Mutagenetix > Incidental Mutation

Incidental Mutation 'R2083:Or4f59'

230129

Institutional Source

Beutler Lab

Gene Symbol

Or4f59

Ensembl Gene

ENSMUSG00000074947

Gene Name

olfactory receptor family 4 subfamily F member 59

Synonyms

GA_x6K02T2Q125-73090482-73089529, MOR245-20, Olfr1312

MMRRC Submission

040088-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R2083 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111872422-111873375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 111872898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 160 (V160I)

Ref Sequence

ENSEMBL: ENSMUSP00000149430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099600] [ENSMUST00000213582] [ENSMUST00000213961] [ENSMUST00000215531]

AlphaFold

Q8VF10

Predicted Effect

probably benign
Transcript: ENSMUST00000099600
AA Change: V160I

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000097195
Gene: ENSMUSG00000074947
AA Change: V160I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	27	302	1.6e-43	PFAM
Pfam:7tm_1	38	284	1.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213582
AA Change: V160I

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000213961
AA Change: V160I

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000215531
AA Change: V160I

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	A	5: 146,121,681 (GRCm39)	M73L	possibly damaging	Het
AA986860	A	T	1: 130,668,806 (GRCm39)	I58F	probably damaging	Het
Acsl3	A	T	1: 78,677,528 (GRCm39)	K507N	probably damaging	Het
Adcy3	T	C	12: 4,223,512 (GRCm39)	Y245H	probably damaging	Het
Adgra1	T	C	7: 139,455,547 (GRCm39)	S392P	probably damaging	Het
Ahnak	C	T	19: 8,988,921 (GRCm39)	P3402S	probably damaging	Het
Ambra1	T	A	2: 91,596,945 (GRCm39)	I12N	possibly damaging	Het
Atp10b	A	G	11: 43,103,250 (GRCm39)	T545A	probably benign	Het
Atxn2	G	T	5: 121,922,069 (GRCm39)	A638S	probably benign	Het
Cd109	T	C	9: 78,574,575 (GRCm39)	S520P	probably damaging	Het
Col6a3	T	C	1: 90,709,733 (GRCm39)	D1821G	unknown	Het
Cyp4a10	T	C	4: 115,382,505 (GRCm39)	V265A	possibly damaging	Het
Dmrtb1	C	T	4: 107,540,809 (GRCm39)	R184Q	possibly damaging	Het
Dnah7b	A	T	1: 46,280,227 (GRCm39)	I2719F	possibly damaging	Het
En2	T	C	5: 28,372,071 (GRCm39)	S183P	probably damaging	Het
Etfb	A	G	7: 43,105,924 (GRCm39)	T101A	probably benign	Het
Etl4	T	A	2: 20,748,360 (GRCm39)	S364T	probably damaging	Het
Gm17728	C	A	17: 9,641,121 (GRCm39)	S77Y	possibly damaging	Het
Golga4	A	G	9: 118,361,658 (GRCm39)	E221G	probably damaging	Het
Gpr37	T	C	6: 25,688,416 (GRCm39)	N227S	possibly damaging	Het
Insyn2b	A	G	11: 34,352,141 (GRCm39)	D61G	probably benign	Het
Kctd1	A	T	18: 15,107,112 (GRCm39)	N784K	possibly damaging	Het
Klhl22	A	G	16: 17,594,389 (GRCm39)	T173A	probably benign	Het
Ly6e	T	A	15: 74,830,168 (GRCm39)	C41S	probably damaging	Het
Mapkbp1	T	C	2: 119,845,963 (GRCm39)	L444P	possibly damaging	Het
Mkx	A	T	18: 6,992,855 (GRCm39)	I143K	probably damaging	Het
Mlh3	A	G	12: 85,315,815 (GRCm39)	F124L	probably benign	Het
Nlrp1a	A	T	11: 71,015,046 (GRCm39)	L68H	possibly damaging	Het
Obscn	A	C	11: 58,964,457 (GRCm39)	Y726*	probably null	Het
Or8d1	T	G	9: 38,766,637 (GRCm39)	V93G	probably benign	Het
Peak1	G	A	9: 56,166,233 (GRCm39)	S565L	probably damaging	Het
Pter	T	A	2: 12,983,247 (GRCm39)	L84Q	probably damaging	Het
Ptpn4	A	G	1: 119,615,489 (GRCm39)	L555P	possibly damaging	Het
Rpp40	A	T	13: 36,082,975 (GRCm39)	M171K	probably benign	Het
Sacs	A	G	14: 61,443,955 (GRCm39)	I2000M	possibly damaging	Het
Scn5a	T	C	9: 119,321,189 (GRCm39)	I1458V	probably benign	Het
Slc38a4	T	C	15: 96,906,874 (GRCm39)	D288G	probably benign	Het
Slc8a2	T	G	7: 15,868,440 (GRCm39)	V224G	probably damaging	Het
Sptbn4	T	C	7: 27,127,681 (GRCm39)	E173G	probably benign	Het
Tas1r1	T	A	4: 152,112,848 (GRCm39)	H735L	probably benign	Het
Trps1	G	T	15: 50,685,701 (GRCm39)	Q155K	probably damaging	Het
Tspyl5	T	C	15: 33,686,892 (GRCm39)	H351R	probably damaging	Het
Ttf2	A	T	3: 100,876,817 (GRCm39)	D21E	probably benign	Het
Ttll7	A	G	3: 146,635,859 (GRCm39)	R398G	possibly damaging	Het
Tubgcp6	A	T	15: 89,006,579 (GRCm39)	Y148N	probably damaging	Het
Vmn1r8	T	A	6: 57,013,325 (GRCm39)	H125Q	probably benign	Het
Zfhx4	A	G	3: 5,468,223 (GRCm39)	T2794A	possibly damaging	Het
Zfp27	T	C	7: 29,594,208 (GRCm39)	I586V	probably benign	Het
Zfyve16	T	C	13: 92,660,770 (GRCm39)	D13G	probably damaging	Het

