Mutagenetix > Incidental Mutation

Incidental Mutation 'R5841:Or51f1e'

450438

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

044061-MU

Accession Numbers

Essential gene?

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

Stock #

R5841 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102746950-102747906 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102747161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 71 (F71S)

Ref Sequence

ENSEMBL: ENSMUSP00000100476 (fasta)

Gene Model

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

AlphaFold

E9PXW4

Predicted Effect

probably damaging
Transcript: ENSMUST00000104881
AA Change: F71S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100476
Gene: ENSMUSG00000078080
AA Change: F71S

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

0.3992

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (67/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	T	1: 75,150,994 (GRCm39)	F565L	possibly damaging	Het
Abhd6	T	A	14: 8,049,596 (GRCm38)	V188D	probably benign	Het
Bbs12	T	G	3: 37,373,670 (GRCm39)	N39K	probably benign	Het
Bend5	A	G	4: 111,290,667 (GRCm39)	Y221C	probably damaging	Het
Brd8	A	G	18: 34,738,576 (GRCm39)	S683P	probably damaging	Het
Caskin1	A	G	17: 24,715,183 (GRCm39)	D79G	probably damaging	Het
Cdyl	T	C	13: 36,056,544 (GRCm39)	L509P	probably damaging	Het
Cenpf	G	T	1: 189,389,641 (GRCm39)	T1397N	possibly damaging	Het
Ckap5	T	A	2: 91,431,027 (GRCm39)	M1479K	probably benign	Het
Cpsf2	T	C	12: 101,951,497 (GRCm39)	S145P	probably damaging	Het
Cyp4a12a	A	T	4: 115,183,899 (GRCm39)	H235L	probably benign	Het
Cyp7b1	A	T	3: 18,151,670 (GRCm39)	F181Y	probably damaging	Het
Dennd5b	T	C	6: 148,946,253 (GRCm39)	T453A	probably benign	Het
Dlgap3	A	G	4: 127,089,193 (GRCm39)	D263G	probably damaging	Het
Dnah3	TTCCTC	TTC	7: 119,550,244 (GRCm39)		probably benign	Het
Dync2li1	G	A	17: 84,940,990 (GRCm39)	G69R	probably damaging	Het
Edc3	T	C	9: 57,651,885 (GRCm39)	V331A	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ganc	C	T	2: 120,242,020 (GRCm39)	T66I	possibly damaging	Het
Gm11595	C	A	11: 99,663,143 (GRCm39)	C179F	unknown	Het
Gnptg	A	G	17: 25,454,391 (GRCm39)	S159P	probably damaging	Het
Gsdmc2	C	T	15: 63,698,059 (GRCm39)	V349I	probably benign	Het
Hydin	T	C	8: 111,259,846 (GRCm39)	I2606T	possibly damaging	Het
Ino80d	A	G	1: 63,097,999 (GRCm39)	S632P	probably damaging	Het
Kcnn2	G	A	18: 45,692,463 (GRCm39)	R13H	probably benign	Het
Klb	A	T	5: 65,536,667 (GRCm39)	K666*	probably null	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Kpna7	T	C	5: 144,930,766 (GRCm39)	I360V	possibly damaging	Het
Lmbrd2	A	G	15: 9,182,657 (GRCm39)	K576E	possibly damaging	Het
Lrp2	T	A	2: 69,310,497 (GRCm39)	Y2692F	probably benign	Het
Meis2	T	A	2: 115,889,145 (GRCm39)	E202D	probably benign	Het
Mgat4c	A	T	10: 102,224,826 (GRCm39)	T347S	probably damaging	Het
Mmp12	G	A	9: 7,347,501 (GRCm39)	C26Y	possibly damaging	Het
Mrpl24	G	A	3: 87,830,292 (GRCm39)	R145Q	probably damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Mycbpap	T	A	11: 94,396,436 (GRCm39)	R135W	probably damaging	Het
Myo1g	T	A	11: 6,457,000 (GRCm39)	Y942F	probably benign	Het
Myrf	T	C	19: 10,200,911 (GRCm39)	K52R	probably null	Het
Ncf2	A	T	1: 152,697,269 (GRCm39)		silent	Het
Nherf2	A	T	17: 24,863,851 (GRCm39)	M8K	probably benign	Het
Otx1	T	C	11: 21,948,594 (GRCm39)		probably benign	Het
Pcnx1	T	A	12: 81,965,429 (GRCm39)	V532D	possibly damaging	Het
Pik3r5	T	C	11: 68,383,096 (GRCm39)	L305P	probably damaging	Het
Pira13	T	A	7: 3,825,898 (GRCm39)	R324*	probably null	Het
Polr3a	A	T	14: 24,500,766 (GRCm39)	C1341S	probably benign	Het
Ppp1r3a	T	C	6: 14,718,983 (GRCm39)	T644A	probably benign	Het
Pramel22	A	G	4: 143,382,109 (GRCm39)	S196P	possibly damaging	Het
Ptbp1	A	G	10: 79,695,766 (GRCm39)	D289G	probably benign	Het
Pwp2	A	G	10: 78,007,952 (GRCm39)	F868L	probably benign	Het
Rgs8	A	G	1: 153,568,574 (GRCm39)	E153G	probably damaging	Het
Rhbdf2	G	A	11: 116,493,180 (GRCm39)		probably benign	Het
Sbf1	T	C	15: 89,192,271 (GRCm39)	H78R	probably damaging	Het
Sdr16c6	C	T	4: 4,062,728 (GRCm39)	A197T	possibly damaging	Het
Slc36a3	A	T	11: 55,016,547 (GRCm39)	Y349*	probably null	Het
Slc38a9	T	C	13: 112,831,856 (GRCm39)	L202P	possibly damaging	Het
Slc40a1	A	T	1: 45,951,509 (GRCm39)	M216K	probably damaging	Het
Srebf1	T	A	11: 60,094,410 (GRCm39)	Q568H	possibly damaging	Het
Srp54b	A	G	12: 55,299,614 (GRCm39)	N315S	probably benign	Het
Strc	A	G	2: 121,196,358 (GRCm39)	F1557L	probably benign	Het
Susd3	C	A	13: 49,392,202 (GRCm39)		probably benign	Het
Usp54	G	A	14: 20,600,351 (GRCm39)	T1462I	probably benign	Het
Vmn1r11	T	A	6: 57,114,787 (GRCm39)	N150K	probably damaging	Het
Vwa8	C	T	14: 79,231,958 (GRCm39)	H606Y	probably benign	Het
Zmym6	A	G	4: 126,994,463 (GRCm39)	I206V	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
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
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'- GCAAATGCTACAAATGCAGGAC -3'
(R):5'- GTTTGCAGATCGCTACATAACG -3'

Sequencing Primer
(F):5'- GAATTCCTAAGCAACTTCACATCG -3'
(R):5'- GCAGATCGCTACATAACGATCAAAAG -3'

Posted On

2016-12-20