Mutagenetix > Incidental Mutation

Incidental Mutation 'R5570:Or6e1'

435635

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

043127-MU

Accession Numbers

Essential gene?

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

Stock #

R5570 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54519353-54520382 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54519825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 176 (F176L)

Ref Sequence

ENSEMBL: ENSMUSP00000149840 (fasta)

Gene Model

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

AlphaFold

Q9Z1V0

Predicted Effect

probably damaging
Transcript: ENSMUST00000059996
AA Change: F176L

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

SMART Domains

Protein: ENSMUSP00000054361
Gene: ENSMUSG00000048153
AA Change: F176L

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 damaging
Transcript: ENSMUST00000216214
AA Change: F176L

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.5%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrv1	C	A	9: 36,605,577 (GRCm39)	S41R	probably damaging	Het
Aqr	G	A	2: 113,979,451 (GRCm39)	T328M	probably damaging	Het
Arhgap26	C	A	18: 39,232,671 (GRCm39)	D99E	probably damaging	Het
Boc	G	A	16: 44,313,187 (GRCm39)	T559I	probably damaging	Het
Cadps	A	T	14: 12,473,497 (GRCm38)	I876N	possibly damaging	Het
Cep72	T	C	13: 74,188,260 (GRCm39)	Q211R	probably benign	Het
Clmp	T	C	9: 40,683,826 (GRCm39)		probably null	Het
Coq6	T	A	12: 84,415,413 (GRCm39)	D145E	probably benign	Het
Crym	T	C	7: 119,801,116 (GRCm39)	E11G	probably benign	Het
Defb36	T	A	2: 152,454,503 (GRCm39)	V54E	probably damaging	Het
Dlg5	C	A	14: 24,242,981 (GRCm39)	E55*	probably null	Het
Dock2	G	T	11: 34,618,233 (GRCm39)	R128S	probably damaging	Het
E330034G19Rik	A	G	14: 24,346,892 (GRCm39)	K60E	possibly damaging	Het
Eps8l2	G	A	7: 140,934,920 (GRCm39)	R76Q	possibly damaging	Het
Espn	T	C	4: 152,208,237 (GRCm39)	E460G	probably damaging	Het
Fbxl18	A	G	5: 142,881,022 (GRCm39)		probably benign	Het
Fgd5	T	C	6: 91,965,668 (GRCm39)	S476P	probably damaging	Het
Gsto1	T	C	19: 47,846,338 (GRCm39)	W62R	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Gxylt1	A	G	15: 93,152,180 (GRCm39)		probably null	Het
Hs6st1	C	T	1: 36,142,719 (GRCm39)	P218L	probably benign	Het
Kif5c	A	G	2: 49,620,211 (GRCm39)	D226G	possibly damaging	Het
Krt1	A	G	15: 101,755,340 (GRCm39)	F473S	probably benign	Het
Lpxn	T	A	19: 12,810,023 (GRCm39)	M265K	possibly damaging	Het
Map3k9	A	G	12: 81,778,798 (GRCm39)	L505P	possibly damaging	Het
Mcm3ap	C	T	10: 76,316,930 (GRCm39)	R645W	possibly damaging	Het
Msr1	T	C	8: 40,064,760 (GRCm39)	I305V	probably benign	Het
Muc4	A	G	16: 32,598,066 (GRCm39)	E3237G	possibly damaging	Het
Necap1	T	C	6: 122,858,471 (GRCm39)	F105L	probably damaging	Het
Nploc4	C	T	11: 120,275,440 (GRCm39)	V499M	probably benign	Het
Nup93	T	C	8: 95,041,298 (GRCm39)	V812A	probably damaging	Het
Or10ak7	T	A	4: 118,791,263 (GRCm39)	I259F	possibly damaging	Het
Or9g3	G	A	2: 85,589,994 (GRCm39)	S242F	probably damaging	Het
Parn	G	A	16: 13,483,794 (GRCm39)	P50L	probably damaging	Het
Pcdhb7	T	C	18: 37,477,224 (GRCm39)	C787R	probably benign	Het
Pdk2	A	T	11: 94,920,826 (GRCm39)	I175N	probably damaging	Het
Pelo	T	C	13: 115,226,152 (GRCm39)	I102V	probably benign	Het
Phf12	A	G	11: 77,908,937 (GRCm39)	D339G	possibly damaging	Het
Phlpp1	A	T	1: 106,101,162 (GRCm39)	I477F	probably benign	Het
Pigt	T	A	2: 164,343,482 (GRCm39)	Y319*	probably null	Het
Pmpca	A	G	2: 26,280,553 (GRCm39)	E133G	probably damaging	Het
Ptgs2	A	G	1: 149,979,859 (GRCm39)	I321M		Het
Pus7l	G	A	15: 94,425,746 (GRCm39)	P552S	probably benign	Het
Qsox2	A	G	2: 26,115,230 (GRCm39)	M1T	probably null	Het
Rara	C	G	11: 98,863,478 (GRCm39)	R382G	probably damaging	Het
Rbbp6	A	G	7: 122,601,057 (GRCm39)		probably benign	Het
Rev3l	T	C	10: 39,728,071 (GRCm39)		probably null	Het
Robo3	T	A	9: 37,336,571 (GRCm39)	Y399F	possibly damaging	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Skint3	A	G	4: 112,092,995 (GRCm39)	M20V	probably benign	Het
Slc17a6	A	G	7: 51,308,504 (GRCm39)	D276G	probably benign	Het
Sult3a2	A	T	10: 33,654,268 (GRCm39)	V128D	probably damaging	Het
Syt3	T	A	7: 44,040,043 (GRCm39)	V92E	possibly damaging	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Utp14b	G	A	1: 78,643,118 (GRCm39)	D339N	probably damaging	Het
Vars1	T	C	17: 35,235,214 (GRCm39)	F1259L	probably benign	Het
Vmn1r115	A	C	7: 20,578,555 (GRCm39)	V119G	possibly damaging	Het
Zc3h12a	C	T	4: 125,014,166 (GRCm39)	R293H	probably damaging	Het
Zfp638	A	T	6: 83,956,170 (GRCm39)	E1592D	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTGCCATAGAAGAGAGACACC -3'
(R):5'- CAGGTATGTGGCCATTTGTAACC -3'

Sequencing Primer
(F):5'- GAGCAAGTTGAGAAGGCTTTC -3'
(R):5'- ATGTGGCCATTTGTAACCCTTTG -3'

Posted On

2016-10-24