Incidental Mutation 'IGL02794:Or8b56'
ID 359870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8b56
Ensembl Gene ENSMUSG00000044798
Gene Name olfactory receptor family 8 subfamily B member 56
Synonyms Olfr923, MOR164-2, GA_x6K02T2PVTD-32530445-32531380
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL02794
Quality Score
Status
Chromosome 9
Chromosomal Location 38738911-38739978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38739511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 175 (C175S)
Ref Sequence ENSEMBL: ENSMUSP00000151652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051238] [ENSMUST00000213619] [ENSMUST00000219798]
AlphaFold Q7TRB9
Predicted Effect probably damaging
Transcript: ENSMUST00000051238
AA Change: C169S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062073
Gene: ENSMUSG00000044798
AA Change: C169S

DomainStartEndE-ValueType
Pfam:7tm_4 37 314 1.2e-46 PFAM
Pfam:7tm_1 47 296 3.5e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213550
Predicted Effect probably damaging
Transcript: ENSMUST00000213619
AA Change: C169S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000219798
AA Change: C175S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,621,385 (GRCm39) C1082S probably benign Het
Akt2 G T 7: 27,328,806 (GRCm39) R176L probably benign Het
Aldh16a1 A G 7: 44,795,018 (GRCm39) Y484H probably damaging Het
Apeh A G 9: 107,969,209 (GRCm39) S280P possibly damaging Het
Atp1a4 T C 1: 172,071,653 (GRCm39) M481V probably benign Het
Atraid G A 5: 31,210,214 (GRCm39) S135N probably damaging Het
Camta2 C T 11: 70,566,484 (GRCm39) G677D possibly damaging Het
Ccdc18 A G 5: 108,319,614 (GRCm39) N545S probably benign Het
Cic A G 7: 24,985,069 (GRCm39) D1105G probably damaging Het
Crisp1 A T 17: 40,623,957 (GRCm39) M4K unknown Het
Crnkl1 C T 2: 145,772,532 (GRCm39) E182K possibly damaging Het
Dnmt1 A T 9: 20,847,847 (GRCm39) C114S probably benign Het
Dsc2 A T 18: 20,174,788 (GRCm39) Y496N probably damaging Het
Dst T C 1: 34,309,910 (GRCm39) V1528A probably damaging Het
Fbxl8 C T 8: 105,994,752 (GRCm39) T88M probably benign Het
Fbxo10 T C 4: 45,041,928 (GRCm39) N767S probably benign Het
Gm1527 A G 3: 28,949,829 (GRCm39) T30A unknown Het
Gorasp2 C A 2: 70,509,838 (GRCm39) Y166* probably null Het
Gucy2c T A 6: 136,690,146 (GRCm39) Q744L probably damaging Het
Heg1 A T 16: 33,546,992 (GRCm39) N593I probably damaging Het
Ice1 T A 13: 70,757,278 (GRCm39) S236C possibly damaging Het
Il12b T C 11: 44,298,808 (GRCm39) Y88H probably damaging Het
Izumo3 C T 4: 92,035,200 (GRCm39) V6I probably benign Het
Kcna6 A G 6: 126,715,515 (GRCm39) V458A probably damaging Het
Kif13b G A 14: 65,040,889 (GRCm39) R1659Q probably benign Het
Klk1b1 A G 7: 43,619,789 (GRCm39) D116G possibly damaging Het
Lama2 T C 10: 26,917,227 (GRCm39) T2233A possibly damaging Het
Lin9 A T 1: 180,479,444 (GRCm39) K59N probably damaging Het
Ltbp2 T C 12: 84,838,709 (GRCm39) E1083G probably damaging Het
