Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01547:Olfr301'

90353

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr301

Ensembl Gene

ENSMUSG00000061549

Gene Name

olfactory receptor 301

Synonyms

Olfr1531-ps1, MOR211-8P, GA_x6K02T2NHDJ-9693313-9692378, MOR221-1P, MOR221-1P, MOR221-4

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL01547

Quality Score

Status

Chromosome

Chromosomal Location

86403846-86414024 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86412871 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 170 (N170D)

Ref Sequence

ENSEMBL: ENSMUSP00000133780 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000174362]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073222
AA Change: N211D

PolyPhen 2 Score 0.720 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072955
Gene: ENSMUSG00000061549
AA Change: N211D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	70	348	4.7e-46	PFAM
Pfam:7tm_1	80	330	1.5e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174362
AA Change: N170D

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133780
Gene: ENSMUSG00000061549
AA Change: N170D

Domain	Start	End	E-Value	Type
low complexity region	21	38	N/A	INTRINSIC
Pfam:7tm_1	39	289	2e-28	PFAM
Pfam:7tm_4	137	282	1.1e-40	PFAM

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	G	A	4: 137,455,262	G243R	possibly damaging	Het
Afg3l1	T	C	8: 123,501,351	V625A	probably benign	Het
Arhgap39	T	C	15: 76,737,815		probably benign	Het
Bag1	A	G	4: 40,936,661	C332R	probably damaging	Het
Bcas2	T	C	3: 103,171,999	Y49H	probably damaging	Het
Cacna1b	C	A	2: 24,632,035		probably benign	Het
Cdyl	A	G	13: 35,790,162	D53G	possibly damaging	Het
Csmd3	T	C	15: 47,883,617	I1322V	probably benign	Het
Evc2	C	A	5: 37,393,087	A815E	probably benign	Het
Gm6309	C	T	5: 146,168,411	D231N	probably benign	Het
Mtfr2	C	T	10: 20,357,599	P305S	probably damaging	Het
Olfr639	A	T	7: 104,012,660	I14N	probably benign	Het
Olfr77	A	T	9: 19,920,901	I231F	probably benign	Het
Pcdhb1	A	G	18: 37,267,342	H782R	probably benign	Het
Polr2a	A	G	11: 69,744,942	S480P	probably damaging	Het
Scaf11	T	C	15: 96,418,429	T1085A	probably benign	Het
Sema6c	C	T	3: 95,172,398	R668C	probably damaging	Het
Tas2r123	C	T	6: 132,847,458	T106I	probably damaging	Het
Tgm5	A	G	2: 121,049,202		probably benign	Het
Vmn2r23	T	A	6: 123,704,424	I97N	possibly damaging	Het
Vmn2r6	T	A	3: 64,538,104	K644N	probably damaging	Het
Zfp608	A	G	18: 54,894,449		probably null	Het

Other mutations in Olfr301

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01015:Olfr301	APN	7	86412790	missense	probably damaging	1.00
IGL01459:Olfr301	APN	7	86412551	missense	probably damaging	1.00
IGL01538:Olfr301	APN	7	86412959	missense	possibly damaging	0.80
R0918:Olfr301	UTSW	7	86413195	missense	probably benign	0.01
R1559:Olfr301	UTSW	7	86412367	missense	probably benign	0.00
R1651:Olfr301	UTSW	7	86407870	utr 5 prime	probably benign
R2411:Olfr301	UTSW	7	86413082	missense	possibly damaging	0.51
R3732:Olfr301	UTSW	7	86412633	missense	probably damaging	0.98
R3832:Olfr301	UTSW	7	86413193	missense	probably damaging	1.00
R5175:Olfr301	UTSW	7	86413046	missense	probably benign	0.00
R5372:Olfr301	UTSW	7	86412968	missense	possibly damaging	0.66
R5413:Olfr301	UTSW	7	86412467	missense	probably benign
R5520:Olfr301	UTSW	7	86412856	missense	probably benign	0.02
R5579:Olfr301	UTSW	7	86412726	nonsense	probably null
R6037:Olfr301	UTSW	7	86413270	missense	probably benign	0.02
R6037:Olfr301	UTSW	7	86413270	missense	probably benign	0.02
R7251:Olfr301	UTSW	7	86413001	missense	probably benign
R7340:Olfr301	UTSW	7	86412749	missense	possibly damaging	0.92
R7860:Olfr301	UTSW	7	86407911	start gained	probably benign
R8305:Olfr301	UTSW	7	86412779	missense	probably damaging	1.00
R8338:Olfr301	UTSW	7	86412494	missense	probably benign	0.14
R8487:Olfr301	UTSW	7	86412439	missense	probably benign	0.34
Z1176:Olfr301	UTSW	7	86412698	missense	probably benign	0.16

Posted On

2013-12-03