Incidental Mutation 'R2334:Or5p59'
ID 246525
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 # R2334 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 107702518-107703465 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 107702555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 13 (T13I)
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: T13I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000100517
Gene: ENSMUSG00000078118
AA Change: T13I

DomainStartEndE-ValueType
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: T13I
Predicted Effect probably benign
Transcript: ENSMUST00000215159
AA Change: T13I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 A G 4: 144,255,429 (GRCm39) K283R probably damaging Het
Ceacam20 T C 7: 19,705,516 (GRCm39) F169S probably damaging Het
Clint1 A G 11: 45,799,855 (GRCm39) Q556R probably damaging Het
Cpa5 G A 6: 30,624,605 (GRCm39) W148* probably null Het
Cryz C T 3: 154,327,828 (GRCm39) A310V probably benign Het
Dlk1 T C 12: 109,419,614 (GRCm39) V10A probably damaging Het
Fbxw16 T G 9: 109,267,429 (GRCm39) L267F probably benign Het
Frmpd1 T C 4: 45,285,408 (GRCm39) S1410P probably damaging Het
Itgb4 A T 11: 115,884,261 (GRCm39) I982F probably damaging Het
Lrrfip2 G A 9: 111,048,793 (GRCm39) C250Y probably benign Het
Mia3 A G 1: 183,115,256 (GRCm39) probably null Het
Mlh3 T A 12: 85,314,851 (GRCm39) D445V probably benign Het
Ndst4 T A 3: 125,501,825 (GRCm39) N129K possibly damaging Het
Nlrp2 T A 7: 5,340,534 (GRCm39) E93D probably benign Het
Olfm3 T A 3: 114,895,608 (GRCm39) Y163* probably null Het
Or2ak5 A T 11: 58,611,288 (GRCm39) Y195* probably null Het
Pdzph1 A G 17: 59,229,644 (GRCm39) S1005P probably damaging Het
Slc46a2 G A 4: 59,914,150 (GRCm39) P258S possibly damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Ttn T C 2: 76,556,138 (GRCm39) E21962G possibly damaging Het
Unc13a T C 8: 72,087,202 (GRCm39) D1515G probably damaging Het
Vmn2r70 T C 7: 85,208,800 (GRCm39) N559S probably benign Het
Wwp1 A T 4: 19,662,032 (GRCm39) I158K probably benign 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
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'- TCAAGGCCTTATTTCACACAGATAC -3'
(R):5'- CTATGTCAACAGAAGCCAAGTG -3'

Sequencing Primer
(F):5'- AACATCCATTGCTAGCTGGG -3'
(R):5'- GTTGCCAAACACAGTCAC -3'
Posted On 2014-10-30