Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02408:Olfr46'

292162

Institutional Source

Australian Phenomics Network (link to record)

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: 0.110) question?

Stock #

IGL02408

Quality Score

Status

Chromosome

Chromosomal Location

140601269-140617678 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140610931 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 255 (V255A)

Ref Sequence

ENSEMBL: ENSMUSP00000072445 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000072655
AA Change: V255A

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

SMART Domains

Protein: ENSMUSP00000072445
Gene: ENSMUSG00000093942
AA Change: V255A

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: V247A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214180
AA Change: V247A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,644,171	Y278C	probably damaging	Het
Abcd2	A	G	15: 91,178,241	L498P	possibly damaging	Het
Acot11	A	G	4: 106,758,381	F271S	probably damaging	Het
Acr	T	A	15: 89,570,014	Y185N	probably damaging	Het
Adcy10	C	T	1: 165,538,380	R489C	probably damaging	Het
Arsb	A	G	13: 93,794,162	T213A	probably benign	Het
Atg2a	T	A	19: 6,241,828	C11*	probably null	Het
B3galt6	A	T	4: 155,991,695	Y308N	probably damaging	Het
Cd226	A	G	18: 89,207,327	N116S	probably benign	Het
Crat	T	A	2: 30,407,134	D269V	probably damaging	Het
Crim1	T	A	17: 78,315,654	I427N	possibly damaging	Het
Dock3	T	C	9: 106,913,099		probably benign	Het
Dsg1c	T	A	18: 20,274,719	V374E	probably damaging	Het
Dtl	A	G	1: 191,541,240	S519P	probably benign	Het
Fastkd1	C	T	2: 69,702,601	R474H	probably benign	Het
Fbxo10	T	C	4: 45,058,361	T459A	possibly damaging	Het
Frmd4b	A	G	6: 97,295,809	L828P	probably damaging	Het
Gc	T	C	5: 89,445,396	S55G	probably benign	Het
Gm6455	T	G	5: 10,867,290		noncoding transcript	Het
Gnai2	T	C	9: 107,616,194	T280A	probably benign	Het
Hmgn2	A	G	4: 133,965,949		probably null	Het
Jmjd1c	G	T	10: 67,226,382	A1505S	probably benign	Het
Lrriq1	T	C	10: 103,146,281	K1393E	probably benign	Het
Mcam	A	G	9: 44,140,250	N469D	probably benign	Het
Mrpl47	A	G	3: 32,736,640		probably null	Het
Mslnl	C	T	17: 25,747,998	A659V	possibly damaging	Het
Nlrp1a	A	G	11: 71,122,630	V598A	probably benign	Het
Npff	A	T	15: 102,524,565	L15Q	probably null	Het
Obsl1	G	T	1: 75,505,246	Q327K	probably damaging	Het
Olfr48	T	A	2: 89,844,971	M1L	probably benign	Het
Olfr58	A	T	9: 19,783,415	Y94F	probably benign	Het
Olfr591	T	C	7: 103,173,451	Y62C	probably damaging	Het
Olfr914	G	A	9: 38,607,121	G219S	possibly damaging	Het
Pdzd2	T	A	15: 12,375,765	H1428L	probably benign	Het
Phldb1	T	C	9: 44,715,906	E414G	possibly damaging	Het
Reln	T	C	5: 21,901,619	D3251G	probably benign	Het
Secisbp2l	G	T	2: 125,740,869	S889*	probably null	Het
Setx	T	A	2: 29,133,930	C133S	probably damaging	Het
Slc22a29	A	C	19: 8,207,285	S214A	probably benign	Het
Slc30a5	A	C	13: 100,813,724	L285R	probably damaging	Het
Taar7a	T	G	10: 23,992,602	I294L	probably benign	Het
Tfap2b	T	A	1: 19,234,261	F414I	probably damaging	Het
Trpc4ap	A	T	2: 155,671,069	Y129N	possibly damaging	Het
Vmn2r94	T	C	17: 18,253,261	E501G	probably benign	Het
Xpot	T	C	10: 121,603,165	H709R	probably damaging	Het
Zfhx3	T	A	8: 108,955,372		probably benign	Het
Zscan22	T	G	7: 12,906,499	H223Q	probably benign	Het

Other mutations in Olfr46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Olfr46	APN	7	140610753	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

Posted On

2015-04-16