Incidental Mutation 'IGL01296:Or8d2'
ID 73106
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8d2
Ensembl Gene ENSMUSG00000062103
Gene Name olfactory receptor family 8 subfamily D member 2
Synonyms GA_x6K02T2PVTD-32543982-32544908, MOR171-47, MOR171-27P, Olfr924, MOR171-27P, Olfr1520-ps1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL01296
Quality Score
Status
Chromosome 9
Chromosomal Location 38759412-38760338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38759548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 46 (I46T)
Ref Sequence ENSEMBL: ENSMUSP00000149849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072977] [ENSMUST00000217350]
AlphaFold Q7TRB8
Predicted Effect probably damaging
Transcript: ENSMUST00000072977
AA Change: I46T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072744
Gene: ENSMUSG00000062103
AA Change: I46T

DomainStartEndE-ValueType
Pfam:7tm_4 28 305 4.6e-54 PFAM
Pfam:7TM_GPCR_Srsx 32 279 7.2e-7 PFAM
Pfam:7tm_1 38 287 1.6e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217350
AA Change: I46T

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl A G 1: 66,880,864 (GRCm39) S301P probably damaging Het
Adam34 A G 8: 44,104,178 (GRCm39) V489A possibly damaging Het
Adcy8 G A 15: 64,655,628 (GRCm39) T617I probably damaging Het
Aggf1 T C 13: 95,490,479 (GRCm39) D605G probably damaging Het
Atp10a T A 7: 58,463,373 (GRCm39) F969I probably benign Het
Becn1 A T 11: 101,182,277 (GRCm39) N97K probably damaging Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Crtac1 A T 19: 42,272,652 (GRCm39) C578S probably damaging Het
Dcp1b A G 6: 119,192,319 (GRCm39) K412E probably damaging Het
Dlg2 T A 7: 91,589,267 (GRCm39) I327N probably damaging Het
Ehf T A 2: 103,098,500 (GRCm39) probably null Het
Elavl4 T C 4: 110,063,809 (GRCm39) N264S probably benign Het
Enpp2 A T 15: 54,739,065 (GRCm39) I406N probably damaging Het
F10 A T 8: 13,105,383 (GRCm39) Y316F possibly damaging Het
Fam20a A G 11: 109,576,177 (GRCm39) I194T possibly damaging Het
Fcgbp T C 7: 27,789,072 (GRCm39) V546A probably benign Het
Fras1 A T 5: 96,821,557 (GRCm39) Q1438L probably null Het
Gm43638 T C 5: 87,608,451 (GRCm39) I463V probably benign Het
H2-T10 T C 17: 36,431,602 (GRCm39) D84G probably benign Het
Itpr1 T C 6: 108,376,322 (GRCm39) F1262L probably damaging Het
Lama1 A G 17: 68,052,046 (GRCm39) N335D probably benign Het
Lasp1 T C 11: 97,727,016 (GRCm39) V246A probably damaging Het
Lrrk2 A T 15: 91,567,345 (GRCm39) I135L probably benign Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Mctp2 T C 7: 71,878,274 (GRCm39) K268R probably benign Het
Nbea A T 3: 55,938,957 (GRCm39) H710Q probably benign Het
Notch3 G A 17: 32,385,731 (GRCm39) R13C unknown Het
Ogfod1 A T 8: 94,782,299 (GRCm39) probably benign Het
Or1j11 A G 2: 36,311,716 (GRCm39) Y102C probably benign Het
Or5b111 A G 19: 13,291,490 (GRCm39) L53P probably damaging Het
Pgm3 A G 9: 86,443,932 (GRCm39) V324A probably damaging Het
