Incidental Mutation 'R6751:Or8b40'
ID 530776
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 044868-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R6751 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 38027094-38028023 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 38027271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 60 (Y60D)
Ref Sequence ENSEMBL: ENSMUSP00000148913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072290] [ENSMUST00000211851] [ENSMUST00000217286]
AlphaFold L7N1Y6
Predicted Effect probably damaging
Transcript: ENSMUST00000072290
AA Change: Y65D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072137
Gene: ENSMUSG00000096356
AA Change: Y65D

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 probably damaging
Transcript: ENSMUST00000217286
AA Change: Y60D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 95% (59/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,771,971 (GRCm39) N387Y probably damaging Het
Abhd17a T C 10: 80,422,421 (GRCm39) E87G probably damaging Het
Aco1 T A 4: 40,188,330 (GRCm39) probably null Het
Adcy6 T C 15: 98,494,086 (GRCm39) N817S probably benign Het
Ak8 T A 2: 28,599,957 (GRCm39) L63* probably null Het
Arhgef28 G A 13: 98,211,755 (GRCm39) S76L probably damaging Het
Asap1 A G 15: 63,966,261 (GRCm39) L891S possibly damaging Het
Cacng5 C A 11: 107,768,379 (GRCm39) M209I probably benign Het
Casr T C 16: 36,335,950 (GRCm39) I120V probably benign Het
Ccnq T C 11: 78,641,950 (GRCm39) Y180C probably damaging Het
Chd7 T C 4: 8,833,866 (GRCm39) Y1207H probably damaging Het
Chrnb2 A T 3: 89,668,883 (GRCm39) F144Y probably damaging Het
Cyp4a14 T A 4: 115,348,391 (GRCm39) H362L probably damaging Het
Dnaaf4 A G 9: 72,869,257 (GRCm39) T156A probably benign Het
Dym G A 18: 75,419,718 (GRCm39) V630M probably damaging Het
Dync2i1 A T 12: 116,177,076 (GRCm39) V842E possibly damaging Het
Dyrk1b C A 7: 27,886,134 (GRCm39) P619Q probably damaging Het
Eml5 T C 12: 98,831,659 (GRCm39) D433G probably damaging Het
Frem2 A T 3: 53,561,086 (GRCm39) S1140R probably damaging Het
Gabra5 T C 7: 57,068,082 (GRCm39) R255G probably damaging Het
Galnt17 T A 5: 131,110,428 (GRCm39) I304F probably damaging Het
Gpc5 A G 14: 115,607,363 (GRCm39) S322G probably benign Het
Herc1 TCCC TCC 9: 66,408,470 (GRCm39) probably null Het
Hmcn1 T A 1: 150,610,269 (GRCm39) N1467Y probably damaging Het
Ifna6 T C 4: 88,745,987 (GRCm39) L112P probably damaging Het
Ifrd1 C T 12: 40,253,913 (GRCm39) probably null Het
Il17f A G 1: 20,849,713 (GRCm39) M17T probably benign Het
Itga11 G A 9: 62,675,866 (GRCm39) V892I probably benign Het
Nckap5l A G 15: 99,321,042 (GRCm39) L1246P probably damaging Het
Nlrp4f A T 13: 65,342,243 (GRCm39) H467Q probably damaging Het
Ntng2 A G 2: 29,118,055 (GRCm39) V131A possibly damaging Het
Or51r1 G A 7: 102,227,706 (GRCm39) M1I probably null Het
Or8g37 T A 9: 39,731,193 (GRCm39) V86E probably benign Het
Or8g55 T C 9: 39,784,976 (GRCm39) V135A probably benign Het
Osbpl8 T C 10: 111,110,874 (GRCm39) Y459H possibly damaging Het
Pabpc1 A T 15: 36,597,778 (GRCm39) V537D possibly damaging Het
Pde4b A T 4: 102,459,868 (GRCm39) M583L probably damaging Het
Phlda1 T C 10: 111,342,555 (GRCm39) V97A possibly damaging Het
Pik3cb G T 9: 98,976,574 (GRCm39) H174Q probably benign Het
Plxdc2 A T 2: 16,552,952 (GRCm39) I117F probably benign Het
Psapl1 C A 5: 36,362,303 (GRCm39) C298* probably null Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Homo
Rtkn2 T A 10: 67,877,283 (GRCm39) F448I probably benign Het
Scn10a T C 9: 119,500,617 (GRCm39) R221G probably damaging Het
Serpina3c A G 12: 104,117,759 (GRCm39) L193P probably damaging Het
Sox12 T C 2: 152,238,678 (GRCm39) Y314C probably damaging Het
Spata31h1 A G 10: 82,119,331 (GRCm39) S4560P probably benign Het
Sptbn1 T C 11: 30,067,859 (GRCm39) E1772G probably damaging Het
Supt6 A G 11: 78,099,775 (GRCm39) V1570A probably benign Het
Synrg T C 11: 83,872,251 (GRCm39) F125S probably damaging Het
Tenm4 A T 7: 96,494,919 (GRCm39) I1116F possibly damaging Het
Tfap2a T A 13: 40,882,230 (GRCm39) N25I probably damaging Het
Tfap2d C A 1: 19,173,507 (GRCm39) H10N possibly damaging Het
Trpm8 T C 1: 88,312,428 (GRCm39) I1103T possibly damaging Het
Vmn1r158 C T 7: 22,489,306 (GRCm39) C301Y probably damaging Het
Vmn2r56 T C 7: 12,428,719 (GRCm39) I516V probably benign Het
Vmn2r71 G A 7: 85,269,095 (GRCm39) probably null Het
Vnn3 C T 10: 23,745,523 (GRCm39) R491C probably benign Het
Vps50 A G 6: 3,600,274 (GRCm39) Y911C probably damaging Het
Zfp772 C T 7: 7,206,716 (GRCm39) R325Q possibly damaging Het
Zranb3 T A 1: 127,887,556 (GRCm39) H957L probably benign Het
Zscan20 G T 4: 128,479,668 (GRCm39) T941K probably damaging Het
Zscan25 T A 5: 145,227,373 (GRCm39) F346I probably damaging 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
R0409:Or8b40 UTSW 9 38,027,547 (GRCm39) missense probably benign
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
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'- ACTGTCCTTGCAGATATGAAATAGGG -3'
(R):5'- GCAGCATATCTGTCATAGGCC -3'

Sequencing Primer
(F):5'- GAAGAATGGCTGTAGGAAATTCC -3'
(R):5'- GGCCATTGCTGTCAAAATGTAGC -3'
Posted On 2018-08-01