Incidental Mutation 'IGL01413:Or2i1'
ID 80153
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2i1
Ensembl Gene ENSMUSG00000043827
Gene Name olfactory receptor family 2 subfamily I member 1
Synonyms GA_x6K02T2PSCP-1637650-1636712, MOR256-32P, Olfr94
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL01413
Quality Score
Status
Chromosome 17
Chromosomal Location 37507697-37508857 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37508554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 102 (F102I)
Ref Sequence ENSEMBL: ENSMUSP00000055232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038844] [ENSMUST00000055324] [ENSMUST00000222190]
AlphaFold Q6UAH0
Predicted Effect probably benign
Transcript: ENSMUST00000038844
SMART Domains Protein: ENSMUSP00000035808
Gene: ENSMUSG00000035186

DomainStartEndE-ValueType
UBQ 5 76 8.61e-9 SMART
UBQ 88 158 9.23e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000055324
AA Change: F102I

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000055232
Gene: ENSMUSG00000043827
AA Change: F102I

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:7tm_4 105 382 6.5e-39 PFAM
Pfam:7TM_GPCR_Srsx 109 220 2.1e-9 PFAM
Pfam:7tm_1 115 365 3e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208047
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208837
Predicted Effect possibly damaging
Transcript: ENSMUST00000222190
AA Change: F27I

