Incidental Mutation 'IGL02799:Or8b12'
ID 392279
Institutional Source Beutler Lab
Gene Symbol Or8b12
Ensembl Gene ENSMUSG00000063350
Gene Name olfactory receptor family 8 subfamily B member 12
Synonyms GA_x6K02T2PVTD-31428850-31429782, MOR161-2, Olfr874
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL02799 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 37656596-37658402 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37657805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 125 (I125N)
Ref Sequence ENSEMBL: ENSMUSP00000150088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115004] [ENSMUST00000216982]
AlphaFold Q7TRE6
Predicted Effect probably damaging
Transcript: ENSMUST00000115004
AA Change: I125N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110656
Gene: ENSMUSG00000063350
AA Change: I125N

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 5.9e-49 PFAM
Pfam:7tm_1 40 289 6.2e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216982
AA Change: I125N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.3531 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (67/68)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A G 6: 86,083,234 (GRCm39) N444S possibly damaging Het
Atp2b2 A T 6: 113,739,813 (GRCm39) Y823* probably null Het
Atp2c1 A C 9: 105,290,242 (GRCm39) probably benign Het
Capns1 A T 7: 29,891,644 (GRCm39) D133E probably benign Het
Cast A G 13: 74,884,871 (GRCm39) V361A probably damaging Het
Cd69 G A 6: 129,245,223 (GRCm39) probably benign Het
Celsr2 T A 3: 108,321,378 (GRCm39) D478V probably damaging Het
Cenpf T C 1: 189,391,849 (GRCm39) E661G probably damaging Het
Chrna1 A G 2: 73,404,985 (GRCm39) probably benign Het
Clec5a C A 6: 40,554,983 (GRCm39) V138F probably damaging Het
Ctsj T A 13: 61,151,634 (GRCm39) I95F probably benign Het
Dcaf1 T A 9: 106,735,139 (GRCm39) S696T probably benign Het
Dcp1a T C 14: 30,241,636 (GRCm39) probably null Het
Dnajc14 C T 10: 128,642,725 (GRCm39) P216S possibly damaging Het
Dst T C 1: 34,218,930 (GRCm39) I1790T possibly damaging Het
Ehmt1 A T 2: 24,705,818 (GRCm39) H789Q probably damaging Het
Exoc7 A T 11: 116,192,007 (GRCm39) L188Q probably damaging Het
Faap100 A G 11: 120,261,561 (GRCm39) L823P probably damaging Het
Fdxacb1 T A 9: 50,683,896 (GRCm39) S620T probably benign Het
Fhl2 C T 1: 43,167,562 (GRCm39) R177Q probably benign Het
Gars1 C A 6: 55,040,084 (GRCm39) T337K probably damaging Het
Ggta1 A T 2: 35,312,211 (GRCm39) F56I probably damaging Het
Gm10715 A C 9: 3,038,062 (GRCm39) probably benign Het
Gpr108 T A 17: 57,544,482 (GRCm39) I343F probably damaging Het
Gpr12 T A 5: 146,520,629 (GRCm39) I98F possibly damaging Het
Hk2 A G 6: 82,737,219 (GRCm39) L3P probably damaging Het
Imp4 C A 1: 34,479,258 (GRCm39) probably benign Het
Insrr G A 3: 87,720,888 (GRCm39) V1049M probably damaging Het
Klhl24 T C 16: 19,933,331 (GRCm39) V314A probably damaging Het
Krt32 A T 11: 99,978,733 (GRCm39) V107D possibly damaging Het
Krtap5-1 G A 7: 141,850,242 (GRCm39) Q189* probably null Het
Lrrc9 A G 12: 72,553,178 (GRCm39) E1360G probably damaging Het
Mdc1 G T 17: 36,157,083 (GRCm39) L163F possibly damaging Het
Mroh1 T G 15: 76,276,661 (GRCm39) probably null Het
Myh8 A G 11: 67,192,418 (GRCm39) probably benign Het
Ndufab1 A T 7: 121,692,949 (GRCm39) probably benign Het
Nek3 A G 8: 22,648,735 (GRCm39) probably benign Het
Ngly1 A T 14: 16,260,636 (GRCm38) I107L probably benign Het
Nkain4 A T 2: 180,577,728 (GRCm39) probably null Het
Nsd2 T A 5: 34,022,132 (GRCm39) probably benign Het
Or4n4 A G 14: 50,518,801 (GRCm39) I303T probably benign Het
Or5e1 A T 7: 108,354,830 (GRCm39) M256L probably benign Het
Or5t9 A T 2: 86,659,300 (GRCm39) H68L probably damaging Het
Or7e166 T A 9: 19,624,314 (GRCm39) Y64N probably damaging Het
