Mutagenetix > Incidental Mutations

Incidental Mutation 'R7216:Olfr46'

561469

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: 0.117) question?

Stock #

R7216 (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 T at 140610460 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 90 (N90I)

Ref Sequence

ENSEMBL: ENSMUSP00000147582 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000072655
AA Change: N98I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072445
Gene: ENSMUSG00000093942
AA Change: N98I

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

possibly damaging
Transcript: ENSMUST00000211771
AA Change: N90I

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214180
AA Change: N90I

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 53,140,457	N1551K	probably benign	Het
Amy2a1	T	C	3: 113,530,441	D150G	possibly damaging	Het
Atp2b1	T	A	10: 98,986,977	C165S	probably benign	Het
Atp2c1	A	T	9: 105,467,731	D102E	probably benign	Het
Capn8	C	A	1: 182,598,798	R233S	possibly damaging	Het
Cd48	T	C	1: 171,695,822	S78P	probably damaging	Het
Clasp1	T	A	1: 118,547,918	D944E	probably benign	Het
Clip2	A	G	5: 134,502,917	M678T	probably benign	Het
Clmp	T	C	9: 40,760,909	Y12H	possibly damaging	Het
Col22a1	A	T	15: 71,973,845	V356D	probably damaging	Het
Copg2	A	T	6: 30,885,600	D101E	probably damaging	Het
Cpsf6	G	A	10: 117,362,023	P229S	unknown	Het
Dgke	T	C	11: 89,050,337	D340G	probably benign	Het
Dlg1	TAAA	TAA	16: 31,796,918		probably null	Het
Dlg5	G	A	14: 24,136,638	Q1865*	probably null	Het
Dnajc2	C	T	5: 21,776,779	R123Q	probably damaging	Het
E430018J23Rik	A	G	7: 127,391,523	S431P	probably benign	Het
Egln2	T	C	7: 27,159,829	D365G	probably damaging	Het
Epha4	T	C	1: 77,444,984	D287G	probably damaging	Het
Fat4	A	G	3: 38,891,043	T1362A	probably damaging	Het
Flt4	A	G	11: 49,634,681	T685A	possibly damaging	Het
Fras1	T	C	5: 96,739,314	Y2652H	probably damaging	Het
Gas2	A	G	7: 51,897,257	E52G	possibly damaging	Het
Gm11639	A	T	11: 104,880,549	K2633N	possibly damaging	Het
Gm13103	A	G	4: 143,851,829	I220V	probably damaging	Het
Gm5093	A	T	17: 46,440,088	D4E	not run	Het
Gm6370	A	T	5: 146,493,913	T303S	probably benign	Het
Gpr161	A	G	1: 165,306,546	I126V	probably benign	Het
Gpr63	T	C	4: 25,008,038	L254P	probably damaging	Het
H2-M9	C	T	17: 36,640,702	V294I	probably benign	Het
Insr	T	A	8: 3,203,034	N375I	possibly damaging	Het
Ints1	T	C	5: 139,768,984	N600S	possibly damaging	Het
Ints10	A	G	8: 68,822,157	N628S	probably damaging	Het
Irf2	A	G	8: 46,793,556	T20A	probably benign	Het
Irs1	T	A	1: 82,289,755	T247S	probably damaging	Het
Islr	C	T	9: 58,156,967	S419N	unknown	Het
Kcna2	T	A	3: 107,104,793	I230N	probably damaging	Het
Kif3c	C	A	12: 3,366,126	A49E	probably benign	Het
Kifap3	A	T	1: 163,795,989	K108N	probably damaging	Het
Lama3	T	A	18: 12,430,000	F527I	probably damaging	Het
