Incidental Mutation 'R0409:Or8b40'
ID 36522
Institutional Source Beutler Lab
Gene Symbol Or8b40
Ensembl Gene ENSMUSG00000096356
Gene Name olfactory receptor family 8 subfamily B member 40
Synonyms GA_x6K02T2PVTD-31795028-31795957, Olfr889, MOR162-2
MMRRC Submission 038611-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R0409 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 38027094-38028023 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 38027547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 152 (L152F)
Ref Sequence ENSEMBL: ENSMUSP00000148913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072290] [ENSMUST00000211851] [ENSMUST00000217286]
AlphaFold L7N1Y6
Predicted Effect probably benign
Transcript: ENSMUST00000072290
AA Change: L157F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000072137
Gene: ENSMUSG00000096356
AA Change: L157F

DomainStartEndE-ValueType
Pfam:7tm_4 36 311 4.4e-50 PFAM
Pfam:7tm_1 46 293 1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000211851
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213042
AA Change: L152F
Predicted Effect probably benign
Transcript: ENSMUST00000217286
AA Change: L152F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.8%
Validation Efficiency 100% (55/55)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik G T 10: 87,061,816 (GRCm39) A89S probably damaging Het
Alkbh3 T A 2: 93,831,793 (GRCm39) I146F possibly damaging Het
Aox1 A T 1: 58,375,783 (GRCm39) I871F possibly damaging Het
Birc2 A C 9: 7,819,385 (GRCm39) V509G possibly damaging Het
Car7 G A 8: 105,275,056 (GRCm39) A165T probably damaging Het
Ccdc81 A G 7: 89,535,423 (GRCm39) V271A probably benign Het
Cdc40 G T 10: 40,723,164 (GRCm39) H302N probably damaging Het
Cep104 C T 4: 154,067,510 (GRCm39) probably benign Het
Cfap54 C A 10: 92,612,075 (GRCm39) S3161I probably benign Het
Chil5 A G 3: 105,942,282 (GRCm39) probably benign Het
Chil6 C T 3: 106,311,492 (GRCm39) G96D probably benign Het
Cnot1 T C 8: 96,475,483 (GRCm39) K531E probably damaging Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Disp3 T G 4: 148,356,416 (GRCm39) E148A probably damaging Het
Eps8l2 A G 7: 140,922,893 (GRCm39) Y52C probably damaging Het
Exph5 C A 9: 53,285,643 (GRCm39) T908K probably benign Het
Fat4 C T 3: 39,031,562 (GRCm39) S2449F probably damaging Het
Faxc T A 4: 21,948,751 (GRCm39) N154K probably benign Het
Fbxo43 C T 15: 36,162,503 (GRCm39) A235T probably benign Het
Fnip1 A G 11: 54,371,180 (GRCm39) probably null Het
Fsd1l T C 4: 53,679,932 (GRCm39) L210P probably benign Het
Gm6420 A C 1: 23,295,119 (GRCm39) S123R unknown Het
Gm8801 T G 17: 36,258,268 (GRCm39) noncoding transcript Het
Gmfb T C 14: 47,053,679 (GRCm39) I36V probably benign Het
Gsap G A 5: 21,427,443 (GRCm39) probably benign Het
Hectd1 T A 12: 51,829,339 (GRCm39) I969L possibly damaging Het
Il21r G T 7: 125,229,012 (GRCm39) probably benign Het
Lrrc7 A G 3: 157,867,063 (GRCm39) F893L possibly damaging Het
Map2 A G 1: 66,472,739 (GRCm39) I1715V probably damaging Het
Mlh3 A G 12: 85,287,628 (GRCm39) I1339T possibly damaging Het
Nacad T C 11: 6,549,810 (GRCm39) D1127G probably benign Het
Noc3l A G 19: 38,806,371 (GRCm39) probably benign Het
Nup93 A G 8: 95,030,293 (GRCm39) D384G probably damaging Het
