Incidental Mutation 'R1169:Or8b12i'
ID 101503
Institutional Source Beutler Lab
Gene Symbol Or8b12i
Ensembl Gene ENSMUSG00000066899
Gene Name olfactory receptor family 8 subfamily B member 12I
Synonyms GA_x6K02T2PVTD-13912679-13911744, MOR141-1, Olfr870
MMRRC Submission 039242-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R1169 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 20081930-20082865 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20082354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 171 (N171S)
Ref Sequence ENSEMBL: ENSMUSP00000150084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086476] [ENSMUST00000215984]
AlphaFold Q8VGG4
Predicted Effect probably benign
Transcript: ENSMUST00000086476
AA Change: N171S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000091405
Gene: ENSMUSG00000066899
AA Change: N171S

DomainStartEndE-ValueType
Pfam:7tm_4 31 311 1.8e-52 PFAM
Pfam:7TM_GPCR_Srsx 35 304 1.8e-7 PFAM
Pfam:7tm_1 41 290 3.9e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157618
Predicted Effect probably benign
Transcript: ENSMUST00000215984
AA Change: N171S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a T C 10: 80,419,781 (GRCm39) E275G probably damaging Het
Adam10 T A 9: 70,653,574 (GRCm39) I123N probably damaging Het
Adam8 A T 7: 139,563,842 (GRCm39) L715Q probably benign Het
Adcyap1r1 T A 6: 55,471,101 (GRCm39) F418L probably damaging Het
Ankrd50 A T 3: 38,508,401 (GRCm39) I1322K probably damaging Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
Atxn7 T C 14: 14,095,468 (GRCm38) S389P possibly damaging Het
C4b A T 17: 34,961,946 (GRCm39) L100Q probably benign Het
Cacul1 G A 19: 60,568,846 (GRCm39) A104V probably damaging Het
Camsap3 T C 8: 3,653,866 (GRCm39) F512S probably damaging Het
Casp1 T C 9: 5,299,454 (GRCm39) V61A possibly damaging Het
Cfap251 GGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGA 5: 123,392,673 (GRCm39) probably benign Het
Chd1 T A 17: 15,955,994 (GRCm39) F531Y probably damaging Het
Clec2h C T 6: 128,651,758 (GRCm39) Q156* probably null Het
Clip2 T A 5: 134,521,104 (GRCm39) E978V probably benign Het
Cnpy2 T G 10: 128,159,465 (GRCm39) L34R probably damaging Het
Cog6 A T 3: 52,921,265 (GRCm39) C114S probably benign Het
Col6a3 A T 1: 90,749,736 (GRCm39) V366E possibly damaging Het
Col6a5 A G 9: 105,774,173 (GRCm39) probably null Het
Cplx3 T C 9: 57,517,278 (GRCm39) T369A probably damaging Het
Dmbt1 G A 7: 130,676,254 (GRCm39) probably null Het
Dok1 A G 6: 83,009,029 (GRCm39) F218L possibly damaging Het
Dph7 T A 2: 24,856,583 (GRCm39) N178K probably benign Het
Enam A T 5: 88,651,117 (GRCm39) E800D probably damaging Het
Fads3 A T 19: 10,031,463 (GRCm39) Q205L possibly damaging Het
Fbxo44 T C 4: 148,240,433 (GRCm39) H265R probably benign Het
Gli1 T A 10: 127,174,320 (GRCm39) S24C probably damaging Het
Gm4894 T A 9: 49,185,526 (GRCm39) C43* probably null Het
Gpbp1l1 C T 4: 116,431,563 (GRCm39) H74Y possibly damaging Het
