Incidental Mutation 'R8387:Or2o1'
ID 647217
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 067876-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R8387 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 49050843-49051781 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49051497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 219 (S219P)
Ref Sequence ENSEMBL: ENSMUSP00000149520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046522] [ENSMUST00000052668] [ENSMUST00000216273]
AlphaFold Q8VET2
Predicted Effect probably benign
Transcript: ENSMUST00000046522
SMART Domains Protein: ENSMUSP00000046229
Gene: ENSMUSG00000040283

DomainStartEndE-ValueType
IG 44 151 1.24e-8 SMART
Pfam:Ig_2 155 243 9.2e-3 PFAM
Pfam:C2-set_2 156 238 1.7e-9 PFAM
transmembrane domain 259 281 N/A INTRINSIC
PRY 324 377 8.68e-14 SMART
SPRY 378 503 1.3e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000052668
AA Change: S219P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063062
Gene: ENSMUSG00000048378
AA Change: S219P

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000216273
AA Change: S219P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (46/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b G A 5: 8,874,698 (GRCm39) D453N probably damaging Het
Arl14ep T C 2: 106,799,562 (GRCm39) D93G probably damaging Het
Bcl7b T C 5: 135,197,413 (GRCm39) I18T probably damaging Het
Cdh1 A G 8: 107,390,501 (GRCm39) I614V probably benign Het
Cpa3 T C 3: 20,281,400 (GRCm39) I169V probably benign Het
Cpeb4 T C 11: 31,858,877 (GRCm39) probably null Het
Csmd1 G A 8: 16,050,484 (GRCm39) H2251Y possibly damaging Het
Dab2ip T A 2: 35,609,870 (GRCm39) I695K probably damaging Het
Dhtkd1 C A 2: 5,934,479 (GRCm39) L230F possibly damaging Het
Emc1 T C 4: 139,088,600 (GRCm39) S353P probably benign Het
Erc2 T A 14: 27,375,253 (GRCm39) L157Q possibly damaging Het
Flvcr1 A G 1: 190,743,731 (GRCm39) probably null Het
Fryl A C 5: 73,293,663 (GRCm39) probably null Het
Gnl2 T C 4: 124,949,127 (GRCm39) *729Q probably null Het
Gpr63 G A 4: 25,008,301 (GRCm39) V342M possibly damaging Het
Guf1 C T 5: 69,723,810 (GRCm39) P463L probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Ifngr2 T C 16: 91,358,535 (GRCm39) L245P probably damaging Het
Igsf10 A G 3: 59,236,564 (GRCm39) F1206L probably damaging Het
Ktn1 T A 14: 47,944,744 (GRCm39) probably null Het
Lekr1 A G 3: 65,591,520 (GRCm39) K86E possibly damaging Het
Lrrc3 C T 10: 77,737,346 (GRCm39) G30D possibly damaging Het
Mapk8ip2 T C 15: 89,344,897 (GRCm39) F765L probably damaging Het
Myo6 A G 9: 80,183,632 (GRCm39) T676A unknown Het
Nr4a1 T C 15: 101,171,053 (GRCm39) S510P probably damaging Het
Or4c113 T C 2: 88,885,646 (GRCm39) I41M probably benign Het
Or4c11c G A 2: 88,661,633 (GRCm39) M57I possibly damaging Het
Or51e1 C T 7: 102,359,402 (GRCm39) T312I probably benign Het
Or5a1 A G 19: 12,097,785 (GRCm39) L97P probably damaging Het
Pdcd1 G A 1: 93,969,193 (GRCm39) L42F probably damaging Het
Pdzd7 T C 19: 45,018,490 (GRCm39) D621G probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pias4 G A 10: 80,990,342 (GRCm39) R398C probably benign Het
Plekha6 A T 1: 133,219,893 (GRCm39) probably null Het
Prkag3 A G 1: 74,784,854 (GRCm39) probably null Het
Ptpn7 A G 1: 135,061,606 (GRCm39) T23A probably benign Het
Ptprd T C 4: 75,873,526 (GRCm39) D1069G probably damaging Het
Ptprr A G 10: 116,087,030 (GRCm39) Y503C probably damaging Het
Slc26a8 T C 17: 28,866,899 (GRCm39) D610G probably benign Het
Smyd4 A G 11: 75,292,984 (GRCm39) N638S probably benign Het
Tenm3 A G 8: 48,740,883 (GRCm39) F1200S probably damaging Het
Tox3 A G 8: 90,984,595 (GRCm39) S195P probably benign Het
Trim44 T C 2: 102,230,518 (GRCm39) E171G probably damaging Het
Vars1 T A 17: 35,229,490 (GRCm39) M369K probably damaging Het
Vmn2r77 C A 7: 86,450,947 (GRCm39) Q278K probably benign Het
Zfp345 T C 2: 150,314,740 (GRCm39) T266A 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
R6999:Or2o1 UTSW 11 49,051,239 (GRCm39) missense possibly damaging 0.53
R8077:Or2o1 UTSW 11 49,051,312 (GRCm39) missense probably damaging 1.00
R8266:Or2o1 UTSW 11 49,051,352 (GRCm39) nonsense probably null
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
(F):5'- AAGGCCTGCTCTTTCTTGGC -3'
(R):5'- GAAGATGGAGGTGGCTCTATCC -3'

Sequencing Primer
(F):5'- CATGGCAGACAGTGTGATTG -3'
(R):5'- ATCCCCCAGTGGTGTTCTAG -3'
Posted On 2020-09-02