Ppfia2 A T 10: 106,694,068 (GRCm39) I681F probably damaging Het
Prss23 T C 7: 89,159,095 (GRCm39) K325E possibly damaging Het
Psmd7 T A 8: 108,313,249 (GRCm39) probably benign Het
Rfx2 T A 17: 57,115,317 (GRCm39) M1L possibly damaging Het
Rpa1 T C 11: 75,203,141 (GRCm39) Y418C probably damaging Het
Rps6kc1 C T 1: 190,505,875 (GRCm39) R1029H probably damaging Het
Septin10 A G 10: 59,002,422 (GRCm39) V391A probably benign Het
Skint6 A G 4: 113,093,637 (GRCm39) F169L probably benign Het
Slc44a4 C T 17: 35,140,674 (GRCm39) T289I probably benign Het
Spata31e5 T C 1: 28,816,137 (GRCm39) I632V probably benign Het
Srl T C 16: 4,315,546 (GRCm39) D32G probably damaging Het
Stxbp3-ps T A 19: 9,535,256 (GRCm39) noncoding transcript Het
Sult1b1 T C 5: 87,662,815 (GRCm39) D295G probably benign Het
Tmprss7 A G 16: 45,504,937 (GRCm39) V151A probably damaging Het
Trmo A G 4: 46,387,589 (GRCm39) L84P probably damaging Het
Vmn2r98 T A 17: 19,285,447 (GRCm39) I89N probably damaging Het
Zcwpw1 G A 5: 137,795,061 (GRCm39) A86T probably benign Het
Zkscan16 A G 4: 58,956,690 (GRCm39) H324R possibly damaging Het
Other mutations in Or8d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01673:Or8d2 APN 9 38,760,316 (GRCm39) missense probably benign 0.00
IGL01769:Or8d2 APN 9 38,759,629 (GRCm39) missense probably benign 0.01
IGL02015:Or8d2 APN 9 38,760,090 (GRCm39) missense probably damaging 0.99
IGL02525:Or8d2 APN 9 38,759,536 (GRCm39) missense possibly damaging 0.82
IGL02728:Or8d2 APN 9 38,760,222 (GRCm39) missense probably damaging 1.00
IGL02944:Or8d2 APN 9 38,760,048 (GRCm39) missense possibly damaging 0.88
IGL03127:Or8d2 APN 9 38,759,505 (GRCm39) missense probably damaging 1.00
R0613:Or8d2 UTSW 9 38,759,909 (GRCm39) nonsense probably null
R0811:Or8d2 UTSW 9 38,759,805 (GRCm39) missense probably benign
R0812:Or8d2 UTSW 9 38,759,805 (GRCm39) missense probably benign
R1558:Or8d2 UTSW 9 38,760,200 (GRCm39) missense probably benign 0.00
R1604:Or8d2 UTSW 9 38,760,000 (GRCm39) missense probably benign 0.04
R1681:Or8d2 UTSW 9 38,759,809 (GRCm39) missense probably damaging 1.00
R1730:Or8d2 UTSW 9 38,760,268 (GRCm39) missense probably damaging 1.00
R1783:Or8d2 UTSW 9 38,760,268 (GRCm39) missense probably damaging 1.00
R1791:Or8d2 UTSW 9 38,759,901 (GRCm39) missense possibly damaging 0.75
R2144:Or8d2 UTSW 9 38,759,635 (GRCm39) missense probably damaging 1.00
R5741:Or8d2 UTSW 9 38,759,899 (GRCm39) nonsense probably null
R6521:Or8d2 UTSW 9 38,759,893 (GRCm39) missense probably benign
R6808:Or8d2 UTSW 9 38,760,085 (GRCm39) missense probably damaging 1.00
R7608:Or8d2 UTSW 9 38,759,806 (GRCm39) missense possibly damaging 0.63
R7741:Or8d2 UTSW 9 38,759,614 (GRCm39) missense probably damaging 1.00
R8153:Or8d2 UTSW 9 38,759,631 (GRCm39) missense possibly damaging 0.93
R8157:Or8d2 UTSW 9 38,759,762 (GRCm39) nonsense probably null
R8798:Or8d2 UTSW 9 38,760,213 (GRCm39) missense probably benign 0.04
RF004:Or8d2 UTSW 9 38,760,114 (GRCm39) missense probably benign 0.04
Posted On 2013-10-07