Mutagenetix > Incidental Mutation

Incidental Mutation 'R0893:Or51f1e'

83584

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

039056-MU

Accession Numbers

Essential gene?

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

Stock #

R0893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102746950-102747906 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 102747641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 231 (R231L)

Ref Sequence

ENSEMBL: ENSMUSP00000100476 (fasta)

Gene Model

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

AlphaFold

E9PXW4

Predicted Effect

probably benign
Transcript: ENSMUST00000104881
AA Change: R231L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000100476
Gene: ENSMUSG00000078080
AA Change: R231L

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

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 95.1%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,266,082 (GRCm39)		probably benign	Het
Adnp	A	T	2: 168,025,647 (GRCm39)	F549L	possibly damaging	Het
Agl	A	G	3: 116,546,935 (GRCm39)	I1305T	probably benign	Het
Aldh8a1	T	A	10: 21,267,593 (GRCm39)	M326K	probably benign	Het
Amdhd1	A	T	10: 93,363,513 (GRCm39)	M295K	probably damaging	Het
Arhgef4	T	A	1: 34,846,191 (GRCm39)	C324S	probably damaging	Het
Car8	A	T	4: 8,238,119 (GRCm39)		probably null	Het
Cc2d1a	T	C	8: 84,867,468 (GRCm39)		probably benign	Het
Cd81	G	A	7: 142,616,242 (GRCm39)	V27M	possibly damaging	Het
Ces1b	A	T	8: 93,806,056 (GRCm39)	S62T	probably benign	Het
Cfb	A	G	17: 35,077,031 (GRCm39)	S30P	probably damaging	Het
Cmtm3	A	G	8: 105,070,543 (GRCm39)	M101V	possibly damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Ddb1	C	T	19: 10,590,280 (GRCm39)	S269L	probably benign	Het
Ddx25	G	A	9: 35,465,686 (GRCm39)	Q143*	probably null	Het
Dis3l2	T	A	1: 86,971,928 (GRCm39)		probably null	Het
Dlgap4	G	T	2: 156,587,898 (GRCm39)	E598*	probably null	Het
Dus1l	C	T	11: 120,680,262 (GRCm39)	G471D	possibly damaging	Het
Elp4	C	A	2: 105,727,290 (GRCm39)		probably benign	Het
Eya3	A	G	4: 132,417,097 (GRCm39)	N194S	probably benign	Het
Golgb1	G	T	16: 36,732,639 (GRCm39)	V629L	possibly damaging	Het
Hars2	G	A	18: 36,920,648 (GRCm39)	A164T	possibly damaging	Het
Hexb	T	A	13: 97,322,135 (GRCm39)	I217L	probably benign	Het
Hgh1	A	G	15: 76,253,848 (GRCm39)		probably null	Het
Hsd3b3	A	T	3: 98,649,757 (GRCm39)		probably null	Het
Ighg2c	T	A	12: 113,251,053 (GRCm39)	N321Y	unknown	Het
Il5	A	G	11: 53,611,763 (GRCm39)	T34A	probably benign	Het
Jph1	C	A	1: 17,074,507 (GRCm39)	E504*	probably null	Het
Kif2b	G	T	11: 91,466,420 (GRCm39)	T621K	probably benign	Het
Kmt2c	A	T	5: 25,556,268 (GRCm39)		probably benign	Het
Leprotl1	A	G	8: 34,606,006 (GRCm39)		probably null	Het
Lpar3	C	T	3: 145,946,348 (GRCm39)	R9C	possibly damaging	Het
Map1a	A	G	2: 121,131,014 (GRCm39)	E372G	probably damaging	Het
