Incidental Mutation 'IGL02266:Olfr1054'
ID286900
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1054
Ensembl Gene ENSMUSG00000075190
Gene Nameolfactory receptor 1054
SynonymsGA_x6K02T2Q125-47811880-47810942, MOR188-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #IGL02266
Quality Score
Status
Chromosome2
Chromosomal Location86332135-86335433 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 86332979 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 126 (I126F)
Ref Sequence ENSEMBL: ENSMUSP00000150810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099895] [ENSMUST00000213205]
Predicted Effect probably damaging
Transcript: ENSMUST00000099895
AA Change: I126F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097480
Gene: ENSMUSG00000075190
AA Change: I126F

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2.8e-49 PFAM
Pfam:7tm_1 41 289 5.5e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122018
Predicted Effect probably damaging
Transcript: ENSMUST00000213205
AA Change: I126F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,268,201 Q1974* probably null Het
Actl11 G T 9: 107,931,183 V902L possibly damaging Het
Adam11 T C 11: 102,772,667 V274A probably damaging Het
Akr1b8 A G 6: 34,354,273 I15V probably benign Het
Chrm3 T A 13: 9,877,278 Q574L probably damaging Het
Crk C A 11: 75,679,589 R16S probably damaging Het
Ep400 T C 5: 110,695,297 probably benign Het
Eya1 T C 1: 14,184,501 N369S possibly damaging Het
Fam220a T C 5: 143,563,571 V246A possibly damaging Het
Fastkd5 A T 2: 130,615,561 F370I probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gpr75 A C 11: 30,891,977 Q294P probably benign Het
Hspg2 T C 4: 137,510,577 F204L probably damaging Het
Lrrc8c A C 5: 105,608,248 I630L probably benign Het
Narfl T A 17: 25,780,326 I238N possibly damaging Het
Nlrc4 T C 17: 74,446,167 D407G possibly damaging Het
Olfr1314 G A 2: 112,092,243 L153F probably benign Het
Pank1 A C 19: 34,813,686 probably benign Het
Pde3b A G 7: 114,526,966 T812A probably damaging Het
Phtf2 T G 5: 20,805,799 K63Q probably damaging Het
Pkhd1l1 A T 15: 44,573,614 H3456L probably damaging Het
Plcd1 A G 9: 119,074,787 probably benign Het
Ppip5k2 C T 1: 97,733,972 V734I possibly damaging Het
Ppp2r2d A G 7: 138,868,437 N38S probably damaging Het
Rnpepl1 T A 1: 92,916,889 W368R probably damaging Het
Sidt1 T C 16: 44,254,985 D670G possibly damaging Het
Slc12a2 T A 18: 57,912,020 probably benign Het
Tekt5 A T 16: 10,379,042 I315N probably benign Het
Trappc11 A C 8: 47,505,731 C42G probably damaging Het
Trerf1 C T 17: 47,315,405 noncoding transcript Het
Ubqlnl C A 7: 104,149,547 E248* probably null Het
Ulk4 G T 9: 121,081,700 T1086K probably benign Het
Unc45a A T 7: 80,328,486 D680E probably damaging Het
Vmn2r107 T C 17: 20,356,777 Y346H probably damaging Het
Vmn2r73 A G 7: 85,875,799 I47T possibly damaging Het
Zbtb9 T C 17: 26,974,155 V178A probably benign Het
Zc3hav1 A T 6: 38,332,168 M573K probably benign Het
Zfp608 T C 18: 54,897,581 T1096A probably benign Het
Other mutations in Olfr1054
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01331:Olfr1054 APN 2 86332704 nonsense probably null
IGL02398:Olfr1054 APN 2 86332524 nonsense probably null
IGL02535:Olfr1054 APN 2 86332675 missense probably damaging 1.00
IGL02590:Olfr1054 APN 2 86333000 missense possibly damaging 0.52
IGL02630:Olfr1054 APN 2 86332868 missense probably benign 0.39
PIT4151001:Olfr1054 UTSW 2 86332829 missense possibly damaging 0.60
R0520:Olfr1054 UTSW 2 86333131 missense probably damaging 1.00
R1079:Olfr1054 UTSW 2 86332841 missense probably damaging 0.96
R1887:Olfr1054 UTSW 2 86333273 missense possibly damaging 0.90
R2037:Olfr1054 UTSW 2 86332430 missense probably benign 0.03
R2120:Olfr1054 UTSW 2 86333345 missense probably benign 0.00
R2153:Olfr1054 UTSW 2 86332528 missense probably damaging 1.00
R4523:Olfr1054 UTSW 2 86333300 missense probably benign 0.12
R4836:Olfr1054 UTSW 2 86333227 missense probably benign 0.12
R6147:Olfr1054 UTSW 2 86332500 missense probably damaging 1.00
R6802:Olfr1054 UTSW 2 86333185 missense possibly damaging 0.91
R6886:Olfr1054 UTSW 2 86333064 nonsense probably null
R6894:Olfr1054 UTSW 2 86332951 missense probably damaging 1.00
R7275:Olfr1054 UTSW 2 86332792 missense possibly damaging 0.91
R7322:Olfr1054 UTSW 2 86332564 missense probably benign 0.14
R7325:Olfr1054 UTSW 2 86333000 missense possibly damaging 0.52
R7526:Olfr1054 UTSW 2 86333353 start codon destroyed probably null 1.00
R7976:Olfr1054 UTSW 2 86332720 missense probably benign 0.05
R8421:Olfr1054 UTSW 2 86332903 missense possibly damaging 0.80
R8838:Olfr1054 UTSW 2 86332973 missense possibly damaging 0.61
Z1176:Olfr1054 UTSW 2 86332706 missense probably damaging 1.00
Posted On2015-04-16