Incidental Mutation 'R0563:Or1i2'
ID 46019
Institutional Source Beutler Lab
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
MMRRC Submission 038754-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R0563 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 78447503-78453908 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 78448467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 3 (P3S)
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: P3S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093127
Gene: ENSMUSG00000071185
AA Change: P3S

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: P3S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000145032
Gene: ENSMUSG00000071185
AA Change: P3S

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: P3S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000145185
Gene: ENSMUSG00000071185
AA Change: P3S

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: P3S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.1845 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 98% (52/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 G T 1: 25,586,635 (GRCm39) P146T probably damaging Het
Ambn A C 5: 88,611,309 (GRCm39) N163T probably benign Het
Ankrd36 A T 11: 5,579,322 (GRCm39) E870D probably benign Het
Cdc123 T C 2: 5,803,212 (GRCm39) N269S probably benign Het
Cdc7 A T 5: 107,120,776 (GRCm39) probably benign Het
Cdh2 A T 18: 16,762,738 (GRCm39) V402D possibly damaging Het
Cwc27 C A 13: 104,797,865 (GRCm39) E365* probably null Het
Dcdc5 G A 2: 106,180,035 (GRCm39) noncoding transcript Het
Eif4g3 T C 4: 137,903,151 (GRCm39) probably benign Het
Elovl4 C T 9: 83,667,087 (GRCm39) probably null Het
Fhl5 T G 4: 25,213,610 (GRCm39) I109L probably damaging Het
Gm16181 A G 17: 35,442,872 (GRCm39) probably benign Het
Gna14 A G 19: 16,585,483 (GRCm39) Y287C probably benign Het
Greb1 A T 12: 16,730,268 (GRCm39) C1720S probably benign Het
Gypa T A 8: 81,236,089 (GRCm39) S165T probably benign Het
Hephl1 T C 9: 14,993,241 (GRCm39) D531G probably damaging Het
Hsf2bp A T 17: 32,226,692 (GRCm39) L221Q probably damaging Het
Itsn1 A G 16: 91,617,684 (GRCm39) probably benign Het
Kif7 T C 7: 79,352,020 (GRCm39) E914G probably benign Het
Lrp1b T C 2: 40,640,926 (GRCm39) D3506G probably benign Het
Lrrc28 T C 7: 67,195,135 (GRCm39) N225S probably damaging Het
Lysmd4 T A 7: 66,875,925 (GRCm39) L196Q probably benign Het
Megf8 T C 7: 25,041,820 (GRCm39) C1245R probably damaging Het
Mgat4f A G 1: 134,317,777 (GRCm39) K183R probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mindy2 T A 9: 70,538,334 (GRCm39) I334L possibly damaging Het
Mrm1 A G 11: 84,705,539 (GRCm39) S287P probably damaging Het
Ncor1 A G 11: 62,234,056 (GRCm39) I382T probably damaging Het
Nectin1 A G 9: 43,702,342 (GRCm39) T30A probably benign Het
Nelfe A G 17: 35,073,215 (GRCm39) E250G possibly damaging Het
Nsd1 C A 13: 55,394,391 (GRCm39) T767K possibly damaging Het
Or1j18 A T 2: 36,625,013 (GRCm39) K227* probably null Het
Or4e5 T A 14: 52,727,714 (GRCm39) K236* probably null Het
Or5b111 A G 19: 13,291,112 (GRCm39) I179T probably benign Het
Pcnx1 A G 12: 81,964,718 (GRCm39) D295G probably damaging Het
Pex14 A G 4: 149,046,003 (GRCm39) V309A possibly damaging Het
Phf14 C T 6: 11,933,600 (GRCm39) probably benign Het
Pnpla6 A G 8: 3,573,333 (GRCm39) D399G possibly damaging Het
Prim1 A G 10: 127,862,423 (GRCm39) D340G probably damaging Het
Rb1 A G 14: 73,454,207 (GRCm39) F564L probably damaging Het
Rcc1l G C 5: 134,205,394 (GRCm39) R54G probably benign Het
Rnf151 G A 17: 24,936,430 (GRCm39) probably benign Het
Rnf40 T C 7: 127,192,048 (GRCm39) L398P probably damaging Het
Robo1 C T 16: 72,769,174 (GRCm39) T531I probably benign Het
Rps6ka2 A T 17: 7,521,836 (GRCm39) I198F probably damaging Het
Sgk2 T C 2: 162,846,164 (GRCm39) L264P probably damaging Het
Slc26a6 T A 9: 108,734,869 (GRCm39) I281N probably damaging Het
Tnxb A T 17: 34,935,921 (GRCm39) K2657N probably benign Het
Tor1aip1 G A 1: 155,911,554 (GRCm39) T143M probably damaging Het
Tpr A G 1: 150,284,609 (GRCm39) D358G probably benign Het
Vstm2b T C 7: 40,551,899 (GRCm39) S76P probably damaging Het
Wdr33 A G 18: 32,019,792 (GRCm39) K488R possibly damaging Het
Ythdc2 T A 18: 44,997,915 (GRCm39) probably benign 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
IGL03029:Or1i2 APN 10 78,447,792 (GRCm39) missense probably benign 0.14
IGL03094:Or1i2 APN 10 78,447,953 (GRCm39) missense possibly damaging 0.80
R0207:Or1i2 UTSW 10 78,447,705 (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
Predicted Primers PCR Primer
(F):5'- CAGCCTGTGAAAGAGATAGCTCTGC -3'
(R):5'- CTTGGAGAACATGAAAACCACTGGAGAT -3'

Sequencing Primer
(F):5'- GTTCACTAGCATCTTGGGAACAG -3'
(R):5'- TGAAAACCACTGGAGATAGCTTAAAG -3'
Posted On 2013-06-11