H2-Eb2 T A 17: 34,552,331 (GRCm39) F59I possibly damaging Het
Hspa14 T C 2: 3,499,161 (GRCm39) N211S possibly damaging Het
Ifnlr1 T G 4: 135,432,419 (GRCm39) F285C probably benign Het
Igf1r G T 7: 67,814,875 (GRCm39) V259L probably benign Het
Igf2bp2 A T 16: 21,897,480 (GRCm39) Y244* probably null Het
Ighg2c A T 12: 113,249,572 (GRCm39) probably benign Het
Ighv8-14 A T 12: 115,772,075 (GRCm39) probably null Het
Iqsec2 A G X: 150,927,727 (GRCm39) S87G probably benign Het
Itsn2 A G 12: 4,689,694 (GRCm39) K589R probably damaging Het
Khdc1a A C 1: 21,420,495 (GRCm39) E38D possibly damaging Het
Krt42 T G 11: 100,154,171 (GRCm39) probably null Het
Lpo T C 11: 87,708,143 (GRCm39) N183S possibly damaging Het
Lrrc3 T A 10: 77,736,764 (GRCm39) Y224F probably damaging Het
Ly6g6f T A 17: 35,302,240 (GRCm39) D99V probably damaging Het
Lyplal1 T C 1: 185,846,531 (GRCm39) I42V probably benign Het
Mis18bp1 G A 12: 65,190,057 (GRCm39) Q793* probably null Het
Myh10 T G 11: 68,653,667 (GRCm39) M346R probably damaging Het
Nav1 G T 1: 135,382,943 (GRCm39) H1256Q probably damaging Het
Nbea A G 3: 55,875,744 (GRCm39) V1642A probably benign Het
Or4d6 C T 19: 12,086,853 (GRCm39) R19H probably benign Het
Or8i2 A G 2: 86,852,061 (GRCm39) F276L probably damaging Het
Or8k28 A G 2: 86,285,931 (GRCm39) I228T possibly damaging Het
Orm3 G A 4: 63,276,085 (GRCm39) V166M probably damaging Het
Oxct1 T A 15: 4,120,708 (GRCm39) I264N probably damaging Het
Paox G A 7: 139,706,244 (GRCm39) V55I probably benign Het
Pde4d C A 13: 110,087,462 (GRCm39) probably null Het
Pnliprp1 A G 19: 58,723,383 (GRCm39) N258S probably damaging Het
Potegl A G 2: 23,146,994 (GRCm39) K275E possibly damaging Het
Prl7b1 C A 13: 27,790,887 (GRCm39) R66L possibly damaging Het
Ptpre G T 7: 135,269,341 (GRCm39) C261F probably benign Het
Rho C G 6: 115,909,199 (GRCm39) N78K probably damaging Het
Rnf17 A G 14: 56,751,622 (GRCm39) N1487D possibly damaging Het
Ryr3 G A 2: 112,563,359 (GRCm39) T2922I probably benign Het
Saxo2 A C 7: 82,284,379 (GRCm39) F160V possibly damaging Het
Sbf2 A T 7: 109,909,391 (GRCm39) Y1786N probably benign Het
Sdad1 A T 5: 92,446,092 (GRCm39) V280E probably benign Het
Sgsm1 T C 5: 113,427,351 (GRCm39) D90G probably damaging Het
Siglec1 A T 2: 130,916,747 (GRCm39) D1169E probably damaging Het
Sim1 T A 10: 50,857,618 (GRCm39) V456E probably benign Het
Skint8 T A 4: 111,785,710 (GRCm39) I52N possibly damaging Het
Slc27a1 C A 8: 72,033,297 (GRCm39) R280S probably benign Het
Slc9a3 G A 13: 74,298,862 (GRCm39) V94I probably damaging Het
Sorcs2 C A 5: 36,185,269 (GRCm39) V936L possibly damaging Het
Syce1 A G 7: 140,358,120 (GRCm39) F255S probably benign Het
Tmc7 G A 7: 118,150,483 (GRCm39) S350L probably benign Het
Tmem200a T A 10: 25,870,246 (GRCm39) I8F probably damaging Het
Trip6 T C 5: 137,310,182 (GRCm39) H322R probably benign Het
Vmn2r72 A T 7: 85,400,517 (GRCm39) N177K probably benign Het
Other mutations in Or8b12i
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01149:Or8b12i APN 9 20,082,826 (GRCm39) missense probably damaging 1.00
