Mutagenetix > Incidental Mutation

Incidental Mutation 'R2008:Olfr46'

219239

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

040017-MU

Accession Numbers

Essential gene?

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

Stock #

R2008 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140601269-140617678 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140610585 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 140 (Y140H)

Ref Sequence

ENSEMBL: ENSMUSP00000072445 (fasta)

Gene Model

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

AlphaFold

Q8VGJ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000072655
AA Change: Y140H

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

SMART Domains

Protein: ENSMUSP00000072445
Gene: ENSMUSG00000093942
AA Change: Y140H

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: Y132H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214180
AA Change: Y132H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	C	T	5: 98,737,702	T156I	possibly damaging	Het
1700061G19Rik	A	G	17: 56,886,478	N608S	probably benign	Het
2510039O18Rik	T	A	4: 147,941,577	C185S	probably benign	Het
Actl6b	T	A	5: 137,569,330	S409T	probably damaging	Het
Adgrf2	T	C	17: 42,710,122	T604A	probably damaging	Het
Adprhl2	T	A	4: 126,317,344	D260V	probably benign	Het
Akap9	A	G	5: 3,960,131	E296G	possibly damaging	Het
Alg5	A	G	3: 54,746,473	Y210C	possibly damaging	Het
Aoc1	T	C	6: 48,905,897	W236R	probably damaging	Het
Atp11b	A	G	3: 35,855,122	D1155G	probably damaging	Het
Atp2c1	T	A	9: 105,432,726	T551S	probably benign	Het
Atp7b	A	T	8: 22,027,980	C281S	probably damaging	Het
Bmp1	C	T	14: 70,492,466	C466Y	probably damaging	Het
Cabin1	T	C	10: 75,734,976		probably null	Het
Capn9	T	G	8: 124,591,685	C97G	probably damaging	Het
Cbfa2t3	A	G	8: 122,643,293	V147A	probably damaging	Het
Ccdc83	T	A	7: 90,244,141	Y136F	probably damaging	Het
Cdh6	C	A	15: 13,051,476	R357L	possibly damaging	Het
Celf1	A	T	2: 91,010,408	N367I	probably damaging	Het
Cep350	T	C	1: 155,914,721	I1363V	probably benign	Het
Colec12	T	A	18: 9,874,813	D696E	probably benign	Het
Ctbp1	C	T	5: 33,250,986	E138K	probably damaging	Het
Cyp4a10	T	C	4: 115,525,392	I293T	probably damaging	Het
D430042O09Rik	C	G	7: 125,860,566	H1189D	probably damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dctn1	C	T	6: 83,189,956	T263I	probably damaging	Het
Ddx49	A	T	8: 70,295,444	V317E	probably damaging	Het
Edil3	G	A	13: 88,944,953		probably null	Het
Egflam	A	T	15: 7,237,804	V700E	possibly damaging	Het
Fam168b	A	G	1: 34,819,865		probably null	Het
Gigyf2	T	G	1: 87,374,113		probably null	Het
Gm5346	A	T	8: 43,627,037	V50D	probably benign	Het
Heatr4	A	G	12: 83,979,740	S248P	probably benign	Het
Hist1h1c	C	G	13: 23,739,409	S187R	probably benign	Het
Hoxd1	A	T	2: 74,764,180	I260F	possibly damaging	Het
Hsd3b3	A	T	3: 98,742,092	L305Q	probably damaging	Het
