Mutagenetix > Incidental Mutation

Incidental Mutation 'R8819:Or6e1'

672945

Institutional Source

Beutler Lab

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

MMRRC Submission

068652-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R8819 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54519353-54520382 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54520070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 94 (G94D)

Ref Sequence

ENSEMBL: ENSMUSP00000149840 (fasta)

Gene Model

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

AlphaFold

Q9Z1V0

Predicted Effect

probably benign
Transcript: ENSMUST00000059996
AA Change: G94D

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000054361
Gene: ENSMUSG00000048153
AA Change: G94D

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 benign
Transcript: ENSMUST00000216214
AA Change: G94D

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (52/52)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,547,576 (GRCm39)	L266P	probably damaging	Het
Als2cl	T	C	9: 110,714,855 (GRCm39)	F125L	probably benign	Het
Arhgap33	T	C	7: 30,228,165 (GRCm39)	I406V	probably benign	Het
Bag5	T	C	12: 111,677,709 (GRCm39)	N38S	probably benign	Het
Clk2	T	A	3: 89,082,730 (GRCm39)	M392K	probably damaging	Het
Cngb1	C	T	8: 95,980,037 (GRCm39)		probably null	Het
Cps1	T	A	1: 67,267,439 (GRCm39)	N1402K	possibly damaging	Het
Cracd	CTGAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAG	C	5: 77,004,793 (GRCm39)		probably benign	Het
Cyp2u1	T	C	3: 131,092,016 (GRCm39)	H168R	probably damaging	Het
Dapl1	T	C	2: 59,335,056 (GRCm39)	L70P	probably damaging	Het
Ddr2	T	A	1: 169,805,483 (GRCm39)	K836*	probably null	Het
Dnmbp	C	T	19: 43,889,854 (GRCm39)	V638M	probably benign	Het
Dsel	A	G	1: 111,787,994 (GRCm39)	L847P	probably benign	Het
Eef1b2	T	C	1: 63,217,268 (GRCm39)		probably benign	Het
Eif1ad8	C	T	12: 87,563,910 (GRCm39)	R82*	probably null	Het
Fbll1	T	C	11: 35,688,802 (GRCm39)	K154E	probably benign	Het
Fbxw17	A	T	13: 50,587,351 (GRCm39)	K437M	possibly damaging	Het
Fktn	T	C	4: 53,735,001 (GRCm39)	V174A	possibly damaging	Het
Frem1	C	A	4: 82,821,754 (GRCm39)	S2118I	probably damaging	Het
Gabrb3	T	C	7: 57,442,329 (GRCm39)	S212P	probably damaging	Het
Gimap9	A	G	6: 48,654,821 (GRCm39)	D136G	probably benign	Het
Hps1	T	C	19: 42,759,648 (GRCm39)	I55V	probably benign	Het
Huwe1	A	G	X: 150,669,993 (GRCm39)	K1482R	probably benign	Het
Ift46	C	T	9: 44,701,819 (GRCm39)	T283I	probably damaging	Het
Ldb2	G	A	5: 44,956,757 (GRCm39)	Q27*	probably null	Het
Lmcd1	T	A	6: 112,306,770 (GRCm39)	I314N	probably damaging	Het
Lypd9	T	G	11: 58,337,129 (GRCm39)	S115R	probably damaging	Het
Mctp2	C	A	7: 71,879,081 (GRCm39)	V259L	probably benign	Het
Midn	T	G	10: 79,990,234 (GRCm39)	S302A	probably damaging	Het
Ncor2	A	G	5: 125,106,291 (GRCm39)	V797A		Het
Npm2	A	G	14: 70,885,768 (GRCm39)	S146P	probably damaging	Het
Npr1	G	A	3: 90,372,201 (GRCm39)	R204C	probably damaging	Het
Or2w2	G	A	13: 21,757,999 (GRCm39)	S209L	probably benign	Het
Or52n3	T	A	7: 104,530,862 (GRCm39)	V316D	possibly damaging	Het
Paip2b	A	C	6: 83,791,738 (GRCm39)	M48R	probably damaging	Het
Pcsk2	T	A	2: 143,642,990 (GRCm39)	H422Q	probably damaging	Het
Pdzph1	G	C	17: 59,187,715 (GRCm39)	Y1168*	probably null	Het
Peli2	G	A	14: 48,490,130 (GRCm39)	E201K	possibly damaging	Het
Prelp	T	C	1: 133,842,878 (GRCm39)	N89S	probably damaging	Het
Rapgef3	T	C	15: 97,646,538 (GRCm39)	N799S	probably benign	Het
Rel	C	T	11: 23,695,626 (GRCm39)	R219H	probably damaging	Het
Relch	T	A	1: 105,654,179 (GRCm39)	F873L	possibly damaging	Het
Rimbp3	T	C	16: 17,028,771 (GRCm39)	S732P	probably benign	Het
Rock1	A	G	18: 10,070,626 (GRCm39)	F1196S	probably damaging	Het
Ryr3	A	G	2: 112,690,069 (GRCm39)	V1180A	probably benign	Het
Ryr3	G	A	2: 112,466,137 (GRCm39)	R4795W	probably damaging	Het
Scn11a	T	C	9: 119,645,586 (GRCm39)	I123V	probably benign	Het
Sema4b	G	C	7: 79,870,248 (GRCm39)	E475D	probably damaging	Het
Serinc2	C	A	4: 130,149,172 (GRCm39)	M343I	probably damaging	Het
Serinc5	G	T	13: 92,844,544 (GRCm39)	V429F	probably benign	Het
Tnfsf10	G	A	3: 27,389,451 (GRCm39)	V171M	probably benign	Het
Zfp27	T	C	7: 29,594,013 (GRCm39)	K651E	probably benign	Het
Zfp438	A	G	18: 5,213,383 (GRCm39)	I525T	possibly 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
IGL02197:Or6e1	APN	14	54,519,409 (GRCm39)	makesense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TGATGAGAAGCAATCCAGACATC -3'
(R):5'- GCAGGTGCTCATATTCCTGG -3'

Sequencing Primer
(F):5'- TGAGAAGCAATCCAGACATCCATGAG -3'
(R):5'- ACTTCCTCATTCTGCTGGGAAAC -3'

Posted On

2021-04-30