Incidental Mutation 'R2985:Or8b56'
ID 257786
Institutional Source Beutler Lab
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 # R2985 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 38738911-38739978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 38739406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 140 (V140I)
Ref Sequence ENSEMBL: ENSMUSP00000151652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051238] [ENSMUST00000213619] [ENSMUST00000219798]
AlphaFold Q7TRB9
Predicted Effect probably benign
Transcript: ENSMUST00000051238
AA Change: V134I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000062073
Gene: ENSMUSG00000044798
AA Change: V134I

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 benign
Transcript: ENSMUST00000213619
AA Change: V134I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000219798
AA Change: V140I

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 94.7%
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Ccdc83 A G 7: 89,885,575 (GRCm39) probably benign Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Cul1 T A 6: 47,479,441 (GRCm39) F236I probably damaging Het
Etl4 T C 2: 20,786,660 (GRCm39) V470A probably damaging Het
Fndc1 T C 17: 7,975,155 (GRCm39) E1428G possibly damaging Het
Gal3st1 A G 11: 3,948,618 (GRCm39) Y275C probably damaging Het
Jakmip2 G A 18: 43,704,246 (GRCm39) T366I possibly damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Obscn A G 11: 59,023,915 (GRCm39) F585S probably damaging Het
Oxld1 T C 11: 120,347,862 (GRCm39) T112A probably benign Het
Pcdha9 A G 18: 37,131,255 (GRCm39) N108S possibly damaging Het
Pkd1l2 T C 8: 117,792,290 (GRCm39) S501G probably benign Het
Pls1 G A 9: 95,667,635 (GRCm39) T91M possibly damaging Het
Prr12 G C 7: 44,695,436 (GRCm39) S1343R unknown Het
Trpm5 G T 7: 142,636,675 (GRCm39) L421I probably damaging Het
Ttn A T 2: 76,574,618 (GRCm39) V25425E probably damaging Het
Zfp112 A G 7: 23,821,720 (GRCm39) D20G probably benign 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
IGL02794:Or8b56 APN 9 38,739,511 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACTATAGTGGCAAATCTGGGC -3'
(R):5'- ACCTCATTGTTGTAAGTGCTGG -3'

Sequencing Primer
(F):5'- GGCAAATCTGGGCTTAATTACACTG -3'
(R):5'- TGCTGGTGCAGGAAAGCTG -3'
Posted On 2015-01-11