Mutagenetix > Incidental Mutation

Incidental Mutation 'R7680:Or6e1'

592721

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

045746-MU

Accession Numbers

Essential gene?

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

Stock #

R7680 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54519353-54520382 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54519837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 172 (I172F)

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: I172F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054361
Gene: ENSMUSG00000048153
AA Change: I172F

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: I172F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (53/53)

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
2510002D24Rik	A	G	16: 18,657,958 (GRCm39)	D104G	possibly damaging	Het
Ahi1	G	T	10: 20,883,667 (GRCm39)	C844F	possibly damaging	Het
Bspry	T	C	4: 62,414,828 (GRCm39)	*474Q	probably null	Het
Car9	T	A	4: 43,507,250 (GRCm39)	D65E	probably damaging	Het
Ccdc110	T	A	8: 46,394,688 (GRCm39)	M193K	possibly damaging	Het
Ccdc166	A	G	15: 75,853,056 (GRCm39)	S304P	possibly damaging	Het
Cdcp1	T	C	9: 123,012,584 (GRCm39)	Q321R	probably damaging	Het
Cic	T	C	7: 24,991,856 (GRCm39)	V2255A	probably damaging	Het
Cmc2	A	T	8: 117,620,849 (GRCm39)	M44K	probably damaging	Het
Crls1	A	G	2: 132,704,258 (GRCm39)	T223A	probably damaging	Het
Ctnna3	A	T	10: 64,323,329 (GRCm39)	H488L	probably benign	Het
Cyp2r1	A	T	7: 114,152,054 (GRCm39)	I301N	probably damaging	Het
Dkk3	A	T	7: 111,718,570 (GRCm39)	L272Q	probably damaging	Het
Dnah14	A	G	1: 181,513,365 (GRCm39)	N1906S	probably benign	Het
Gm13271	T	C	4: 88,673,367 (GRCm39)	V88A	probably benign	Het
Gphn	C	A	12: 78,459,148 (GRCm39)	L79I	probably benign	Het
Gpr15	A	T	16: 58,538,328 (GRCm39)	W254R	probably damaging	Het
H2-M2	T	C	17: 37,793,916 (GRCm39)	R103G	possibly damaging	Het
Hcn4	T	C	9: 58,767,954 (GRCm39)	S1172P	probably benign	Het
Htr1a	A	G	13: 105,581,539 (GRCm39)	S260G	probably benign	Het
Iftap	T	C	2: 101,440,901 (GRCm39)	E34G	probably damaging	Het
Kif21b	G	T	1: 136,075,607 (GRCm39)		probably null	Het
Lamp1	T	C	8: 13,217,812 (GRCm39)	Y131H	probably benign	Het
Lrrc47	A	C	4: 154,100,558 (GRCm39)	N378T	probably benign	Het
Manea	A	T	4: 26,340,649 (GRCm39)	H104Q	probably damaging	Het
Map4k3	A	G	17: 80,889,305 (GRCm39)	I888T	probably benign	Het
Mark3	T	C	12: 111,613,207 (GRCm39)	M557T	probably benign	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Myh6	C	A	14: 55,186,190 (GRCm39)	C1413F	possibly damaging	Het
Myorg	C	A	4: 41,497,978 (GRCm39)	D551Y	probably damaging	Het
Ncr1	T	A	7: 4,341,123 (GRCm39)	M38K	possibly damaging	Het
Nid2	A	G	14: 19,829,715 (GRCm39)	T669A	probably damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekha7	A	G	7: 115,763,511 (GRCm39)	Y364H	probably benign	Het
Plxnb1	T	A	9: 108,929,571 (GRCm39)	Y142*	probably null	Het
Ptprn	T	C	1: 75,224,537 (GRCm39)	I940V	probably benign	Het
Rnf213	T	C	11: 119,370,382 (GRCm39)	V4728A		Het
Samd9l	A	T	6: 3,372,569 (GRCm39)	L1564Q	probably damaging	Het
Samd9l	A	G	6: 3,376,469 (GRCm39)	I264T	probably damaging	Het
Slc16a7	T	C	10: 125,066,805 (GRCm39)	D278G	probably benign	Het
Slc35f2	T	A	9: 53,715,396 (GRCm39)	V214E	probably damaging	Het
Slc7a5	A	C	8: 122,634,006 (GRCm39)	S114A	probably damaging	Het
St6galnac3	A	G	3: 152,911,047 (GRCm39)	S305P	probably damaging	Het
Stat1	G	A	1: 52,183,368 (GRCm39)	R378Q	probably damaging	Het
Tnfrsf9	T	G	4: 151,014,395 (GRCm39)	C31W	probably damaging	Het
Tnk1	T	C	11: 69,747,571 (GRCm39)	E61G	possibly damaging	Het
Tnks1bp1	T	A	2: 84,889,585 (GRCm39)	D637E	probably benign	Het
Ttc17	C	T	2: 94,196,889 (GRCm39)	G486D	probably benign	Het
Vmn1r30	T	A	6: 58,412,284 (GRCm39)	R183*	probably null	Het
Vmn2r78	A	G	7: 86,604,149 (GRCm39)	T776A	probably damaging	Het
Wrap73	A	G	4: 154,241,079 (GRCm39)	E444G	probably benign	Het
Zc3h13	C	T	14: 75,567,955 (GRCm39)	R1083C	probably damaging	Het
Zfp189	A	G	4: 49,521,547 (GRCm39)		probably benign	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
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'- GGAGCAAGTTGAGAAGGCTTTC -3'
(R):5'- TCCTTGGCACCACTGAGTTC -3'

Sequencing Primer
(F):5'- GAAGGCTTTCTTCCTCTCCTTGG -3'
(R):5'- ACTGAGTTCTTTCTACTGGCAG -3'

Posted On

2019-11-12