Mutagenetix > Incidental Mutation

Incidental Mutation 'R5828:Or5p59'

450263

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

Accession Numbers

Essential gene?

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

Stock #

R5828 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107702518-107703465 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107703005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 163 (V163A)

Ref Sequence

ENSEMBL: ENSMUSP00000150898 (fasta)

Gene Model

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

AlphaFold

Q8VG05

Predicted Effect

possibly damaging
Transcript: ENSMUST00000104917
AA Change: V163A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000100517
Gene: ENSMUSG00000078118
AA Change: V163A

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: V163A

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215159
AA Change: V163A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (63/63)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,432,144 (GRCm39)	D95G	unknown	Het
Arl10	T	A	13: 54,726,768 (GRCm39)	V182E	probably damaging	Het
Cacna1g	T	G	11: 94,347,980 (GRCm39)	S703R	probably damaging	Het
Ces2a	C	A	8: 105,465,956 (GRCm39)	T363N	probably benign	Het
Col14a1	G	A	15: 55,300,372 (GRCm39)	V967I	unknown	Het
Col22a1	A	T	15: 71,881,340 (GRCm39)	F4I	probably benign	Het
D630045J12Rik	A	G	6: 38,173,302 (GRCm39)	W289R	possibly damaging	Het
Disc1	A	G	8: 125,977,763 (GRCm39)	Q793R	probably damaging	Het
Dnhd1	C	T	7: 105,369,388 (GRCm39)	T4337I	probably benign	Het
Eif2b5	T	A	16: 20,321,536 (GRCm39)	V363D	possibly damaging	Het
Emsy	T	C	7: 98,242,699 (GRCm39)	T1147A	probably benign	Het
Epg5	T	A	18: 78,064,066 (GRCm39)	Y2048N	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Foxred1	A	G	9: 35,121,492 (GRCm39)		probably benign	Het
Gpaa1	T	C	15: 76,216,471 (GRCm39)		probably benign	Het
Gria4	A	C	9: 4,432,832 (GRCm39)	L784V	probably damaging	Het
Homer3	A	G	8: 70,738,956 (GRCm39)	Y105C	probably benign	Het
Hpgd	T	C	8: 56,772,106 (GRCm39)	S193P	probably benign	Het
Irf1	T	A	11: 53,666,762 (GRCm39)	W247R	probably benign	Het
Lpgat1	A	G	1: 191,508,494 (GRCm39)	Q344R	possibly damaging	Het
Luzp1	T	C	4: 136,267,993 (GRCm39)	V72A	probably damaging	Het
Malrd1	G	A	2: 15,531,464 (GRCm39)	V8M	probably benign	Het
Msmo1	T	C	8: 65,172,144 (GRCm39)	H253R	probably damaging	Het
Nom1	A	G	5: 29,640,124 (GRCm39)	K150R	possibly damaging	Het
Onecut1	A	G	9: 74,770,042 (GRCm39)	E155G	probably benign	Het
Or12k7	A	G	2: 36,959,001 (GRCm39)	H228R	probably benign	Het
Or14c46	T	A	7: 85,918,728 (GRCm39)	M90L	probably benign	Het
Osbpl10	G	A	9: 114,890,944 (GRCm39)	V111M	probably damaging	Het
Pcdhgb6	T	C	18: 37,877,457 (GRCm39)	S722P	probably benign	Het
Plin4	T	A	17: 56,414,064 (GRCm39)	D187V	probably damaging	Het
Pmf1	T	C	3: 88,303,294 (GRCm39)	E89G	possibly damaging	Het
Polr1d	A	T	5: 147,014,408 (GRCm39)		probably benign	Het
Ppp1r9a	T	C	6: 5,158,200 (GRCm39)	Y1006H	probably damaging	Het
Ppp2r5c	A	G	12: 110,537,134 (GRCm39)	K420E	probably benign	Het
Prdx1	T	C	4: 116,551,006 (GRCm39)	L159P	probably damaging	Het
Psmd6	G	T	14: 14,119,990 (GRCm38)	D39E	probably benign	Het
Rffl	T	C	11: 82,709,244 (GRCm39)	K60E	probably damaging	Het
Rspo2	A	T	15: 42,939,283 (GRCm39)	L169Q	probably damaging	Het
Sbf1	T	A	15: 89,172,837 (GRCm39)	D1892V	probably damaging	Het
Sbno2	G	A	10: 79,902,424 (GRCm39)	S475F	possibly damaging	Het
Serpina3i	T	A	12: 104,231,474 (GRCm39)	V37E	probably benign	Het
Siglecf	G	A	7: 43,001,137 (GRCm39)	C35Y	probably damaging	Het
Slc22a27	G	T	19: 7,903,767 (GRCm39)	D123E	probably damaging	Het
Smim23	T	A	11: 32,770,592 (GRCm39)	K105*	probably null	Het
Soat1	C	T	1: 156,265,318 (GRCm39)	S348N	probably benign	Het
Sp2	C	T	11: 96,851,811 (GRCm39)		probably benign	Het
St14	T	A	9: 31,002,803 (GRCm39)	H700L	probably damaging	Het
St3gal1	T	A	15: 66,985,634 (GRCm39)	K7*	probably null	Het
Tgm1	T	C	14: 55,943,011 (GRCm39)	K610E	probably benign	Het
Tob1	T	A	11: 94,104,583 (GRCm39)	Y40N	probably damaging	Het
Tob1	T	A	11: 94,104,585 (GRCm39)	Y40*	probably null	Het
Trpc4ap	A	G	2: 155,477,130 (GRCm39)		probably benign	Het
Ttc9	C	T	12: 81,678,450 (GRCm39)	P91L	probably benign	Het
Zbtb18	T	C	1: 177,275,446 (GRCm39)	S269P	probably damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het
Zfyve16	A	T	13: 92,650,410 (GRCm39)	V858E	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
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'- AATCTCCTACCTTGGATGTGGC -3'
(R):5'- CATCTTCAGGATGGTGATGAGG -3'

Sequencing Primer
(F):5'- ATCCAGCTTGGCTCAGCTG -3'
(R):5'- CTTCAGGATGGTGATGAGGATGTAG -3'

Posted On

2016-12-20