Itch	T	A	2: 155,210,459	C660S	possibly damaging	Het
Ivd	A	T	2: 118,871,500	I138F	probably benign	Het
Lcn4	G	T	2: 26,671,216	Q18K	possibly damaging	Het
Mapkbp1	T	C	2: 120,012,665	Y192H	probably damaging	Het
Mn1	T	C	5: 111,418,857	L231P	probably damaging	Het
Morc1	A	G	16: 48,565,646	D544G	probably benign	Het
Mthfd1	C	A	12: 76,297,519	T331K	probably damaging	Het
Myo18b	T	A	5: 112,873,557	Y546F	probably benign	Het
Nod1	T	C	6: 54,939,325	Y129C	probably damaging	Het
Nprl3	A	G	11: 32,232,973	V563A	probably damaging	Het
Olfr1253	A	T	2: 89,752,073	C252S	possibly damaging	Het
Olfr497	T	C	7: 108,423,182	F204L	probably benign	Het
Olfr904	T	C	9: 38,464,241	S67P	probably damaging	Het
Olfr998	A	G	2: 85,591,422	N294S	probably damaging	Het
Orc3	T	A	4: 34,611,049		probably null	Het
Otog	T	C	7: 46,264,074	V777A	probably benign	Het
Pbxip1	G	T	3: 89,448,713	V711L	probably benign	Het
Pcdhb16	A	G	18: 37,478,263	D92G	probably damaging	Het
Phkb	T	A	8: 86,056,467	M964K	probably damaging	Het
Pitpnm2	T	A	5: 124,152,621	M1L	probably damaging	Het
Pkhd1	A	G	1: 20,199,459	V3287A	probably damaging	Het
Polq	T	A	16: 37,062,482	H1669Q	probably damaging	Het
Ppp4r4	T	C	12: 103,585,757	S195P	probably damaging	Het
Prdm2	T	C	4: 143,134,947	Y591C	probably damaging	Het
Rgsl1	T	A	1: 153,825,905	T268S	possibly damaging	Het
Scd2	A	T	19: 44,303,171	T350S	probably benign	Het
Scn7a	T	A	2: 66,687,747	Q1040L	possibly damaging	Het
Sdhb	T	A	4: 140,979,029	L259Q	probably damaging	Het
Senp6	A	G	9: 80,126,398	H701R	probably damaging	Het
Slc41a2	C	T	10: 83,304,303		probably null	Het
Slx4	T	C	16: 3,979,921	D1533G	probably damaging	Het
Spef2	T	C	15: 9,713,185	K367R	possibly damaging	Het
Sstr3	G	A	15: 78,540,511	T12M	probably benign	Het
Synj2	G	T	17: 5,996,946	E20D	probably damaging	Het
Tchh	G	T	3: 93,445,974	R907L	unknown	Het
Thsd1	A	G	8: 22,259,231	E645G	probably benign	Het
Tmem176b	A	T	6: 48,835,449	M194K	probably damaging	Het
Tmprss11f	T	C	5: 86,591,406		probably null	Het
Trim44	G	A	2: 102,400,377		probably benign	Het
Triml1	T	A	8: 43,130,605	R320W	probably damaging	Het
Trmt6	A	T	2: 132,806,909	C401*	probably null	Het
Trpv5	T	C	6: 41,659,728		probably null	Het
V1rd19	T	A	7: 24,003,301	L64*	probably null	Het
Vmn1r216	A	T	13: 23,099,491	R115W	probably damaging	Het
Vmn2r58	T	C	7: 41,860,500	N551S	probably damaging	Het
Vmn2r77	T	C	7: 86,801,713	V269A	probably benign	Het
Vps13d	A	T	4: 145,155,243	V1254D	probably benign	Het
Xpr1	T	C	1: 155,281,029		probably null	Het
Zan	T	A	5: 137,452,450	T1622S	unknown	Het
Zfp112	T	C	7: 24,126,751	Y715H	probably damaging	Het
Zfp750	G	A	11: 121,513,125	P308L	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
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
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'- ACCATGGATATTATCTGCACCTCC -3'
(R):5'- TGCCACAAGAGTCATAACGC -3'

Sequencing Primer
(F):5'- TCCTCTGTACTGCCCAAGG -3'
(R):5'- TGTAGGACTACAGGAGAGCAG -3'

Posted On

2014-08-25