Incidental Mutation 'R6999:Or2o1'
ID 544408
Institutional Source Beutler Lab
Gene Symbol Or2o1
Ensembl Gene ENSMUSG00000048378
Gene Name olfactory receptor family 2 subfamily O member 1
Synonyms MOR280-1, Olfr1394, GA_x6K02T2QP88-6274566-6273628
MMRRC Submission 045104-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6999 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 49050843-49051781 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49051239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 133 (R133G)
Ref Sequence ENSEMBL: ENSMUSP00000149520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052668] [ENSMUST00000216273]
AlphaFold Q8VET2
Predicted Effect possibly damaging
Transcript: ENSMUST00000052668
AA Change: R133G

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000063062
Gene: ENSMUSG00000048378
AA Change: R133G

Pfam:7tm_4 30 309 6.5e-53 PFAM
Pfam:7TM_GPCR_Srsx 37 233 3e-5 PFAM
Pfam:7tm_1 43 292 2.1e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216273
AA Change: R133G

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,356,321 (GRCm39) Q629* probably null Het
Acss3 C A 10: 106,889,362 (GRCm39) G153C probably damaging Het
Alpk2 A G 18: 65,437,584 (GRCm39) S1270P probably damaging Het
Ankrd10 A T 8: 11,669,106 (GRCm39) L215Q probably damaging Het
Ankrd6 A G 4: 32,823,459 (GRCm39) S188P probably benign Het
Brinp2 A G 1: 158,078,875 (GRCm39) M316T probably benign Het
Bsn A G 9: 107,990,632 (GRCm39) S1707P probably benign Het
C2cd4b C T 9: 67,667,571 (GRCm39) A189V probably benign Het
Camk2b C T 11: 5,922,321 (GRCm39) R556H probably damaging Het
Cfap126 A G 1: 170,953,733 (GRCm39) D101G possibly damaging Het
Chd5 A T 4: 152,458,891 (GRCm39) I1085F probably damaging Het
Chp2 A G 7: 121,821,092 (GRCm39) E151G probably damaging Het
Chrd A G 16: 20,554,402 (GRCm39) T370A probably benign Het
Chrnb2 C T 3: 89,668,622 (GRCm39) R231H possibly damaging Het
Crisp4 T A 1: 18,207,259 (GRCm39) I10F possibly damaging Het
Csnka2ip T A 16: 64,298,933 (GRCm39) H477L unknown Het
Ctu1 T A 7: 43,324,662 (GRCm39) F34I probably damaging Het
Dctn1 T A 6: 83,168,263 (GRCm39) S407T possibly damaging Het
Ech1 T C 7: 28,529,689 (GRCm39) F191L probably benign Het
Enpp3 T C 10: 24,684,064 (GRCm39) D60G probably damaging Het
Epha6 T C 16: 60,245,533 (GRCm39) Y222C possibly damaging Het
Eppk1 A T 15: 75,993,423 (GRCm39) W1153R probably benign Het
Fbxo4 C T 15: 4,007,437 (GRCm39) D76N probably damaging Het
Fndc7 G A 3: 108,783,964 (GRCm39) A215V probably benign Het
Gemin5 C T 11: 58,015,947 (GRCm39) R1352Q probably benign Het
Gm9639 T C 10: 77,630,525 (GRCm39) probably benign Het
Gm973 C A 1: 59,673,251 (GRCm39) Q160K unknown Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Grid2 A T 6: 64,053,893 (GRCm39) Q364L possibly damaging Het
Kcnn2 T G 18: 45,725,444 (GRCm39) S313R probably damaging Het
Kera T C 10: 97,444,814 (GRCm39) Y58H probably damaging Het
Meiosin A G 7: 18,836,300 (GRCm39) probably benign Het
Mtfr2 T C 10: 20,229,862 (GRCm39) L105P probably benign Het
Myom2 A G 8: 15,134,531 (GRCm39) T445A probably benign Het
