Mutagenetix > Incidental Mutation

Incidental Mutation 'R2031:Or51f1e'

221231

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

040038-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R2031 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102746950-102747906 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102747371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 141 (Y141C)

Ref Sequence

ENSEMBL: ENSMUSP00000100476 (fasta)

Gene Model

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

AlphaFold

E9PXW4

Predicted Effect

probably damaging
Transcript: ENSMUST00000104881
AA Change: Y141C

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100476
Gene: ENSMUSG00000078080
AA Change: Y141C

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

Meta Mutation Damage Score

0.5591

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

98% (55/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	G	T	5: 121,639,118 (GRCm39)	N642K	possibly damaging	Het
Akap11	T	A	14: 78,747,477 (GRCm39)	I1637L	possibly damaging	Het
Aoc1l1	T	C	6: 48,952,789 (GRCm39)	V238A	probably damaging	Het
Arhgap28	G	T	17: 68,203,111 (GRCm39)	T114N	probably damaging	Het
Arid5b	A	G	10: 68,114,518 (GRCm39)		probably null	Het
Atp10a	T	A	7: 58,477,678 (GRCm39)	C1292*	probably null	Het
Casp4	A	G	9: 5,321,401 (GRCm39)	S51G	probably benign	Het
Cast	T	C	13: 74,946,771 (GRCm39)		probably null	Het
Ccdc87	T	C	19: 4,891,715 (GRCm39)	F736L	probably damaging	Het
Cdon	T	C	9: 35,415,370 (GRCm39)	S1203P	probably damaging	Het
Cep290	G	A	10: 100,348,262 (GRCm39)		probably null	Het
Cep85	A	G	4: 133,859,761 (GRCm39)	V634A	probably benign	Het
Cpeb3	C	T	19: 37,022,079 (GRCm39)	R589H	probably damaging	Het
Crebrf	T	G	17: 26,961,895 (GRCm39)	S331A	probably damaging	Het
Cul5	A	G	9: 53,578,480 (GRCm39)	V36A	probably benign	Het
Dock2	T	A	11: 34,618,297 (GRCm39)		probably benign	Het
Dstyk	G	A	1: 132,380,929 (GRCm39)	A475T	probably damaging	Het
Enpp6	C	A	8: 47,506,649 (GRCm39)	P151Q	probably damaging	Het
Fan1	A	G	7: 64,004,172 (GRCm39)	Y765H	probably damaging	Het
Hsfy2	A	T	1: 56,675,476 (GRCm39)	S354T	probably benign	Het
Ifi204	A	C	1: 173,580,343 (GRCm39)	F389C	probably damaging	Het
Ikbip	T	C	10: 90,932,474 (GRCm39)	Y373H	probably benign	Het
Kbtbd11	C	A	8: 15,078,021 (GRCm39)	P207T	possibly damaging	Het
Krt73	A	C	15: 101,707,199 (GRCm39)		probably benign	Het
Mfsd6	T	A	1: 52,748,013 (GRCm39)	Q284L	probably benign	Het
Mmp1b	T	A	9: 7,368,607 (GRCm39)	D415V	possibly damaging	Het
Mrc1	A	T	2: 14,326,584 (GRCm39)	T1161S	probably damaging	Het
Ms4a18	A	G	19: 10,991,014 (GRCm39)	S27P	probably benign	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Mycbp2	G	T	14: 103,426,028 (GRCm39)	R2366S	probably damaging	Het
Nfkbia	A	G	12: 55,537,937 (GRCm39)	L172P	probably damaging	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Or1d2	A	G	11: 74,255,777 (GRCm39)	Y94C	probably damaging	Het
Or2ag15	A	G	7: 106,341,105 (GRCm39)	F12S	probably damaging	Het
Or4c107	A	G	2: 88,789,643 (GRCm39)	T278A	probably benign	Het
Or5an10	A	T	19: 12,275,740 (GRCm39)	V252D	probably damaging	Het
Or5b112	T	C	19: 13,319,770 (GRCm39)	L216S	probably benign	Het
Parvb	A	T	15: 84,167,036 (GRCm39)	Y117F	probably benign	Het
Plch2	A	G	4: 155,127,484 (GRCm39)		probably benign	Het
Plxnb2	A	T	15: 89,047,013 (GRCm39)	C769*	probably null	Het
Plxnc1	G	T	10: 94,779,529 (GRCm39)	D304E	probably benign	Het
Prkg2	T	C	5: 99,172,310 (GRCm39)	D135G	possibly damaging	Het
Ptprb	A	G	10: 116,153,448 (GRCm39)	D635G	probably benign	Het
Rapgef6	T	G	11: 54,443,684 (GRCm39)	V89G	probably benign	Het
Ror2	T	A	13: 53,271,366 (GRCm39)	T330S	probably benign	Het
Ros1	A	G	10: 51,943,164 (GRCm39)	V2050A	possibly damaging	Het
Serpinb6e	T	C	13: 34,021,733 (GRCm39)		probably benign	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Smarca4	T	C	9: 21,597,358 (GRCm39)	V1371A	possibly damaging	Het
Syvn1	G	A	19: 6,100,560 (GRCm39)	R317H	probably damaging	Het
Tdo2	T	A	3: 81,876,812 (GRCm39)	D139V	probably damaging	Het
Tmem130	A	G	5: 144,689,236 (GRCm39)	V135A	possibly damaging	Het
Tpr	A	T	1: 150,317,870 (GRCm39)	Q2126L	probably benign	Het
Txlnb	A	G	10: 17,706,062 (GRCm39)	M324V	possibly damaging	Het
Ubxn10	A	G	4: 138,448,574 (GRCm39)	M34T	possibly damaging	Het
Vmn2r95	T	C	17: 18,659,717 (GRCm39)	W154R	possibly 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
R1486:Or51f1e	UTSW	7	102,747,637 (GRCm39)	missense	probably damaging	1.00
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'- AGCCTGCATGAACCTATGTAC -3'
(R):5'- CCGAGTGTCTGAACATGCTAAC -3'

Sequencing Primer
(F):5'- TGCCACTGACCTGGGTTTGAC -3'
(R):5'- GTGTCTGAACATGCTAACTTAATCAC -3'

Posted On

2014-08-25