Mutagenetix > Incidental Mutation

Incidental Mutation 'R4695:Or51e1'

355624

Institutional Source

Beutler Lab

Gene Symbol

Or51e1

Ensembl Gene

ENSMUSG00000070423

Gene Name

olfactory receptor family 51 subfamily E member 1

Synonyms

GA_x6K02T2PBJ9-5425951-5426904, MOR18-1, Olfr558

MMRRC Submission

042016-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R4695 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102351530-102361261 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 102358764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 99 (C99W)

Ref Sequence

ENSEMBL: ENSMUSP00000091674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084817] [ENSMUST00000094124] [ENSMUST00000216312]

AlphaFold

Q8VGZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000084817

SMART Domains

Protein: ENSMUSP00000081877
Gene: ENSMUSG00000066273

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	317	2.1e-117	PFAM
Pfam:7TM_GPCR_Srsx	41	211	7.5e-11	PFAM
Pfam:7tm_1	47	299	2.4e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000094124
AA Change: C99W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091674
Gene: ENSMUSG00000070423
AA Change: C99W

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	6.2e-117	PFAM
Pfam:7TM_GPCR_Srsx	37	308	2.4e-7	PFAM
Pfam:7tm_1	43	293	2.4e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210002

Predicted Effect

probably benign
Transcript: ENSMUST00000216312

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	T	A	17: 33,750,713 (GRCm39)	M251K	possibly damaging	Het
Adcy2	A	T	13: 68,875,962 (GRCm39)	H513Q	possibly damaging	Het
Afg2a	T	G	3: 37,512,474 (GRCm39)	F713C	probably damaging	Het
Ahctf1	A	G	1: 179,580,619 (GRCm39)	L1861P	possibly damaging	Het
Apc2	C	A	10: 80,146,877 (GRCm39)	R615S	probably damaging	Het
Arhgap45	A	C	10: 79,861,364 (GRCm39)	D509A	probably damaging	Het
Atp6v1c2	T	C	12: 17,351,208 (GRCm39)	T108A	probably benign	Het
Blm	T	A	7: 80,143,976 (GRCm39)	D821V	probably damaging	Het
C3	T	A	17: 57,528,057 (GRCm39)	I721L	probably benign	Het
Ccdc13	A	T	9: 121,649,826 (GRCm39)	V207E	probably damaging	Het
Ccndbp1	C	T	2: 120,845,208 (GRCm39)		probably benign	Het
Cd180	A	C	13: 102,842,268 (GRCm39)	Q438P	probably benign	Het
Cd248	C	T	19: 5,118,473 (GRCm39)	T107M	probably damaging	Het
Cdan1	G	A	2: 120,558,864 (GRCm39)	R445C	probably damaging	Het
Cic	C	A	7: 24,973,013 (GRCm39)	H915N	possibly damaging	Het
Cox8c	T	C	12: 102,865,742 (GRCm39)	S40P	possibly damaging	Het
Cyp2d34	A	T	15: 82,501,092 (GRCm39)	C347S	probably benign	Het
Dhx30	A	T	9: 109,914,356 (GRCm39)	F974I	probably damaging	Het
Dlec1	A	T	9: 118,972,221 (GRCm39)	T1414S	probably benign	Het
Dlg2	C	A	7: 92,087,170 (GRCm39)		probably null	Het
Dynlt5	T	A	4: 102,861,426 (GRCm39)	I136K	probably damaging	Het
Dzip1l	T	A	9: 99,529,258 (GRCm39)	M329K	probably benign	Het
Dzip3	A	T	16: 48,771,924 (GRCm39)	L582I	probably damaging	Het
Emilin2	T	C	17: 71,559,773 (GRCm39)	Y1068C	probably damaging	Het
Fam221b	T	A	4: 43,659,622 (GRCm39)		probably null	Het
Fbxw22	A	G	9: 109,207,939 (GRCm39)	I444T	probably damaging	Het
Flnc	T	A	6: 29,440,428 (GRCm39)	N245K	probably damaging	Het
Fnip1	T	A	11: 54,390,245 (GRCm39)	I380N	probably damaging	Het
Gbf1	C	T	19: 46,247,606 (GRCm39)	R181*	probably null	Het
Igkv6-17	T	A	6: 70,348,486 (GRCm39)	F12I	probably benign	Het
Itln1	C	A	1: 171,358,645 (GRCm39)	G174V	probably damaging	Het
Lrrc52	A	G	1: 167,293,660 (GRCm39)		probably null	Het
LTO1	T	C	7: 144,482,715 (GRCm39)		probably null	Het
Matn2	A	G	15: 34,403,071 (GRCm39)	Y432C	probably damaging	Het
Metap1d	A	G	2: 71,355,305 (GRCm39)	*336W	probably null	Het
Mgam2-ps	T	A	6: 40,779,489 (GRCm39)		noncoding transcript	Het
Mrps9	T	A	1: 42,901,675 (GRCm39)	V61D	possibly damaging	Het
Myh7b	T	C	2: 155,456,097 (GRCm39)	Y161H	probably damaging	Het
Myh9	T	A	15: 77,653,053 (GRCm39)	D1428V	probably damaging	Het
N4bp3	A	T	11: 51,535,306 (GRCm39)		probably null	Het
Nat9	T	A	11: 115,075,416 (GRCm39)	Q75L	probably benign	Het
Nop2	T	C	6: 125,121,519 (GRCm39)	V767A	probably benign	Het
Ntrk2	A	G	13: 59,274,307 (GRCm39)	K728E	probably damaging	Het
Or5p72	G	A	7: 108,022,196 (GRCm39)	M139I	probably benign	Het
Or7g21	T	A	9: 19,032,306 (GRCm39)	H15Q	probably null	Het
Pcdhgb2	A	G	18: 37,825,375 (GRCm39)	T789A	probably benign	Het
Pcyt2	T	C	11: 120,502,000 (GRCm39)	D321G	probably benign	Het
Rad9a	G	A	19: 4,250,560 (GRCm39)	R85C	probably damaging	Het
Rbbp8	A	T	18: 11,854,839 (GRCm39)	K355*	probably null	Het
Rhag	T	C	17: 41,147,358 (GRCm39)	Y407H	probably damaging	Het
Robo4	G	A	9: 37,314,495 (GRCm39)	V161M	probably damaging	Het
Rpl27-ps3	C	A	18: 6,332,922 (GRCm39)	N97K	probably benign	Het
Slc45a4	A	G	15: 73,453,924 (GRCm39)	I691T	possibly damaging	Het
Slc9a9	A	T	9: 94,818,502 (GRCm39)		probably benign	Het
Stard13	A	G	5: 150,984,280 (GRCm39)	F619L	probably benign	Het
Stt3b	A	T	9: 115,083,862 (GRCm39)	V438E	probably damaging	Het
Tacr3	C	T	3: 134,535,182 (GRCm39)	T50I	probably benign	Het
Tacr3	G	T	3: 134,635,690 (GRCm39)	C298F	probably damaging	Het
Taok3	C	T	5: 117,366,131 (GRCm39)	T394M	probably benign	Het
Tgfb1i1	A	G	7: 127,848,348 (GRCm39)	D128G	probably damaging	Het
Tgfbr3l	G	T	8: 4,300,574 (GRCm39)	V251L	probably benign	Het
Tom1l2	C	G	11: 60,161,259 (GRCm39)	R84P	probably damaging	Het
Top3a	A	G	11: 60,633,238 (GRCm39)	S953P	probably benign	Het
Trappc10	T	C	10: 78,033,697 (GRCm39)	K957E	probably damaging	Het
Ttn	T	A	2: 76,565,668 (GRCm39)	E28228V	probably damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vdr	A	T	15: 97,756,801 (GRCm39)		probably null	Het
Zfp42	A	T	8: 43,749,168 (GRCm39)	L111Q	probably damaging	Het

