Incidental Mutation 'R1936:Or8b12i'
ID 215810
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 039954-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R1936 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 20081930-20082865 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20082477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 130 (L130P)
Ref Sequence ENSEMBL: ENSMUSP00000150084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086476] [ENSMUST00000215984]
AlphaFold Q8VGG4
Predicted Effect probably damaging
Transcript: ENSMUST00000086476
AA Change: L130P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091405
Gene: ENSMUSG00000066899
AA Change: L130P

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 damaging
Transcript: ENSMUST00000215984
AA Change: L130P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.5%
Validation Efficiency 99% (98/99)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,894,061 (GRCm39) Q226R possibly damaging Het
Abca13 G A 11: 9,243,595 (GRCm39) M1819I probably benign Het
Abca4 G A 3: 121,846,572 (GRCm39) V30M probably benign Het
Ablim1 T A 19: 57,204,397 (GRCm39) probably null Het
Adgrf3 A T 5: 30,407,304 (GRCm39) N207K probably benign Het
Anapc4 T A 5: 52,997,010 (GRCm39) D94E probably damaging Het
Arfgef2 A G 2: 166,705,523 (GRCm39) N918S probably benign Het
Arhgap45 A G 10: 79,866,788 (GRCm39) N1097S probably damaging Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
AU016765 G A 17: 64,826,873 (GRCm39) noncoding transcript Het
Brd10 A G 19: 29,731,077 (GRCm39) F712S possibly damaging Het
Cacna2d2 T C 9: 107,386,455 (GRCm39) F194S probably damaging Het
Cacna2d4 A G 6: 119,247,722 (GRCm39) D341G possibly damaging Het
Cdc42bpg A G 19: 6,360,339 (GRCm39) Y175C probably damaging Het
Cep170b G T 12: 112,702,172 (GRCm39) D322Y probably damaging Het
Cflar T A 1: 58,791,784 (GRCm39) Y362* probably null Het
Chml A T 1: 175,514,825 (GRCm39) C365* probably null Het
Clrn3 A C 7: 135,115,753 (GRCm39) I199S possibly damaging Het
Crtam G C 9: 40,915,846 (GRCm39) P13A probably benign Het
Defb26 T A 2: 152,350,195 (GRCm39) K28N possibly damaging Het
Dennd1c G A 17: 57,380,889 (GRCm39) probably benign Het
Dgkz A T 2: 91,768,323 (GRCm39) M761K possibly damaging Het
Dnhd1 A T 7: 105,323,183 (GRCm39) M564L probably benign Het
Dusp15 A G 2: 152,787,341 (GRCm39) probably benign Het
Dync2h1 A G 9: 7,139,159 (GRCm39) probably null Het
Eapp A T 12: 54,720,513 (GRCm39) M234K probably benign Het
Epha8 T C 4: 136,667,554 (GRCm39) D309G probably benign Het
Gfi1b T C 2: 28,500,125 (GRCm39) K302R possibly damaging Het
Gimap3 A T 6: 48,742,683 (GRCm39) F82L probably damaging Het
Gm4862 T C 3: 138,834,253 (GRCm39) noncoding transcript Het
Gpatch1 A G 7: 34,994,947 (GRCm39) S440P probably damaging Het
Gpr152 A G 19: 4,192,531 (GRCm39) D24G probably damaging Het
Gpr6 T C 10: 40,947,477 (GRCm39) E35G probably benign Het
Hip1r T A 5: 124,134,134 (GRCm39) M270K probably damaging Het
Hk3 C T 13: 55,159,204 (GRCm39) V451I probably damaging Het
Itprid1 G T 6: 55,874,666 (GRCm39) L205F probably damaging Het
Jag1 C G 2: 136,925,393 (GRCm39) V1070L possibly damaging Het
Klf16 G A 10: 80,412,739 (GRCm39) A99V probably benign Het
Lama5 T C 2: 179,832,714 (GRCm39) N1646S probably benign Het
Lvrn A T 18: 47,011,387 (GRCm39) Y448F probably benign Het
Mark3 A G 12: 111,584,799 (GRCm39) M132V probably damaging Het
Mast3 A G 8: 71,237,444 (GRCm39) Y577H probably damaging Het
Med24 A T 11: 98,609,642 (GRCm39) probably null Het