IGL01809:Or8b12i APN 9 20,082,591 (GRCm39) missense probably damaging 1.00
IGL02130:Or8b12i APN 9 20,082,654 (GRCm39) missense probably damaging 0.96
IGL03062:Or8b12i APN 9 20,082,463 (GRCm39) missense probably damaging 1.00
IGL03133:Or8b12i APN 9 20,082,009 (GRCm39) missense probably damaging 1.00
R0110:Or8b12i UTSW 9 20,082,561 (GRCm39) missense probably benign 0.04
R0350:Or8b12i UTSW 9 20,082,032 (GRCm39) nonsense probably null
R0417:Or8b12i UTSW 9 20,082,510 (GRCm39) missense probably damaging 1.00
R0450:Or8b12i UTSW 9 20,082,561 (GRCm39) missense probably benign 0.04
R0469:Or8b12i UTSW 9 20,082,561 (GRCm39) missense probably benign 0.04
R1728:Or8b12i UTSW 9 20,082,209 (GRCm39) nonsense probably null
R1729:Or8b12i UTSW 9 20,082,209 (GRCm39) nonsense probably null
R1776:Or8b12i UTSW 9 20,082,105 (GRCm39) missense probably benign 0.16
R1784:Or8b12i UTSW 9 20,082,209 (GRCm39) nonsense probably null
R1914:Or8b12i UTSW 9 20,082,324 (GRCm39) missense probably benign 0.22
R1915:Or8b12i UTSW 9 20,082,324 (GRCm39) missense probably benign 0.22
R1929:Or8b12i UTSW 9 20,082,705 (GRCm39) missense possibly damaging 0.73
R1936:Or8b12i UTSW 9 20,082,477 (GRCm39) missense probably damaging 1.00
R2066:Or8b12i UTSW 9 20,082,850 (GRCm39) missense probably benign 0.01
R2137:Or8b12i UTSW 9 20,082,463 (GRCm39) missense probably damaging 1.00
R2221:Or8b12i UTSW 9 20,082,388 (GRCm39) missense possibly damaging 0.86
R2270:Or8b12i UTSW 9 20,082,705 (GRCm39) missense possibly damaging 0.73
R2271:Or8b12i UTSW 9 20,082,705 (GRCm39) missense possibly damaging 0.73
R2272:Or8b12i UTSW 9 20,082,705 (GRCm39) missense possibly damaging 0.73
R2509:Or8b12i UTSW 9 20,082,525 (GRCm39) missense probably damaging 1.00
R2939:Or8b12i UTSW 9 20,082,061 (GRCm39) missense probably benign
R2940:Or8b12i UTSW 9 20,082,061 (GRCm39) missense probably benign
R3081:Or8b12i UTSW 9 20,082,061 (GRCm39) missense probably benign
R4579:Or8b12i UTSW 9 20,082,410 (GRCm39) missense probably damaging 1.00
R4667:Or8b12i UTSW 9 20,082,394 (GRCm39) missense probably benign 0.04
R5681:Or8b12i UTSW 9 20,082,091 (GRCm39) missense probably damaging 1.00
R5686:Or8b12i UTSW 9 20,082,265 (GRCm39) missense possibly damaging 0.75
R5857:Or8b12i UTSW 9 20,082,535 (GRCm39) missense probably damaging 1.00
R6561:Or8b12i UTSW 9 20,082,073 (GRCm39) missense probably benign 0.01
R6842:Or8b12i UTSW 9 20,082,549 (GRCm39) missense possibly damaging 0.95
R6987:Or8b12i UTSW 9 20,082,130 (GRCm39) missense probably benign 0.03
R7641:Or8b12i UTSW 9 20,082,549 (GRCm39) missense possibly damaging 0.95
R7674:Or8b12i UTSW 9 20,082,549 (GRCm39) missense possibly damaging 0.95
R8375:Or8b12i UTSW 9 20,082,037 (GRCm39) missense probably benign 0.04
R8445:Or8b12i UTSW 9 20,082,394 (GRCm39) missense probably benign 0.01
R9489:Or8b12i UTSW 9 20,082,093 (GRCm39) missense probably damaging 1.00
R9605:Or8b12i UTSW 9 20,082,093 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2014-01-15