Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02197:Or6e1'

284093

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or6e1

Ensembl Gene

ENSMUSG00000048153

Gene Name

olfactory receptor family 6 subfamily E member 1

Synonyms

Olfr49, IC6, GA_x6K02T2QVSB-39745261-39746202, MOR118-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

IGL02197

Quality Score

Status

Chromosome

Chromosomal Location

54519353-54520382 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 54519409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 314 (*314W)

Ref Sequence

ENSEMBL: ENSMUSP00000149840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059996] [ENSMUST00000216214]

AlphaFold

Q9Z1V0

Predicted Effect

probably null
Transcript: ENSMUST00000059996
AA Change: *314W

SMART Domains

Protein: ENSMUSP00000054361
Gene: ENSMUSG00000048153
AA Change: *314W

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	4.4e-51	PFAM
Pfam:7tm_1	39	289	3.5e-26	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000216214
AA Change: *314W

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	T	C	2: 20,885,117 (GRCm39)	S526G	probably benign	Het
Atad2b	A	T	12: 5,068,056 (GRCm39)	N1018I	possibly damaging	Het
Baz1b	A	G	5: 135,237,951 (GRCm39)	E209G	probably benign	Het
Bltp1	A	G	3: 36,960,884 (GRCm39)	T445A	probably damaging	Het
Capn11	T	A	17: 45,950,782 (GRCm39)	T264S	probably benign	Het
Cdh1	A	G	8: 107,380,418 (GRCm39)	E187G	probably benign	Het
Cps1	A	G	1: 67,196,923 (GRCm39)	I325V	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dmbt1	A	G	7: 130,687,152 (GRCm39)		probably benign	Het
Dnaaf3	T	C	7: 4,530,496 (GRCm39)	D203G	probably damaging	Het
Eif2ak3	A	G	6: 70,878,441 (GRCm39)	Y1045C	probably benign	Het
Fam13a	T	A	6: 58,912,586 (GRCm39)	D689V	possibly damaging	Het
Fnip1	T	A	11: 54,384,200 (GRCm39)	L342I	probably damaging	Het
Frk	T	A	10: 34,360,330 (GRCm39)	N110K	probably damaging	Het
Gm5134	T	C	10: 75,790,536 (GRCm39)		probably null	Het
Gm53	T	C	11: 96,142,549 (GRCm39)		noncoding transcript	Het
Gm9312	A	T	12: 24,302,163 (GRCm39)		noncoding transcript	Het
Gm9936	A	G	5: 114,995,152 (GRCm39)		probably benign	Het
Hk3	A	G	13: 55,162,281 (GRCm39)	F108L	probably damaging	Het
Homer2	A	T	7: 81,260,147 (GRCm39)	S296T	probably benign	Het
Itga2b	T	A	11: 102,357,145 (GRCm39)	H245L	probably benign	Het
Ky	T	C	9: 102,414,985 (GRCm39)	F299S	possibly damaging	Het
Lama5	A	G	2: 179,849,012 (GRCm39)	Y224H	possibly damaging	Het
Leng9	G	T	7: 4,151,723 (GRCm39)	L318I	probably damaging	Het
Lpin1	A	G	12: 16,608,408 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,297,224 (GRCm39)	I3246V	probably benign	Het
Map2k3	A	G	11: 60,837,590 (GRCm39)	Y230C	probably damaging	Het
Myef2	T	C	2: 124,955,959 (GRCm39)		probably null	Het
Myh3	A	T	11: 66,989,409 (GRCm39)	I1510L	probably benign	Het
Mypn	T	C	10: 62,959,057 (GRCm39)	D1088G	possibly damaging	Het
Nek9	C	A	12: 85,354,704 (GRCm39)	V745L	probably null	Het
Neu1	T	A	17: 35,153,641 (GRCm39)	V355D	possibly damaging	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Or4c107	A	G	2: 88,789,028 (GRCm39)	T73A	probably benign	Het
Papola	A	T	12: 105,795,442 (GRCm39)	N631I	possibly damaging	Het
Pcnx1	T	C	12: 81,965,878 (GRCm39)	S682P	probably benign	Het
Pcnx1	T	C	12: 82,039,925 (GRCm39)	S2071P	possibly damaging	Het
Pga5	A	G	19: 10,649,277 (GRCm39)		probably benign	Het
Phlda1	T	A	10: 111,343,014 (GRCm39)	M250K	probably damaging	Het
Phox2b	A	G	5: 67,253,869 (GRCm39)		probably benign	Het
Pkdrej	A	G	15: 85,699,994 (GRCm39)	Y1981H	possibly damaging	Het
Pold1	G	A	7: 44,191,663 (GRCm39)	P108S	probably benign	Het
Ptprg	T	G	14: 12,220,613 (GRCm38)	F442V	probably damaging	Het
Rab36	A	G	10: 74,887,874 (GRCm39)	I248M	probably damaging	Het
Scnn1b	G	A	7: 121,502,113 (GRCm39)	R257Q	probably null	Het
Sdc1	A	G	12: 8,840,835 (GRCm39)	Q200R	possibly damaging	Het
Slc10a7	A	G	8: 79,242,292 (GRCm39)	T60A	probably damaging	Het
Snx13	A	G	12: 35,156,800 (GRCm39)	D484G	probably damaging	Het
Tlr1	G	A	5: 65,083,797 (GRCm39)	T260M	probably damaging	Het
Tpcn1	A	G	5: 120,691,596 (GRCm39)	V286A	probably damaging	Het
Traip	T	G	9: 107,845,936 (GRCm39)	L343R	possibly damaging	Het
Unc13b	A	G	4: 43,165,828 (GRCm39)	H204R	probably damaging	Het
Unc80	A	G	1: 66,569,224 (GRCm39)	S960G	probably benign	Het
V1ra8	C	T	6: 90,180,184 (GRCm39)	P129L	probably benign	Het
Vps13b	T	A	15: 35,930,202 (GRCm39)	F3980I	probably benign	Het
Vps13d	T	C	4: 144,854,879 (GRCm39)	N2248S	probably benign	Het
Vps26c	G	T	16: 94,302,549 (GRCm39)		probably benign	Het
Wnk4	T	C	11: 101,154,783 (GRCm39)	L324P	probably damaging	Het