Mfsd11 T A 11: 116,750,177 (GRCm39) S105T probably damaging Het
Mga T A 2: 119,776,770 (GRCm39) I1768N possibly damaging Het
Mical3 C A 6: 120,984,270 (GRCm39) G202V probably damaging Het
Mylk A T 16: 34,806,911 (GRCm39) I1719F probably benign Het
Nusap1 T A 2: 119,460,867 (GRCm39) F120Y possibly damaging Het
Or52e8 T A 7: 104,624,596 (GRCm39) M203L probably benign Het
Or8k32 T C 2: 86,368,492 (GRCm39) T256A possibly damaging Het
Pidd1 T C 7: 141,023,021 (GRCm39) Y57C probably benign Het
Pik3cd T A 4: 149,739,028 (GRCm39) M671L probably benign Het
Ppp5c A G 7: 16,740,885 (GRCm39) V361A probably benign Het
Prune2 T C 19: 17,096,725 (GRCm39) V743A probably benign Het
Siglec1 C A 2: 130,917,889 (GRCm39) S996I possibly damaging Het
Slc12a7 A G 13: 73,957,206 (GRCm39) R948G possibly damaging Het
Slc40a1 A T 1: 45,948,668 (GRCm39) Y537* probably null Het
Smarca4 T A 9: 21,584,638 (GRCm39) probably benign Het
Smg6 C T 11: 74,944,760 (GRCm39) P1109S probably damaging Het
Sorl1 T A 9: 41,975,070 (GRCm39) N513Y probably damaging Het
Trim58 C T 11: 58,531,292 (GRCm39) probably benign Het
Trim72 T C 7: 127,603,704 (GRCm39) C17R probably damaging Het
Ttc3 T C 16: 94,268,785 (GRCm39) C1956R probably damaging Het
Vmn1r211 G T 13: 23,036,379 (GRCm39) T96N possibly damaging Het
Vmn1r211 C A 13: 23,036,376 (GRCm39) S97I probably damaging Het
Vmn1r211 T A 13: 23,036,377 (GRCm39) S97C probably damaging Het
Vmn2r66 A T 7: 84,644,623 (GRCm39) S596T probably benign Het
Zfp609 A G 9: 65,611,602 (GRCm39) S454P possibly damaging Het
Other mutations in Or8b56
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01485:Or8b56 APN 9 38,739,895 (GRCm39) missense possibly damaging 0.93
IGL01521:Or8b56 APN 9 38,739,185 (GRCm39) missense probably damaging 1.00
IGL01548:Or8b56 APN 9 38,739,646 (GRCm39) missense probably benign 0.00
IGL02240:Or8b56 APN 9 38,739,602 (GRCm39) missense probably benign 0.12
R0116:Or8b56 UTSW 9 38,739,860 (GRCm39) missense probably damaging 0.99
R0118:Or8b56 UTSW 9 38,739,154 (GRCm39) missense possibly damaging 0.62
R0189:Or8b56 UTSW 9 38,739,111 (GRCm39) nonsense probably null
R1381:Or8b56 UTSW 9 38,739,634 (GRCm39) missense probably benign 0.04
R1512:Or8b56 UTSW 9 38,739,660 (GRCm39) nonsense probably null
R1702:Or8b56 UTSW 9 38,739,839 (GRCm39) missense probably damaging 1.00
R2357:Or8b56 UTSW 9 38,739,634 (GRCm39) missense probably benign 0.00
R2863:Or8b56 UTSW 9 38,739,835 (GRCm39) missense possibly damaging 0.89
R2985:Or8b56 UTSW 9 38,739,406 (GRCm39) missense probably benign 0.05
R5475:Or8b56 UTSW 9 38,739,762 (GRCm39) missense possibly damaging 0.81
R5682:Or8b56 UTSW 9 38,739,424 (GRCm39) missense probably benign 0.00
R8243:Or8b56 UTSW 9 38,739,803 (GRCm39) missense
R8743:Or8b56 UTSW 9 38,738,995 (GRCm39) missense probably benign 0.08
R9182:Or8b56 UTSW 9 38,739,172 (GRCm39) missense probably damaging 1.00
R9563:Or8b56 UTSW 9 38,739,014 (GRCm39) missense probably benign
Posted On 2015-12-18