Incidental Mutation 'IGL02203:Olfr1020'
ID284386
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1020
Ensembl Gene ENSMUSG00000046975
Gene Nameolfactory receptor 1020
SynonymsMOR201-2, GA_x6K02T2Q125-47327964-47328917
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.115) question?
Stock #IGL02203
Quality Score
Status
Chromosome2
Chromosomal Location85847030-85851794 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 85850088 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Cysteine at position 212 (F212C)
Ref Sequence ENSEMBL: ENSMUSP00000150285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055840] [ENSMUST00000213515] [ENSMUST00000215347]
Predicted Effect probably damaging
Transcript: ENSMUST00000055840
AA Change: F212C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058242
Gene: ENSMUSG00000046975
AA Change: F212C

DomainStartEndE-ValueType
Pfam:7tm_4 38 315 5.6e-55 PFAM
Pfam:7tm_1 48 297 1.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213515
Predicted Effect probably damaging
Transcript: ENSMUST00000215347
AA Change: F212C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A C 3: 122,179,808 D1095A probably benign Het
Acmsd T C 1: 127,738,605 probably benign Het
Ap5m1 G A 14: 49,080,258 G324D probably damaging Het
Api5 T G 2: 94,425,074 N252T probably benign Het
Arhgap45 T A 10: 80,027,553 C743* probably null Het
Clpb A G 7: 101,779,337 T435A probably damaging Het
Csmd3 C T 15: 47,849,677 probably null Het
Cyp3a11 T G 5: 145,869,166 R130S probably damaging Het
Dennd4c A G 4: 86,802,936 T612A probably benign Het
Eng A G 2: 32,671,486 I170V probably benign Het
Fam69a A G 5: 107,911,781 L57S probably benign Het
Gfra2 T A 14: 70,967,084 M74K possibly damaging Het
Gpr137c A G 14: 45,277,487 T268A possibly damaging Het
Gramd3 T C 18: 56,478,954 probably null Het
Il13ra2 A G X: 147,383,673 L367P possibly damaging Het
Insr T C 8: 3,155,817 H1324R probably benign Het
Lgi3 A G 14: 70,534,518 E215G possibly damaging Het
Mst1r A G 9: 107,913,149 T654A possibly damaging Het
Mst1r A G 9: 107,907,869 Y242C probably damaging Het
Myo16 A T 8: 10,570,132 Q1561L possibly damaging Het
Obscn A C 11: 59,082,308 M2222R probably damaging Het
Olfr1337 A T 4: 118,782,429 V52D possibly damaging Het
Olfr62 A T 4: 118,666,182 I222F probably benign Het
Olfr705 A G 7: 106,714,630 I17T probably benign Het
Olfr914 A G 9: 38,607,423 probably benign Het
Plch1 G A 3: 63,698,739 P1239L possibly damaging Het
Ptprm A T 17: 66,953,123 I499K probably damaging Het
Rabep2 G T 7: 126,440,394 R331L possibly damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sema7a A G 9: 57,957,606 T397A probably benign Het
Sftpc A C 14: 70,521,869 M124R probably damaging Het
Slc25a38 A G 9: 120,120,812 Y198C probably damaging Het
Sppl2a A T 2: 126,904,941 M489K possibly damaging Het
Swt1 T A 1: 151,370,626 K849N probably benign Het
Ttc3 T A 16: 94,418,598 probably benign Het
Vmn2r63 A G 7: 42,904,008 V608A probably benign Het
Vwf A G 6: 125,642,406 Y1349C probably damaging Het
Ybx3 A G 6: 131,368,408 V265A probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Olfr1020
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0419:Olfr1020 UTSW 2 85849967 nonsense probably null
R0771:Olfr1020 UTSW 2 85849994 missense possibly damaging 0.95
R2001:Olfr1020 UTSW 2 85850400 missense probably benign 0.09
R2002:Olfr1020 UTSW 2 85850400 missense probably benign 0.09
R4865:Olfr1020 UTSW 2 85849716 missense probably damaging 1.00
R4930:Olfr1020 UTSW 2 85849893 missense probably benign 0.00
R6717:Olfr1020 UTSW 2 85850223 missense probably damaging 1.00
R7124:Olfr1020 UTSW 2 85849910 missense probably benign 0.22
R8068:Olfr1020 UTSW 2 85849806 missense probably damaging 1.00
R8298:Olfr1020 UTSW 2 85850189 missense probably damaging 1.00
Posted On2015-04-16