Incidental Mutation 'R3708:Or8b101'
ID 259445
Institutional Source Beutler Lab
Gene Symbol Or8b101
Ensembl Gene ENSMUSG00000095527
Gene Name olfactory receptor family 8 subfamily B member 101
Synonyms Olfr888, GA_x6K02T2PVTD-31787920-31788864, MOR162-4
MMRRC Submission 040701-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R3708 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 38019984-38020928 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38020740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 253 (S253P)
Ref Sequence ENSEMBL: ENSMUSP00000074713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075228] [ENSMUST00000211851]
AlphaFold Q9EQA5
Predicted Effect probably damaging
Transcript: ENSMUST00000075228
AA Change: S253P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074713
Gene: ENSMUSG00000095527
AA Change: S253P

DomainStartEndE-ValueType
Pfam:7tm_4 36 311 8.8e-49 PFAM
Pfam:7tm_1 46 293 3.9e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000211851
AA Change: S248P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 92.1%
Validation Efficiency 98% (51/52)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Abcc5 G T 16: 20,190,930 (GRCm39) Q807K probably benign Het
Amfr T C 8: 94,709,948 (GRCm39) H419R probably benign Het
Atp8b2 A T 3: 89,852,459 (GRCm39) F866I probably damaging Het
Atxn7l3 G A 11: 102,182,705 (GRCm39) probably benign Het
Bcs1l A G 1: 74,629,264 (GRCm39) probably benign Het
Card11 G A 5: 140,872,890 (GRCm39) R608C probably damaging Het
Celf2 C A 2: 6,629,489 (GRCm39) K137N probably damaging Het
Cmya5 A T 13: 93,231,874 (GRCm39) Y1071* probably null Het
Cyp2d10 A G 15: 82,287,217 (GRCm39) F469L possibly damaging Het
Cyp3a41a A G 5: 145,654,733 (GRCm39) probably null Het
Dnah8 A T 17: 30,958,631 (GRCm39) I2158L probably damaging Het
Dtnb T A 12: 3,639,156 (GRCm39) probably null Het
Dync1h1 T C 12: 110,609,563 (GRCm39) F2782L probably damaging Het
Ednrb A G 14: 104,054,516 (GRCm39) Y439H probably damaging Het
Ferd3l T C 12: 33,978,748 (GRCm39) V87A probably benign Het
Gphn T A 12: 78,579,467 (GRCm39) S320T probably benign Het
Gpr39 C T 1: 125,800,349 (GRCm39) H367Y probably damaging Het
Hspa4l A T 3: 40,736,125 (GRCm39) N582I possibly damaging Het
Ighv1-85 A T 12: 115,963,836 (GRCm39) W55R probably damaging Het
Lelp1 A C 3: 92,042,714 (GRCm39) C112G unknown Het
Lrba A G 3: 86,192,331 (GRCm39) M82V possibly damaging Het
Macrod2 C A 2: 141,652,549 (GRCm39) T204K probably damaging Het
Map2 A T 1: 66,455,714 (GRCm39) probably benign Het
Ncor1 T C 11: 62,235,513 (GRCm39) K647R probably damaging Het
Nr4a3 A T 4: 48,056,699 (GRCm39) Y417F probably damaging Het
Nup50l G A 6: 96,142,933 (GRCm39) T37I possibly damaging Het
Obox7 C A 7: 14,398,122 (GRCm39) S54* probably null Het
Or2n1c A G 17: 38,519,174 (GRCm39) I13V probably benign Het
Or52r1c T G 7: 102,735,501 (GRCm39) Y254D probably damaging Het
Or9g20 T A 2: 85,630,342 (GRCm39) I91L probably benign Het
Pappa2 A T 1: 158,662,488 (GRCm39) Y1162* probably null Het
Pcdhb19 T A 18: 37,630,442 (GRCm39) I79K probably benign Het
Pi4k2a C T 19: 42,079,370 (GRCm39) Q144* probably null Het
Pigc T A 1: 161,798,663 (GRCm39) M215K probably benign Het
Pnma8a T A 7: 16,694,150 (GRCm39) S2T probably damaging Het
Ppfia4 T C 1: 134,237,398 (GRCm39) E967G probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rims3 A G 4: 120,740,352 (GRCm39) T100A probably damaging Het
Serpinb9 A T 13: 33,192,002 (GRCm39) N61I possibly damaging Het
Sis A G 3: 72,850,856 (GRCm39) M614T probably benign Het
Slc6a17 C T 3: 107,400,401 (GRCm39) V243I probably benign Het
Smad9 A T 3: 54,693,602 (GRCm39) Y177F probably benign Het
Vmn2r69 T C 7: 85,061,029 (GRCm39) D185G probably damaging Het
Vps36 G T 8: 22,682,899 (GRCm39) V5L probably benign Het
Vwa8 T A 14: 79,300,136 (GRCm39) probably benign Het
Other mutations in Or8b101
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01384:Or8b101 APN 9 38,020,858 (GRCm39) missense probably damaging 1.00
IGL02158:Or8b101 APN 9 38,020,425 (GRCm39) missense probably benign 0.09
IGL02713:Or8b101 APN 9 38,020,623 (GRCm39) missense probably damaging 0.99
BB007:Or8b101 UTSW 9 38,020,264 (GRCm39) missense possibly damaging 0.60
BB017:Or8b101 UTSW 9 38,020,264 (GRCm39) missense possibly damaging 0.60
R0007:Or8b101 UTSW 9 38,020,390 (GRCm39) missense possibly damaging 0.94
R0125:Or8b101 UTSW 9 38,020,815 (GRCm39) missense probably benign 0.03
R0310:Or8b101 UTSW 9 38,020,782 (GRCm39) missense possibly damaging 0.54
R1671:Or8b101 UTSW 9 38,020,428 (GRCm39) missense probably benign
R3687:Or8b101 UTSW 9 38,020,177 (GRCm39) missense probably damaging 1.00
R3704:Or8b101 UTSW 9 38,020,299 (GRCm39) missense possibly damaging 0.95
R3824:Or8b101 UTSW 9 38,020,134 (GRCm39) missense possibly damaging 0.71
R3825:Or8b101 UTSW 9 38,020,134 (GRCm39) missense possibly damaging 0.71
R4254:Or8b101 UTSW 9 38,020,546 (GRCm39) missense probably damaging 1.00
R4828:Or8b101 UTSW 9 38,020,036 (GRCm39) missense probably damaging 0.98
R7265:Or8b101 UTSW 9 38,020,227 (GRCm39) missense possibly damaging 0.78
R7918:Or8b101 UTSW 9 38,020,103 (GRCm39) nonsense probably null
R7930:Or8b101 UTSW 9 38,020,264 (GRCm39) missense possibly damaging 0.60
R8062:Or8b101 UTSW 9 38,020,213 (GRCm39) missense probably damaging 1.00
R8355:Or8b101 UTSW 9 38,020,258 (GRCm39) missense probably benign 0.00
R9213:Or8b101 UTSW 9 38,020,426 (GRCm39) missense possibly damaging 0.69
R9250:Or8b101 UTSW 9 38,020,718 (GRCm39) nonsense probably null
Z1088:Or8b101 UTSW 9 38,020,882 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CACCTCCATCAATGAGCTGG -3'
(R):5'- GACACTGAGTTATTCATTCAGTCCTC -3'

Sequencing Primer
(F):5'- CCATCAATGAGCTGGTAGTTTTC -3'
(R):5'- GTCCTCTCCAAAATTGTAAATCTGAC -3'
Posted On 2015-01-23