Mutagenetix > Incidental Mutation

Incidental Mutation 'R1486:Or51f1e'

163467

Institutional Source

Beutler Lab

Gene Symbol

Or51f1e

Ensembl Gene

ENSMUSG00000078080

Gene Name

olfactory receptor family 51 subfamily F member 1E

Synonyms

Olfr585, GA_x6K02T2PBJ9-5809085-5810035, MOR14-4

MMRRC Submission

039539-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R1486 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102746950-102747906 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102747637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 230 (I230F)

Ref Sequence

ENSEMBL: ENSMUSP00000100476 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000104881]

AlphaFold

E9PXW4

Predicted Effect

probably damaging
Transcript: ENSMUST00000104881
AA Change: I230F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000100476
Gene: ENSMUSG00000078080
AA Change: I230F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	40	318	1.3e-109	PFAM
Pfam:7TM_GPCR_Srsx	45	315	5.9e-6	PFAM
Pfam:7tm_1	50	300	7.9e-23	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.1%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730015C16Rik	A	G	4: 108,705,143 (GRCm39)	E19G	probably benign	Het
A730018C14Rik	T	C	12: 112,382,129 (GRCm39)		noncoding transcript	Het
Acrbp	T	A	6: 125,027,585 (GRCm39)	Y78N	probably damaging	Het
Adamtsl4	T	C	3: 95,589,166 (GRCm39)	S422G	probably benign	Het
Apba2	T	C	7: 64,386,696 (GRCm39)	V429A	probably damaging	Het
Atf6	A	G	1: 170,622,260 (GRCm39)	C454R	probably damaging	Het
Bhlhe40	T	C	6: 108,641,890 (GRCm39)	I278T	probably damaging	Het
Birc6	G	T	17: 74,946,815 (GRCm39)	V2845L	probably damaging	Het
Card11	T	C	5: 140,862,274 (GRCm39)	I1008V	probably benign	Het
Catsperg1	C	A	7: 28,884,920 (GRCm39)	K900N	probably damaging	Het
Cep20	A	G	16: 14,118,004 (GRCm39)	V172A	probably benign	Het
Chek2	T	G	5: 110,989,093 (GRCm39)		probably benign	Het
Dnaaf9	A	G	2: 130,579,338 (GRCm39)	L633P	probably damaging	Het
Dnah9	A	T	11: 65,725,098 (GRCm39)	S4352T	probably damaging	Het
Eif3c	C	T	7: 126,163,893 (GRCm39)	R50Q	probably damaging	Het
Eml6	A	C	11: 29,755,114 (GRCm39)	I887S	possibly damaging	Het
Gipc1	C	T	8: 84,387,808 (GRCm39)	Q63*	probably null	Het
Grm4	A	G	17: 27,653,691 (GRCm39)	L706P	probably damaging	Het
Irak3	T	C	10: 119,978,966 (GRCm39)	D495G	probably damaging	Het
Itga9	T	G	9: 118,455,518 (GRCm39)	V64G	probably damaging	Het
Iws1	T	C	18: 32,230,309 (GRCm39)	I759T	probably damaging	Het
Kdm3b	T	A	18: 34,967,357 (GRCm39)	F1721I	probably damaging	Het
Lrrc8c	T	A	5: 105,755,395 (GRCm39)	V390E	probably damaging	Het
Mki67	G	A	7: 135,301,449 (GRCm39)	T1195I	probably benign	Het
Mphosph8	C	T	14: 56,926,496 (GRCm39)	T646I	probably damaging	Het
Ncdn	A	T	4: 126,642,391 (GRCm39)	V422D	probably damaging	Het
Nrg1	T	C	8: 32,308,372 (GRCm39)	E548G	probably damaging	Het
Nt5el	T	C	13: 105,246,291 (GRCm39)	V284A	probably benign	Het
Nup37	T	C	10: 87,984,116 (GRCm39)	Y11H	probably damaging	Het
Or1ad1	G	A	11: 50,875,608 (GRCm39)	V27I	probably benign	Het
Or52s19	T	A	7: 103,008,201 (GRCm39)	M67L	possibly damaging	Het
Or8j3c	T	A	2: 86,253,825 (GRCm39)	H65L	probably damaging	Het
Pcgf1	T	G	6: 83,056,107 (GRCm39)	S70R	probably damaging	Het
Potefam1	T	G	2: 111,030,703 (GRCm39)	Q402P	possibly damaging	Het
Prps1l3	C	T	12: 57,285,573 (GRCm39)	A121V	probably benign	Het
Rasal1	T	C	5: 120,792,917 (GRCm39)	Y57H	probably damaging	Het
Rbm12b2	A	G	4: 12,094,841 (GRCm39)	R567G	probably benign	Het
Rep15	T	A	6: 146,934,577 (GRCm39)	F139I	probably damaging	Het
Ros1	T	C	10: 52,048,954 (GRCm39)	Y92C	probably damaging	Het
Sin3b	A	G	8: 73,477,141 (GRCm39)	T803A	probably benign	Het
Skint11	G	A	4: 114,052,015 (GRCm39)		probably null	Het
Sobp	T	G	10: 42,898,518 (GRCm39)	S356R	probably benign	Het
Spats2l	T	C	1: 57,939,970 (GRCm39)	I228T	probably damaging	Het
Sqor	G	A	2: 122,649,565 (GRCm39)		probably null	Het
Stox1	T	C	10: 62,500,415 (GRCm39)	D715G	probably benign	Het
Tln2	C	A	9: 67,219,121 (GRCm39)	G275W	probably damaging	Het
Tmc5	C	T	7: 118,272,655 (GRCm39)	P942S	probably benign	Het
Tor4a	A	T	2: 25,084,691 (GRCm39)	I404N	possibly damaging	Het
Ttc3	G	A	16: 94,248,988 (GRCm39)	R1162Q	probably damaging	Het
Zfp451	T	C	1: 33,816,808 (GRCm39)	K164E	probably damaging	Het

