Incidental Mutation 'IGL03029:Or1i2'
ID 408333
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or1i2
Ensembl Gene ENSMUSG00000071185
Gene Name olfactory receptor family 1 subfamily I member 1
Synonyms GA_x6K02T2QGN0-3196801-3197742, MOR128-3, MOR128-4, Olfr1357
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # IGL03029
Quality Score
Status
Chromosome 10
Chromosomal Location 78447503-78453908 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78447792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 228 (I228F)
Ref Sequence ENSEMBL: ENSMUSP00000150167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095473] [ENSMUST00000203305] [ENSMUST00000205085] [ENSMUST00000213877]
AlphaFold Q7TQU7
Predicted Effect probably benign
Transcript: ENSMUST00000095473
AA Change: I228F

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000093127
Gene: ENSMUSG00000071185
AA Change: I228F

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.7e-50 PFAM
Pfam:7TM_GPCR_Srsx 35 215 2e-11 PFAM
Pfam:7tm_1 41 290 2.6e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203305
AA Change: I228F

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000145032
Gene: ENSMUSG00000071185
AA Change: I228F

DomainStartEndE-ValueType
Pfam:7tm_4 31 235 1.3e-36 PFAM
Pfam:7TM_GPCR_Srsx 35 215 7.7e-11 PFAM
Pfam:7tm_1 41 234 3.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205085
AA Change: I228F

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000145185
Gene: ENSMUSG00000071185
AA Change: I228F

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.7e-50 PFAM
Pfam:7TM_GPCR_Srsx 35 215 2e-11 PFAM
Pfam:7tm_1 41 290 2.6e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213877
AA Change: I228F

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
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
Acy1 T A 9: 106,312,314 (GRCm39) D213V probably damaging Het
Akap6 T C 12: 52,933,195 (GRCm39) L229P probably damaging Het
Ankrd10 A T 8: 11,669,304 (GRCm39) probably null Het
Arfgap3 C T 15: 83,206,851 (GRCm39) E246K probably damaging Het
Cadps G T 14: 12,376,675 (GRCm38) T1274K probably damaging Het
Cd46 T C 1: 194,768,451 (GRCm39) T89A probably benign Het
Cylc1 A C X: 110,156,944 (GRCm39) probably benign Het
Dach2 T A X: 112,724,833 (GRCm39) L492* probably null Het
Dlc1 T C 8: 37,038,416 (GRCm39) probably null Het
Fanci T C 7: 79,093,747 (GRCm39) V1033A probably benign Het
Fat4 T C 3: 39,036,740 (GRCm39) I3464T possibly damaging Het
Fus A G 7: 127,584,712 (GRCm39) probably benign Het
Garin5b G T 7: 4,760,839 (GRCm39) N624K possibly damaging Het
Hectd3 G T 4: 116,854,162 (GRCm39) E271* probably null Het
Herc2 T C 7: 55,818,715 (GRCm39) L2802P probably damaging Het
Hk2 G A 6: 82,715,314 (GRCm39) R407C probably damaging Het
Josd2 T C 7: 44,120,601 (GRCm39) S71P probably damaging Het
Kif20b A G 19: 34,928,313 (GRCm39) T1152A probably benign Het
Myo15b G A 11: 115,762,469 (GRCm39) V1229I probably benign Het
Nup188 T C 2: 30,212,592 (GRCm39) probably benign Het
Pank1 T A 19: 34,798,535 (GRCm39) I476F probably damaging Het
Pdcd6 A G 13: 74,457,899 (GRCm39) Y91H probably damaging Het
Pik3r3 T G 4: 116,156,998 (GRCm39) V393G probably damaging Het
Poglut3 T C 9: 53,295,588 (GRCm39) probably null Het
Prx C T 7: 27,207,486 (GRCm39) R48* probably null Het
Rbm5 A G 9: 107,631,652 (GRCm39) S222P possibly damaging Het
Rev3l T A 10: 39,704,482 (GRCm39) I302N probably benign Het
Rnf139 T C 15: 58,770,967 (GRCm39) F331L probably damaging Het
Shisa4 G T 1: 135,300,914 (GRCm39) Q119K probably damaging Het
Shisa6 T A 11: 66,108,839 (GRCm39) E346V probably damaging Het
Slc6a3 A T 13: 73,686,816 (GRCm39) E61V probably damaging Het
Slc9a7 T A X: 20,157,608 (GRCm39) M106L probably benign Het
Srek1 A G 13: 103,900,468 (GRCm39) probably benign Het
Strc G A 2: 121,194,525 (GRCm39) L1788F possibly damaging Het
Styk1 T C 6: 131,277,523 (GRCm39) S284G probably benign Het
Top2a T A 11: 98,909,625 (GRCm39) T158S probably benign Het
Vangl1 C T 3: 102,091,400 (GRCm39) V229M probably damaging Het
Vsig1 A G X: 139,827,261 (GRCm39) T137A possibly damaging Het
Other mutations in Or1i2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01609:Or1i2 APN 10 78,447,960 (GRCm39) missense probably benign 0.02
IGL02201:Or1i2 APN 10 78,448,104 (GRCm39) missense probably damaging 0.96
IGL03094:Or1i2 APN 10 78,447,953 (GRCm39) missense possibly damaging 0.80
R0207:Or1i2 UTSW 10 78,447,705 (GRCm39) missense probably benign
R0563:Or1i2 UTSW 10 78,448,467 (GRCm39) missense probably benign
R0745:Or1i2 UTSW 10 78,447,956 (GRCm39) missense probably benign 0.02
R1607:Or1i2 UTSW 10 78,447,974 (GRCm39) missense probably benign 0.08
R2419:Or1i2 UTSW 10 78,448,221 (GRCm39) missense probably benign 0.34
R4198:Or1i2 UTSW 10 78,447,901 (GRCm39) missense possibly damaging 0.69
R4199:Or1i2 UTSW 10 78,447,901 (GRCm39) missense possibly damaging 0.69
R4200:Or1i2 UTSW 10 78,447,901 (GRCm39) missense possibly damaging 0.69
R4619:Or1i2 UTSW 10 78,448,409 (GRCm39) missense probably benign
R6152:Or1i2 UTSW 10 78,448,409 (GRCm39) missense probably benign
R6836:Or1i2 UTSW 10 78,448,424 (GRCm39) missense probably damaging 1.00
R6843:Or1i2 UTSW 10 78,447,891 (GRCm39) missense probably damaging 1.00
R7266:Or1i2 UTSW 10 78,448,448 (GRCm39) missense probably benign 0.07
R8104:Or1i2 UTSW 10 78,448,242 (GRCm39) missense probably benign 0.29
R8765:Or1i2 UTSW 10 78,448,429 (GRCm39) missense probably benign 0.01
R8795:Or1i2 UTSW 10 78,447,698 (GRCm39) missense probably damaging 1.00
R8806:Or1i2 UTSW 10 78,447,974 (GRCm39) missense probably benign 0.08
R8842:Or1i2 UTSW 10 78,447,635 (GRCm39) missense possibly damaging 0.95
R9640:Or1i2 UTSW 10 78,448,311 (GRCm39) missense probably damaging 1.00
R9678:Or1i2 UTSW 10 78,447,717 (GRCm39) missense probably damaging 1.00
Z1176:Or1i2 UTSW 10 78,447,890 (GRCm39) missense probably damaging 1.00
Z1177:Or1i2 UTSW 10 78,447,985 (GRCm39) missense probably benign 0.40
Posted On 2016-08-02