Other mutations in Or4f59

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Or4f59	APN	2	111,872,716 (GRCm39)	missense	probably benign	0.00
IGL01650:Or4f59	APN	2	111,872,720 (GRCm39)	missense	possibly damaging	0.84
IGL02390:Or4f59	APN	2	111,873,056 (GRCm39)	missense	possibly damaging	0.84
IGL03392:Or4f59	APN	2	111,873,321 (GRCm39)	missense	probably benign	0.00
R1170:Or4f59	UTSW	2	111,872,560 (GRCm39)	missense	probably benign	0.45
R1620:Or4f59	UTSW	2	111,872,591 (GRCm39)	missense	probably benign	0.07
R3605:Or4f59	UTSW	2	111,873,168 (GRCm39)	missense	probably benign
R4182:Or4f59	UTSW	2	111,872,873 (GRCm39)	missense	probably damaging	1.00
R5739:Or4f59	UTSW	2	111,873,128 (GRCm39)	missense	probably damaging	0.99
R6321:Or4f59	UTSW	2	111,873,113 (GRCm39)	missense	probably benign	0.07
R7231:Or4f59	UTSW	2	111,872,711 (GRCm39)	missense	probably damaging	1.00
R7365:Or4f59	UTSW	2	111,873,359 (GRCm39)	missense	possibly damaging	0.95
R7673:Or4f59	UTSW	2	111,872,925 (GRCm39)	missense	probably benign
R7978:Or4f59	UTSW	2	111,872,523 (GRCm39)	missense	possibly damaging	0.92
R8112:Or4f59	UTSW	2	111,872,982 (GRCm39)	missense	probably damaging	1.00
R8167:Or4f59	UTSW	2	111,872,789 (GRCm39)	missense	possibly damaging	0.91
R8356:Or4f59	UTSW	2	111,872,943 (GRCm39)	missense	probably damaging	0.99
R8799:Or4f59	UTSW	2	111,872,528 (GRCm39)	missense	probably damaging	1.00
R9186:Or4f59	UTSW	2	111,873,095 (GRCm39)	missense	probably damaging	1.00
R9658:Or4f59	UTSW	2	111,872,823 (GRCm39)	missense	probably damaging	1.00
Z1177:Or4f59	UTSW	2	111,873,000 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTGTGGACAGAGCCTTGG -3'
(R):5'- TCCCAAGATGATTTGTGACCTG -3'

Sequencing Primer
(F):5'- ACAGAGCCTTGGAGGAGCC -3'
(R):5'- CCCAAGATGATTTGTGACCTGTTCAG -3'

Posted On

2014-09-18