Incidental Mutation 'IGL02321:Or2o1'
ID 288246
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2o1
Ensembl Gene ENSMUSG00000048378
Gene Name olfactory receptor family 2 subfamily O member 1
Synonyms MOR280-1, Olfr1394, GA_x6K02T2QP88-6274566-6273628
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL02321
Quality Score
Status
Chromosome 11
Chromosomal Location 49050843-49051781 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 49051602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 254 (Y254D)
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: Y254D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063062
Gene: ENSMUSG00000048378
AA Change: Y254D

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: Y254D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 C T 8: 123,506,853 (GRCm39) R49C possibly damaging Het
Alg2 T C 4: 47,474,249 (GRCm39) Y13C probably benign Het
Apoa4 A G 9: 46,154,218 (GRCm39) D273G probably damaging Het
Axl C T 7: 25,458,194 (GRCm39) V854I probably damaging Het
Bicral A G 17: 47,122,873 (GRCm39) S673P probably benign Het
Camkk2 A G 5: 122,902,190 (GRCm39) S40P probably damaging Het
Ccdc39 A G 3: 33,871,107 (GRCm39) probably benign Het
Ccdc87 A G 19: 4,891,059 (GRCm39) E517G probably damaging Het
Cd22 A G 7: 30,569,308 (GRCm39) S603P probably damaging Het
Cdk5rap3 A T 11: 96,804,291 (GRCm39) C21S probably damaging Het
Chml G A 1: 175,519,900 (GRCm39) P68L possibly damaging Het
Cplane1 A G 15: 8,246,056 (GRCm39) E1476G probably benign Het
Cstdc6 A G 16: 36,143,388 (GRCm39) probably benign Het
Ephb3 T C 16: 21,033,139 (GRCm39) V41A probably damaging Het
Gm4781 T A 10: 100,232,752 (GRCm39) noncoding transcript Het
Hip1r A T 5: 124,137,953 (GRCm39) I760F probably damaging Het
Hyal5 T C 6: 24,891,614 (GRCm39) L476P probably benign Het
Isyna1 A G 8: 71,048,920 (GRCm39) N333S probably damaging Het
Kcnmb1 A T 11: 33,920,091 (GRCm39) probably benign Het
Mark4 T C 7: 19,160,314 (GRCm39) T649A probably benign Het
Mgat1 T C 11: 49,152,536 (GRCm39) F340L probably benign Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Mmaa T G 8: 80,000,759 (GRCm39) Y233S probably damaging Het
Ntsr1 G T 2: 180,180,627 (GRCm39) probably null Het
Orm2 T C 4: 63,281,229 (GRCm39) Y56H probably damaging Het
Pex26 C T 6: 121,170,468 (GRCm39) probably benign Het
Pik3r4 C T 9: 105,521,677 (GRCm39) A81V probably benign Het
Pramel32 A G 4: 88,548,340 (GRCm39) S22P probably benign Het
Prr14l G T 5: 32,985,151 (GRCm39) T1448K probably benign Het
Ralgapa2 A T 2: 146,254,736 (GRCm39) Y799* probably null Het
Ryr1 A C 7: 28,778,121 (GRCm39) L2132R probably damaging Het
Sec23b T C 2: 144,421,325 (GRCm39) probably null Het
Sirt5 C T 13: 43,533,164 (GRCm39) T164I probably damaging Het
Slc9c1 T C 16: 45,376,977 (GRCm39) V429A probably benign Het
Spen T C 4: 141,244,441 (GRCm39) D198G unknown Het
Syne2 A G 12: 75,965,773 (GRCm39) N832D possibly damaging Het
Traf7 C A 17: 24,732,020 (GRCm39) C193F possibly damaging Het
Vmn1r191 T A 13: 22,363,068 (GRCm39) R229* probably null Het
Vps53 C T 11: 75,939,364 (GRCm39) D680N possibly damaging Het
Wbp1l G T 19: 46,642,749 (GRCm39) G234V probably benign Het
Wdfy3 A T 5: 102,070,475 (GRCm39) S1098T probably damaging Het
Yod1 T A 1: 130,646,688 (GRCm39) D188E probably damaging Het
Zbtb25 T C 12: 76,396,907 (GRCm39) D105G 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
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
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
Posted On 2015-04-16