Incidental Mutation 'IGL03136:Or8d6'
ID 410529
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8d6
Ensembl Gene ENSMUSG00000051493
Gene Name olfactory receptor family 8 subfamily D member 6
Synonyms Olfr974, GA_x6K02T2PVTD-33640290-33641222, MOR171-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL03136
Quality Score
Status
Chromosome 9
Chromosomal Location 39853355-39854490 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 39854332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 259 (Y259H)
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: Y259H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062985
Gene: ENSMUSG00000051493
AA Change: Y259H

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: Y259H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
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
5730522E02Rik A G 11: 25,719,122 (GRCm39) L7S unknown Het
Abr C T 11: 76,316,121 (GRCm39) W571* probably null Het
Adam18 A T 8: 25,131,852 (GRCm39) C420S probably damaging Het
Akap5 G T 12: 76,376,649 (GRCm39) E694* probably null Het
Bbs1 T C 19: 4,941,019 (GRCm39) K565R probably benign Het
Brix1 A G 15: 10,478,852 (GRCm39) F189S probably damaging Het
Cnot4 C A 6: 35,028,176 (GRCm39) R480L probably damaging Het
Ctu2 A G 8: 123,205,940 (GRCm39) probably benign Het
Dhcr7 A G 7: 143,401,103 (GRCm39) H422R probably damaging Het
Dock1 A G 7: 134,770,118 (GRCm39) M1793V probably benign Het
Dock7 A G 4: 98,892,028 (GRCm39) F853L probably damaging Het
Fkbp15 G A 4: 62,258,466 (GRCm39) probably benign Het
Ftsj3 C T 11: 106,144,639 (GRCm39) D117N probably damaging Het
Gphn A G 12: 78,528,107 (GRCm39) I142V possibly damaging Het
Hsd3b1 G A 3: 98,760,301 (GRCm39) A230V probably damaging Het
Hydin G A 8: 111,145,156 (GRCm39) A836T probably benign Het
Ift52 G T 2: 162,867,254 (GRCm39) E71* probably null Het
Ms4a14 T C 19: 11,281,775 (GRCm39) D261G possibly damaging Het
Nid1 G A 13: 13,675,084 (GRCm39) V935I probably benign Het
Nrap T C 19: 56,330,687 (GRCm39) K1008E possibly damaging Het
Nup210 A C 6: 91,005,843 (GRCm39) V1340G probably benign Het
Or2aj4 A T 16: 19,385,103 (GRCm39) F177I probably damaging Het
Or5b94 T A 19: 12,652,331 (GRCm39) I254N probably damaging Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Pdcd6ip T A 9: 113,520,567 (GRCm39) N139I probably damaging Het
Pgbd1 A G 13: 21,617,609 (GRCm39) V80A possibly damaging Het
Pigw A G 11: 84,768,603 (GRCm39) I242T probably benign Het
Prtg T G 9: 72,764,267 (GRCm39) V580G possibly damaging Het
Ptpn13 T A 5: 103,691,329 (GRCm39) N1065K possibly damaging Het
Qrich1 G A 9: 108,422,117 (GRCm39) R577H probably damaging Het
Ryr3 G A 2: 112,506,319 (GRCm39) probably benign Het
Selenoi T C 5: 30,462,725 (GRCm39) Y197H probably damaging Het
Slc47a2 A G 11: 61,201,591 (GRCm39) C343R probably benign Het
Smurf2 A T 11: 106,721,874 (GRCm39) D527E probably benign Het
Spam1 C T 6: 24,797,010 (GRCm39) probably benign Het
Stkld1 T C 2: 26,841,435 (GRCm39) V460A probably benign Het
Tgoln1 G A 6: 72,591,096 (GRCm39) R339W probably damaging Het
Tprg1 T C 16: 25,231,512 (GRCm39) probably benign Het
Treml1 T G 17: 48,671,879 (GRCm39) probably benign Het
Ttc39b A T 4: 83,155,517 (GRCm39) V497E probably damaging Het
Vmn1r223 A G 13: 23,433,933 (GRCm39) T176A possibly damaging Het
Vmn2r75 A T 7: 85,797,911 (GRCm39) I634N possibly damaging Het
Vps13c A G 9: 67,857,592 (GRCm39) E2608G probably damaging Het
Zfp575 A G 7: 24,285,381 (GRCm39) C87R probably damaging Het
Zfp790 T A 7: 29,529,320 (GRCm39) Y668* probably null 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
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
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
Posted On 2016-08-02