Incidental Mutation 'IGL03327:Or8k1'
ID 416678
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 # IGL03327
Quality Score
Status
Chromosome 2
Chromosomal Location 86046319-86048055 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 86047618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 145 (W145*)
Ref Sequence ENSEMBL: ENSMUSP00000148873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099902] [ENSMUST00000213987]
AlphaFold Q7TR79
Predicted Effect probably null
Transcript: ENSMUST00000099902
AA Change: W145*
SMART Domains Protein: ENSMUSP00000097486
Gene: ENSMUSG00000075197
AA Change: W145*

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 2.2e-50 PFAM
Pfam:7tm_1 44 293 4e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000213987
AA Change: W145*
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T C 15: 64,792,116 (GRCm39) Y280C probably damaging Het
Anapc1 T C 2: 128,465,854 (GRCm39) T1647A probably benign Het
Ano3 T C 2: 110,527,523 (GRCm39) I562V possibly damaging Het
Ash1l C T 3: 88,930,390 (GRCm39) P1956S probably benign Het
Ccdc9b T C 2: 118,592,151 (GRCm39) N79S probably damaging Het
Cd160 C T 3: 96,712,849 (GRCm39) probably null Het
Chd3 G T 11: 69,241,012 (GRCm39) A1527E probably damaging Het
Clcn1 C T 6: 42,288,153 (GRCm39) T797I probably benign Het
Cntnap3 G A 13: 65,035,582 (GRCm39) Q44* probably null Het
Cntnap4 A G 8: 113,500,208 (GRCm39) D500G probably benign Het
Col6a6 T C 9: 105,644,433 (GRCm39) D1285G possibly damaging Het
Cr2 A T 1: 194,852,067 (GRCm39) V94E probably damaging Het
Dcaf1 T C 9: 106,735,823 (GRCm39) S924P possibly damaging Het
Eif5b T C 1: 38,080,772 (GRCm39) probably benign Het
Fat1 A C 8: 45,403,505 (GRCm39) K85N probably damaging Het
Fnip2 T C 3: 79,425,388 (GRCm39) E69G probably damaging Het
Fzr1 T C 10: 81,205,018 (GRCm39) T300A probably benign Het
Galc A G 12: 98,173,735 (GRCm39) probably benign Het
Gm17079 T C 14: 51,930,420 (GRCm39) T142A possibly damaging Het
Hibch G A 1: 52,959,539 (GRCm39) probably benign Het
Hmmr A G 11: 40,606,242 (GRCm39) C243R probably damaging Het
Il25 T C 14: 55,172,817 (GRCm39) probably benign Het
Kif5b G A 18: 6,222,767 (GRCm39) R355W probably damaging Het
Kifc3 C T 8: 95,835,060 (GRCm39) D242N probably damaging Het
Lig1 T G 7: 13,037,781 (GRCm39) I677S probably damaging Het
Lrig1 G T 6: 94,583,104 (GRCm39) A1004E probably benign Het
Nras A G 3: 102,966,340 (GRCm39) T35A probably damaging Het
Nt5c1b C T 12: 10,424,861 (GRCm39) Q136* probably null Het
Or4f54 A T 2: 111,122,807 (GRCm39) N65Y probably damaging Het
Or6c217 T G 10: 129,738,451 (GRCm39) I43L possibly damaging Het
Plcb3 A G 19: 6,932,420 (GRCm39) F1080L probably benign Het
Plpp2 T C 10: 79,366,818 (GRCm39) probably null Het
Ptpre G A 7: 135,274,551 (GRCm39) probably null Het
Scn3a G A 2: 65,367,016 (GRCm39) A2V probably damaging Het
Sh3bp4 C A 1: 89,071,885 (GRCm39) Y244* probably null Het
Trip11 A T 12: 101,849,677 (GRCm39) N1462K possibly damaging Het
Ttc21b T C 2: 66,068,192 (GRCm39) D278G possibly damaging Het
Virma A G 4: 11,518,984 (GRCm39) T694A probably benign Het
Wdr35 T C 12: 9,028,694 (GRCm39) probably benign Het
Xdh T C 17: 74,223,787 (GRCm39) E535G probably benign Het
Other mutations in Or8k1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Or8k1 APN 2 86,047,916 (GRCm39) missense probably damaging 1.00
IGL01613:Or8k1 APN 2 86,047,505 (GRCm39) missense probably damaging 1.00
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 2016-08-02