Mutagenetix > Incidental Mutation

Incidental Mutation 'R1881:Or5e1'

209115

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

039902-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R1881 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108354065-108354994 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108354335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 91 (S91P)

Ref Sequence

ENSEMBL: ENSMUSP00000149440 (fasta)

Gene Model

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

AlphaFold

Q8VFZ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000055146
AA Change: S91P

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

SMART Domains

Protein: ENSMUSP00000050578
Gene: ENSMUSG00000051200
AA Change: S91P

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 damaging
Transcript: ENSMUST00000214670
AA Change: S91P

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.3%

Validation Efficiency

96% (71/74)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	C	A	11: 84,161,213 (GRCm39)	Y1026*	probably null	Het
Acaca	T	G	11: 84,191,297 (GRCm39)		probably benign	Het
Adcy8	C	T	15: 64,678,503 (GRCm39)	M483I	probably damaging	Het
Adgrb2	G	A	4: 129,904,078 (GRCm39)	G735S	probably damaging	Het
Akap9	A	G	5: 4,100,173 (GRCm39)	T2612A	probably benign	Het
Armc1	A	T	3: 19,189,060 (GRCm39)	S202T	possibly damaging	Het
Arsj	T	C	3: 126,232,486 (GRCm39)	S411P	probably damaging	Het
Ash1l	T	C	3: 88,888,862 (GRCm39)	V247A	probably benign	Het
Camta2	T	C	11: 70,562,842 (GRCm39)	D935G	probably benign	Het
Cc2d2a	G	T	5: 43,898,170 (GRCm39)	V1626F	probably damaging	Het
Cpne3	T	A	4: 19,535,266 (GRCm39)	R255S	probably benign	Het
Cramp1	A	G	17: 25,196,656 (GRCm39)		probably benign	Het
Csf2rb2	C	T	15: 78,176,735 (GRCm39)		probably null	Het
Cstf3	A	T	2: 104,484,563 (GRCm39)	M396L	probably benign	Het
Ctnnd2	A	G	15: 31,005,227 (GRCm39)		probably benign	Het
Cul7	A	T	17: 46,962,888 (GRCm39)	Y173F	probably damaging	Het
Dach1	A	T	14: 98,138,832 (GRCm39)	M537K	probably benign	Het
Ddhd2	T	C	8: 26,217,727 (GRCm39)	I717V	probably damaging	Het
Dnm1	C	T	2: 32,213,742 (GRCm39)	V475I	probably damaging	Het
Dnm3	C	T	1: 162,305,517 (GRCm39)		probably benign	Het
Dsg1c	T	A	18: 20,405,597 (GRCm39)		probably benign	Het
Eaf2	A	T	16: 36,620,941 (GRCm39)		probably benign	Het
En1	T	A	1: 120,530,904 (GRCm39)	V48E	unknown	Het
Eral1	T	A	11: 77,966,875 (GRCm39)	H180L	possibly damaging	Het
Fry	T	A	5: 150,401,511 (GRCm39)	C2760S	probably damaging	Het
Gtf2h3	C	T	5: 124,722,336 (GRCm39)	A113V	probably benign	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Ifnl2	T	A	7: 28,209,112 (GRCm39)	R68W	probably damaging	Het
Il6st	A	G	13: 112,640,947 (GRCm39)	T908A	probably damaging	Het
Krtap4-1	C	T	11: 99,518,990 (GRCm39)	G7S	probably null	Het
Ly75	T	C	2: 60,180,284 (GRCm39)	E631G	probably benign	Het
Mup5	C	A	4: 61,752,868 (GRCm39)	E52*	probably null	Het
Myh15	A	G	16: 48,891,446 (GRCm39)	I189V	probably damaging	Het
Nav3	T	A	10: 109,688,420 (GRCm39)	Q619L	probably damaging	Het
Or14a257	T	C	7: 86,138,646 (GRCm39)	M38V	probably benign	Het
Or1p1	A	T	11: 74,179,492 (GRCm39)	T7S	probably benign	Het
Or4n4b	A	G	14: 50,536,472 (GRCm39)	I98T	probably damaging	Het
Pam	T	C	1: 97,850,876 (GRCm39)	T161A	probably benign	Het
Phf8-ps	T	A	17: 33,284,258 (GRCm39)	D848V	probably damaging	Het
Pigs	T	C	11: 78,232,582 (GRCm39)	V472A	probably benign	Het
Plek	A	T	11: 16,940,111 (GRCm39)	N176K	probably benign	Het
Poc5	A	G	13: 96,535,239 (GRCm39)	N168S	probably benign	Het
Pomt2	G	T	12: 87,182,370 (GRCm39)	A219D	probably damaging	Het
Rttn	T	A	18: 89,033,336 (GRCm39)	S716T	probably damaging	Het
Sema4b	A	T	7: 79,866,540 (GRCm39)	S207C	probably damaging	Het
Slc25a20	G	A	9: 108,557,408 (GRCm39)		probably null	Het
Slc5a6	A	T	5: 31,194,155 (GRCm39)	L634Q	probably damaging	Het
Slfn3	A	G	11: 83,104,202 (GRCm39)	I235V	possibly damaging	Het
Smarcc1	T	A	9: 110,004,167 (GRCm39)	L407Q	probably damaging	Het
Spata32	T	C	11: 103,101,561 (GRCm39)		probably benign	Het
Tdrd3	A	G	14: 87,723,783 (GRCm39)		probably null	Het
Thada	A	G	17: 84,744,130 (GRCm39)	V726A	probably benign	Het
Tmed7	A	T	18: 46,721,622 (GRCm39)		probably null	Het
Tmem161a	G	A	8: 70,633,435 (GRCm39)	G94S	probably null	Het
Tmem81	T	A	1: 132,435,948 (GRCm39)		probably benign	Het
Trim63	C	A	4: 134,043,702 (GRCm39)	A55E	probably damaging	Het
Trmt1	A	C	8: 85,415,896 (GRCm39)		probably benign	Het
Trpv4	C	T	5: 114,761,687 (GRCm39)	V814M	probably benign	Het
Tshz3	T	C	7: 36,471,079 (GRCm39)	S1023P	possibly damaging	Het
Upk3bl	G	A	5: 136,086,157 (GRCm39)	R31Q	probably benign	Het
Usp40	T	C	1: 87,921,993 (GRCm39)	D290G	probably benign	Het
Vmn1r192	G	T	13: 22,371,764 (GRCm39)	A152E	probably benign	Het
Vmn1r26	T	A	6: 57,985,650 (GRCm39)	T180S	probably benign	Het
Wdr48	G	T	9: 119,738,606 (GRCm39)	V89L	probably benign	Het
Wdr6	G	T	9: 108,450,378 (GRCm39)		probably null	Het
Zfp345	A	G	2: 150,314,275 (GRCm39)	Y421H	probably damaging	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
R0218:Or5e1	UTSW	7	108,354,781 (GRCm39)	nonsense	probably null
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
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'- ATTCACAGATCGCCCTGAGC -3'
(R):5'- AAGCCATAGGTGTAGACTCCTATC -3'

Sequencing Primer
(F):5'- ACAGATCGCCCTGAGCTTCAG -3'
(R):5'- TAGGTGTAGACTCCTATCACCAG -3'

Posted On

2014-06-30