Mutagenetix > Incidental Mutation

Incidental Mutation 'R1403:Or5p59'

188611

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

039465-MU

Accession Numbers

Essential gene?

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

Stock #

R1403 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107702518-107703465 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107702822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 102 (I102N)

Ref Sequence

ENSEMBL: ENSMUSP00000150898 (fasta)

Gene Model

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

AlphaFold

Q8VG05

Predicted Effect

probably benign
Transcript: ENSMUST00000104917
AA Change: I102N

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000100517
Gene: ENSMUSG00000078118
AA Change: I102N

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
AA Change: I102N

Predicted Effect

probably benign
Transcript: ENSMUST00000215159
AA Change: I102N

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.1977

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

94% (51/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	A	4: 53,059,253 (GRCm39)		probably benign	Het
AC238840.3	T	G	7: 38,567,345 (GRCm39)	I28L	probably benign	Het
Acsf2	G	T	11: 94,453,700 (GRCm39)	N420K	probably benign	Het
Adam26a	A	T	8: 44,022,229 (GRCm39)	C420*	probably null	Het
Afap1l1	T	C	18: 61,874,909 (GRCm39)	Y424C	probably damaging	Het
Agl	A	G	3: 116,576,246 (GRCm39)	V553A	probably benign	Het
Akr7a5	T	A	4: 139,045,434 (GRCm39)	M325K	probably damaging	Het
Akt3	C	T	1: 176,958,676 (GRCm39)		probably benign	Het
Aldh7a1	C	A	18: 56,692,341 (GRCm39)	E87*	probably null	Het
Arhgap29	A	G	3: 121,767,578 (GRCm39)	K7E	probably damaging	Het
Brca2	T	A	5: 150,466,114 (GRCm39)	D1959E	probably benign	Het
Cdc42se2	A	G	11: 54,611,192 (GRCm39)		probably benign	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Chil5	G	T	3: 105,925,409 (GRCm39)	Q171K	probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Dhrs7c	A	T	11: 67,702,476 (GRCm39)	I155F	probably damaging	Het
Dip2c	A	G	13: 9,603,300 (GRCm39)		probably null	Het
Ell	T	A	8: 71,044,138 (GRCm39)		probably benign	Het
Fam124b	T	C	1: 80,191,056 (GRCm39)	Y109C	possibly damaging	Het
Gak	T	A	5: 108,739,011 (GRCm39)	K156M	probably damaging	Het
Gm9797	C	A	10: 11,485,294 (GRCm39)		noncoding transcript	Het
Got1l1	C	G	8: 27,690,745 (GRCm39)		probably null	Het
Grm1	T	C	10: 10,955,879 (GRCm39)	D135G	probably benign	Het
Hrh3	T	G	2: 179,744,547 (GRCm39)	D131A	probably damaging	Het
Itpr1	A	T	6: 108,366,514 (GRCm39)	Q979L	probably null	Het
Kdm7a	C	A	6: 39,128,187 (GRCm39)		probably benign	Het
Klb	G	C	5: 65,506,089 (GRCm39)	R112P	possibly damaging	Het
Lingo2	A	T	4: 35,709,420 (GRCm39)	C187S	possibly damaging	Het
Lrp1	T	A	10: 127,417,760 (GRCm39)		probably null	Het
Ltbp4	T	C	7: 27,028,464 (GRCm39)	N266S	unknown	Het
Mgam	G	A	6: 40,643,815 (GRCm39)	S581N	possibly damaging	Het
Mrgpra9	T	A	7: 46,885,386 (GRCm39)	I94L	probably benign	Het
Msantd4	A	T	9: 4,384,023 (GRCm39)	I115F	probably benign	Het
Mterf3	A	G	13: 67,077,944 (GRCm39)		probably benign	Het
Neurl1a	C	A	19: 47,242,150 (GRCm39)	N414K	probably damaging	Het
Nfkbiz	A	G	16: 55,636,833 (GRCm39)		probably benign	Het
Nrxn1	A	C	17: 90,950,481 (GRCm39)	L566R	probably benign	Het
Nsmce1	A	G	7: 125,067,027 (GRCm39)		probably benign	Het
Prl7d1	A	T	13: 27,893,180 (GRCm39)	F243I	possibly damaging	Het
Rbm27	T	C	18: 42,450,746 (GRCm39)	S509P	probably damaging	Het
Rnf126	C	T	10: 79,596,702 (GRCm39)	A239T	probably benign	Het
Rnf44	C	T	13: 54,829,821 (GRCm39)	E306K	probably damaging	Het
Rp1	T	C	1: 4,416,520 (GRCm39)	R1531G	possibly damaging	Het
Sf3b4	A	G	3: 96,080,953 (GRCm39)		probably null	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Syt15	C	A	14: 33,943,159 (GRCm39)		probably benign	Het
Vcan	T	A	13: 89,836,603 (GRCm39)	E2980D	probably benign	Het
Vps13b	A	G	15: 35,709,268 (GRCm39)		probably benign	Het
Vwa2	C	T	19: 56,869,570 (GRCm39)	P2S	unknown	Het
Wdr77	G	A	3: 105,874,573 (GRCm39)	V322I	possibly damaging	Het
Zfp12	C	A	5: 143,230,535 (GRCm39)	Y287*	probably null	Het
Zfp937	T	A	2: 150,080,868 (GRCm39)	Y299*	probably null	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
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
R9594:Or5p59	UTSW	7	107,702,663 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGTTTGGCAACCTCAGCACCATC -3'
(R):5'- CACCTTGTTCTGGTCTGTGGAGAAG -3'

Sequencing Primer
(F):5'- GCACCATCCTTCTCATCAGAG -3'
(R):5'- CGATTCTATTTGGCCCACAGAAG -3'

Posted On

2014-05-09