Incidental Mutation 'R7718:Or5p59'
ID 595045
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 045775-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R7718 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 107702518-107703465 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107702855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 113 (V113A)
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: V113A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100517
Gene: ENSMUSG00000078118
AA Change: V113A

DomainStartEndE-ValueType
Pfam:7tm_4 34 312 1.6e-51 PFAM
Pfam:7tm_1 44 294 2.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215159
AA Change: V113A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (77/78)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A T 5: 138,646,122 (GRCm39) H669L possibly damaging Het
Abcb1a A T 5: 8,765,788 (GRCm39) N700I probably damaging Het
Abcc6 T C 7: 45,626,816 (GRCm39) K1414E possibly damaging Het
Adcy5 T C 16: 35,100,785 (GRCm39) V779A probably benign Het
Agap2 A G 10: 126,915,734 (GRCm39) S82G possibly damaging Het
Aldh1l1 A G 6: 90,575,305 (GRCm39) N864S probably damaging Het
Ang2 A T 14: 51,433,217 (GRCm39) V55E probably benign Het
Ank2 A G 3: 126,758,662 (GRCm39) M179T possibly damaging Het
Atrnl1 T A 19: 57,728,615 (GRCm39) C1090* probably null Het
Atxn1l A G 8: 110,459,866 (GRCm39) L132P probably damaging Het
Bptf A G 11: 106,972,282 (GRCm39) V862A possibly damaging Het
Capn11 C A 17: 45,954,707 (GRCm39) K143N probably damaging Het
Card6 A G 15: 5,129,269 (GRCm39) V709A possibly damaging Het
Cavin4 C T 4: 48,671,984 (GRCm39) A143V probably benign Het
Cntn5 A G 9: 9,984,133 (GRCm39) I160T probably benign Het
Cyp2c40 T A 19: 39,755,782 (GRCm39) N511Y probably benign Het
Dsc2 A T 18: 20,174,835 (GRCm39) I480N probably damaging Het
Elf2 G T 3: 51,173,385 (GRCm39) probably benign Het
Enoph1 T C 5: 100,210,019 (GRCm39) V133A possibly damaging Het
Ezh2 A T 6: 47,531,125 (GRCm39) D186E probably benign Het
Fcgbpl1 T C 7: 27,846,626 (GRCm39) F1106S probably damaging Het
Gfra1 T C 19: 58,441,889 (GRCm39) D14G possibly damaging Het
Gmip C T 8: 70,270,383 (GRCm39) R698W probably damaging Het
Grk4 A G 5: 34,852,160 (GRCm39) N135D probably benign Het
Hspb6 A G 7: 30,253,772 (GRCm39) D95G probably benign Het
Htatip2 T G 7: 49,420,632 (GRCm39) H159Q possibly damaging Het
Igfn1 T C 1: 135,896,774 (GRCm39) E1264G probably benign Het
Insyn2b T C 11: 34,352,539 (GRCm39) S194P probably benign Het
Katnb1 T A 8: 95,821,836 (GRCm39) V223E possibly damaging Het
Klra6 AGG AG 6: 129,990,315 (GRCm39) probably null Het
Masp2 C T 4: 148,687,204 (GRCm39) R29C probably damaging Het
Mcm3 A T 1: 20,887,498 (GRCm39) C123* probably null Het
Mdn1 T C 4: 32,718,420 (GRCm39) V2225A probably damaging Het
Me1 A G 9: 86,561,953 (GRCm39) L44S probably damaging Het
Mlxip A G 5: 123,583,577 (GRCm39) N380S probably benign Het
Muc21 T C 17: 35,933,728 (GRCm39) T153A unknown Het
Myh14 C T 7: 44,310,464 (GRCm39) V140I probably damaging Het
Myocd A T 11: 65,109,452 (GRCm39) D106E probably damaging Het
Oat T C 7: 132,159,988 (GRCm39) I411V probably benign Het
Or2d2 A T 7: 106,727,925 (GRCm39) V225D probably damaging Het
Or8k38 A G 2: 86,488,373 (GRCm39) V143A probably benign Het
Orc2 A T 1: 58,519,476 (GRCm39) H246Q possibly damaging Het
Pank4 A G 4: 155,059,100 (GRCm39) E411G probably damaging Het
Patl2 A T 2: 121,957,255 (GRCm39) probably null Het
Pcdhb15 A G 18: 37,608,216 (GRCm39) N483D probably damaging Het
Pcdhb20 A G 18: 37,638,704 (GRCm39) D410G probably damaging Het
Pdcl2 A G 5: 76,465,846 (GRCm39) C125R probably damaging Het
Peli3 C G 19: 4,984,584 (GRCm39) probably null Het
Pkd1 A G 17: 24,805,474 (GRCm39) D3313G probably benign Het
Plec A C 15: 76,061,639 (GRCm39) M2766R probably damaging Het
Ppargc1a C T 5: 51,655,504 (GRCm39) V99M probably damaging Het
Prr35 T A 17: 26,165,998 (GRCm39) R430* probably null Het
Psg19 G A 7: 18,526,368 (GRCm39) A374V probably benign Het
Psmd7 A T 8: 108,313,261 (GRCm39) F54L possibly damaging Het
Ptbp2 C T 3: 119,514,637 (GRCm39) G397R probably null Het
Ranbp3 A G 17: 57,003,718 (GRCm39) D39G probably damaging Het
Rcor3 T C 1: 191,786,021 (GRCm39) T406A probably benign Het
Rhbdl2 T A 4: 123,718,712 (GRCm39) I222K probably damaging Het
Ripk2 T C 4: 16,151,968 (GRCm39) N197S possibly damaging Het
Rpia A T 6: 70,743,602 (GRCm39) M283K probably damaging Het
Rps6kc1 T C 1: 190,604,022 (GRCm39) D200G probably benign Het
Sipa1l1 A T 12: 82,389,271 (GRCm39) K499M probably damaging Het
Slc5a4b A G 10: 75,906,407 (GRCm39) L404P probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Spmip4 G A 6: 50,566,078 (GRCm39) probably null Het
St7 A C 6: 17,854,998 (GRCm39) T312P probably damaging Het
Strbp T C 2: 37,515,294 (GRCm39) E244G probably damaging Het
Tbc1d8 T G 1: 39,416,061 (GRCm39) T871P probably benign Het
Tcp1 T A 17: 13,141,049 (GRCm39) I286N probably damaging Het
Tead3 C A 17: 28,552,491 (GRCm39) V327F probably damaging Het
Tmem132c A T 5: 127,640,504 (GRCm39) T892S probably benign Het
Trmt2a T C 16: 18,068,487 (GRCm39) S65P probably benign Het
Ubp1 A G 9: 113,802,597 (GRCm39) N479S possibly damaging Het
Ubtfl1 A T 9: 18,320,527 (GRCm39) L18F possibly damaging Het
Uevld T G 7: 46,587,804 (GRCm39) M299L probably benign Het
Unc13b T A 4: 43,173,854 (GRCm39) Y1561N unknown Het
Ylpm1 A G 12: 85,075,896 (GRCm39) K874E probably damaging Het
Zbtb37 G A 1: 160,859,802 (GRCm39) R168W possibly damaging Het
Other mutations in Or5p59
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TTGGCAACCTCAGCACCATC -3'
(R):5'- TTCTATTTGGCCCACAGAAGAG -3'

Sequencing Primer
(F):5'- GCACCATCCTTCTCATCAGAG -3'
(R):5'- TCTATTTGGCCCACAGAAGAGAAAAG -3'
Posted On 2019-11-12