Incidental Mutation 'IGL02901:Olfr120'
ID363584
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr120
Ensembl Gene ENSMUSG00000063994
Gene Nameolfactory receptor 120
SynonymsGA_x6K02T2PSCP-2184981-2185946, MOR263-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL02901
Quality Score
Status
Chromosome17
Chromosomal Location37721808-37727220 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 37726420 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 132 (I132K)
Ref Sequence ENSEMBL: ENSMUSP00000146861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077498] [ENSMUST00000207771]
Predicted Effect probably damaging
Transcript: ENSMUST00000077498
AA Change: I141K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094931
Gene: ENSMUSG00000063994
AA Change: I141K

DomainStartEndE-ValueType
Pfam:7tm_4 46 323 5.6e-59 PFAM
Pfam:7TM_GPCR_Srsx 50 320 1e-5 PFAM
Pfam:7tm_1 56 305 6e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207771
AA Change: I132K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A T 2: 131,561,604 Y189N probably damaging Het
Ahdc1 A G 4: 133,064,934 D1162G possibly damaging Het
Alpk2 A G 18: 65,306,411 M637T probably benign Het
Arvcf G A 16: 18,398,242 A440T probably damaging Het
BC051665 A T 13: 60,784,718 V51E probably damaging Het
Clca3a2 A T 3: 144,816,768 V164E probably damaging Het
Cox6a2 A C 7: 128,206,282 L5R probably damaging Het
Cpsf1 A T 15: 76,599,496 L849* probably null Het
Dclk1 A G 3: 55,487,787 probably benign Het
Fam120b T A 17: 15,407,702 probably benign Het
Iqub A G 6: 24,454,195 L563P probably damaging Het
Itgb3 A T 11: 104,637,946 I300F probably benign Het
Mdga2 A G 12: 66,797,809 probably benign Het
Mfsd6 A G 1: 52,708,473 I411T probably benign Het
Misp A T 10: 79,826,937 Y396F possibly damaging Het
Nhsl2 T A X: 102,079,243 V884D probably benign Het
Nxf7 A T X: 135,587,235 probably null Het
Olfr1271 G A 2: 90,265,708 H241Y probably damaging Het
Palld T A 8: 61,876,995 K283* probably null Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Proc T G 18: 32,123,625 T330P possibly damaging Het
Prpf38a T C 4: 108,568,418 D221G probably damaging Het
Prss55 T A 14: 64,077,127 N198I probably damaging Het
Rabggta A G 14: 55,721,681 S10P probably benign Het
Sbk2 A G 7: 4,957,290 Y294H possibly damaging Het
Smyd1 A G 6: 71,238,630 V115A probably benign Het
Trpm7 A G 2: 126,807,287 probably null Het
Ttc21a A G 9: 119,958,281 N751S probably damaging Het
Upk1a A T 7: 30,603,779 M241K possibly damaging Het
Vmn2r71 A C 7: 85,619,262 E224D probably benign Het
Vmn2r81 C T 10: 79,270,730 T514I probably damaging Het
Zkscan16 T C 4: 58,946,283 W53R probably damaging Het
Other mutations in Olfr120
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Olfr120 APN 17 37726302 missense probably benign 0.08
IGL01925:Olfr120 APN 17 37726111 missense probably benign 0.18
PIT4687001:Olfr120 UTSW 17 37726191 missense probably benign 0.01
R1645:Olfr120 UTSW 17 37726338 missense probably benign 0.01
R2218:Olfr120 UTSW 17 37726254 missense probably damaging 0.97
R2336:Olfr120 UTSW 17 37726798 missense probably benign 0.07
R4613:Olfr120 UTSW 17 37726696 missense probably damaging 1.00
R5237:Olfr120 UTSW 17 37726377 missense probably damaging 1.00
R5880:Olfr120 UTSW 17 37726654 missense probably benign 0.09
R6187:Olfr120 UTSW 17 37726141 missense probably damaging 0.99
Z1088:Olfr120 UTSW 17 37726092 missense probably damaging 1.00
Posted On2015-12-18