Layn	A	G	9: 51,077,052		probably benign	Het
Lims2	G	T	18: 31,957,262	W276L	probably damaging	Het
Lsp1	T	C	7: 142,488,442	L133S	probably damaging	Het
Map3k6	T	G	4: 133,246,900	V536G	probably damaging	Het
Med7	T	A	11: 46,440,854	L92H	probably damaging	Het
Mllt1	A	G	17: 56,927,042	V48A	probably damaging	Het
Mpp5	G	A	12: 78,797,232	R70H	probably damaging	Het
Neurl4	T	A	11: 69,910,262	V1153E	probably damaging	Het
Nkx2-1	A	C	12: 56,534,802	C87G	probably damaging	Het
Nsun7	T	C	5: 66,278,657	S291P	probably damaging	Het
Olfr148	A	T	9: 39,614,494	Q309L	probably benign	Het
Olfr1508	G	A	14: 52,463,488	P174S	probably damaging	Het
Olfr406	A	T	11: 74,269,724	I112F	probably damaging	Het
Olfr829	T	A	9: 18,857,336	M237K	probably benign	Het
Pbrm1	A	G	14: 31,045,422	Y331C	possibly damaging	Het
Pirb	T	A	7: 3,716,274	T539S	probably benign	Het
Plch2	T	G	4: 154,984,228	T1314P	probably benign	Het
Polk	T	C	13: 96,508,220	S133G	probably benign	Het
Prdm5	A	T	6: 65,927,983	K533*	probably null	Het
Prmt1	T	A	7: 44,983,573	Q35H	probably benign	Het
Pum3	A	T	19: 27,424,225	W142R	probably damaging	Het
Rest	G	A	5: 77,282,608	R958H	probably benign	Het
Rictor	C	T	15: 6,769,301	T343M	probably damaging	Het
Ripor2	G	A	13: 24,671,903	G109R	probably damaging	Het
Sec62	C	T	3: 30,818,829	Q354*	probably null	Het
Snx14	T	C	9: 88,381,791	Y847C	probably damaging	Het
Soga1	T	C	2: 157,018,370	R1650G	possibly damaging	Het
Sox7	A	T	14: 63,947,989	D158V	probably benign	Het
Spag8	A	G	4: 43,652,034	V350A	possibly damaging	Het
Syngr1	A	T	15: 80,111,733	I158F	probably damaging	Het
Tacstd2	C	A	6: 67,534,995	V238L	probably benign	Het
Tex15	T	C	8: 33,572,986	S815P	possibly damaging	Het
Tmem117	A	T	15: 94,714,912	T110S	possibly damaging	Het
Tnrc6a	T	C	7: 123,171,495	I836T	probably benign	Het
Trim30b	C	A	7: 104,357,362	V96L	probably benign	Het
Tssk3	TGCTATCATGGGG	TG	4: 129,489,313		probably null	Het
Tyk2	G	T	9: 21,120,526	H418N	probably benign	Het
Uap1	G	T	1: 170,158,903	T170K	probably damaging	Het
Vmn1r40	T	C	6: 89,714,624	V141A	not run	Het
Vmn1r54	T	A	6: 90,269,665	I187K	probably damaging	Het
Vmp1	C	T	11: 86,602,033	V317M	probably damaging	Het
Wnt8b	A	G	19: 44,512,072	K366R	probably benign	Het
Zfp207	C	T	11: 80,395,178	P415L	unknown	Het
Zfp263	A	G	16: 3,744,571	E66G	probably damaging	Het
Zfp985	T	A	4: 147,583,456	H260Q	probably damaging	Het
Zmiz1	GCC	GC	14: 25,576,200		probably null	Het
Zmiz1	A	C	14: 25,576,207	Q46P	probably damaging	Het
Zmiz1	A	G	14: 25,576,209	R47G	probably 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	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
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

Predicted Primers

PCR Primer
(F):5'- CTAAGACTGTTCCTGATGGGC -3'
(R):5'- GCATTTAGTGCGCAGATGGAC -3'

Sequencing Primer
(F):5'- GATGGGCTGTTTCCTGTCCC -3'
(R):5'- CATTTAGTGCGCAGATGGACCATAC -3'

Posted On

2019-06-26