Mutagenetix > Incidental Mutation

Incidental Mutation 'R0218:Or5e1'

33661

Institutional Source

Beutler Lab

Gene Symbol

Or5e1

Ensembl Gene

ENSMUSG00000051200

Gene Name

olfactory receptor family 5 subfamily E member 1

Synonyms

GA_x6K02T2PBJ9-11084889-11085818, Olfr513, MOR195-1

MMRRC Submission

038467-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R0218 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108354065-108354994 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 108354781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 239 (C239*)

Ref Sequence

ENSEMBL: ENSMUSP00000149440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055146] [ENSMUST00000214670]

AlphaFold

Q8VFZ3

Predicted Effect

probably null
Transcript: ENSMUST00000055146
AA Change: C239*

SMART Domains

Protein: ENSMUSP00000050578
Gene: ENSMUSG00000051200
AA Change: C239*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	307	2.7e-55	PFAM
Pfam:7TM_GPCR_Srsx	33	304	2.3e-6	PFAM
Pfam:7tm_1	39	289	2.8e-20	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000214670
AA Change: C239*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

98% (53/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	T	G	8: 44,079,477 (GRCm39)	Q249P	probably benign	Het
Adgrv1	C	T	13: 81,255,017 (GRCm39)		probably null	Het
Ccdc110	A	G	8: 46,387,761 (GRCm39)		probably benign	Het
Cd200r1	T	A	16: 44,609,106 (GRCm39)		probably benign	Het
Cdkl1	A	T	12: 69,836,809 (GRCm39)	D40E	probably benign	Het
Cdx1	A	G	18: 61,153,436 (GRCm39)		probably benign	Het
Cenpp	T	A	13: 49,801,108 (GRCm39)	K103N	possibly damaging	Het
Cep162	A	G	9: 87,093,862 (GRCm39)	Y839H	possibly damaging	Het
Chac1	T	A	2: 119,183,941 (GRCm39)	L181*	probably null	Het
Ciapin1	G	T	8: 95,554,938 (GRCm39)	Q173K	probably damaging	Het
Cmklr2	T	A	1: 63,222,690 (GRCm39)	N182Y	probably benign	Het
Dgcr2	A	G	16: 17,667,650 (GRCm39)	C270R	probably damaging	Het
Dlc1	A	G	8: 37,317,383 (GRCm39)	S431P	probably benign	Het
Efcab12	T	C	6: 115,791,611 (GRCm39)		probably benign	Het
Ehbp1	A	T	11: 22,181,992 (GRCm39)		probably benign	Het
Enpp3	A	T	10: 24,652,767 (GRCm39)	V730D	possibly damaging	Het
Fam174b	A	G	7: 73,390,512 (GRCm39)	T88A	probably benign	Het
Fancl	A	G	11: 26,421,337 (GRCm39)	K364E	probably benign	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Galc	A	G	12: 98,188,906 (GRCm39)	Y402H	probably damaging	Het
Gga2	T	C	7: 121,598,123 (GRCm39)	N324D	possibly damaging	Het
Hc	G	T	2: 34,918,086 (GRCm39)	F732L	probably damaging	Het
Heca	T	C	10: 17,791,463 (GRCm39)	M198V	probably benign	Het
Herc6	C	A	6: 57,596,586 (GRCm39)	H509N	probably benign	Het
Irf2bpl	A	T	12: 86,929,398 (GRCm39)	M425K	probably benign	Het
Mael	C	T	1: 166,066,159 (GRCm39)	G26D	probably damaging	Het
Map1a	A	G	2: 121,135,906 (GRCm39)	T2241A	probably benign	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Mdga2	A	G	12: 66,701,894 (GRCm39)	S505P	probably damaging	Het
Mdm1	A	G	10: 117,992,783 (GRCm39)		probably benign	Het
Mex3b	A	T	7: 82,518,312 (GRCm39)	E209V	probably damaging	Het
Mrgprx3-ps	T	C	7: 46,959,154 (GRCm39)	E279G	possibly damaging	Het
Ms4a20	A	T	19: 11,093,801 (GRCm39)	Y10*	probably null	Het
Nfe2l1	A	T	11: 96,718,439 (GRCm39)	L32Q	probably damaging	Het
Npas1	C	T	7: 16,195,818 (GRCm39)	V285I	probably benign	Het
Or5h19	C	T	16: 58,856,456 (GRCm39)	V215I	probably benign	Het
Or9i14	T	C	19: 13,792,342 (GRCm39)	N204S	probably benign	Het
Osr1	A	G	12: 9,629,639 (GRCm39)	T171A	probably benign	Het
Ppp3cb	A	T	14: 20,574,044 (GRCm39)	C265S	probably damaging	Het
Pramel27	A	G	4: 143,578,401 (GRCm39)	I220M	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Simc1	T	C	13: 54,674,417 (GRCm39)	Y922H	probably damaging	Het
Slc25a39	A	G	11: 102,297,056 (GRCm39)	F56L	probably benign	Het
Smg8	A	G	11: 86,976,948 (GRCm39)	L211P	probably damaging	Het
Sncaip	A	G	18: 53,040,400 (GRCm39)	S805G	probably benign	Het
Sra1	T	C	18: 36,809,662 (GRCm39)		probably benign	Het
Tas2r104	T	G	6: 131,662,055 (GRCm39)	D218A	probably damaging	Het
Unc45b	A	G	11: 82,802,686 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,075,040 (GRCm39)		probably null	Het
Washc2	T	A	6: 116,225,007 (GRCm39)	L785*	probably null	Het
Zfp30	A	G	7: 29,493,063 (GRCm39)	E439G	probably damaging	Het
Zfp518a	A	G	19: 40,901,072 (GRCm39)	T334A	probably benign	Het