Or8b1c T A 9: 38,384,535 (GRCm39) L164Q probably damaging Het
Pcdha12 T C 18: 37,153,329 (GRCm39) L16P probably benign Het
Pcdhb10 T C 18: 37,546,171 (GRCm39) Y416H probably damaging Het
Pde8b T C 13: 95,223,342 (GRCm39) Y304C possibly damaging Het
Pkd1 T C 17: 24,797,475 (GRCm39) I2605T possibly damaging Het
Pnn T C 12: 59,117,085 (GRCm39) probably null Het
Ppa1 G A 10: 61,496,796 (GRCm39) G95S probably damaging Het
Rapgef4 G T 2: 72,069,469 (GRCm39) A730S probably damaging Het
Scap A G 9: 110,213,715 (GRCm39) Y1226C probably damaging Het
Scn2a A T 2: 65,512,453 (GRCm39) T197S probably benign Het
Slc2a6 GCTTCC GC 2: 26,916,047 (GRCm39) probably null Het
Slc8a3 T C 12: 81,361,529 (GRCm39) Y430C probably benign Het
Tead3 T C 17: 28,560,506 (GRCm39) T33A probably benign Het
Tep1 T A 14: 51,088,162 (GRCm39) I792F possibly damaging Het
Trpm2 A T 10: 77,771,725 (GRCm39) I638N probably damaging Het
Tuba1c A G 15: 98,935,193 (GRCm39) D218G probably benign Het
Tubgcp4 T A 2: 121,022,778 (GRCm39) W495R probably damaging Het
Tut1 T C 19: 8,943,382 (GRCm39) L823P probably damaging Het
Ube2q2l T C 6: 136,378,272 (GRCm39) N186S probably benign Het
Umodl1 C T 17: 31,218,097 (GRCm39) A1228V probably damaging Het
Vmn1r235 T A 17: 21,482,127 (GRCm39) F151I probably benign Het
Vmn2r45 T A 7: 8,486,219 (GRCm39) K356N probably benign Het
Zfp318 T A 17: 46,710,969 (GRCm39) N897K probably damaging Het
Other mutations in Or2o1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01525:Or2o1 APN 11 49,051,501 (GRCm39) missense probably damaging 1.00
IGL01603:Or2o1 APN 11 49,051,438 (GRCm39) missense probably damaging 1.00
IGL01736:Or2o1 APN 11 49,051,354 (GRCm39) missense probably damaging 1.00
IGL02246:Or2o1 APN 11 49,050,921 (GRCm39) missense probably benign 0.44
IGL02321:Or2o1 APN 11 49,051,602 (GRCm39) missense probably damaging 1.00
IGL03405:Or2o1 APN 11 49,051,713 (GRCm39) splice site probably null
R0358:Or2o1 UTSW 11 49,051,071 (GRCm39) missense probably benign 0.00
R1967:Or2o1 UTSW 11 49,051,675 (GRCm39) missense probably benign 0.06
R2472:Or2o1 UTSW 11 49,051,198 (GRCm39) missense possibly damaging 0.76
R3824:Or2o1 UTSW 11 49,051,620 (GRCm39) missense possibly damaging 0.48
R4105:Or2o1 UTSW 11 49,051,375 (GRCm39) missense possibly damaging 0.51
R4255:Or2o1 UTSW 11 49,051,262 (GRCm39) nonsense probably null
R4716:Or2o1 UTSW 11 49,051,717 (GRCm39) missense probably damaging 1.00
R5545:Or2o1 UTSW 11 49,051,453 (GRCm39) missense probably damaging 1.00
R6894:Or2o1 UTSW 11 49,051,186 (GRCm39) missense probably benign 0.06
R8077:Or2o1 UTSW 11 49,051,312 (GRCm39) missense probably damaging 1.00
R8266:Or2o1 UTSW 11 49,051,352 (GRCm39) nonsense probably null
R8387:Or2o1 UTSW 11 49,051,497 (GRCm39) missense probably damaging 1.00
R8712:Or2o1 UTSW 11 49,051,297 (GRCm39) missense probably benign 0.39
R9160:Or2o1 UTSW 11 49,051,261 (GRCm39) missense probably damaging 1.00
R9542:Or2o1 UTSW 11 49,051,073 (GRCm39) nonsense probably null
Z1177:Or2o1 UTSW 11 49,051,692 (GRCm39) frame shift probably null
Z1177:Or2o1 UTSW 11 49,051,125 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-05-13