Mutagenetix > Incidental Mutation

Incidental Mutation 'R0197:Or51e1'

60770

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

038456-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R0197 (G1)

Quality Score

147

Status

Validated

Chromosome

Chromosomal Location

102351530-102361261 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102359202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 245 (H245Q)

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: H245Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091674
Gene: ENSMUSG00000070423
AA Change: H245Q

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

Meta Mutation Damage Score

0.3435

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 92.5%
20x: 75.9%

Validation Efficiency

97% (121/125)

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
1110002E22Rik	T	C	3: 137,775,632 (GRCm39)	L1607P	probably damaging	Het
1700016H13Rik	T	C	5: 103,796,687 (GRCm39)	*118W	probably null	Het
Abcc2	A	T	19: 43,815,053 (GRCm39)	R1147*	probably null	Het
Acsbg3	A	T	17: 57,190,835 (GRCm39)	N468Y	probably benign	Het
Agap2	A	G	10: 126,927,571 (GRCm39)	T1131A	possibly damaging	Het
Aldh9a1	A	G	1: 167,189,416 (GRCm39)	D388G	probably damaging	Het
Ap3d1	G	T	10: 80,565,876 (GRCm39)	A97E	probably damaging	Het
Arhgef10	T	A	8: 15,012,636 (GRCm39)	V320E	probably damaging	Het
Baiap2l1	C	A	5: 144,202,820 (GRCm39)	V498L	probably damaging	Het
Bltp2	A	C	11: 78,160,530 (GRCm39)		probably benign	Het
Cdh2	T	C	18: 16,762,633 (GRCm39)	N437S	probably benign	Het
Cert1	T	A	13: 96,685,795 (GRCm39)	Y63N	probably benign	Het
Cfap119	T	C	7: 127,184,034 (GRCm39)	E261G	probably damaging	Het
Cfap20dc	C	T	14: 8,518,695 (GRCm38)	G254R	probably damaging	Het
Chd1	C	A	17: 15,945,693 (GRCm39)	N72K	probably benign	Het
Cstf2t	A	T	19: 31,062,026 (GRCm39)	M521L	probably benign	Het
Dlx5	T	C	6: 6,881,619 (GRCm39)	K90E	possibly damaging	Het
Dmp1	A	G	5: 104,355,496 (GRCm39)	E32G	possibly damaging	Het
Espnl	T	G	1: 91,272,211 (GRCm39)	Y524D	probably damaging	Het
Fam20c	T	C	5: 138,741,479 (GRCm39)	L30P	probably damaging	Het
Fat1	G	T	8: 45,479,590 (GRCm39)	A2879S	probably benign	Het
Gabrg1	A	T	5: 70,931,732 (GRCm39)	V337D	probably damaging	Het
Gart	C	A	16: 91,420,291 (GRCm39)	D851Y	possibly damaging	Het
Gcc1	T	C	6: 28,420,615 (GRCm39)	H234R	probably damaging	Het
Gemin6	T	A	17: 80,535,524 (GRCm39)	H161Q	probably damaging	Het
Glt6d1	A	G	2: 25,684,082 (GRCm39)	I308T	probably benign	Het
Gm10320	T	C	13: 98,628,491 (GRCm39)	T7A	probably benign	Het
Gm10912	T	C	2: 103,896,875 (GRCm39)	S5P	probably benign	Het
Gmpr2	T	A	14: 55,910,192 (GRCm39)	D7E	possibly damaging	Het
Hc	A	G	2: 34,874,762 (GRCm39)	Y1620H	probably damaging	Het
Hoxa3	T	C	6: 52,147,123 (GRCm39)		probably benign	Het
Ift140	A	G	17: 25,309,907 (GRCm39)	T1105A	probably benign	Het
Kdr	G	T	5: 76,129,082 (GRCm39)	T188N	possibly damaging	Het
Lepr	A	T	4: 101,609,349 (GRCm39)	D312V	possibly damaging	Het
Mcm3	A	G	1: 20,880,329 (GRCm39)	V501A	probably damaging	Het
Mcur1	T	C	13: 43,699,216 (GRCm39)	Y267C	probably damaging	Het
Med13	T	A	11: 86,197,864 (GRCm39)	T736S	probably benign	Het
Med13l	T	C	5: 118,809,067 (GRCm39)		probably benign	Het
Mroh2a	G	C	1: 88,173,764 (GRCm39)	A871P	probably damaging	Het
Ndrg2	T	A	14: 52,144,460 (GRCm39)		probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Onecut2	T	A	18: 64,474,543 (GRCm39)	S365T	possibly damaging	Het
Or13c25	G	A	4: 52,910,849 (GRCm39)	T315M	probably benign	Het
Or4c10	A	G	2: 89,760,545 (GRCm39)	T131A	probably benign	Het
Or4k48	C	T	2: 111,476,136 (GRCm39)	V69I	probably benign	Het
Pds5b	C	A	5: 150,677,896 (GRCm39)	Q505K	probably benign	Het
Pramel22	C	T	4: 143,383,010 (GRCm39)	E70K	possibly damaging	Het
Rfx2	T	C	17: 57,110,722 (GRCm39)	Y88C	probably damaging	Het
Rpl6	T	C	5: 121,346,541 (GRCm39)	V214A	probably benign	Het
Samd3	T	A	10: 26,147,752 (GRCm39)	C476S	possibly damaging	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Shank1	C	T	7: 44,001,718 (GRCm39)	R1146W	unknown	Het
Smcr8	T	C	11: 60,668,941 (GRCm39)	Y30H	probably damaging	Het
Smpd4	T	A	16: 17,459,461 (GRCm39)		probably null	Het
Strip1	C	A	3: 107,521,929 (GRCm39)	D750Y	probably damaging	Het
Svep1	T	C	4: 58,070,851 (GRCm39)	K2312E	possibly damaging	Het
Taf1c	A	T	8: 120,326,722 (GRCm39)	I438N	probably damaging	Het
Tnfaip1	A	T	11: 78,420,840 (GRCm39)		probably benign	Het
Unc45b	T	A	11: 82,831,031 (GRCm39)	L797Q	possibly damaging	Het
Usp24	T	A	4: 106,264,330 (GRCm39)	W1754R	probably damaging	Het
Utp20	G	A	10: 88,613,378 (GRCm39)	P1301L	probably benign	Het
Vmn2r115	T	A	17: 23,578,755 (GRCm39)	S743T	probably damaging	Het
Vps41	T	G	13: 19,038,833 (GRCm39)		probably null	Het
Vps72	G	T	3: 95,029,894 (GRCm39)	L304F	probably damaging	Het
Wiz	A	T	17: 32,575,415 (GRCm39)	I907N	probably damaging	Het
Zfp521	T	C	18: 13,978,119 (GRCm39)	T765A	probably benign	Het
Zfp616	A	T	11: 73,976,500 (GRCm39)	H923L	probably damaging	Het
Zp2	A	T	7: 119,742,799 (GRCm39)		probably benign	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
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
R4695:Or51e1	UTSW	7	102,358,764 (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'- GACATTGCCTCGTGTTGCCAAG -3'
(R):5'- CCATAGACAATGGGGTTGAGCACAG -3'

Sequencing Primer
(F):5'- GTGCAGTACTAATGGCACCC -3'
(R):5'- TTGAGCACAGGAGGAACTAGC -3'

Posted On

2013-07-24