Other mutations in Or51e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01670:Or51e1	APN	7	102,358,772 (GRCm39)	missense	probably damaging	0.99
IGL01925:Or51e1	APN	7	102,359,410 (GRCm39)	missense	probably damaging	0.98
IGL02172:Or51e1	APN	7	102,359,051 (GRCm39)	missense	probably benign
R0197:Or51e1	UTSW	7	102,359,202 (GRCm39)	missense	probably damaging	1.00
R0883:Or51e1	UTSW	7	102,359,202 (GRCm39)	missense	probably damaging	1.00
R1870:Or51e1	UTSW	7	102,358,961 (GRCm39)	missense	possibly damaging	0.92
R2894:Or51e1	UTSW	7	102,358,882 (GRCm39)	missense	probably damaging	0.99
R4033:Or51e1	UTSW	7	102,358,697 (GRCm39)	missense	probably damaging	1.00
R4738:Or51e1	UTSW	7	102,359,378 (GRCm39)	missense	probably damaging	1.00
R4739:Or51e1	UTSW	7	102,359,378 (GRCm39)	missense	probably damaging	1.00
R4740:Or51e1	UTSW	7	102,359,378 (GRCm39)	missense	probably damaging	1.00
R4901:Or51e1	UTSW	7	102,359,405 (GRCm39)	missense	probably benign	0.00
R5187:Or51e1	UTSW	7	102,358,868 (GRCm39)	missense	probably damaging	1.00
R5385:Or51e1	UTSW	7	102,358,553 (GRCm39)	missense	probably damaging	1.00
R5529:Or51e1	UTSW	7	102,358,900 (GRCm39)	nonsense	probably null
R6666:Or51e1	UTSW	7	102,359,135 (GRCm39)	splice site	probably null
R7318:Or51e1	UTSW	7	102,359,226 (GRCm39)	nonsense	probably null
R7453:Or51e1	UTSW	7	102,358,724 (GRCm39)	missense	probably damaging	0.99
R7546:Or51e1	UTSW	7	102,358,996 (GRCm39)	missense	probably damaging	1.00
R7643:Or51e1	UTSW	7	102,358,745 (GRCm39)	missense	probably benign	0.00
R8387:Or51e1	UTSW	7	102,359,402 (GRCm39)	missense	probably benign
R8984:Or51e1	UTSW	7	102,359,219 (GRCm39)	missense	possibly damaging	0.60
R9154:Or51e1	UTSW	7	102,358,541 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTTAATAGGCCTTCCAGGATTGG -3'
(R):5'- TGCCATTAGTACTGCACCCC -3'

Sequencing Primer
(F):5'- ACCTTATTGCTGTGCTAGGTAAC -3'
(R):5'- ATTAGTACTGCACCCCTGACC -3'

Posted On

2015-10-21