Mutagenetix > Incidental Mutation

Incidental Mutation 'R4110:Olfr46'

317253

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

MMRRC Submission

040988-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R4110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140601269-140617678 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 140610264 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 33 (L33M)

Ref Sequence

ENSEMBL: ENSMUSP00000072445 (fasta)

Gene Model

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

AlphaFold

Q8VGJ4

Predicted Effect

probably benign
Transcript: ENSMUST00000072655
AA Change: L33M

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000072445
Gene: ENSMUSG00000093942
AA Change: L33M

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 benign
Transcript: ENSMUST00000211771
AA Change: L25M

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000214180
AA Change: L25M

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.3%
20x: 95.6%

Validation Efficiency

100% (61/61)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Acot10	A	T	15: 20,666,526	L43Q	probably damaging	Het
Alms1	G	A	6: 85,620,888	V1368I	probably benign	Het
Als2cl	T	C	9: 110,884,047	S2P	probably benign	Het
AW209491	T	C	13: 14,637,573	V337A	probably damaging	Het
Bace2	A	G	16: 97,436,656	T436A	probably benign	Het
BC023105	A	G	18: 60,442,284		noncoding transcript	Het
Blvra	T	C	2: 127,095,155	V176A	probably damaging	Het
Casp2	G	A	6: 42,267,894	A76T	probably damaging	Het
Ccdc88c	A	G	12: 100,945,073	L34P	probably damaging	Het
Cep250	G	A	2: 155,992,632	R2159K	probably damaging	Het
Col6a2	T	A	10: 76,606,169		probably null	Het
Cse1l	T	C	2: 166,942,050	Y488H	probably benign	Het
Dip2c	G	T	13: 9,637,101	G1254C	probably damaging	Het
Dnajb12	T	A	10: 59,894,314	S270R	possibly damaging	Het
Dnajc28	G	A	16: 91,616,867	T187M	probably damaging	Het
Dscaml1	G	A	9: 45,732,068	A1262T	probably benign	Het
Dtwd2	A	C	18: 49,698,306		probably benign	Het
Fadd	C	A	7: 144,580,751	K132N	possibly damaging	Het
Fndc3c1	T	C	X: 106,444,291	N462S	probably benign	Het
Fzd3	A	G	14: 65,235,167	V384A	probably benign	Het
Gm6370	T	C	5: 146,493,892	S296P	probably benign	Het
Gm853	A	T	4: 130,219,174	L143Q	probably damaging	Het
Gsdmc	T	A	15: 63,780,027	H245L	probably benign	Het
H13	T	C	2: 152,681,109	I114T	probably damaging	Het
Hhipl2	A	G	1: 183,424,012	R78G	probably benign	Het
Hrh3	C	A	2: 180,102,850	R99L	possibly damaging	Het
Man2c1	A	G	9: 57,136,771	N330S	probably damaging	Het
Muc19	T	A	15: 91,897,622		noncoding transcript	Het
Myh14	T	G	7: 44,628,550	M1092L	probably benign	Het
Neb	A	G	2: 52,148,766	I2899T	probably benign	Het
Neb	T	A	2: 52,244,125	Q3282L	probably damaging	Het
Nqo2	A	T	13: 33,979,637	Q93L	probably benign	Het
Olfr1239	C	A	2: 89,418,100	L104F	probably benign	Het
Olfr641	T	C	7: 104,040,402	V202A	probably damaging	Het
Pcsk1	A	G	13: 75,096,369	N122S	probably damaging	Het
Pdzrn4	A	G	15: 92,770,864	I966V	probably benign	Het
Phldb1	G	A	9: 44,715,831	T439I	possibly damaging	Het
Pign	A	G	1: 105,553,815		probably benign	Het
Pkn1	A	T	8: 83,691,199	D120E	probably benign	Het
Ptpru	A	G	4: 131,819,037	Y301H	probably damaging	Het
Raly	C	T	2: 154,857,458	Q61*	probably null	Het
Rpl24	T	C	16: 55,971,360	V148A	probably benign	Het
S100a16	A	G	3: 90,542,072	N18S	probably damaging	Het
Sec31b	G	T	19: 44,524,529	T507N	possibly damaging	Het
Sgca	T	C	11: 94,972,570	T27A	possibly damaging	Het
Slc22a12	C	A	19: 6,540,628	R203L	probably damaging	Het
Ssbp3	C	A	4: 107,047,196		probably benign	Het
Sucnr1	C	G	3: 60,086,794	R248G	probably damaging	Het
Tbr1	C	T	2: 61,811,732	P184L	probably benign	Het
Thsd7b	A	T	1: 130,116,619	D1112V	probably benign	Het
Tnc	A	G	4: 64,014,951	V692A	probably damaging	Het
Top2a	C	A	11: 99,022,960	K18N	probably damaging	Het
Topbp1	G	T	9: 103,309,959	R121L	probably damaging	Het
Unc79	T	C	12: 103,059,370	C339R	probably damaging	Het
Wdfy3	C	T	5: 101,900,058		probably null	Het
Zbtb3	G	C	19: 8,803,020		probably benign	Het
Zfp715	T	A	7: 43,297,880	K885N	possibly damaging	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	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
R9278:Olfr46	UTSW	7	140611023	missense	probably damaging	1.00
R9595:Olfr46	UTSW	7	140611026	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GATGAGAGCCTTCGCAGATG -3'
(R):5'- TTTCCTCAGACAGTAGACCAAC -3'

Sequencing Primer
(F):5'- GAGCCTTCGCAGATGTAAATAC -3'
(R):5'- GTAGACCAACCAGCGCCTTG -3'

Posted On

2015-05-15