Incidental Mutation 'R5273:Or8d6'
ID 403768
Institutional Source Beutler Lab
Gene Symbol Or8d6
Ensembl Gene ENSMUSG00000051493
Gene Name olfactory receptor family 8 subfamily D member 6
Synonyms Olfr974, GA_x6K02T2PVTD-33640290-33641222, MOR171-1
MMRRC Submission 042862-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R5273 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 39853355-39854490 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 39853853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 99 (V99A)
Ref Sequence ENSEMBL: ENSMUSP00000149630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062833] [ENSMUST00000213246]
AlphaFold Q8VH09
Predicted Effect probably benign
Transcript: ENSMUST00000062833
AA Change: V99A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062985
Gene: ENSMUSG00000051493
AA Change: V99A

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 3.6e-52 PFAM
Pfam:7tm_1 41 290 1.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213246
AA Change: V99A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T C 14: 118,832,233 (GRCm39) N799S possibly damaging Het
Arhgap20 A G 9: 51,759,916 (GRCm39) N589S probably damaging Het
Armc10 C T 5: 21,858,426 (GRCm39) A157V possibly damaging Het
Atp2b2 A G 6: 113,736,193 (GRCm39) L958P probably damaging Het
Bhmt2 G A 13: 93,803,086 (GRCm39) A149V possibly damaging Het
Ccdc7a CATCAGCTGATAT CAT 8: 129,788,090 (GRCm39) probably null Het
Cntnap4 A G 8: 113,460,070 (GRCm39) D141G probably damaging Het
Cplane1 T C 15: 8,273,825 (GRCm39) S2603P probably damaging Het
Cplane1 T C 15: 8,292,422 (GRCm39) S3012P unknown Het
Dis3 A G 14: 99,336,242 (GRCm39) V88A probably benign Het
Dnajc21 A T 15: 10,454,893 (GRCm39) C316S probably damaging Het
Dnhd1 A G 7: 105,363,689 (GRCm39) T4084A probably damaging Het
Dock3 A C 9: 106,777,904 (GRCm39) probably null Het
Eml5 T C 12: 98,756,947 (GRCm39) H1894R probably damaging Het
Galc T C 12: 98,218,330 (GRCm39) Y174C probably damaging Het
Gm4841 C T 18: 60,403,815 (GRCm39) V93I probably benign Het
Gm7995 T C 14: 42,133,413 (GRCm39) Y98H probably damaging Het
Gnrhr T A 5: 86,330,105 (GRCm39) H305L possibly damaging Het
Gpr179 A T 11: 97,238,256 (GRCm39) F323I probably damaging Het
Kdm6b G T 11: 69,295,027 (GRCm39) P1080Q unknown Het
Man2a1 C T 17: 65,040,780 (GRCm39) T126I probably damaging Het
Mdm4 G A 1: 132,922,320 (GRCm39) T274M probably benign Het
Mug1 T A 6: 121,850,748 (GRCm39) V748E probably damaging Het
Nav3 A T 10: 109,528,899 (GRCm39) probably null Het
Nhsl3 T C 4: 129,118,005 (GRCm39) T208A possibly damaging Het
Or8g36 A G 9: 39,422,795 (GRCm39) S74P possibly damaging Het
Pcdhb1 T C 18: 37,398,766 (GRCm39) V239A probably benign Het
Ppic T A 18: 53,542,330 (GRCm39) H126L probably damaging Het
Sdk1 T C 5: 141,984,583 (GRCm39) F463L probably damaging Het
Shroom1 A G 11: 53,354,671 (GRCm39) E197G possibly damaging Het
Slc22a14 A G 9: 118,999,704 (GRCm39) S496P probably benign Het
Slc27a1 G A 8: 72,036,900 (GRCm39) G379S probably benign Het
Slco1a5 T C 6: 142,187,824 (GRCm39) E505G probably benign Het
Snrpe A C 1: 133,537,518 (GRCm39) probably benign Het
Sp100 G T 1: 85,636,825 (GRCm39) V299F possibly damaging Het
Stard9 A G 2: 120,535,568 (GRCm39) S3942G possibly damaging Het
Ttn A G 2: 76,644,948 (GRCm39) V12969A probably damaging Het
Txndc11 T C 16: 10,946,487 (GRCm39) Q108R probably benign Het
Wnk4 A T 11: 101,154,695 (GRCm39) I295F probably damaging Het
Other mutations in Or8d6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Or8d6 APN 9 39,853,976 (GRCm39) missense probably benign 0.08
IGL01638:Or8d6 APN 9 39,853,816 (GRCm39) missense probably benign 0.03
IGL02826:Or8d6 APN 9 39,854,254 (GRCm39) missense probably damaging 1.00
IGL03136:Or8d6 APN 9 39,854,332 (GRCm39) missense probably damaging 1.00
H2330:Or8d6 UTSW 9 39,854,216 (GRCm39) missense probably damaging 1.00
R0005:Or8d6 UTSW 9 39,854,252 (GRCm39) missense probably benign
R0106:Or8d6 UTSW 9 39,854,119 (GRCm39) frame shift probably null
R1769:Or8d6 UTSW 9 39,854,251 (GRCm39) missense probably benign 0.43
R1870:Or8d6 UTSW 9 39,854,117 (GRCm39) missense probably damaging 0.99
R4416:Or8d6 UTSW 9 39,853,724 (GRCm39) missense probably damaging 1.00
R4860:Or8d6 UTSW 9 39,853,800 (GRCm39) missense probably benign 0.04
R4860:Or8d6 UTSW 9 39,853,800 (GRCm39) missense probably benign 0.04
R5105:Or8d6 UTSW 9 39,853,694 (GRCm39) missense probably benign 0.19
R6520:Or8d6 UTSW 9 39,853,658 (GRCm39) missense possibly damaging 0.90
R7203:Or8d6 UTSW 9 39,853,805 (GRCm39) missense probably benign 0.01
R7923:Or8d6 UTSW 9 39,854,263 (GRCm39) nonsense probably null
R8037:Or8d6 UTSW 9 39,854,177 (GRCm39) missense probably damaging 0.98
R8038:Or8d6 UTSW 9 39,854,177 (GRCm39) missense probably damaging 0.98
R8712:Or8d6 UTSW 9 39,853,891 (GRCm39) missense probably damaging 0.99
Predicted Primers
Posted On 2016-07-22