Mutagenetix > Incidental Mutations

Incidental Mutation 'R7443:Olfr46'

577095

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R7443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140601269-140617678 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140611048 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 286 (N286S)

Ref Sequence

ENSEMBL: ENSMUSP00000147582 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000072655
AA Change: N294S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072445
Gene: ENSMUSG00000093942
AA Change: N294S

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: N286S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000214180
AA Change: N286S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700042G07Rik	G	A	4: 116,173,467	G23R	probably benign	Het
Abl2	T	C	1: 156,625,381	I162T	probably damaging	Het
Acaca	G	A	11: 84,315,793	S1493N	probably benign	Het
Arf2	T	A	11: 103,969,150	M18K	probably benign	Het
Bag5	A	G	12: 111,710,727	S221P	probably damaging	Het
Bcr	T	C	10: 75,143,136		probably null	Het
Btg2	T	A	1: 134,077,695	K51*	probably null	Het
C530008M17Rik	T	C	5: 76,856,638	V282A	unknown	Het
Chrne	A	G	11: 70,618,266	V130A	probably benign	Het
Cubn	T	A	2: 13,455,509	D714V	probably damaging	Het
Cyp4a29	A	T	4: 115,248,559	I153F	probably damaging	Het
D730001G18Rik	T	C	15: 74,775,400	E32G		Het
Dph7	C	A	2: 24,962,493	H5Q	probably benign	Het
Epha6	T	C	16: 59,775,625	N901S	possibly damaging	Het
Exosc9	C	A	3: 36,553,841	P66Q	probably damaging	Het
Foxn3	T	C	12: 99,388,779	D42G	possibly damaging	Het
Gbp11	A	G	5: 105,330,950		probably null	Het
Gm3264	A	T	14: 4,871,265	Y37F	probably damaging	Het
Gm4951	A	T	18: 60,246,050	N219I	probably benign	Het
H2-M10.2	T	A	17: 36,286,053	I44F	probably benign	Het
Hemgn	A	T	4: 46,396,145	F364I	probably damaging	Het
Hnf4a	A	G	2: 163,559,012	I184V	probably benign	Het
Ighe	G	T	12: 113,272,165	C180*	probably null	Het
Klk1b22	T	A	7: 44,116,110	I162K	probably benign	Het
Lmo3	C	T	6: 138,377,222	A104T	probably damaging	Het
Lsm14a	A	G	7: 34,353,838	V263A	probably benign	Het
Ltbp1	T	C	17: 75,364,437	Y1538H	probably damaging	Het
Map9	A	G	3: 82,371,356	E221G	possibly damaging	Het
Mccc2	G	A	13: 99,993,636	A71V	possibly damaging	Het
Mdc1	T	A	17: 35,850,820	V875E	probably damaging	Het
Mier2	A	T	10: 79,540,455	I212N	unknown	Het
Mitd1	T	C	1: 37,881,036	T164A	probably benign	Het
Myh1	T	C	11: 67,220,505	I1590T	probably benign	Het
Mylk2	T	G	2: 152,911,426		probably benign	Het
Ncapg	T	A	5: 45,672,310	V118E	probably benign	Het
Nynrin	G	A	14: 55,871,416	V1327I	probably benign	Het
Oas1c	C	A	5: 120,805,419	K218N	probably damaging	Het
Olfr1253	T	A	2: 89,751,941	M296L	probably benign	Het
Olfr154	T	A	2: 85,663,568	I289F	probably damaging	Het
Olfr183	T	A	16: 58,999,990	F102I	probably damaging	Het
Olfr382	A	T	11: 73,516,848	V117D	possibly damaging	Het
Olfr739	A	G	14: 50,425,050	D177G	probably damaging	Het
Otoa	A	T	7: 121,132,410	M618L	probably benign	Het
Plcg2	A	T	8: 117,504,289	T37S	probably benign	Het
Plekhg4	T	C	8: 105,380,867	L1010P	probably damaging	Het
Plxnb1	T	C	9: 109,114,607	F1921L	probably damaging	Het
Prss47	T	A	13: 65,049,489	K144N	probably damaging	Het
Rapgef2	T	C	3: 79,081,224	K953E	probably damaging	Het
Rasip1	T	A	7: 45,638,724	I909N	probably damaging	Het
Rps5	A	G	7: 12,922,995	T8A	probably benign	Het
Rsbn1l	T	C	5: 20,927,623	K213E	possibly damaging	Het
Serpinb5	T	C	1: 106,881,970	F369L	probably benign	Het
Slc4a5	T	C	6: 83,264,315	V306A	probably benign	Het
Sox13	C	A	1: 133,384,573	K484N	probably damaging	Het
Sox13	T	C	1: 133,384,631	Y465C	probably damaging	Het
Stx3	A	G	19: 11,791,844	I39T	possibly damaging	Het
Tbc1d5	T	C	17: 50,966,735	Y116C	probably damaging	Het
Tcp11l1	T	A	2: 104,684,135	Q429L	probably benign	Het
Tns3	G	A	11: 8,451,442	T952I	probably benign	Het
Trib3	T	C	2: 152,339,772	H176R	possibly damaging	Het
Trim12a	A	G	7: 104,300,842	Y297H	probably damaging	Het
Unc13a	A	G	8: 71,630,959	V1577A	probably damaging	Het
Vezf1	C	A	11: 88,074,663	P244T	probably damaging	Het
Vmn1r121	T	A	7: 21,098,020	D165V	probably damaging	Het
Vmn2r117	T	A	17: 23,460,133	I706F	probably benign	Het
Vmn2r117	C	T	17: 23,460,345	C635Y	probably damaging	Het
Vmn2r13	T	A	5: 109,192,043	H22L	probably benign	Het
Vmn2r87	A	T	10: 130,472,719	M550K	probably damaging	Het
Wdr6	A	G	9: 108,574,290	L798P	probably damaging	Het
Wtap	C	T	17: 12,980,934	G54D	probably benign	Het
Zfp827	A	G	8: 79,190,418	S541G		Het
Zkscan3	A	T	13: 21,388,438	Y341*	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
R7485:Olfr46	UTSW	7	140610178	missense	probably benign	0.02
R7806:Olfr46	UTSW	7	140610772	missense	probably benign	0.00

Predicted Primers

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

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

Posted On

2019-10-07