Incidental Mutation 'IGL01335:Or8k1'
ID 74571
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 # IGL01335
Quality Score
Status
Chromosome 2
Chromosomal Location 86046319-86048055 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86047916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 46 (L46Q)
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: L46Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097486
Gene: ENSMUSG00000075197
AA Change: L46Q

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: L46Q

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T A 2: 152,284,307 (GRCm39) M300K possibly damaging Het
Adamts14 T A 10: 61,034,460 (GRCm39) R1143W possibly damaging Het
Ankrd28 T C 14: 31,423,981 (GRCm39) Y1083C probably damaging Het
Anxa8 T C 14: 33,811,547 (GRCm39) M34T probably damaging Het
Aox1 G T 1: 58,121,312 (GRCm39) E928* probably null Het
Atp8b5 T A 4: 43,302,628 (GRCm39) F50L possibly damaging Het
Brpf1 A G 6: 113,296,298 (GRCm39) S863G probably damaging Het
Cdc42bpb A G 12: 111,260,530 (GRCm39) probably benign Het
Cdh6 C T 15: 13,051,395 (GRCm39) A413T probably benign Het
Cfap96 A T 8: 46,426,642 (GRCm39) probably benign Het
Cfap97 A G 8: 46,623,492 (GRCm39) Q294R probably damaging Het
Cit C T 5: 116,046,889 (GRCm39) probably benign Het
Dmbt1 A G 7: 130,690,497 (GRCm39) Y736C possibly damaging Het
Eno2 C T 6: 124,743,618 (GRCm39) G107E probably damaging Het
Gja8 T C 3: 96,826,558 (GRCm39) Q368R probably benign Het
Gm3633 T A 14: 42,462,595 (GRCm39) probably benign Het
Gm4987 A T X: 45,544,755 (GRCm39) noncoding transcript Het
Gna13 G A 11: 109,256,569 (GRCm39) R164Q probably damaging Het
Grhl1 A T 12: 24,658,057 (GRCm39) E351D probably damaging Het
Idua A G 5: 108,828,737 (GRCm39) Q280R probably benign Het
Igsf5 T A 16: 96,174,353 (GRCm39) probably benign Het
Mrpl52 T C 14: 54,664,656 (GRCm39) Y39H probably damaging Het
Naa16 A T 14: 79,582,556 (GRCm39) probably benign Het
Naa35 T A 13: 59,764,610 (GRCm39) L338Q probably damaging Het
Nat8l A T 5: 34,155,791 (GRCm39) Y149F probably benign Het
Nck1 A T 9: 100,379,790 (GRCm39) W154R probably damaging Het
Ncoa1 A T 12: 4,347,520 (GRCm39) S351R probably benign Het
Or10w1 A T 19: 13,632,540 (GRCm39) H249L probably damaging Het
Or12e10 A T 2: 87,640,790 (GRCm39) T209S probably damaging Het
Or6c8b T C 10: 128,882,380 (GRCm39) K184R probably benign Het
Pacs1 A T 19: 5,192,660 (GRCm39) V624E probably damaging Het
Pde6b G A 5: 108,571,379 (GRCm39) R444H probably benign Het
Pigk A T 3: 152,448,173 (GRCm39) T226S probably benign Het
Prkdc T C 16: 15,634,760 (GRCm39) probably null Het
Ptbp1 G A 10: 79,698,708 (GRCm39) probably null Het
Pyroxd1 T C 6: 142,307,484 (GRCm39) V418A probably damaging Het
Rhot1 A T 11: 80,141,055 (GRCm39) D421V probably damaging Het
Rimkla T C 4: 119,335,156 (GRCm39) T76A possibly damaging Het
Rtn1 A G 12: 72,355,124 (GRCm39) V274A probably benign Het
Tatdn2 T A 6: 113,681,017 (GRCm39) M289K probably benign Het
Trak1 A G 9: 121,283,382 (GRCm39) T476A possibly damaging Het
Ube2i C A 17: 25,488,410 (GRCm39) Q11H probably damaging Het
Ugt2a3 A T 5: 87,484,644 (GRCm39) C127S probably damaging Het
Uimc1 T A 13: 55,182,724 (GRCm39) Q619L probably benign Het
Upk3a T A 15: 84,903,786 (GRCm39) Y162N probably damaging Het
Usp33 T C 3: 152,097,854 (GRCm39) S849P probably damaging Het
Vmn2r120 G A 17: 57,832,732 (GRCm39) T149I possibly damaging Het
Vmn2r15 G A 5: 109,434,602 (GRCm39) P701S possibly damaging Het
Vmn2r28 T C 7: 5,484,087 (GRCm39) I704M possibly damaging Het
Wdhd1 T C 14: 47,488,239 (GRCm39) E756G possibly damaging Het
Xlr3c C A X: 72,303,639 (GRCm39) V102F probably benign Het
Zfp384 T G 6: 125,002,016 (GRCm39) D220E probably benign Het
Zfp521 A T 18: 13,977,776 (GRCm39) V879E probably benign Het
Other mutations in Or8k1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01613:Or8k1 APN 2 86,047,505 (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 2013-10-07