Mutagenetix > Incidental Mutation

Incidental Mutation 'R1880:Or5e1'

209040

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

039901-MU

Accession Numbers

Essential gene?

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

Stock #

R1880 (G1)

Quality Score

225

Status

Not 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: 97.4%
3x: 96.9%
10x: 95.4%
20x: 93.2%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 14,072,615 (GRCm39)	D846G	possibly damaging	Het
Arhgef5	C	A	6: 43,250,022 (GRCm39)	Q258K	possibly damaging	Het
Atp10b	G	T	11: 43,150,259 (GRCm39)	G1319V	probably damaging	Het
Axl	T	C	7: 25,473,973 (GRCm39)	T315A	probably damaging	Het
Brd10	C	A	19: 29,695,523 (GRCm39)	L1323F	probably benign	Het
Btnl2	A	G	17: 34,584,337 (GRCm39)	E420G	possibly damaging	Het
Capn2	A	G	1: 182,316,581 (GRCm39)	W293R	probably damaging	Het
Cd209f	A	G	8: 4,155,464 (GRCm39)		probably null	Het
Cltc	A	G	11: 86,603,457 (GRCm39)	Y790H	probably damaging	Het
Col1a1	A	G	11: 94,841,394 (GRCm39)	K1259R	unknown	Het
Dpysl3	A	T	18: 43,462,939 (GRCm39)		probably null	Het
Dus4l	T	C	12: 31,690,869 (GRCm39)	I261V	probably benign	Het
Ell3	T	C	2: 121,270,792 (GRCm39)	D247G	probably benign	Het
Erg	G	A	16: 95,178,168 (GRCm39)	T246I	probably benign	Het
Eva1c	T	C	16: 90,694,303 (GRCm39)	I196T	possibly damaging	Het
Fbxo43	T	C	15: 36,162,661 (GRCm39)	D182G	probably benign	Het
Frrs1	T	C	3: 116,690,444 (GRCm39)		probably null	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gata4	G	T	14: 63,442,144 (GRCm39)	P20Q	probably damaging	Het
Gmnc	T	C	16: 26,784,361 (GRCm39)	D48G	probably damaging	Het
Gtf2h3	C	T	5: 124,722,336 (GRCm39)	A113V	probably benign	Het
Habp2	A	G	19: 56,306,260 (GRCm39)	I481V	possibly damaging	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Hnrnpul1	A	G	7: 25,432,523 (GRCm39)	V380A	possibly damaging	Het
Hspa2	G	A	12: 76,452,694 (GRCm39)	D463N	possibly damaging	Het
Itga11	A	G	9: 62,585,231 (GRCm39)	D2G	probably benign	Het
Kel	G	A	6: 41,664,479 (GRCm39)	L653F	possibly damaging	Het
Lgr5	T	C	10: 115,288,184 (GRCm39)	Y748C	probably damaging	Het
Lpxn	A	G	19: 12,781,452 (GRCm39)	K57E	probably benign	Het
Ltbp2	G	T	12: 84,876,045 (GRCm39)	H501N	probably benign	Het
Macf1	G	A	4: 123,332,384 (GRCm39)	A2419V	probably damaging	Het
Map3k12	A	G	15: 102,410,499 (GRCm39)		probably null	Het
Megf8	G	A	7: 25,034,285 (GRCm39)	V668I	possibly damaging	Het
Mmp10	T	C	9: 7,505,575 (GRCm39)	S280P	probably benign	Het
Neb	C	A	2: 52,148,743 (GRCm39)	M2601I	probably damaging	Het
Nsd1	T	A	13: 55,361,606 (GRCm39)	N191K	probably damaging	Het
Or2w1	A	T	13: 21,317,802 (GRCm39)	N286Y	probably damaging	Het
Or5w14	C	A	2: 87,541,639 (GRCm39)	G204C	probably damaging	Het
Or6c214	A	G	10: 129,591,290 (GRCm39)	F10L	probably benign	Het
Patj	C	T	4: 98,385,477 (GRCm39)	P364S	probably benign	Het
Pex1	T	C	5: 3,655,770 (GRCm39)	V39A	probably benign	Het
Pira13	C	T	7: 3,827,950 (GRCm39)		probably null	Het
Pkhd1l1	A	T	15: 44,388,638 (GRCm39)	I1332F	probably benign	Het
Polq	T	C	16: 36,906,954 (GRCm39)	V2026A	possibly damaging	Het
Pomt2	G	T	12: 87,182,370 (GRCm39)	A219D	probably damaging	Het
Ppp4r4	T	A	12: 103,571,294 (GRCm39)	Y678N	possibly damaging	Het
Rpf2	T	C	10: 40,109,154 (GRCm39)	D95G	possibly damaging	Het
Sema3c	A	T	5: 17,932,464 (GRCm39)	K656*	probably null	Het
Sema4b	A	T	7: 79,866,540 (GRCm39)	S207C	probably damaging	Het
Snap25	G	A	2: 136,619,305 (GRCm39)	V153M	probably damaging	Het
Snrnp70	T	C	7: 45,026,786 (GRCm39)		probably null	Het
Tas2r144	C	T	6: 42,193,004 (GRCm39)	T248I	probably benign	Het
Trpv4	C	T	5: 114,761,687 (GRCm39)	V814M	probably benign	Het
Usp38	T	C	8: 81,727,695 (GRCm39)	E346G	probably damaging	Het
Vmn1r192	G	T	13: 22,371,764 (GRCm39)	A152E	probably benign	Het
Vmn1r91	A	T	7: 19,835,698 (GRCm39)	S206C	probably damaging	Het
Vps36	T	C	8: 22,703,578 (GRCm39)		probably null	Het
Wdfy3	T	C	5: 102,065,301 (GRCm39)	N1289S	probably benign	Het
Zfp759	T	C	13: 67,287,276 (GRCm39)	C276R	probably damaging	Het
Zkscan17	G	A	11: 59,378,455 (GRCm39)	Q243*	probably null	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
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'- ATGGGATTCACAGATCGCCC -3'
(R):5'- GTGTAGACTCCTATCACCAGTTC -3'

Sequencing Primer
(F):5'- GATTCACAGATCGCCCTGAGC -3'
(R):5'- ATCACCAGTTCCTTGCAGAC -3'

Posted On

2014-06-30