Incidental Mutation 'R8420:Or8k1'
ID 653127
Institutional Source Beutler Lab
Gene Symbol Or8k1
Ensembl Gene ENSMUSG00000075197
Gene Name olfactory receptor family 8 subfamily K member 1
Synonyms MOR194-1, GA_x6K02T2Q125-47692494-47691544, Olfr1046
MMRRC Submission 067773-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R8420 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 86046319-86048055 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86047457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 199 (E199V)
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: E199V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097486
Gene: ENSMUSG00000075197
AA Change: E199V

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: E199V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,937,746 (GRCm39) S11P unknown Het
Adrb2 T C 18: 62,312,004 (GRCm39) T274A probably damaging Het
Aph1b A G 9: 66,701,503 (GRCm39) S45P probably damaging Het
Atp9b A T 18: 80,887,806 (GRCm39) D321E Het
C1qbp A G 11: 70,869,543 (GRCm39) V180A possibly damaging Het
C4b G T 17: 34,953,513 (GRCm39) A990D probably damaging Het
Ccdc80 T A 16: 44,915,612 (GRCm39) S123T possibly damaging Het
Cdh18 A C 15: 23,474,138 (GRCm39) E669D possibly damaging Het
Ceacam3 T A 7: 16,895,608 (GRCm39) V526D Het
Cenpf C T 1: 189,404,782 (GRCm39) C349Y probably damaging Het
Dmrt2 T C 19: 25,655,379 (GRCm39) V326A probably damaging Het
Dock9 T C 14: 121,783,454 (GRCm39) Q2023R probably damaging Het
Exd2 A G 12: 80,522,771 (GRCm39) R77G probably benign Het
Exph5 A T 9: 53,287,148 (GRCm39) K1410* probably null Het
Eya2 A G 2: 165,608,988 (GRCm39) T443A probably damaging Het
Fam135a G A 1: 24,067,569 (GRCm39) T1100M probably benign Het
Foxp2 G T 6: 15,403,866 (GRCm39) R381L unknown Het
Grm7 T G 6: 111,057,315 (GRCm39) V305G probably benign Het
Gzma G A 13: 113,237,464 (GRCm39) R8W probably benign Het
H6pd T C 4: 150,066,133 (GRCm39) E759G probably benign Het
Ift27 A G 15: 78,048,391 (GRCm39) V154A probably benign Het
Kif1a A T 1: 92,950,141 (GRCm39) S1429T probably benign Het
Lrrn1 T A 6: 107,546,294 (GRCm39) D697E probably benign Het
Mcrs1 A T 15: 99,141,575 (GRCm39) I387N probably damaging Het
Muc16 T C 9: 18,448,807 (GRCm39) T7675A probably damaging Het
Naf1 GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC 8: 67,313,200 (GRCm39) probably benign Het
Nid1 C A 13: 13,612,416 (GRCm39) L44I possibly damaging Het
Or2f2 A T 6: 42,767,644 (GRCm39) T224S possibly damaging Het
Or4m1 T C 14: 50,558,233 (GRCm39) T20A probably benign Het
Or5h27 A G 16: 59,006,117 (GRCm39) I243T unknown Het
Pde11a C T 2: 75,889,354 (GRCm39) D707N probably damaging Het
Pigf A T 17: 87,327,910 (GRCm39) L119* probably null Het
Pkd1l1 A T 11: 8,820,277 (GRCm39) C1679* probably null Het
Prnp A G 2: 131,778,669 (GRCm39) N107S probably benign Het
Ptgfr C T 3: 151,541,053 (GRCm39) V152M possibly damaging Het
Rap2b A G 3: 61,271,805 (GRCm39) probably benign Het
Rtn4 A G 11: 29,657,300 (GRCm39) T485A probably damaging Het
Sec23b A G 2: 144,401,234 (GRCm39) T32A probably benign Het
Skint5 A T 4: 113,437,679 (GRCm39) probably null Het
Slc13a5 A G 11: 72,148,210 (GRCm39) L275P probably damaging Het
Slc20a1 C T 2: 129,041,784 (GRCm39) A49V probably damaging Het
Slc35g2 A G 9: 100,435,224 (GRCm39) I149T probably benign Het
Syk T A 13: 52,778,763 (GRCm39) I283K probably benign Het
Taf7l2 T C 10: 115,948,440 (GRCm39) Y362C probably benign Het
Tnfsf13b G A 8: 10,056,795 (GRCm39) probably benign Het
Ubr1 A G 2: 120,701,476 (GRCm39) V1592A probably benign Het
Vopp1 T C 6: 57,739,379 (GRCm39) *123W probably null Het
Xpo4 T A 14: 57,841,913 (GRCm39) Q467H probably damaging Het
Zdhhc22 A C 12: 87,035,143 (GRCm39) V103G possibly damaging Het
Zfp868 A G 8: 70,064,160 (GRCm39) S392P probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- GCAGGTAAATAAACAGCAGTGTTCC -3'
(R):5'- AGCCATCTGCAAACCTCTTC -3'

Sequencing Primer
(F):5'- ATAAACAGCAGTGTTCCATAGAAC -3'
(R):5'- TCTCTATGTGATCATCATGGCAG -3'
Posted On 2020-10-20