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa2 A T 18: 74,939,015 (GRCm39) probably benign Het
Adgrl1 T A 8: 84,656,486 (GRCm39) I268N probably damaging Het
Asic1 T A 15: 99,569,998 (GRCm39) N106K probably damaging Het
Ass1 A G 2: 31,366,934 (GRCm39) Y11C probably damaging Het
Cd44 T C 2: 102,644,632 (GRCm39) E448G probably damaging Het
Cdca2 A G 14: 67,915,343 (GRCm39) S639P probably damaging Het
Cfap221 T A 1: 119,912,801 (GRCm39) H91L possibly damaging Het
Cmtr1 T C 17: 29,916,956 (GRCm39) S618P probably benign Het
Cnga4 A T 7: 105,054,169 (GRCm39) M46L probably benign Het
Col4a4 C T 1: 82,448,969 (GRCm39) G1207E unknown Het
Cracdl G A 1: 37,651,387 (GRCm39) A1160V possibly damaging Het
Cthrc1 T A 15: 38,943,894 (GRCm39) L58Q possibly damaging Het
Cyb561a3 T A 19: 10,562,610 (GRCm39) H83Q probably damaging Het
Dlgap1 C A 17: 70,823,069 (GRCm39) A18E probably benign Het
Dnah2 G A 11: 69,323,790 (GRCm39) L3707F probably damaging Het
Dnai7 A T 6: 145,120,812 (GRCm39) M669K probably damaging Het
Duox1 A G 2: 122,151,191 (GRCm39) N289D probably benign Het
Fbrsl1 T A 5: 110,526,114 (GRCm39) E443D probably damaging Het
Fgfr1 T A 8: 26,052,239 (GRCm39) C288* probably null Het
Gabbr1 A G 17: 37,373,598 (GRCm39) N498S possibly damaging Het
Gja10 T C 4: 32,602,070 (GRCm39) K105E probably damaging Het
Glra4 C T X: 135,663,493 (GRCm39) R352H probably benign Het
Gm19402 G T 10: 77,526,323 (GRCm39) probably benign Het
Hadha T A 5: 30,346,025 (GRCm39) M200L probably benign Het
Hoxc9 T A 15: 102,892,432 (GRCm39) M215K probably damaging Het
Huwe1 A T X: 150,665,676 (GRCm39) Q1231L possibly damaging Het
Ifi214 T A 1: 173,356,995 (GRCm39) N36I probably damaging Het
Il17ra A G 6: 120,452,542 (GRCm39) N242D probably benign Het
Il1rl1 A T 1: 40,485,329 (GRCm39) K260N possibly damaging Het
Lhx6 C A 2: 35,993,528 (GRCm39) A57S probably benign Het
Mdh2 T A 5: 135,814,879 (GRCm39) I116N probably damaging Het
Met T C 6: 17,558,895 (GRCm39) probably benign Het
Mgam A G 6: 40,638,211 (GRCm39) D387G probably damaging Het
Myo3a T C 2: 22,302,411 (GRCm39) S287P probably benign Het
Nol8 T G 13: 49,813,428 (GRCm39) N140K possibly damaging Het
Nrap C A 19: 56,377,823 (GRCm39) A56S probably damaging Het
Nuggc A G 14: 65,876,030 (GRCm39) T548A probably benign Het
Or10j2 T A 1: 173,098,275 (GRCm39) C178S probably damaging Het
Pcdh11x A G X: 119,309,282 (GRCm39) T242A probably benign Het
Pcdhb8 A G 18: 37,489,029 (GRCm39) N236D probably damaging Het
Pdzph1 T C 17: 59,186,147 (GRCm39) I1215V possibly damaging Het
Plekha8 C T 6: 54,599,261 (GRCm39) T265I probably benign Het
Pou4f2 T A 8: 79,161,734 (GRCm39) I290F probably damaging Het
Pramel22 A T 4: 143,381,887 (GRCm39) F270I probably benign Het
Ptpn3 G A 4: 57,270,156 (GRCm39) T2I probably damaging Het
Rab28 A T 5: 41,855,790 (GRCm39) D68E probably damaging Het
Rbl1 T C 2: 156,994,812 (GRCm39) probably null Het
Samd4 A G 14: 47,254,249 (GRCm39) T137A probably benign Het
Serpinb1b T G 13: 33,277,842 (GRCm39) D358E probably damaging Het
Serpinb9c G A 13: 33,335,787 (GRCm39) L222F probably damaging Het
Slc24a3 A G 2: 145,482,169 (GRCm39) D609G probably damaging Het
Slc25a40 A C 5: 8,503,298 (GRCm39) *338Y probably null Het
Spef2 T A 15: 9,676,376 (GRCm39) I732L probably benign Het
Srrm2 T C 17: 24,034,999 (GRCm39) probably benign Het
Ssxb13 A G X: 8,615,692 (GRCm39) E75G probably benign Het
Stmnd1 A T 13: 46,453,157 (GRCm39) I278L probably benign Het
Strap C A 6: 137,722,502 (GRCm39) probably benign Het
Supt16 C T 14: 52,414,489 (GRCm39) E438K probably benign Het
Tcf4 A C 18: 69,788,090 (GRCm39) E160D probably damaging Het
Themis3 A G 17: 66,863,092 (GRCm39) Y289H probably benign Het
Tmem87a T C 2: 120,216,351 (GRCm39) T180A probably benign Het
Trappc10 A G 10: 78,033,678 (GRCm39) V963A possibly damaging Het
Trav19 G T 14: 54,083,072 (GRCm39) C49F probably damaging Het
Trim30c A G 7: 104,031,541 (GRCm39) S425P possibly damaging Het
Ubap1 A T 4: 41,387,333 (GRCm39) R414S probably benign Het
Usp9x A G X: 13,017,579 (GRCm39) S1696G probably benign Het
Vipas39 G A 12: 87,296,171 (GRCm39) T274I probably benign Het
Vmn1r185 A T 7: 26,311,046 (GRCm39) V153E probably damaging Het
Vmn2r124 A G 17: 18,282,827 (GRCm39) T174A probably benign Het
Wdr59 T A 8: 112,227,706 (GRCm39) S124C probably benign Het
Xirp2 A T 2: 67,340,270 (GRCm39) D837V probably damaging Het
Zfp185 A G X: 72,061,997 (GRCm39) D403G possibly damaging Het
Zfp516 A T 18: 83,005,795 (GRCm39) K900* probably null Het
Other mutations in Or2i1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Or2i1 APN 17 37,507,833 (GRCm39) missense probably benign 0.03
ANU23:Or2i1 UTSW 17 37,507,833 (GRCm39) missense probably benign 0.03
R1822:Or2i1 UTSW 17 37,507,722 (GRCm39) unclassified probably benign
R4731:Or2i1 UTSW 17 37,507,915 (GRCm39) missense probably damaging 0.98
R4732:Or2i1 UTSW 17 37,507,915 (GRCm39) missense probably damaging 0.98
R4733:Or2i1 UTSW 17 37,507,915 (GRCm39) missense probably damaging 0.98
R5897:Or2i1 UTSW 17 37,508,151 (GRCm39) missense probably damaging 1.00
R7894:Or2i1 UTSW 17 37,508,047 (GRCm39) missense probably damaging 1.00
R8716:Or2i1 UTSW 17 37,508,299 (GRCm39) missense possibly damaging 0.93
R8928:Or2i1 UTSW 17 37,507,861 (GRCm39) missense probably damaging 0.99
R9021:Or2i1 UTSW 17 37,508,380 (GRCm39) missense possibly damaging 0.88
R9594:Or2i1 UTSW 17 37,508,308 (GRCm39) missense possibly damaging 0.86
Posted On 2013-11-05