Mutagenetix > Incidental Mutation

Incidental Mutation 'R4552:Or2y1e'

334024

Institutional Source

Beutler Lab

Gene Symbol

Or2y1e

Ensembl Gene

ENSMUSG00000101874

Gene Name

olfactory receptor family 2 subfamily Y member 1E

Synonyms

Olfr1391, GA_x6K02T2QP88-6107233-6106298, MOR256-27

MMRRC Submission

041783-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R4552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49218240-49219175 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49218777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 180 (M180L)

Ref Sequence

ENSEMBL: ENSMUSP00000150635 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000187509] [ENSMUST00000215671]

AlphaFold

Q8VFA4

Predicted Effect

probably benign
Transcript: ENSMUST00000187509
AA Change: M180L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000140343
Gene: ENSMUSG00000101874
AA Change: M180L

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	289	2.2e-29	PFAM
Pfam:7tm_4	139	282	6.1e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215671
AA Change: M180L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.2111

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

97% (62/64)

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
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Arhgap33	A	T	7: 30,218,533 (GRCm39)		probably benign	Het
Arid1a	A	C	4: 133,423,010 (GRCm39)		probably benign	Het
C4bp	A	G	1: 130,564,464 (GRCm39)	Y407H	possibly damaging	Het
Camta1	T	C	4: 151,876,959 (GRCm39)	R79G	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Cep128	T	C	12: 91,260,936 (GRCm39)	E309G	probably damaging	Het
Chit1	A	G	1: 134,071,789 (GRCm39)	T100A	probably benign	Het
Dalrd3	A	G	9: 108,449,429 (GRCm39)	D454G	possibly damaging	Het
Ddx19a	G	A	8: 111,705,198 (GRCm39)	Q308*	probably null	Het
Dmxl2	T	C	9: 54,359,047 (GRCm39)	N395S	probably damaging	Het
Dnah17	T	C	11: 117,943,769 (GRCm39)	D3125G	possibly damaging	Het
Dnah5	T	C	15: 28,397,300 (GRCm39)	V3331A	probably benign	Het
Dnah9	T	C	11: 65,732,192 (GRCm39)	E4238G	probably damaging	Het
Dner	T	C	1: 84,361,578 (GRCm39)	Y677C	probably damaging	Het
Epgn	A	T	5: 91,175,421 (GRCm39)	K14*	probably null	Het
Hid1	G	A	11: 115,249,505 (GRCm39)	T240M	possibly damaging	Het
Igbp1b	T	A	6: 138,635,112 (GRCm39)	M111L	probably benign	Het
Kif26b	T	A	1: 178,711,600 (GRCm39)	I740N	probably damaging	Het
Klk4	C	A	7: 43,533,443 (GRCm39)	H101N	probably benign	Het
Mrgpra2b	C	A	7: 47,113,754 (GRCm39)	S300I	probably benign	Het
Mtss2	A	G	8: 111,465,137 (GRCm39)	T464A	probably damaging	Het
Nbas	T	C	12: 13,385,938 (GRCm39)		probably null	Het
Nif3l1	C	T	1: 58,488,483 (GRCm39)		probably benign	Het
Noct	T	A	3: 51,157,589 (GRCm39)	I309N	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Odf2l	A	T	3: 144,856,844 (GRCm39)	T600S	probably benign	Het
Odf4	C	T	11: 68,812,866 (GRCm39)	S264N	probably benign	Het
Or13a17	A	T	7: 140,271,655 (GRCm39)	Y279F	probably damaging	Het
Or1m1	A	G	9: 18,666,430 (GRCm39)	V167A	possibly damaging	Het
Or6c217	T	C	10: 129,737,992 (GRCm39)	M196V	probably benign	Het
Papolb	T	C	5: 142,514,933 (GRCm39)	I237V	probably benign	Het
Parpbp	T	A	10: 87,929,564 (GRCm39)	Q428L	possibly damaging	Het
Pclo	T	C	5: 14,719,285 (GRCm39)	S1141P	unknown	Het
Plcb1	T	C	2: 135,177,413 (GRCm39)	S582P	probably benign	Het
Ppargc1a	C	T	5: 51,620,557 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,813,346 (GRCm39)	I416L	probably benign	Het
Rhpn1	G	A	15: 75,585,968 (GRCm39)	R627H	probably benign	Het
Ric8a	G	A	7: 140,441,250 (GRCm39)	G182S	probably damaging	Het
Rims1	T	C	1: 22,443,718 (GRCm39)	D895G	probably damaging	Het
Rrp1b	G	A	17: 32,274,984 (GRCm39)		probably benign	Het
Rtf1	T	A	2: 119,561,210 (GRCm39)	D636E	probably benign	Het
Scn3a	T	C	2: 65,354,523 (GRCm39)	D333G	probably benign	Het
Sema6a	A	G	18: 47,424,990 (GRCm39)	L207P	probably damaging	Het
Shcbp1	A	T	8: 4,799,779 (GRCm39)	Y160*	probably null	Het
Slc27a1	A	T	8: 72,032,710 (GRCm39)		probably null	Het
Ston2	C	T	12: 91,608,646 (GRCm39)	R818Q	probably damaging	Het
Tipin	T	A	9: 64,195,385 (GRCm39)		probably null	Het
Tjap1	A	T	17: 46,570,953 (GRCm39)		probably null	Het
Vmn1r117	A	T	7: 20,617,517 (GRCm39)	F177Y	probably damaging	Het
Vmn1r57	A	G	7: 5,223,667 (GRCm39)	D64G	possibly damaging	Het
Vmn2r73	T	A	7: 85,525,055 (GRCm39)	D31V	probably benign	Het
Vmn2r-ps41	A	T	7: 9,180,063 (GRCm39)		noncoding transcript	Het

