Incidental Mutation 'R0948:Or8b1'
ID 81714
Institutional Source Beutler Lab
Gene Symbol Or8b1
Ensembl Gene ENSMUSG00000039962
Gene Name olfactory receptor family 8 subfamily B member 1
Synonyms Olfr906, GA_x6K02T2PVTD-32194085-32195020, MOR167-2
MMRRC Submission 039087-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R0948 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 38399327-38400262 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 38400244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 306 (S306R)
Ref Sequence ENSEMBL: ENSMUSP00000151008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045493] [ENSMUST00000214344]
AlphaFold K7N5P3
Predicted Effect probably benign
Transcript: ENSMUST00000045493
AA Change: S306R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000039040
Gene: ENSMUSG00000039962
AA Change: S306R

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3.6e-50 PFAM
Pfam:7tm_1 41 290 2.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214344
AA Change: S306R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.4%
  • 20x: 92.4%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik C T 19: 8,867,390 (GRCm39) T63M probably damaging Het
Abcb1a T A 5: 8,790,621 (GRCm39) probably null Het
Ahrr T C 13: 74,361,888 (GRCm39) D537G probably damaging Het
Anxa4 T A 6: 86,718,913 (GRCm39) I269F probably damaging Het
Aoc1l1 A G 6: 48,953,278 (GRCm39) Y401C probably damaging Het
Atm A T 9: 53,407,258 (GRCm39) M1160K probably benign Het
Ccdc175 A G 12: 72,177,897 (GRCm39) Y434H probably damaging Het
Col19a1 C T 1: 24,335,882 (GRCm39) A855T probably damaging Het
Cyp2a4 A G 7: 26,010,213 (GRCm39) D246G probably damaging Het
Dmbt1 T C 7: 130,694,847 (GRCm39) L840P possibly damaging Het
Dock6 A T 9: 21,712,829 (GRCm39) D2009E probably damaging Het
E2f3 C T 13: 30,169,516 (GRCm39) A46T probably damaging Het
Ect2l A T 10: 18,016,334 (GRCm39) C635S probably damaging Het
Fer1l6 A G 15: 58,435,924 (GRCm39) D439G probably benign Het
Hao1 A C 2: 134,372,693 (GRCm39) M105R probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Igsf10 A G 3: 59,238,525 (GRCm39) I552T probably damaging Het
Il31ra A G 13: 112,666,912 (GRCm39) S470P possibly damaging Het
Mfsd1 A G 3: 67,504,067 (GRCm39) N353S possibly damaging Het
Mga T A 2: 119,772,140 (GRCm39) F1667I possibly damaging Het
Niban2 A G 2: 32,812,872 (GRCm39) Y480C probably damaging Het
Nwd2 T C 5: 63,964,655 (GRCm39) V1413A probably damaging Het
Or8b50 G A 9: 38,517,787 (GRCm39) V9I possibly damaging Het
Osbpl10 T A 9: 114,996,187 (GRCm39) V119E probably damaging Het
Plec C A 15: 76,089,887 (GRCm39) R151L probably benign Het
Ptpn12 T C 5: 21,203,041 (GRCm39) H579R probably benign Het
Rnase4 G T 14: 51,342,362 (GRCm39) G29C probably damaging Het
Sim1 C A 10: 50,857,423 (GRCm39) S391* probably null Het
Sobp A T 10: 42,898,205 (GRCm39) I460N probably damaging Het
Spns3 A T 11: 72,436,766 (GRCm39) D75E probably damaging Het
Strn4 T A 7: 16,571,638 (GRCm39) C26* probably null Het
Tacstd2 T A 6: 67,512,102 (GRCm39) I197L probably damaging Het
Trpc6 A G 9: 8,610,416 (GRCm39) T295A possibly damaging Het
Txnl1 G T 18: 63,825,191 (GRCm39) S18R possibly damaging Het
U2surp A G 9: 95,343,550 (GRCm39) probably benign Het
Ube2frt A T 12: 36,140,934 (GRCm39) probably benign Het
Vwce A G 19: 10,630,441 (GRCm39) Y500C probably damaging Het
Wdr49 A C 3: 75,358,158 (GRCm39) S196A probably benign Het
Wfs1 T C 5: 37,124,905 (GRCm39) Y662C probably damaging Het
Wnt8b A C 19: 44,498,968 (GRCm39) D133A possibly damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zfp532 C A 18: 65,756,889 (GRCm39) A274E probably damaging Het
Zfp74 A G 7: 29,635,362 (GRCm39) probably null Het
Other mutations in Or8b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03127:Or8b1 APN 9 38,399,882 (GRCm39) missense probably benign 0.13
R1236:Or8b1 UTSW 9 38,399,525 (GRCm39) missense probably damaging 1.00
R1246:Or8b1 UTSW 9 38,400,086 (GRCm39) missense probably damaging 1.00
R1442:Or8b1 UTSW 9 38,399,939 (GRCm39) missense probably benign 0.10
R2016:Or8b1 UTSW 9 38,399,309 (GRCm39) critical splice acceptor site probably null
R2264:Or8b1 UTSW 9 38,399,351 (GRCm39) missense possibly damaging 0.50
R2268:Or8b1 UTSW 9 38,399,504 (GRCm39) missense probably damaging 1.00
R3853:Or8b1 UTSW 9 38,400,247 (GRCm39) missense probably benign 0.18
R4066:Or8b1 UTSW 9 38,399,778 (GRCm39) missense probably benign 0.17
R4594:Or8b1 UTSW 9 38,400,057 (GRCm39) missense probably damaging 0.98
R5192:Or8b1 UTSW 9 38,400,101 (GRCm39) missense possibly damaging 0.69
R5436:Or8b1 UTSW 9 38,399,835 (GRCm39) missense probably benign 0.31
R5598:Or8b1 UTSW 9 38,399,821 (GRCm39) missense possibly damaging 0.77
R5694:Or8b1 UTSW 9 38,399,532 (GRCm39) missense probably damaging 1.00
R5914:Or8b1 UTSW 9 38,399,657 (GRCm39) missense probably damaging 1.00
R5959:Or8b1 UTSW 9 38,400,207 (GRCm39) missense probably damaging 1.00
R6318:Or8b1 UTSW 9 38,399,673 (GRCm39) missense probably benign
R6870:Or8b1 UTSW 9 38,399,382 (GRCm39) missense probably benign 0.19
R7482:Or8b1 UTSW 9 38,399,747 (GRCm39) missense probably damaging 0.99
R7571:Or8b1 UTSW 9 38,399,952 (GRCm39) missense probably benign 0.08
R7917:Or8b1 UTSW 9 38,399,905 (GRCm39) nonsense probably null
R8837:Or8b1 UTSW 9 38,399,597 (GRCm39) missense probably benign 0.05
R9562:Or8b1 UTSW 9 38,400,092 (GRCm39) missense possibly damaging 0.45
R9628:Or8b1 UTSW 9 38,399,871 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- TCCAGCATTTTCCACATCAACTCCAAT -3'
(R):5'- TGTGCCAGAAAGTAATAAAGAGGGCATT -3'

Sequencing Primer
(F):5'- TCAACTCCAATGAGGGCAG -3'
(R):5'- attaGCAAAATTTCATCTCAGCATTC -3'
Posted On 2013-11-08