Incidental Mutation 'R4416:Or8d6'
ID 326844
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 041137-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R4416 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 39853355-39854490 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39853724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 56 (H56R)
Ref Sequence ENSEMBL: ENSMUSP00000149630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062833] [ENSMUST00000213246]
AlphaFold Q8VH09
Predicted Effect probably damaging
Transcript: ENSMUST00000062833
AA Change: H56R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000062985
Gene: ENSMUSG00000051493
AA Change: H56R

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 3.6e-52 PFAM
Pfam:7tm_1 41 290 1.3e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213246
AA Change: H56R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T A 15: 59,888,272 (GRCm39) E56V possibly damaging Het
Adam28 A G 14: 68,859,531 (GRCm39) probably null Het
Bnc1 G T 7: 81,618,708 (GRCm39) H786N probably benign Het
Cav1 T A 6: 17,339,248 (GRCm39) M100K probably benign Het
Cdk9 A G 2: 32,598,084 (GRCm39) L273P probably damaging Het
Celsr1 A G 15: 85,812,200 (GRCm39) V2065A probably damaging Het
Cyp2c54 T C 19: 40,026,703 (GRCm39) Q484R probably benign Het
Elfn1 T C 5: 139,957,949 (GRCm39) S318P possibly damaging Het
Fbxl6 T C 15: 76,421,924 (GRCm39) E205G possibly damaging Het
Fhip2a G T 19: 57,373,829 (GRCm39) probably null Het
Frmd6 T A 12: 70,924,023 (GRCm39) Y94N probably benign Het
Gdpd1 A T 11: 86,926,114 (GRCm39) V277D probably benign Het
Grik1 C A 16: 87,848,349 (GRCm39) V140L probably benign Het
Grpel1 A G 5: 36,628,616 (GRCm39) H175R probably damaging Het
Gtdc1 G T 2: 44,465,602 (GRCm39) probably null Het
Hivep2 A T 10: 14,004,914 (GRCm39) Q504L probably benign Het
Icos A T 1: 61,033,849 (GRCm39) I160L probably benign Het
Igsf9b G T 9: 27,234,213 (GRCm39) C442F probably damaging Het
Itga10 T C 3: 96,565,562 (GRCm39) V1062A possibly damaging Het
Lrp1b C T 2: 40,553,679 (GRCm39) V386I unknown Het
Lrp2 G T 2: 69,357,575 (GRCm39) F409L probably benign Het
Nadk T G 4: 155,672,183 (GRCm39) Y291* probably null Het
Nudt6 A T 3: 37,459,378 (GRCm39) probably null Het
Oit3 T C 10: 59,263,925 (GRCm39) Y403C probably damaging Het
Or2ag1b G A 7: 106,288,218 (GRCm39) T240I probably benign Het
Or6c70 T C 10: 129,709,826 (GRCm39) T267A probably benign Het
Pasd1 G A X: 70,983,225 (GRCm39) C399Y possibly damaging Het
Pds5b C T 5: 150,659,861 (GRCm39) P275S probably damaging Het
Pdzd7 T A 19: 45,029,019 (GRCm39) E117V probably damaging Het
Pik3ca T C 3: 32,515,679 (GRCm39) V784A probably damaging Het
Polr3e T C 7: 120,538,280 (GRCm39) probably null Het
Rab3gap2 A T 1: 185,014,544 (GRCm39) D1231V probably benign Het
Rapgef2 C A 3: 78,976,364 (GRCm39) G1481* probably null Het
Rho G A 6: 115,912,191 (GRCm39) V76I probably benign Het
Rrm1 A G 7: 102,097,008 (GRCm39) D96G probably benign Het
Slc35b2 G A 17: 45,877,355 (GRCm39) V161M probably benign Het
Spmip6 T C 4: 41,505,574 (GRCm39) T183A possibly damaging Het
Srp9 A T 1: 181,958,976 (GRCm39) M50L probably benign Het
Stox1 T C 10: 62,495,348 (GRCm39) N975S probably benign Het
Sult1d1 A G 5: 87,706,435 (GRCm39) F169S probably damaging Het
Tmem63c C G 12: 87,128,676 (GRCm39) T567R probably benign Het
Tmf1 G T 6: 97,155,949 (GRCm39) F12L probably damaging Het
Ush2a T C 1: 188,089,071 (GRCm39) I342T probably damaging Het
Veph1 A T 3: 65,968,606 (GRCm39) N712K probably damaging Het
Vti1a T G 19: 55,369,380 (GRCm39) S91A probably benign 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
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
R5273:Or8d6 UTSW 9 39,853,853 (GRCm39) missense probably benign
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 PCR Primer
(F):5'- CACTCAACTCATCACATCTGGG -3'
(R):5'- GCAACGTAACGATCATATGCC -3'

Sequencing Primer
(F):5'- TCAACTCATCACATCTGGGAGAAG -3'
(R):5'- ACGATCATATGCCATGGCTG -3'
Posted On 2015-07-07