Pcnt G A 10: 76,248,417 (GRCm39) Q901* probably null Het
Pctp C A 11: 89,881,913 (GRCm39) W81C probably damaging Het
Pik3r5 A T 11: 68,386,773 (GRCm39) I801F probably damaging Het
Ptprj A T 2: 90,299,942 (GRCm39) N193K probably benign Het
Rab11fip1 A T 8: 27,642,788 (GRCm39) D670E probably benign Het
Racgap1 T C 15: 99,530,628 (GRCm39) K201E probably benign Het
Ranbp2 T C 10: 58,316,086 (GRCm39) F2269L probably damaging Het
Rint1 C A 5: 24,024,478 (GRCm39) A760D possibly damaging Het
Ryr2 G A 13: 11,680,848 (GRCm39) P3166S probably damaging Het
Snap29 A G 16: 17,240,367 (GRCm39) N158D probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
St6galnac1 G T 11: 116,657,473 (GRCm39) probably benign Het
Strc G A 2: 121,209,717 (GRCm39) T202I probably damaging Het
Stxbp4 A G 11: 90,385,426 (GRCm39) probably null Het
Syne1 A T 10: 5,309,059 (GRCm39) M650K probably damaging Het
Tbc1d2b C T 9: 90,105,487 (GRCm39) probably benign Het
Tcfl5 A T 2: 180,280,419 (GRCm39) I328N possibly damaging Het
Tenm2 A G 11: 36,164,235 (GRCm39) Y337H probably damaging Het
Tgfbr2 T C 9: 115,939,204 (GRCm39) K233E possibly damaging Het
Tnk2 T C 16: 32,484,699 (GRCm39) probably benign Het
Trbv13-2 A G 6: 41,098,471 (GRCm39) probably benign Het
Tut4 T C 4: 108,370,725 (GRCm39) Y875H probably benign Het
Usp6nl T A 2: 6,432,360 (GRCm39) probably benign Het
Vmn2r62 A G 7: 42,437,396 (GRCm39) S363P possibly damaging Het
Vnn3 T C 10: 23,727,869 (GRCm39) I93T possibly damaging Het
Ylpm1 A G 12: 85,091,258 (GRCm39) D1108G probably damaging Het
Zbtb17 G A 4: 141,190,691 (GRCm39) G170S probably benign Het
Zfyve26 T C 12: 79,320,084 (GRCm39) E1087G probably benign Het
Other mutations in Or8b12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Or8b12 APN 9 37,657,685 (GRCm39) missense possibly damaging 0.89
IGL02349:Or8b12 APN 9 37,657,502 (GRCm39) missense probably benign 0.03
R0498:Or8b12 UTSW 9 37,657,550 (GRCm39) missense probably damaging 1.00
R0690:Or8b12 UTSW 9 37,657,513 (GRCm39) missense probably benign 0.01
R1053:Or8b12 UTSW 9 37,658,131 (GRCm39) missense probably damaging 0.99
R1777:Or8b12 UTSW 9 37,657,607 (GRCm39) missense possibly damaging 0.78
R1862:Or8b12 UTSW 9 37,658,264 (GRCm39) missense probably benign
R1907:Or8b12 UTSW 9 37,657,729 (GRCm39) missense probably benign 0.35
R4524:Or8b12 UTSW 9 37,658,162 (GRCm39) missense possibly damaging 0.50
R4731:Or8b12 UTSW 9 37,657,831 (GRCm39) missense probably benign 0.06
R4746:Or8b12 UTSW 9 37,657,453 (GRCm39) missense probably benign 0.02
R4768:Or8b12 UTSW 9 37,658,177 (GRCm39) missense probably damaging 1.00
R5130:Or8b12 UTSW 9 37,657,805 (GRCm39) missense probably damaging 1.00
R5406:Or8b12 UTSW 9 37,657,943 (GRCm39) missense probably benign 0.23
R5546:Or8b12 UTSW 9 37,657,820 (GRCm39) missense probably benign 0.05
R5882:Or8b12 UTSW 9 37,657,928 (GRCm39) missense probably benign 0.02
R5946:Or8b12 UTSW 9 37,658,330 (GRCm39) missense probably damaging 0.99
R6226:Or8b12 UTSW 9 37,657,433 (GRCm39) start codon destroyed probably null 1.00
R6705:Or8b12 UTSW 9 37,658,030 (GRCm39) missense possibly damaging 0.94
R6965:Or8b12 UTSW 9 37,657,433 (GRCm39) start codon destroyed probably null 1.00
R8008:Or8b12 UTSW 9 37,658,089 (GRCm39) missense probably damaging 0.99
R8743:Or8b12 UTSW 9 37,658,174 (GRCm39) missense probably benign
R9066:Or8b12 UTSW 9 37,657,871 (GRCm39) missense possibly damaging 0.65
R9068:Or8b12 UTSW 9 37,657,963 (GRCm39) missense probably damaging 1.00
R9756:Or8b12 UTSW 9 37,658,314 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- ATTGGGCTGAACTCTCACCTTC -3'
(R):5'- GCTATTGCAAGAGAGCTCAAG -3'

Sequencing Primer
(F):5'- GGGCTGAACTCTCACCTTCATACC -3'
(R):5'- CTCAAGAAGGGGAAGAATATCACAC -3'
Posted On 2016-06-09