Incidental Mutation 'R5532:Or8b40'
ID 436227
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 043090-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R5532 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 38027094-38028023 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 38027923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 277 (T277I)
Ref Sequence ENSEMBL: ENSMUSP00000148913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072290] [ENSMUST00000217286]
AlphaFold L7N1Y6
Predicted Effect probably benign
Transcript: ENSMUST00000072290
AA Change: T282I

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000072137
Gene: ENSMUSG00000096356
AA Change: T282I

DomainStartEndE-ValueType
Pfam:7tm_4 36 311 4.4e-50 PFAM
Pfam:7tm_1 46 293 1e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213042
AA Change: T277I
Predicted Effect probably benign
Transcript: ENSMUST00000217286
AA Change: T277I

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,530,293 (GRCm39) probably null Het
Adsl C G 15: 80,848,110 (GRCm39) P118A probably damaging Het
Ano6 C T 15: 95,860,122 (GRCm39) P748L probably damaging Het
Arhgap10 A T 8: 78,146,701 (GRCm39) N234K probably benign Het
Arhgap18 T A 10: 26,722,104 (GRCm39) I25K possibly damaging Het
AW551984 T C 9: 39,508,481 (GRCm39) Y345C probably damaging Het
Ccdc146 A G 5: 21,510,329 (GRCm39) V561A probably benign Het
Cenpv G A 11: 62,418,398 (GRCm39) T185M probably damaging Het
Fat2 T A 11: 55,153,163 (GRCm39) D3683V probably damaging Het
Galns T C 8: 123,311,765 (GRCm39) D415G possibly damaging Het
Gatad2a G A 8: 70,369,070 (GRCm39) T259M probably damaging Het
Gja8 T C 3: 96,827,648 (GRCm39) S5G probably benign Het
Ifi209 T C 1: 173,466,542 (GRCm39) S125P probably damaging Het
Iigp1c A G 18: 60,379,142 (GRCm39) I226V probably benign Het
Il12rb2 G A 6: 67,269,246 (GRCm39) R856W probably damaging Het
Kcnq3 A T 15: 65,869,622 (GRCm39) Y605* probably null Het
Klk1b16 T C 7: 43,790,950 (GRCm39) S251P probably benign Het
Map2 A G 1: 66,453,779 (GRCm39) N890D probably damaging Het
Map4 T A 9: 109,863,746 (GRCm39) S324T probably benign Het
Mmp28 T C 11: 83,333,684 (GRCm39) D419G probably damaging Het
Mtnr1b A G 9: 15,774,210 (GRCm39) L283P probably benign Het
Ndufb7 T A 8: 84,298,063 (GRCm39) Y95N probably damaging Het
Nfrkb C T 9: 31,309,075 (GRCm39) R280W probably damaging Het
Npc1l1 A G 11: 6,174,245 (GRCm39) Y687H probably damaging Het
Or6f1 A C 7: 85,970,879 (GRCm39) F94V possibly damaging Het
Or8g51 T C 9: 38,608,943 (GRCm39) T240A probably damaging Het
Or8h9 T A 2: 86,788,924 (GRCm39) R293* probably null Het
Pabpc4l T C 3: 46,401,044 (GRCm39) D200G probably benign Het
Plekhg6 T C 6: 125,349,514 (GRCm39) E361G possibly damaging Het
Pramel31 A T 4: 144,090,061 (GRCm39) D367V probably damaging Het
Rictor A G 15: 6,819,046 (GRCm39) Y1423C probably damaging Het
Rsf1 G A 7: 97,329,902 (GRCm39) D1143N probably damaging Het
Spsb4 C T 9: 96,877,627 (GRCm39) probably null Het
Strada G T 11: 106,061,843 (GRCm39) A136E probably damaging Het
Syce2 A T 8: 85,610,131 (GRCm39) Q73L probably damaging Het
Teddm2 A T 1: 153,726,130 (GRCm39) V195D probably benign Het
Tex36 A T 7: 133,203,712 (GRCm39) N12K probably benign Het
Ubtf A G 11: 102,199,785 (GRCm39) S484P probably benign Het
Ufd1 T G 16: 18,636,680 (GRCm39) L66R probably damaging Het
Vmn2r74 C T 7: 85,601,197 (GRCm39) A814T probably benign Het
Vmn2r98 T C 17: 19,287,645 (GRCm39) S493P possibly damaging Het
Xrcc1 T A 7: 24,267,353 (GRCm39) probably null Het
Zfp277 A C 12: 40,385,308 (GRCm39) C305G probably damaging Het
Zfp998 A T 13: 66,579,740 (GRCm39) C248S 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
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'- AGCTCTCCTGCACAAGTACC -3'
(R):5'- ACCGCTCTTGCAGATATGAC -3'

Sequencing Primer
(F):5'- GTACCTACATCAATGAGCTGGTAG -3'
(R):5'- CCGCTCTTGCAGATATGACATAGG -3'
Posted On 2016-10-24