Incidental Mutation 'IGL01613:Or8k1'
ID 92254
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8k1
Ensembl Gene ENSMUSG00000075197
Gene Name olfactory receptor family 8 subfamily K member 1
Synonyms MOR194-1, GA_x6K02T2Q125-47692494-47691544, Olfr1046
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # IGL01613
Quality Score
Status
Chromosome 2
Chromosomal Location 86046319-86048055 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 86047505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 183 (D183A)
Ref Sequence ENSEMBL: ENSMUSP00000148873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099902] [ENSMUST00000213987]
AlphaFold Q7TR79
Predicted Effect probably damaging
Transcript: ENSMUST00000099902
AA Change: D183A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097486
Gene: ENSMUSG00000075197
AA Change: D183A

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 2.2e-50 PFAM
Pfam:7tm_1 44 293 4e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213987
AA Change: D183A

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T G 5: 125,589,716 (GRCm39) M446R possibly damaging Het
Abca16 A G 7: 120,140,500 (GRCm39) N1599S probably benign Het
Ankib1 G A 5: 3,763,146 (GRCm39) Q528* probably null Het
Ano10 A T 9: 122,088,606 (GRCm39) L347M possibly damaging Het
Bag6 T C 17: 35,361,992 (GRCm39) probably benign Het
Bpnt1 T C 1: 185,086,191 (GRCm39) V182A possibly damaging Het
Capn13 G T 17: 73,638,053 (GRCm39) T450N probably benign Het
Cbr3 A T 16: 93,480,331 (GRCm39) E40V probably benign Het
Cdk10 T C 8: 123,955,126 (GRCm39) I159T probably damaging Het
Cela3b T C 4: 137,152,382 (GRCm39) D65G possibly damaging Het
Csf2rb T G 15: 78,219,502 (GRCm39) probably benign Het
Cyp2b19 C T 7: 26,462,886 (GRCm39) T256I possibly damaging Het
Dpp9 T C 17: 56,497,713 (GRCm39) H687R probably benign Het
Elovl1 T C 4: 118,288,467 (GRCm39) V108A probably benign Het
Emb T A 13: 117,408,614 (GRCm39) N318K probably damaging Het
Ermp1 A G 19: 29,617,339 (GRCm39) L36P probably damaging Het
Esco2 T G 14: 66,064,044 (GRCm39) H380P possibly damaging Het
Gm9747 G A 1: 82,211,809 (GRCm39) probably benign Het
Golga1 A G 2: 38,910,138 (GRCm39) M603T probably benign Het
Hsph1 A G 5: 149,550,743 (GRCm39) V411A probably benign Het
Igsf21 C T 4: 139,834,675 (GRCm39) G66S possibly damaging Het
Ints11 T C 4: 155,969,655 (GRCm39) probably null Het
Jakmip1 G T 5: 37,258,112 (GRCm39) A253S probably damaging Het
Met A G 6: 17,540,576 (GRCm39) Y834C probably damaging Het
Mgl2 A G 11: 70,024,984 (GRCm39) T2A probably benign Het
Myh2 G T 11: 67,088,170 (GRCm39) V1929L probably benign Het
Myh8 T C 11: 67,192,536 (GRCm39) S1472P probably benign Het
Myo1e T C 9: 70,248,555 (GRCm39) probably benign Het
Ndufaf7 A G 17: 79,244,931 (GRCm39) I17V probably benign Het
Or4a47 T C 2: 89,666,152 (GRCm39) T46A probably damaging Het
Or5ak22 C T 2: 85,230,515 (GRCm39) D121N probably damaging Het
Or5h25 A T 16: 58,930,284 (GRCm39) S230T probably damaging Het
Or6c6c A G 10: 129,541,492 (GRCm39) I248M probably benign Het
Or7g18 T A 9: 18,786,617 (GRCm39) probably benign Het
Or8b50 A G 9: 38,517,850 (GRCm39) I30V probably null Het
Ppef2 T C 5: 92,383,679 (GRCm39) E477G probably benign Het
Scmh1 T A 4: 120,387,097 (GRCm39) probably benign Het
Scn1a C A 2: 66,116,281 (GRCm39) D1473Y probably damaging Het
Sdr42e1 C T 8: 118,389,676 (GRCm39) V322I probably benign Het
Slco1a7 G T 6: 141,658,940 (GRCm39) T552K possibly damaging Het
Spta1 G A 1: 174,035,960 (GRCm39) A1089T probably damaging Het
Sufu T C 19: 46,464,059 (GRCm39) Y424H probably damaging Het
Tgs1 T C 4: 3,585,183 (GRCm39) F108L possibly damaging Het
Ttn T C 2: 76,805,308 (GRCm39) N177S probably benign Het
Tyk2 T C 9: 21,031,872 (GRCm39) D401G probably damaging Het
Vav1 T C 17: 57,614,067 (GRCm39) F650L possibly damaging Het
Wdr12 T C 1: 60,119,718 (GRCm39) H385R probably damaging Het
Xab2 T C 8: 3,660,880 (GRCm39) M745V probably benign Het
Other mutations in Or8k1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Or8k1 APN 2 86,047,916 (GRCm39) missense probably damaging 1.00
IGL03327:Or8k1 APN 2 86,047,618 (GRCm39) nonsense probably null
R0183:Or8k1 UTSW 2 86,047,173 (GRCm39) missense probably damaging 1.00
R1738:Or8k1 UTSW 2 86,048,060 (GRCm39) splice site probably null
R2279:Or8k1 UTSW 2 86,047,148 (GRCm39) missense probably benign
R4677:Or8k1 UTSW 2 86,048,032 (GRCm39) missense probably benign 0.04
R4828:Or8k1 UTSW 2 86,047,877 (GRCm39) missense possibly damaging 0.62
R5188:Or8k1 UTSW 2 86,047,521 (GRCm39) missense probably benign 0.00
R6244:Or8k1 UTSW 2 86,047,566 (GRCm39) missense possibly damaging 0.93
R8097:Or8k1 UTSW 2 86,048,010 (GRCm39) missense probably damaging 0.99
R8420:Or8k1 UTSW 2 86,047,457 (GRCm39) missense probably damaging 1.00
R8806:Or8k1 UTSW 2 86,047,200 (GRCm39) missense probably damaging 0.97
R9269:Or8k1 UTSW 2 86,047,247 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09