Other mutations in Or6e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01062:Or6e1	APN	14	54,520,181 (GRCm39)	missense	probably damaging	1.00
PIT4581001:Or6e1	UTSW	14	54,519,995 (GRCm39)	missense	probably damaging	1.00
R4095:Or6e1	UTSW	14	54,520,188 (GRCm39)	missense	probably benign	0.38
R4673:Or6e1	UTSW	14	54,519,789 (GRCm39)	missense	possibly damaging	0.71
R4795:Or6e1	UTSW	14	54,520,004 (GRCm39)	missense	probably damaging	1.00
R4867:Or6e1	UTSW	14	54,520,086 (GRCm39)	missense	probably benign	0.21
R5206:Or6e1	UTSW	14	54,520,155 (GRCm39)	missense	probably benign
R5567:Or6e1	UTSW	14	54,519,825 (GRCm39)	missense	probably damaging	1.00
R5570:Or6e1	UTSW	14	54,519,825 (GRCm39)	missense	probably damaging	1.00
R5806:Or6e1	UTSW	14	54,520,264 (GRCm39)	missense	probably benign
R5848:Or6e1	UTSW	14	54,520,022 (GRCm39)	missense	possibly damaging	0.90
R7012:Or6e1	UTSW	14	54,519,674 (GRCm39)	missense	possibly damaging	0.84
R7680:Or6e1	UTSW	14	54,519,837 (GRCm39)	missense	probably damaging	0.98
R7787:Or6e1	UTSW	14	54,520,169 (GRCm39)	missense	probably damaging	1.00
R8252:Or6e1	UTSW	14	54,519,704 (GRCm39)	missense	possibly damaging	0.95
R8819:Or6e1	UTSW	14	54,520,070 (GRCm39)	missense	probably benign	0.13
R8820:Or6e1	UTSW	14	54,520,070 (GRCm39)	missense	probably benign	0.13
R9057:Or6e1	UTSW	14	54,520,148 (GRCm39)	missense	probably damaging	1.00
R9171:Or6e1	UTSW	14	54,520,329 (GRCm39)	missense	probably benign	0.01
R9495:Or6e1	UTSW	14	54,520,137 (GRCm39)	missense	probably damaging	0.99
R9666:Or6e1	UTSW	14	54,520,342 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16