Incidental Mutation 'ANU23:Or2i1'
ID 262666
Institutional Source Beutler Lab
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: 0.076) question?
Stock # ANU23
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 37507697-37508857 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37507833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 342 (N342S)
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 probably benign
Transcript: ENSMUST00000055324
AA Change: N342S

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000055232
Gene: ENSMUSG00000043827
AA Change: N342S

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 probably benign
Transcript: ENSMUST00000222190
AA Change: N267S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 98.2%
  • 10x: 96.6%
  • 20x: 93.8%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b G A 12: 70,215,822 (GRCm39) G88S probably damaging Het
Acot10 A G 15: 20,666,051 (GRCm39) F230S probably benign Het
Akap12 G T 10: 4,303,273 (GRCm39) A28S probably benign Het
Anks1 C A 17: 28,205,227 (GRCm39) T262K probably damaging Het
Arfgap3 A G 15: 83,197,710 (GRCm39) Y349H possibly damaging Het
Cacna1g G A 11: 94,357,054 (GRCm39) probably benign Het
Camsap2 T A 1: 136,225,528 (GRCm39) E199D probably benign Het
Ccdc13 A T 9: 121,656,429 (GRCm39) M128K probably benign Het
Ccdc38 T C 10: 93,405,797 (GRCm39) probably null Het
Cep95 G A 11: 106,704,641 (GRCm39) V499I probably benign Het
Cpne6 G C 14: 55,749,459 (GRCm39) M6I probably benign Het
Cpne6 A T 14: 55,752,706 (GRCm39) I299F probably damaging Het
Cse1l T A 2: 166,769,428 (GRCm39) Y278* probably null Het
Dip2c A G 13: 9,625,179 (GRCm39) N558D possibly damaging Het
Edar A T 10: 58,464,460 (GRCm39) C60S probably damaging Het
Fat2 T C 11: 55,201,698 (GRCm39) N459D probably benign Het
Fbxw8 C T 5: 118,251,785 (GRCm39) V243M possibly damaging Het
Fem1b G A 9: 62,704,810 (GRCm39) A150V possibly damaging Het
Gm5422 A T 10: 31,125,432 (GRCm39) noncoding transcript Het
Gpatch3 CAGGAGGAGGAGGAGGAG CAGGAGGAGGAGGAG 4: 133,305,613 (GRCm39) probably benign Het
Grin2c T C 11: 115,147,020 (GRCm39) T392A probably benign Het
Idh3a T A 9: 54,493,829 (GRCm39) probably null Het
Itpk1 T C 12: 102,572,362 (GRCm39) E117G probably damaging Het
Kif12 G T 4: 63,084,121 (GRCm39) P627Q probably damaging Het
Krtap15-1 T A 16: 88,626,255 (GRCm39) F88L probably benign Het
Mcm7 C T 5: 138,168,653 (GRCm39) V13I probably benign Het
Mlh1 T C 9: 111,081,980 (GRCm39) N248D possibly damaging Het
Or4k15 A G 14: 50,364,039 (GRCm39) N2D probably benign Het
Or52z12 T C 7: 103,233,900 (GRCm39) Y224H probably damaging Het
Per2 T C 1: 91,376,555 (GRCm39) H106R probably damaging Het
Pfkl T A 10: 77,827,229 (GRCm39) T486S probably benign Het
Prkdc T C 16: 15,485,595 (GRCm39) V474A possibly damaging Het
Scamp4 C A 10: 80,445,256 (GRCm39) Q34K probably damaging Het
Serpinb3b A G 1: 107,082,395 (GRCm39) Y290H probably damaging Het
Sft2d2 G T 1: 165,011,564 (GRCm39) A110E probably benign Het
Siglecf T A 7: 43,001,377 (GRCm39) L115* probably null Het
Slc6a11 C T 6: 114,111,626 (GRCm39) T103M probably damaging Het
Slco1a1 T A 6: 141,892,313 (GRCm39) K18* probably null Het
Spata1 A T 3: 146,193,154 (GRCm39) Y112* probably null Het
Tbc1d32 G A 10: 56,056,620 (GRCm39) T440I probably benign Het
Vmn1r159 A G 7: 22,542,588 (GRCm39) V148A probably damaging Het
Wnt16 C T 6: 22,297,934 (GRCm39) R267C probably damaging Het
Xylt1 A C 7: 117,148,125 (GRCm39) S230R probably benign Het
Zfp334 T C 2: 165,223,017 (GRCm39) H342R probably damaging Het
Other mutations in Or2i1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Or2i1 APN 17 37,507,833 (GRCm39) missense probably benign 0.03
IGL01413:Or2i1 APN 17 37,508,554 (GRCm39) missense possibly damaging 0.75
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
Predicted Primers PCR Primer
(F):5'- GAGAGTCCCAAGAGCCATTTACCAC -3'
(R):5'- ACCATTTCATCTGCGAGTTGCCG -3'

Sequencing Primer
(F):5'- ATGAGCATCCTATTTCCAGGAC -3'
(R):5'- AGCGCCAGATGTTCGCC -3'
Posted On 2015-02-04