Other mutations in Or5e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02491:Or5e1	APN	7	108,354,321 (GRCm39)	missense	probably damaging	1.00
IGL03086:Or5e1	APN	7	108,355,003 (GRCm39)	utr 3 prime	probably benign
FR4340:Or5e1	UTSW	7	108,354,161 (GRCm39)	small insertion	probably benign
IGL02799:Or5e1	UTSW	7	108,354,830 (GRCm39)	missense	probably benign
R1103:Or5e1	UTSW	7	108,354,090 (GRCm39)	missense	possibly damaging	0.92
R1251:Or5e1	UTSW	7	108,354,114 (GRCm39)	missense	probably damaging	0.99
R1450:Or5e1	UTSW	7	108,354,719 (GRCm39)	missense	probably damaging	1.00
R1582:Or5e1	UTSW	7	108,354,317 (GRCm39)	missense	probably benign	0.04
R1608:Or5e1	UTSW	7	108,354,309 (GRCm39)	missense	probably damaging	0.99
R1726:Or5e1	UTSW	7	108,354,215 (GRCm39)	missense	probably benign	0.00
R1880:Or5e1	UTSW	7	108,354,335 (GRCm39)	missense	probably damaging	1.00
R1881:Or5e1	UTSW	7	108,354,335 (GRCm39)	missense	probably damaging	1.00
R2136:Or5e1	UTSW	7	108,354,430 (GRCm39)	missense	possibly damaging	0.58
R2216:Or5e1	UTSW	7	108,354,819 (GRCm39)	missense	probably damaging	1.00
R4006:Or5e1	UTSW	7	108,354,468 (GRCm39)	missense	probably damaging	1.00
R4603:Or5e1	UTSW	7	108,354,834 (GRCm39)	missense	probably damaging	1.00
R4881:Or5e1	UTSW	7	108,354,612 (GRCm39)	missense	probably damaging	1.00
R5132:Or5e1	UTSW	7	108,354,477 (GRCm39)	missense	probably damaging	1.00
R5426:Or5e1	UTSW	7	108,354,924 (GRCm39)	missense	possibly damaging	0.94
R5679:Or5e1	UTSW	7	108,354,203 (GRCm39)	missense	probably damaging	0.97
R5848:Or5e1	UTSW	7	108,354,781 (GRCm39)	nonsense	probably null
R5911:Or5e1	UTSW	7	108,354,882 (GRCm39)	missense	probably benign	0.36
R6474:Or5e1	UTSW	7	108,354,236 (GRCm39)	missense	probably damaging	1.00
R7016:Or5e1	UTSW	7	108,354,918 (GRCm39)	missense	probably damaging	1.00
R7783:Or5e1	UTSW	7	108,354,776 (GRCm39)	missense	probably damaging	1.00
R8113:Or5e1	UTSW	7	108,354,438 (GRCm39)	missense	probably damaging	1.00
R8385:Or5e1	UTSW	7	108,354,511 (GRCm39)	nonsense	probably null
R9429:Or5e1	UTSW	7	108,354,412 (GRCm39)	missense	probably damaging	0.98
R9746:Or5e1	UTSW	7	108,354,639 (GRCm39)	missense	probably benign
Z1088:Or5e1	UTSW	7	108,354,311 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TCTGCAACTCCAATGTGATCCACC -3'
(R):5'- AGTGCTGCATCCTAGTATCCTGCTC -3'

Sequencing Primer
(F):5'- AATGTGATCCACCACTTCTACTGTG -3'
(R):5'- ATCCTAGTATCCTGCTCACTATGAAG -3'

Posted On

2013-05-09