Mutagenetix > Incidental Mutation

Incidental Mutation 'R6143:Or5p59'

488673

Institutional Source

Beutler Lab

Gene Symbol

Or5p59

Ensembl Gene

ENSMUSG00000078118

Gene Name

olfactory receptor family 5 subfamily P member 59

Synonyms

Olfr483, MOR204-12, GA_x6K02T2PBJ9-10432095-10433042

MMRRC Submission

044290-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R6143 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107702518-107703465 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107703335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 273 (D273G)

Ref Sequence

ENSEMBL: ENSMUSP00000150898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000104917] [ENSMUST00000215159]

AlphaFold

Q8VG05

Predicted Effect

probably damaging
Transcript: ENSMUST00000104917
AA Change: D273G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100517
Gene: ENSMUSG00000078118
AA Change: D273G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	312	1.6e-51	PFAM
Pfam:7tm_1	44	294	2.2e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209740

Predicted Effect

probably damaging
Transcript: ENSMUST00000215159
AA Change: D273G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

98% (62/63)

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
A730061H03Rik	A	G	14: 55,797,736 (GRCm39)		probably benign	Het
Abcd2	A	T	15: 91,075,150 (GRCm39)	V221E	possibly damaging	Het
Arhgap39	T	A	15: 76,614,606 (GRCm39)	K853*	probably null	Het
Art2a	T	C	7: 101,204,430 (GRCm39)	D36G	possibly damaging	Het
Atp13a1	C	T	8: 70,258,010 (GRCm39)	P922S	probably benign	Het
Brwd1	C	T	16: 95,804,156 (GRCm39)	G2005R	probably benign	Het
Bzw2	A	T	12: 36,170,725 (GRCm39)	M133K	probably benign	Het
Cacna1s	T	G	1: 136,004,496 (GRCm39)	S346A	probably damaging	Het
Cebpb	C	A	2: 167,531,220 (GRCm39)	D93E	probably benign	Het
Cep162	C	A	9: 87,094,904 (GRCm39)		probably null	Het
Col9a2	A	T	4: 120,911,060 (GRCm39)	Y565F	probably damaging	Het
Csgalnact1	T	A	8: 68,826,202 (GRCm39)	N372I	probably damaging	Het
Csmd1	T	C	8: 16,138,315 (GRCm39)	D1579G	probably damaging	Het
Cyfip2	A	C	11: 46,144,792 (GRCm39)	Y687*	probably null	Het
Cyp2d34	G	A	15: 82,504,977 (GRCm39)	R28W	probably benign	Het
Dbndd2	C	A	2: 164,330,206 (GRCm39)	Q13K	probably damaging	Het
Dnah5	T	A	15: 28,233,377 (GRCm39)	S245R	probably benign	Het
Dnajb5	A	T	4: 42,956,990 (GRCm39)	T226S	probably damaging	Het
Dnmt1	T	C	9: 20,838,430 (GRCm39)	E211G	probably benign	Het
Dnpep	G	A	1: 75,291,872 (GRCm39)	H214Y	probably damaging	Het
Drc3	G	A	11: 60,261,406 (GRCm39)	V186M	possibly damaging	Het
Dvl3	A	G	16: 20,345,789 (GRCm39)	D413G	possibly damaging	Het
Dyrk4	C	T	6: 126,863,614 (GRCm39)		probably null	Het
Edc4	T	A	8: 106,612,506 (GRCm39)	D181E	probably damaging	Het
Enthd1	T	C	15: 80,393,487 (GRCm39)	Y247C	possibly damaging	Het
Gm5622	A	T	14: 51,892,372 (GRCm39)	R50S	possibly damaging	Het
Gpbp1	G	A	13: 111,603,389 (GRCm39)	T20I	probably damaging	Het
Hnrnpdl	A	T	5: 100,184,410 (GRCm39)	Y276*	probably null	Het
Hsd3b7	A	C	7: 127,400,404 (GRCm39)	E51A	probably damaging	Het
Ighv5-16	G	T	12: 113,802,238 (GRCm39)	F87L	probably damaging	Het
Iqsec1	C	T	6: 90,786,666 (GRCm39)		probably null	Het
Irgm2	A	T	11: 58,111,435 (GRCm39)	E387D	possibly damaging	Het
Klhl23	C	A	2: 69,664,040 (GRCm39)	P463Q	possibly damaging	Het
Mast4	A	T	13: 102,990,391 (GRCm39)	N43K	probably damaging	Het
Mme	T	G	3: 63,207,532 (GRCm39)		probably null	Het
Mrps31	T	G	8: 22,901,539 (GRCm39)	S20A	probably benign	Het
Myo5c	A	G	9: 75,157,091 (GRCm39)	R176G	probably damaging	Het
Naf1	T	C	8: 67,330,347 (GRCm39)	V291A	possibly damaging	Het
Nbeal1	A	T	1: 60,290,466 (GRCm39)	H1021L	possibly damaging	Het
Ncaph2	T	C	15: 89,248,206 (GRCm39)		probably null	Het
Neurod4	T	G	10: 130,106,869 (GRCm39)	Y135S	probably damaging	Het
Nrp2	A	T	1: 62,799,974 (GRCm39)	N396I	probably damaging	Het
Nvl	T	G	1: 180,962,560 (GRCm39)	T137P	probably benign	Het
Papola	T	C	12: 105,793,219 (GRCm39)	V513A	probably benign	Het
Pcdhgc4	T	A	18: 37,950,653 (GRCm39)	S690T	possibly damaging	Het
Pck1	A	T	2: 172,995,805 (GRCm39)	D101V	probably damaging	Het
Pdilt	T	A	7: 119,094,265 (GRCm39)	N329Y	probably damaging	Het
Pfkl	T	A	10: 77,825,447 (GRCm39)	R648W	probably damaging	Het
Prtn3	T	A	10: 79,716,382 (GRCm39)	I63N	probably damaging	Het
Psg22	C	T	7: 18,456,723 (GRCm39)	A163V	probably benign	Het
Pten	A	G	19: 32,777,485 (GRCm39)	T160A	possibly damaging	Het
Retreg2	A	G	1: 75,123,530 (GRCm39)	D449G	probably damaging	Het
Scn9a	T	C	2: 66,317,868 (GRCm39)	Y1531C	probably benign	Het
Sgk2	T	A	2: 162,841,174 (GRCm39)	C195S	probably damaging	Het
Slc19a3	C	T	1: 83,004,060 (GRCm39)	V14I	probably benign	Het
Snai2	A	T	16: 14,526,107 (GRCm39)	R253*	probably null	Het
Speg	G	A	1: 75,391,031 (GRCm39)	V1512I	probably damaging	Het
Srsf1	G	A	11: 87,940,425 (GRCm39)		probably benign	Het
Tctn3	G	T	19: 40,597,671 (GRCm39)	T190N	probably benign	Het
Tmprss11f	T	A	5: 86,687,558 (GRCm39)	I117L	probably benign	Het
Ttn	G	A	2: 76,682,413 (GRCm39)	R959*	probably null	Het
Vmn2r118	G	T	17: 55,899,871 (GRCm39)	L678I	possibly damaging	Het
Vps13b	T	C	15: 35,668,884 (GRCm39)	S1594P	probably damaging	Het
Vps13d	G	T	4: 144,875,135 (GRCm39)	H1791N	possibly damaging	Het