Other mutations in Or2y1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01768:Or2y1e	APN	11	49,218,958 (GRCm39)	missense	probably damaging	1.00
IGL02171:Or2y1e	APN	11	49,218,862 (GRCm39)	missense	possibly damaging	0.69
IGL03184:Or2y1e	APN	11	49,218,568 (GRCm39)	missense	probably damaging	0.97
R0471:Or2y1e	UTSW	11	49,218,744 (GRCm39)	missense	probably damaging	1.00
R0613:Or2y1e	UTSW	11	49,218,575 (GRCm39)	missense	possibly damaging	0.81
R0616:Or2y1e	UTSW	11	49,218,583 (GRCm39)	missense	probably damaging	1.00
R0825:Or2y1e	UTSW	11	49,218,509 (GRCm39)	missense	probably benign	0.00
R1613:Or2y1e	UTSW	11	49,218,520 (GRCm39)	missense	probably damaging	1.00
R3429:Or2y1e	UTSW	11	49,218,868 (GRCm39)	missense	probably benign	0.00
R3727:Or2y1e	UTSW	11	49,218,622 (GRCm39)	missense	probably benign	0.01
R4256:Or2y1e	UTSW	11	49,218,304 (GRCm39)	missense	probably benign	0.20
R4459:Or2y1e	UTSW	11	49,218,703 (GRCm39)	missense	probably damaging	1.00
R4811:Or2y1e	UTSW	11	49,218,575 (GRCm39)	missense	possibly damaging	0.81
R4881:Or2y1e	UTSW	11	49,219,124 (GRCm39)	missense	probably benign	0.43
R5838:Or2y1e	UTSW	11	49,218,760 (GRCm39)	missense	probably damaging	0.99
R6804:Or2y1e	UTSW	11	49,218,808 (GRCm39)	missense	probably benign	0.16
R6809:Or2y1e	UTSW	11	49,218,687 (GRCm39)	missense	probably benign	0.00
R7763:Or2y1e	UTSW	11	49,218,498 (GRCm39)	missense	probably benign	0.00
R7765:Or2y1e	UTSW	11	49,218,571 (GRCm39)	missense	probably damaging	1.00
R7783:Or2y1e	UTSW	11	49,219,029 (GRCm39)	missense	probably benign	0.00
R9050:Or2y1e	UTSW	11	49,218,930 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- AGCTGTTCAGTGTCCTTGCC -3'
(R):5'- AGCTTTTCTGCGACCAGATG -3'

Sequencing Primer
(F):5'- CTCTACAGAGAGTATGCTTCTAGTG -3'
(R):5'- GACCAGATGTTGACTTGACCTTCAG -3'

Posted On

2015-08-18