Mif G T 10: 75,695,681 (GRCm39) H41N possibly damaging Het
Myo18b T C 5: 112,908,222 (GRCm39) N2017S probably benign Het
Neurl4 C T 11: 69,797,959 (GRCm39) R740C probably damaging Het
Nlgn1 G T 3: 26,385,939 (GRCm39) probably benign Het
Or10ad1c T A 15: 98,085,462 (GRCm39) H72L probably benign Het
Or2ak6 T A 11: 58,593,172 (GRCm39) L215Q probably damaging Het
Or5t15 A G 2: 86,681,745 (GRCm39) M99T probably benign Het
Paip1 T A 13: 119,593,550 (GRCm39) M463K probably damaging Het
Parp3 T A 9: 106,351,931 (GRCm39) Y147F probably damaging Het
Pgrmc2 C A 3: 41,037,473 (GRCm39) probably benign Het
Phldb3 G A 7: 24,316,832 (GRCm39) A278T probably benign Het
Plxnb1 T C 9: 108,924,715 (GRCm39) probably null Het
Pphln1 A G 15: 93,386,868 (GRCm39) D234G possibly damaging Het
Prdm2 T C 4: 142,861,032 (GRCm39) S753G probably benign Het
Prss32 A G 17: 24,075,024 (GRCm39) R125G possibly damaging Het
Psg22 A T 7: 18,453,635 (GRCm39) N149I probably damaging Het
Psmd11 T C 11: 80,319,570 (GRCm39) L20P probably damaging Het
Recql5 T C 11: 115,788,017 (GRCm39) Y434C probably benign Het
Rexo1 A G 10: 80,386,303 (GRCm39) S252P probably benign Het
Sdr9c7 A G 10: 127,739,503 (GRCm39) K206R probably benign Het
Slc17a8 T C 10: 89,413,777 (GRCm39) M484V probably benign Het
Slc1a2 A G 2: 102,607,950 (GRCm39) N530D probably benign Het
Slc25a14 G A X: 47,740,840 (GRCm39) V210I probably benign Het
Slc25a24 A T 3: 109,043,581 (GRCm39) E79D probably damaging Het
Smchd1 T C 17: 71,770,786 (GRCm39) Y132C probably damaging Het
Sorcs1 T C 19: 50,221,082 (GRCm39) D545G probably damaging Het
Sorcs2 A G 5: 36,228,731 (GRCm39) S104P possibly damaging Het
Speg C T 1: 75,408,052 (GRCm39) T3249I possibly damaging Het
Spry4 A G 18: 38,723,142 (GRCm39) I207T possibly damaging Het
Srsf6 C T 2: 162,776,403 (GRCm39) probably benign Het
Tdrd6 A G 17: 43,937,358 (GRCm39) L1230P probably damaging Het
Tesk2 A G 4: 116,599,021 (GRCm39) Y43C probably benign Het
Tex101 A G 7: 24,367,650 (GRCm39) V234A probably benign Het
Tmem161b T A 13: 84,441,585 (GRCm39) L210Q probably damaging Het
Tmprss11f T A 5: 86,692,723 (GRCm39) Q67L probably benign Het
Tnfrsf23 A G 7: 143,222,291 (GRCm39) F174L probably benign Het
Tnrc6c A G 11: 117,646,849 (GRCm39) D1450G possibly damaging Het
Trdmt1 A G 2: 13,516,420 (GRCm39) L386P probably damaging Het
Trim25 A T 11: 88,895,576 (GRCm39) T206S probably benign Het
Trit1 T C 4: 122,948,033 (GRCm39) I451T probably benign Het
Trpc4 T A 3: 54,187,311 (GRCm39) M421K probably damaging Het
Ttc34 G A 4: 154,950,139 (GRCm39) A1031T possibly damaging Het
Ttn A C 2: 76,715,834 (GRCm39) probably benign Het
Ttn T A 2: 76,577,522 (GRCm39) D24457V probably damaging Het
Ubiad1 A G 4: 148,528,468 (GRCm39) L147P probably damaging Het
Vmn2r94 G A 17: 18,464,554 (GRCm39) R579* probably null Het
Vps72 T A 3: 95,029,851 (GRCm39) V290D probably benign Het
Wipf2 C T 11: 98,783,236 (GRCm39) R221* probably null Het
Zfp26 A G 9: 20,348,849 (GRCm39) Y572H probably benign Het
Zfp292 A G 4: 34,807,452 (GRCm39) V1864A probably benign Het
Zfp952 A T 17: 33,222,643 (GRCm39) H374L possibly damaging Het
Zfy2 C A Y: 2,121,496 (GRCm39) M132I 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
R1169:Or8b12i UTSW 9 20,082,354 (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
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 PCR Primer
(F):5'- GTGAGGGCTTTGGCATATTCAC -3'
(R):5'- GCATTGACTCTCACCTGCATAC -3'

Sequencing Primer
(F):5'- GGGCTTTGGCATATTCACAGTAAAAG -3'
(R):5'- GACATTGGTTTCATCTCTACAACTG -3'
Posted On 2014-07-14