Other mutations in Or5p59

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01093:Or5p59	APN	7	107,702,851 (GRCm39)	missense	probably benign
IGL03028:Or5p59	APN	7	107,703,380 (GRCm39)	missense	probably damaging	0.99
IGL03275:Or5p59	APN	7	107,702,815 (GRCm39)	missense	probably damaging	1.00
R0671:Or5p59	UTSW	7	107,703,363 (GRCm39)	nonsense	probably null
R1403:Or5p59	UTSW	7	107,702,822 (GRCm39)	missense	probably benign	0.06
R1403:Or5p59	UTSW	7	107,702,822 (GRCm39)	missense	probably benign	0.06
R1646:Or5p59	UTSW	7	107,702,798 (GRCm39)	missense	probably benign	0.03
R1655:Or5p59	UTSW	7	107,702,671 (GRCm39)	missense	probably damaging	1.00
R2334:Or5p59	UTSW	7	107,702,555 (GRCm39)	missense	probably benign	0.02
R2904:Or5p59	UTSW	7	107,702,806 (GRCm39)	missense	probably benign	0.12
R3816:Or5p59	UTSW	7	107,702,705 (GRCm39)	missense	possibly damaging	0.90
R3817:Or5p59	UTSW	7	107,702,705 (GRCm39)	missense	possibly damaging	0.90
R3818:Or5p59	UTSW	7	107,702,705 (GRCm39)	missense	possibly damaging	0.90
R3819:Or5p59	UTSW	7	107,702,705 (GRCm39)	missense	possibly damaging	0.90
R5828:Or5p59	UTSW	7	107,703,005 (GRCm39)	missense	possibly damaging	0.51
R5949:Or5p59	UTSW	7	107,703,404 (GRCm39)	missense	probably damaging	1.00
R6120:Or5p59	UTSW	7	107,703,340 (GRCm39)	missense	probably damaging	1.00
R6505:Or5p59	UTSW	7	107,702,774 (GRCm39)	missense	probably benign	0.00
R7718:Or5p59	UTSW	7	107,702,855 (GRCm39)	missense	probably benign	0.00
R7946:Or5p59	UTSW	7	107,703,053 (GRCm39)	missense	probably benign	0.10
R8138:Or5p59	UTSW	7	107,702,764 (GRCm39)	missense	possibly damaging	0.73
R9248:Or5p59	UTSW	7	107,703,256 (GRCm39)	missense	probably damaging	1.00
R9594:Or5p59	UTSW	7	107,702,663 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

Posted On

2017-10-10