Map2	C	A	1: 66,419,927 (GRCm39)	T86K	probably damaging	Het
Map7	A	G	10: 20,149,629 (GRCm39)		probably null	Het
Mdn1	T	C	4: 32,701,713 (GRCm39)	V1482A	probably benign	Het
Mks1	G	A	11: 87,747,777 (GRCm39)		probably benign	Het
Morf4l1	T	G	9: 89,984,403 (GRCm39)	K102N	probably damaging	Het
Mroh1	T	A	15: 76,293,138 (GRCm39)	V304D	possibly damaging	Het
Mtg1	G	A	7: 139,729,665 (GRCm39)	V252M	probably damaging	Het
Myh13	A	T	11: 67,225,427 (GRCm39)	D264V	probably damaging	Het
Myh2	A	G	11: 67,077,334 (GRCm39)	Y823C	possibly damaging	Het
Myoz1	A	T	14: 20,701,252 (GRCm39)	S112R	probably benign	Het
Ncapd2	A	G	6: 125,150,445 (GRCm39)	V860A	probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Npffr1	T	C	10: 61,450,010 (GRCm39)	F95L	possibly damaging	Het
Or8b9	T	C	9: 37,766,492 (GRCm39)	I126T	probably damaging	Het
Orc4	A	C	2: 48,822,622 (GRCm39)		probably benign	Het
P3h3	A	C	6: 124,822,476 (GRCm39)	I565R	probably damaging	Het
Pak4	T	C	7: 28,259,202 (GRCm39)	D552G	probably benign	Het
Pcdhb4	G	T	18: 37,442,423 (GRCm39)		probably null	Het
Pdcd4	G	T	19: 53,917,525 (GRCm39)	R454L	probably damaging	Het
Phf8-ps	T	C	17: 33,284,263 (GRCm39)	I846M	probably benign	Het
Pkd1l2	A	G	8: 117,771,231 (GRCm39)	I1116T	probably damaging	Het
Plcb2	A	G	2: 118,555,586 (GRCm39)		probably benign	Het
Pmpca	T	C	2: 26,283,230 (GRCm39)		probably benign	Het
Pnpla7	T	A	2: 24,887,252 (GRCm39)	I32N	probably damaging	Het
Prpf8	A	G	11: 75,384,775 (GRCm39)	K718E	probably damaging	Het
Racgap1	C	T	15: 99,524,411 (GRCm39)	A359T	probably benign	Het
Rgs3	G	A	4: 62,523,798 (GRCm39)		probably null	Het
Rhpn1	A	G	15: 75,583,503 (GRCm39)	E356G	probably damaging	Het
Rps6ka5	T	C	12: 100,540,697 (GRCm39)	H488R	possibly damaging	Het
Scn11a	A	G	9: 119,632,396 (GRCm39)		probably null	Het
Sema4f	A	T	6: 82,912,948 (GRCm39)		probably benign	Het
Serpina1f	A	G	12: 103,660,094 (GRCm39)	S63P	probably damaging	Het
Slc9a3	T	C	13: 74,307,365 (GRCm39)	W386R	probably damaging	Het
Slc9b1	A	C	3: 135,100,651 (GRCm39)	L465F	probably benign	Het
Smc5	A	G	19: 23,241,017 (GRCm39)	V165A	possibly damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tinagl1	G	T	4: 130,067,816 (GRCm39)	D59E	probably damaging	Het
Tns3	A	G	11: 8,443,302 (GRCm39)	Y354H	probably damaging	Het
Trappc9	C	T	15: 72,461,956 (GRCm39)	G1103D	probably damaging	Het
Unc79	A	T	12: 102,957,687 (GRCm39)	D34V	probably damaging	Het
Unc80	T	C	1: 66,560,645 (GRCm39)	L791P	probably damaging	Het
Unc93a2	A	G	17: 7,641,926 (GRCm39)	L174P	probably damaging	Het
Xpo7	G	T	14: 70,903,537 (GRCm39)		probably benign	Het
Zbtb1	T	A	12: 76,432,113 (GRCm39)	I33N	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
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
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'- TATGGACTACCTTGGGCACTGACC -3'

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

Posted On

2013-11-08