Incidental Mutation 'R5530:Or8b12c'
ID 433642
Institutional Source Beutler Lab
Gene Symbol Or8b12c
Ensembl Gene ENSMUSG00000066750
Gene Name olfactory receptor family 8 subfamily B member 12C
Synonyms Olfr876, MOR161-1, GA_x6K02T2PVTD-31489645-31490577
MMRRC Submission 043088-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R5530 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 37715185-37716232 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37716103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 299 (T299A)
Ref Sequence ENSEMBL: ENSMUSP00000149930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086064] [ENSMUST00000213368] [ENSMUST00000215287]
AlphaFold Q7TRE4
Predicted Effect probably benign
Transcript: ENSMUST00000086064
AA Change: T299A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000083231
Gene: ENSMUSG00000066750
AA Change: T299A

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 1.6e-47 PFAM
Pfam:7tm_1 40 289 3.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213368
AA Change: T299A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000215287
AA Change: T299A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 95.3%
  • 20x: 91.1%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 A G 1: 75,154,556 (GRCm39) probably benign Het
Anapc2 A G 2: 25,174,595 (GRCm39) K653E possibly damaging Het
Aplp1 T C 7: 30,136,254 (GRCm39) S508G possibly damaging Het
Bend3 T A 10: 43,387,722 (GRCm39) V705D probably damaging Het
Btaf1 C A 19: 36,968,175 (GRCm39) A1120E possibly damaging Het
Carmil3 T C 14: 55,731,081 (GRCm39) V116A probably damaging Het
Cdk5rap3 A T 11: 96,802,459 (GRCm39) Y238* probably null Het
Cep170 T C 1: 176,597,076 (GRCm39) H427R probably benign Het
Cubn G A 2: 13,313,334 (GRCm39) R3079W probably damaging Het
Edc4 G T 8: 106,615,886 (GRCm39) E694* probably null Het
Entrep1 T A 19: 23,952,958 (GRCm39) T451S probably benign Het
Epb41l4b A G 4: 57,086,003 (GRCm39) S191P probably damaging Het
Fbxo46 T C 7: 18,870,727 (GRCm39) Y449H probably damaging Het
Ficd C A 5: 113,876,986 (GRCm39) P387Q probably damaging Het
Grin2b T C 6: 135,710,721 (GRCm39) T942A probably benign Het
Hoxb1 G C 11: 96,257,754 (GRCm39) R228P probably damaging Het
Jmjd1c T C 10: 67,085,541 (GRCm39) F2444L probably damaging Het
Kcnj2 T C 11: 110,962,917 (GRCm39) F103S probably damaging Het
Mapkbp1 A G 2: 119,845,836 (GRCm39) I402V probably benign Het
Mtcl2 T A 2: 156,862,262 (GRCm39) S1556C probably damaging Het
Mvp A G 7: 126,595,095 (GRCm39) V250A probably benign Het
Myo1b T A 1: 51,836,582 (GRCm39) N293I probably damaging Het
Npy5r T A 8: 67,133,512 (GRCm39) Y427F probably benign Het
Nrdc C T 4: 108,904,806 (GRCm39) T747M probably damaging Het
Nrxn2 C T 19: 6,548,397 (GRCm39) P30L possibly damaging Het
Nt5dc3 T C 10: 86,656,857 (GRCm39) F332S probably damaging Het
Optc T G 1: 133,832,828 (GRCm39) T91P probably benign Het
Or14j10 A G 17: 37,934,698 (GRCm39) I276T possibly damaging Het
Otud7b A T 3: 96,048,799 (GRCm39) E92V probably damaging Het
Pgap4 A G 4: 49,586,226 (GRCm39) L314P probably benign Het
Pla2g4d A G 2: 120,100,036 (GRCm39) I677T probably benign Het
Pot1a T C 6: 25,778,893 (GRCm39) E67G probably damaging Het
Ppil6 T C 10: 41,383,494 (GRCm39) S257P probably damaging Het
Ppp1r14a T C 7: 28,988,791 (GRCm39) L11P probably benign Het
Ppp1r14bl A T 1: 23,141,071 (GRCm39) I81N probably damaging Het
Pramel13 A T 4: 144,119,232 (GRCm39) M445K probably benign Het
Rad21l A T 2: 151,499,430 (GRCm39) I257K probably benign Het
Rbm11 A G 16: 75,389,861 (GRCm39) D9G possibly damaging Het
Rhbdf2 T C 11: 116,491,488 (GRCm39) Y586C probably damaging Het
Rxfp2 A T 5: 149,980,275 (GRCm39) I276F probably damaging Het
Sec14l4 A G 11: 3,996,342 (GRCm39) *404W probably null Het
Sec16a A G 2: 26,329,264 (GRCm39) V917A probably benign Het
Sec61a2 A T 2: 5,887,461 (GRCm39) Y131* probably null Het
Sspo A T 6: 48,442,517 (GRCm39) Y2004F probably damaging Het
Stab2 T C 10: 86,783,026 (GRCm39) E674G probably benign Het
Tmf1 A G 6: 97,135,048 (GRCm39) S989P probably damaging Het
Tshz1 T C 18: 84,031,393 (GRCm39) D1005G probably damaging Het
Wdr19 T C 5: 65,385,562 (GRCm39) S555P probably benign Het
Zdhhc24 T A 19: 4,933,591 (GRCm39) probably null Het
Zfp558 A G 9: 18,367,669 (GRCm39) M373T probably benign Het
Other mutations in Or8b12c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Or8b12c APN 9 37,716,078 (GRCm39) missense probably damaging 1.00
IGL01330:Or8b12c APN 9 37,715,516 (GRCm39) missense probably damaging 1.00
IGL02105:Or8b12c APN 9 37,715,891 (GRCm39) missense possibly damaging 0.53
IGL02505:Or8b12c APN 9 37,715,627 (GRCm39) missense probably benign 0.08
R1543:Or8b12c UTSW 9 37,715,243 (GRCm39) missense possibly damaging 0.94
R1768:Or8b12c UTSW 9 37,715,599 (GRCm39) missense probably damaging 1.00
R1960:Or8b12c UTSW 9 37,715,242 (GRCm39) missense probably benign 0.01
R2567:Or8b12c UTSW 9 37,715,509 (GRCm39) missense probably damaging 1.00
R3815:Or8b12c UTSW 9 37,715,465 (GRCm39) missense probably benign 0.05
R3816:Or8b12c UTSW 9 37,715,465 (GRCm39) missense probably benign 0.05
R3817:Or8b12c UTSW 9 37,715,465 (GRCm39) missense probably benign 0.05
R3819:Or8b12c UTSW 9 37,715,465 (GRCm39) missense probably benign 0.05
R4364:Or8b12c UTSW 9 37,715,486 (GRCm39) missense probably benign 0.19
R4366:Or8b12c UTSW 9 37,715,486 (GRCm39) missense probably benign 0.19
R4620:Or8b12c UTSW 9 37,716,115 (GRCm39) missense probably benign 0.02
R6199:Or8b12c UTSW 9 37,716,177 (GRCm39) splice site probably null
R6238:Or8b12c UTSW 9 37,715,317 (GRCm39) missense probably benign 0.26
R6893:Or8b12c UTSW 9 37,716,141 (GRCm39) makesense probably null
R7404:Or8b12c UTSW 9 37,715,257 (GRCm39) missense possibly damaging 0.80
R7806:Or8b12c UTSW 9 37,715,872 (GRCm39) missense probably damaging 0.99
R8855:Or8b12c UTSW 9 37,715,709 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2016-10-06