Incidental Mutation 'IGL02270:Olfr2'
ID287103
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr2
Ensembl Gene ENSMUSG00000070417
Gene Nameolfactory receptor 2
SynonymsMOR103-15, I7, I54, Olfr41, GA_x6K02T2PBJ9-9381439-9380456
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.347) question?
Stock #IGL02270
Quality Score
Status
Chromosome7
Chromosomal Location106995399-107006072 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 107001423 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 146 (C146S)
Ref Sequence ENSEMBL: ENSMUSP00000150093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094109] [ENSMUST00000207280] [ENSMUST00000208147] [ENSMUST00000211432] [ENSMUST00000214105] [ENSMUST00000216375]
Predicted Effect probably damaging
Transcript: ENSMUST00000094109
AA Change: C146S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091656
Gene: ENSMUSG00000070417
AA Change: C146S

DomainStartEndE-ValueType
Pfam:7tm_4 31 313 9.2e-53 PFAM
Pfam:7tm_1 42 295 3e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207280
AA Change: C146S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208147
AA Change: C146S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211432
AA Change: C146S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214105
AA Change: C146S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216375
AA Change: C146S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217764
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,559,195 probably null Het
Bmi1 T A 2: 18,684,458 S318T probably benign Het
Cntnap5c G A 17: 58,034,853 V180I probably benign Het
Cyp2b10 A G 7: 25,913,937 E186G probably damaging Het
Ddx25 G T 9: 35,554,412 probably benign Het
Dis3 A G 14: 99,078,354 F901L probably benign Het
Dnah7a T A 1: 53,472,893 N3003I possibly damaging Het
Ebf2 A G 14: 67,238,953 D124G probably damaging Het
Efcab5 A T 11: 77,104,313 I1144N probably damaging Het
Exoc4 G A 6: 33,580,026 V489I possibly damaging Het
Garem1 A G 18: 21,148,450 V283A probably damaging Het
Gfra2 G A 14: 70,925,907 R210H possibly damaging Het
Gli3 T C 13: 15,726,786 probably benign Het
Gm7247 A T 14: 51,521,884 M107L probably benign Het
Map2k5 A T 9: 63,322,197 probably null Het
Mki67 C T 7: 135,698,632 D1558N probably damaging Het
Mylk4 A G 13: 32,729,066 probably benign Het
Olfr1 A G 11: 73,395,365 V219A probably benign Het
Olfr112 G T 17: 37,563,580 H244N possibly damaging Het
Olfr669 A G 7: 104,939,369 N281S possibly damaging Het
Plcd1 T C 9: 119,084,641 T50A probably damaging Het
Rasgrp3 A G 17: 75,516,373 R480G probably benign Het
Ripor3 T C 2: 167,993,496 E185G probably damaging Het
S1pr3 T C 13: 51,419,056 I91T probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc28a3 T C 13: 58,580,584 T104A probably benign Het
Slc6a11 A G 6: 114,238,396 D419G probably damaging Het
St3gal2 A G 8: 110,957,766 I19V probably benign Het
Sycp1 C A 3: 102,895,943 C517F probably benign Het
Trav15-1-dv6-1 G A 14: 53,559,998 E35K possibly damaging Het
Vmn1r121 T C 7: 21,098,476 E13G probably damaging Het
Vmn1r199 T A 13: 22,383,006 S114T probably damaging Het
Vmn2r-ps159 T C 4: 156,334,655 noncoding transcript Het
Other mutations in Olfr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02620:Olfr2 APN 7 107001618 nonsense probably null
IGL02942:Olfr2 APN 7 107001354 missense possibly damaging 0.88
R1171:Olfr2 UTSW 7 107001584 missense probably benign
R1956:Olfr2 UTSW 7 107001135 missense probably damaging 1.00
R2128:Olfr2 UTSW 7 107001248 missense probably damaging 1.00
R2342:Olfr2 UTSW 7 107000909 missense probably benign
R2351:Olfr2 UTSW 7 107001676 nonsense probably null
R3752:Olfr2 UTSW 7 107001475 nonsense probably null
R4197:Olfr2 UTSW 7 107001038 missense probably damaging 0.97
R4237:Olfr2 UTSW 7 107001329 missense probably damaging 1.00
R4787:Olfr2 UTSW 7 107001086 missense probably benign 0.00
R4795:Olfr2 UTSW 7 107001335 missense probably damaging 1.00
R4796:Olfr2 UTSW 7 107001335 missense probably damaging 1.00
R5268:Olfr2 UTSW 7 107000904 missense probably benign 0.00
R5412:Olfr2 UTSW 7 107001635 missense probably damaging 0.99
R5474:Olfr2 UTSW 7 107001089 missense probably damaging 0.98
R5542:Olfr2 UTSW 7 107001079 missense probably damaging 1.00
R5792:Olfr2 UTSW 7 107001443 missense possibly damaging 0.61
R6149:Olfr2 UTSW 7 107001600 missense probably benign
R7552:Olfr2 UTSW 7 107001327 missense probably benign
Posted On2015-04-16