Other mutations in Or51f1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01022:Or51f1e	APN	7	102,747,077 (GRCm39)	missense	probably damaging	1.00
IGL02866:Or51f1e	APN	7	102,747,590 (GRCm39)	missense	probably damaging	0.99
FR4548:Or51f1e	UTSW	7	102,747,516 (GRCm39)	nonsense	probably null
FR4976:Or51f1e	UTSW	7	102,747,516 (GRCm39)	small insertion	probably benign
R0893:Or51f1e	UTSW	7	102,747,641 (GRCm39)	missense	probably benign	0.01
R0926:Or51f1e	UTSW	7	102,747,092 (GRCm39)	missense	probably damaging	1.00
R2031:Or51f1e	UTSW	7	102,747,371 (GRCm39)	missense	probably damaging	0.98
R3852:Or51f1e	UTSW	7	102,747,391 (GRCm39)	missense	probably damaging	0.97
R4849:Or51f1e	UTSW	7	102,747,526 (GRCm39)	missense	possibly damaging	0.95
R5241:Or51f1e	UTSW	7	102,747,524 (GRCm39)	missense	probably benign	0.36
R5668:Or51f1e	UTSW	7	102,747,103 (GRCm39)	missense	probably benign	0.42
R5841:Or51f1e	UTSW	7	102,747,161 (GRCm39)	missense	probably damaging	1.00
R6902:Or51f1e	UTSW	7	102,747,562 (GRCm39)	missense	probably benign	0.12
R7943:Or51f1e	UTSW	7	102,747,153 (GRCm39)	missense	probably damaging	0.98
R8265:Or51f1e	UTSW	7	102,747,304 (GRCm39)	missense	probably benign	0.00
R8969:Or51f1e	UTSW	7	102,747,251 (GRCm39)	missense	probably damaging	0.99
R9345:Or51f1e	UTSW	7	102,747,713 (GRCm39)	missense	possibly damaging	0.93
R9376:Or51f1e	UTSW	7	102,746,971 (GRCm39)	missense	probably benign	0.01
R9702:Or51f1e	UTSW	7	102,747,343 (GRCm39)	missense	probably damaging	0.99
RF003:Or51f1e	UTSW	7	102,747,513 (GRCm39)	nonsense	probably null
RF003:Or51f1e	UTSW	7	102,747,512 (GRCm39)
RF004:Or51f1e	UTSW	7	102,747,516 (GRCm39)	nonsense	probably null
RF004:Or51f1e	UTSW	7	102,747,515 (GRCm39)	small insertion	probably benign
RF004:Or51f1e	UTSW	7	102,747,512 (GRCm39)

Predicted Primers

PCR Primer
(F):5'- CTCTGGCAACAGCATGATCCTCTTC -3'
(R):5'- TGTATGGACTACCTTGGGCACTGAC -3'

Sequencing Primer
(F):5'- GTAGCGATCTGCAAACCTCTTAG -3'
(R):5'- CTGACCGACCATAGCGATG -3'

Posted On

2014-03-28