGTCTTCTCATCAGACAGAGG -3'

Sequencing Primer
(F):5'- GCGCATGCGTTCTGCTGAG -3'
(R):5'- CTCATCAGACAGAGGTTTTCTAAAGC -3'

Posted On

2022-03-25