Mutagenetix > Incidental Mutation

Incidental Mutation 'R9594:Or5p59'

723163

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R9594 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107702518-107703465 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 107702663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 49 (I49S)

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: I49S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100517
Gene: ENSMUSG00000078118
AA Change: I49S

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

probably damaging
Transcript: ENSMUST00000215159
AA Change: I49S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aida	T	C	1: 183,095,012 (GRCm39)	V151A	possibly damaging	Het
Akap3	T	C	6: 126,842,377 (GRCm39)	V332A	probably damaging	Het
Apobec3	T	A	15: 79,790,653 (GRCm39)	W332R		Het
Atf6	A	G	1: 170,668,402 (GRCm39)	V166A	probably benign	Het
Bcl6b	A	G	11: 70,118,858 (GRCm39)		probably null	Het
Brd3	G	T	2: 27,340,373 (GRCm39)	P612Q	probably damaging	Het
Btg1	T	A	10: 96,453,263 (GRCm39)	L26H	probably damaging	Het
Btg4	A	G	9: 51,030,560 (GRCm39)	D220G	probably damaging	Het
Cd209e	T	C	8: 3,901,183 (GRCm39)	D157G	probably benign	Het
Cdhr18	A	T	14: 13,814,959 (GRCm38)	L858Q	unknown	Het
Cimip2b	T	G	4: 43,427,329 (GRCm39)	T332P	unknown	Het
Dnah10	T	C	5: 124,907,107 (GRCm39)	L4269P	probably damaging	Het
Dync1li2	C	A	8: 105,154,752 (GRCm39)	K285N	possibly damaging	Het
Ehmt2	C	A	17: 35,118,740 (GRCm39)	Q198K	possibly damaging	Het
Foxn3	C	A	12: 99,359,294 (GRCm39)		probably benign	Het
Fstl4	C	T	11: 52,664,694 (GRCm39)	P8L	probably benign	Het
G6pc1	T	C	11: 101,258,660 (GRCm39)	I13T	possibly damaging	Het
Ghrhr	A	G	6: 55,362,470 (GRCm39)	I356V	probably benign	Het
Gm14410	A	T	2: 176,885,773 (GRCm39)	C164S	probably damaging	Het
Gpcpd1	A	T	2: 132,388,848 (GRCm39)	M308K	possibly damaging	Het
Gpr143	GTTTTTT	GTTTTTTT	X: 151,578,627 (GRCm39)		probably null	Het
Gpr179	T	C	11: 97,225,727 (GRCm39)	K2143E	probably benign	Het
Grm2	G	A	9: 106,524,408 (GRCm39)	T298I	probably damaging	Het
H2-T24	A	T	17: 36,326,455 (GRCm39)	L148Q	probably damaging	Het
Hcn2	C	T	10: 79,560,559 (GRCm39)	R297C	probably damaging	Het
Hic1	T	C	11: 75,056,757 (GRCm39)	T711A	possibly damaging	Het
Ide	T	C	19: 37,264,514 (GRCm39)	D672G		Het
Impg1	A	G	9: 80,288,923 (GRCm39)	F378S	probably damaging	Het
Lipe	T	C	7: 25,098,128 (GRCm39)		probably benign	Het
Lmo7	A	G	14: 102,156,136 (GRCm39)	D1270G	probably null	Het
Mbnl1	A	T	3: 60,520,859 (GRCm39)	H149L	probably damaging	Het
Mmel1	T	C	4: 154,978,592 (GRCm39)	Y675H	probably benign	Het
Mrfap1	C	A	5: 36,953,807 (GRCm39)	R44L	probably damaging	Het
Nherf2	G	T	17: 24,868,922 (GRCm39)	T68K	probably damaging	Het
Notch2	A	G	3: 98,041,889 (GRCm39)	T1303A	possibly damaging	Het
Olfm3	A	G	3: 114,883,785 (GRCm39)	D62G	probably damaging	Het
Or10ak13	T	C	4: 118,638,952 (GRCm39)	I277V	probably benign	Het
Or2i1	C	G	17: 37,508,308 (GRCm39)	A109P	possibly damaging	Het
Or5g27	C	T	2: 85,409,882 (GRCm39)	Q100*	probably null	Het
Or5l13	T	C	2: 87,780,544 (GRCm39)	E11G	probably damaging	Het
Or6c8b	T	A	10: 128,882,354 (GRCm39)	I193F	probably benign	Het
Pcbd2	A	G	13: 55,880,849 (GRCm39)	Y68C	probably benign	Het
Phf3	G	C	1: 30,869,003 (GRCm39)	Q682E	probably benign	Het
Ptpn6	C	A	6: 124,704,728 (GRCm39)	R294L	probably benign	Het
Ptprz1	T	A	6: 23,025,026 (GRCm39)	V1754D	probably damaging	Het
Rab36	T	A	10: 74,887,873 (GRCm39)	I248K	probably damaging	Het
Rabac1	A	G	7: 24,671,579 (GRCm39)	Y114H	probably benign	Het
Rag1	A	G	2: 101,474,701 (GRCm39)	V147A	probably benign	Het
Rnf150	T	A	8: 83,717,144 (GRCm39)	V217D	probably damaging	Het
Scarf2	G	T	16: 17,620,473 (GRCm39)	C101F	probably damaging	Het
Sh3glb2	C	T	2: 30,236,672 (GRCm39)	R230Q	probably damaging	Het
Slc13a1	A	G	6: 24,089,100 (GRCm39)	V550A	probably damaging	Het
Sp140	A	G	1: 85,560,235 (GRCm39)	N289S	possibly damaging	Het
Spmip6	T	C	4: 41,505,091 (GRCm39)	E207G		Het
Stac3	T	A	10: 127,338,654 (GRCm39)	M1K	probably null	Het
Stk31	C	T	6: 49,424,221 (GRCm39)	T845I	possibly damaging	Het
Sufu	T	C	19: 46,385,674 (GRCm39)	Y45H	probably damaging	Het
Tg	T	A	15: 66,607,109 (GRCm39)	C1834*	probably null	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Tpcn1	T	C	5: 120,686,021 (GRCm39)	T427A	possibly damaging	Het
Trim45	A	G	3: 100,830,265 (GRCm39)	H13R	probably benign	Het
Trpv5	A	G	6: 41,647,773 (GRCm39)	F347L	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Zfp236	G	T	18: 82,664,238 (GRCm39)	Q516K	probably 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
R6143:Or5p59	UTSW	7	107,703,335 (GRCm39)	missense	probably damaging	0.96
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

Predicted Primers

PCR Primer
(F):5'- GTCTCTATCACAGCCTTGATGTGG -3'
(R):5'- GCAGCCAAAAGGAAGCATTC -3'

Sequencing Primer
(F):5'- CCTTGATGTGGCAGTGACTACAC -3'
(R):5'- TGCAATGAAATCAGCTGAGCC -3'

Posted On

2022-08-09