Mutagenetix > Incidental Mutation

Incidental Mutation 'R9248:Or5p59'

701359

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 #

R9248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107702518-107703465 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107703256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 247 (S247P)

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: S247P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000100517
Gene: ENSMUSG00000078118
AA Change: S247P

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: S247P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	C	9: 118,983,002 (GRCm39)	N132S	probably benign	Het
Agpat2	A	G	2: 26,483,601 (GRCm39)	*279Q	probably null	Het
Akr1c19	C	A	13: 4,292,974 (GRCm39)	D243E	probably benign	Het
Alg2	A	G	4: 47,474,001 (GRCm39)	F96L	probably benign	Het
Apob	C	T	12: 8,065,231 (GRCm39)	Q4067*	probably null	Het
C1ra	A	T	6: 124,489,580 (GRCm39)		probably benign	Het
C8a	T	C	4: 104,703,199 (GRCm39)	Y330C	probably damaging	Het
Ccdc185	A	G	1: 182,576,221 (GRCm39)	V156A	probably benign	Het
Ces1g	A	G	8: 94,060,319 (GRCm39)	L100P	possibly damaging	Het
Cnbd1	T	C	4: 18,862,113 (GRCm39)	N359S	possibly damaging	Het
Crybb2	C	T	5: 113,211,094 (GRCm39)	A65T	probably benign	Het
Dcaf5	T	C	12: 80,386,563 (GRCm39)	D521G	probably benign	Het
Dnmt1	A	G	9: 20,833,408 (GRCm39)	F631L	possibly damaging	Het
Dok1	T	A	6: 83,008,893 (GRCm39)	D263V	possibly damaging	Het
Ecel1	A	G	1: 87,081,112 (GRCm39)	F293L	probably benign	Het
Ehmt1	A	T	2: 24,738,077 (GRCm39)	L509Q	possibly damaging	Het
Fbln2	T	A	6: 91,231,556 (GRCm39)	V551E	possibly damaging	Het
Fig4	C	T	10: 41,153,478 (GRCm39)	V108I	probably benign	Het
Gpa33	A	G	1: 165,991,396 (GRCm39)	Y209C	probably damaging	Het
Heatr5a	T	C	12: 51,963,026 (GRCm39)	H52R		Het
Heatr9	A	T	11: 83,409,281 (GRCm39)	D157E	possibly damaging	Het
Jakmip2	A	C	18: 43,685,242 (GRCm39)	M682R	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Layn	A	G	9: 50,968,760 (GRCm39)	S328P	possibly damaging	Het
Mblac2	A	G	13: 81,859,769 (GRCm39)	D41G	probably damaging	Het
Mboat1	A	G	13: 30,410,392 (GRCm39)	Y283C	probably damaging	Het
Mdga2	A	G	12: 66,736,226 (GRCm39)	V334A	possibly damaging	Het
Mroh4	C	T	15: 74,485,167 (GRCm39)	R515H	possibly damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nsrp1	G	A	11: 76,937,036 (GRCm39)	R387W	probably benign	Het
Or8c16	T	C	9: 38,130,706 (GRCm39)	Y193H	probably benign	Het
Ostm1	T	C	10: 42,574,210 (GRCm39)	V301A	probably damaging	Het
Pcdhb13	A	T	18: 37,577,608 (GRCm39)	D662V	probably damaging	Het
Pfpl	T	A	19: 12,406,374 (GRCm39)	S208R	probably damaging	Het
Plin5	A	T	17: 56,419,324 (GRCm39)	V366E	probably damaging	Het
Rmi1	A	G	13: 58,556,899 (GRCm39)	I383V	probably benign	Het
Rnh1	T	C	7: 140,740,714 (GRCm39)	T414A	probably benign	Het
Sash1	C	A	10: 8,617,296 (GRCm39)	G537W	probably damaging	Het
Slc9c1	A	G	16: 45,370,551 (GRCm39)	N264S	probably benign	Het
Speg	A	C	1: 75,398,420 (GRCm39)	T1956P	probably damaging	Het
St14	T	C	9: 31,002,905 (GRCm39)	Y666C	probably damaging	Het
Stab2	T	A	10: 86,727,481 (GRCm39)	H1448L	probably damaging	Het
Syne2	C	T	12: 76,154,230 (GRCm39)		probably benign	Het
Taf9	T	A	13: 100,790,860 (GRCm39)		probably benign	Het
Thumpd2	G	A	17: 81,334,040 (GRCm39)	A516V	possibly damaging	Het
Tmem132e	A	G	11: 82,335,308 (GRCm39)	K797E	probably damaging	Het
Tpte	A	G	8: 22,841,489 (GRCm39)	T494A	possibly damaging	Het
Ttc41	T	A	10: 86,567,113 (GRCm39)	L593Q	probably benign	Het
Uggt1	A	C	1: 36,249,103 (GRCm39)	I279S	possibly damaging	Het
Uxs1	A	G	1: 43,804,084 (GRCm39)	F277S	probably damaging	Het
Vat1	A	T	11: 101,351,380 (GRCm39)	N320K	possibly damaging	Het
Wdr81	G	T	11: 75,336,256 (GRCm39)	A592E		Het
Zfp780b	C	T	7: 27,673,143 (GRCm39)		probably null	Het
Zfp944	A	T	17: 22,562,619 (GRCm39)		probably null	Het
Zfp956	G	T	6: 47,934,437 (GRCm39)	G136W	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
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
R9594:Or5p59	UTSW	7	107,702,663 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGTGGGCCAAATAGAATCGATC -3'
(R):5'- CAAGCTGTCTCTTCAGAGCAC -3'

Sequencing Primer
(F):5'- TCCTTTAGCAGAACTCTCCTGC -3'
(R):5'- CCTTTAATTTCATTATTGCTGAGGC -3'

Posted On

2022-03-25