Or5m9b T A 2: 85,905,646 (GRCm39) C187* probably null Het
Or5p54 T C 7: 107,554,433 (GRCm39) I195T probably benign Het
Pls1 A T 9: 95,668,972 (GRCm39) probably benign Het
Prkcb A T 7: 122,024,200 (GRCm39) H75L probably damaging Het
Rev1 A T 1: 38,113,449 (GRCm39) Y539* probably null Het
Rnf10 A T 5: 115,393,506 (GRCm39) probably benign Het
Rnpepl1 A G 1: 92,843,582 (GRCm39) Y234C probably damaging Het
Sdk2 T C 11: 113,741,717 (GRCm39) probably benign Het
Sec23b T A 2: 144,409,832 (GRCm39) M240K probably benign Het
Sema5a A T 15: 32,681,755 (GRCm39) N945Y probably damaging Het
Snapc4 C A 2: 26,257,228 (GRCm39) R799L probably benign Het
Spata31g1 A C 4: 42,972,203 (GRCm39) K512T probably damaging Het
Tctn3 T C 19: 40,599,860 (GRCm39) probably benign Het
Tex56 A T 13: 35,108,532 (GRCm39) I5L probably benign Het
Tfpt G A 7: 3,623,898 (GRCm39) Q50* probably null Het
Trim80 T C 11: 115,332,039 (GRCm39) V77A probably damaging Het
Trp73 T A 4: 154,148,841 (GRCm39) D256V possibly damaging Het
Utrn G T 10: 12,519,345 (GRCm39) N2202K probably benign Het
Vps13c T A 9: 67,858,926 (GRCm39) F2792Y probably benign Het
Other mutations in Or8b40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02201:Or8b40 APN 9 38,027,893 (GRCm39) missense probably benign 0.02
IGL02604:Or8b40 APN 9 38,027,148 (GRCm39) nonsense probably null
IGL02727:Or8b40 APN 9 38,027,808 (GRCm39) missense probably damaging 0.99
R0364:Or8b40 UTSW 9 38,027,325 (GRCm39) missense probably benign 0.26
R0387:Or8b40 UTSW 9 38,027,066 (GRCm39) splice site probably null
R0515:Or8b40 UTSW 9 38,027,313 (GRCm39) missense probably damaging 1.00
R0693:Or8b40 UTSW 9 38,027,325 (GRCm39) missense probably benign 0.26
R1554:Or8b40 UTSW 9 38,027,230 (GRCm39) missense probably benign 0.01
R1972:Or8b40 UTSW 9 38,027,863 (GRCm39) missense possibly damaging 0.79
R1973:Or8b40 UTSW 9 38,027,863 (GRCm39) missense possibly damaging 0.79
R3815:Or8b40 UTSW 9 38,027,922 (GRCm39) missense possibly damaging 0.94
R3816:Or8b40 UTSW 9 38,027,922 (GRCm39) missense possibly damaging 0.94
R3817:Or8b40 UTSW 9 38,027,922 (GRCm39) missense possibly damaging 0.94
R3819:Or8b40 UTSW 9 38,027,922 (GRCm39) missense possibly damaging 0.94
R5532:Or8b40 UTSW 9 38,027,923 (GRCm39) missense probably benign 0.12
R5775:Or8b40 UTSW 9 38,027,423 (GRCm39) missense probably damaging 1.00
R5931:Or8b40 UTSW 9 38,027,670 (GRCm39) missense probably benign 0.00
R6458:Or8b40 UTSW 9 38,027,350 (GRCm39) missense possibly damaging 0.90
R6751:Or8b40 UTSW 9 38,027,271 (GRCm39) missense probably damaging 1.00
R7168:Or8b40 UTSW 9 38,027,959 (GRCm39) missense probably damaging 1.00
R7673:Or8b40 UTSW 9 38,027,523 (GRCm39) missense probably benign 0.00
R7698:Or8b40 UTSW 9 38,027,188 (GRCm39) nonsense probably null
R8432:Or8b40 UTSW 9 38,027,272 (GRCm39) missense probably damaging 1.00
R9034:Or8b40 UTSW 9 38,027,550 (GRCm39) missense possibly damaging 0.83
R9236:Or8b40 UTSW 9 38,027,496 (GRCm39) missense possibly damaging 0.47
R9561:Or8b40 UTSW 9 38,028,010 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTCTGCTGGGCTTGACACAAGAG -3'
(R):5'- ATCACATGGGAGCCACAGGTACTG -3'

Sequencing Primer
(F):5'- ACCATCTCTCATGCAGAGTG -3'
(R):5'- CAGAATGGATGCTGAGGATGTTG -3'
Posted On 2013-05-09