Incidental Mutation 'IGL01330:Or8b12c'
ID 74452
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8b12c
Ensembl Gene ENSMUSG00000066750
Gene Name olfactory receptor family 8 subfamily B member 12C
Synonyms Olfr876, MOR161-1, GA_x6K02T2PVTD-31489645-31490577
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL01330
Quality Score
Status
Chromosome 9
Chromosomal Location 37715185-37716232 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37715516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 103 (F103Y)
Ref Sequence ENSEMBL: ENSMUSP00000149930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086064] [ENSMUST00000213368] [ENSMUST00000215287]
AlphaFold Q7TRE4
Predicted Effect probably damaging
Transcript: ENSMUST00000086064
AA Change: F103Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000083231
Gene: ENSMUSG00000066750
AA Change: F103Y

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 1.6e-47 PFAM
Pfam:7tm_1 40 289 3.2e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213368
AA Change: F103Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000215287
AA Change: F103Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf A G 19: 31,898,351 (GRCm39) E245G possibly damaging Het
Acap2 T C 16: 30,973,495 (GRCm39) I43V probably damaging Het
Acot11 T C 4: 106,628,681 (GRCm39) T36A probably benign Het
Bsn A G 9: 107,988,112 (GRCm39) probably benign Het
Capza2 T C 6: 17,654,170 (GRCm39) probably null Het
Cerkl A G 2: 79,199,125 (GRCm39) I155T possibly damaging Het
Dclre1b T C 3: 103,710,442 (GRCm39) T490A probably benign Het
Efcab6 G A 15: 83,928,501 (GRCm39) S31L probably benign Het
Faim T A 9: 98,874,588 (GRCm39) M67K probably damaging Het
Frem2 T G 3: 53,562,662 (GRCm39) Q615P possibly damaging Het
Fut9 A G 4: 25,619,791 (GRCm39) V341A possibly damaging Het
Grhpr T C 4: 44,986,375 (GRCm39) F142L probably benign Het
Kif14 T C 1: 136,404,112 (GRCm39) V532A probably damaging Het
Klk1b9 T A 7: 43,627,867 (GRCm39) L55* probably null Het
Kmt2e C A 5: 23,702,946 (GRCm39) P1042Q possibly damaging Het
Mpped1 T A 15: 83,684,320 (GRCm39) I114N probably damaging Het
Mtap C A 4: 89,089,460 (GRCm39) T148K probably damaging Het
Muc16 G A 9: 18,419,803 (GRCm39) A8347V possibly damaging Het
Nhs A T X: 160,624,449 (GRCm39) S967T probably damaging Het
Npas3 A G 12: 54,095,602 (GRCm39) Y344C probably damaging Het
Or51q1 A T 7: 103,629,349 (GRCm39) probably benign Het
Or5an9 T C 19: 12,187,404 (GRCm39) V158A possibly damaging Het
Osmr A G 15: 6,871,509 (GRCm39) Y303H probably damaging Het
Pcdhb8 A T 18: 37,490,631 (GRCm39) I770F probably benign Het
Pde4a C T 9: 21,103,734 (GRCm39) probably benign Het
Prkacb T G 3: 146,457,266 (GRCm39) N79T probably damaging Het
Psd3 A C 8: 68,149,830 (GRCm39) Y1222D probably damaging Het
Rrbp1 T A 2: 143,810,538 (GRCm39) E847D possibly damaging Het
Sbno1 A T 5: 124,530,042 (GRCm39) D912E probably damaging Het
Sgsm3 T A 15: 80,895,053 (GRCm39) probably benign Het
Shcbp1 T C 8: 4,786,372 (GRCm39) T577A probably benign Het
Siglec1 A T 2: 130,925,456 (GRCm39) V335D probably damaging Het
Siglec1 A T 2: 130,916,925 (GRCm39) L1110* probably null Het
Slc4a11 A G 2: 130,529,602 (GRCm39) I335T probably benign Het
Smchd1 A C 17: 71,743,783 (GRCm39) S461A probably benign Het
Spata16 C T 3: 26,968,864 (GRCm39) P415S probably damaging Het
Tdrd12 G A 7: 35,204,459 (GRCm39) S217L possibly damaging Het
Tmem156 C T 5: 65,237,525 (GRCm39) R45H probably benign Het
Vmn2r90 T C 17: 17,953,542 (GRCm39) S569P probably benign Het
Vps13c T A 9: 67,871,390 (GRCm39) V3220E probably damaging Het
Wdr59 T C 8: 112,208,565 (GRCm39) N439S possibly damaging Het
Zfp568 A G 7: 29,721,702 (GRCm39) M215V probably benign Het
Zgrf1 T A 3: 127,377,656 (GRCm39) V967E probably damaging Het
Zkscan16 A G 4: 58,956,483 (GRCm39) D255G possibly damaging Het
Other mutations in Or8b12c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Or8b12c APN 9 37,716,078 (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
R5530:Or8b12c UTSW 9 37,716,103 (GRCm39) missense probably benign 0.00
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
Posted On 2013-10-07