Incidental Mutation 'R0183:Or8k1'
ID 23854
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 038448-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R0183 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 86046319-86048055 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86047173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 294 (S294C)
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: S294C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097486
Gene: ENSMUSG00000075197
AA Change: S294C

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: S294C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 84% (42/50)
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
Aasdh C T 5: 77,034,082 (GRCm39) D490N probably benign Het
Aatf A T 11: 84,401,251 (GRCm39) probably null Het
Amer3 T A 1: 34,626,838 (GRCm39) I359K probably damaging Het
Appl1 A T 14: 26,684,811 (GRCm39) D79E probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Baz1a T A 12: 54,958,172 (GRCm39) E1026D probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Card14 C T 11: 119,217,524 (GRCm39) R386C probably damaging Het
Cenpb T C 2: 131,020,373 (GRCm39) probably benign Het
Clcn4 G A 7: 7,298,090 (GRCm39) Q40* probably null Het
Clec16a T C 16: 10,377,886 (GRCm39) Y28H probably damaging Het
Cul4a T C 8: 13,183,790 (GRCm39) S393P probably damaging Het
Dcbld2 A G 16: 58,265,722 (GRCm39) D194G possibly damaging Het
Dnah6 C T 6: 73,059,906 (GRCm39) V2841I probably damaging Het
Eaf1 T A 14: 31,217,272 (GRCm39) L16Q probably damaging Het
Eef1e1 C T 13: 38,840,162 (GRCm39) A48T probably damaging Het
Exoc3l C A 8: 106,021,932 (GRCm39) R57L probably damaging Het
Faf1 A G 4: 109,792,807 (GRCm39) N593S probably benign Het
Fosb A G 7: 19,041,310 (GRCm39) I61T probably damaging Het
Fstl5 A C 3: 76,229,579 (GRCm39) I127L possibly damaging Het
Gas2l2 T A 11: 83,319,882 (GRCm39) M125L probably benign Het
Gcnt1 C T 19: 17,306,481 (GRCm39) D415N probably benign Het
Gtpbp4 A G 13: 9,024,997 (GRCm39) M531T probably benign Het
Gucy1b2 T A 14: 62,656,589 (GRCm39) K256M probably damaging Het
Igf2bp2 A T 16: 21,897,480 (GRCm39) Y244* probably null Het
Jkamp T C 12: 72,140,809 (GRCm39) I118T possibly damaging Het
Kalrn A T 16: 33,991,749 (GRCm39) probably null Het
Kcnma1 A T 14: 23,558,120 (GRCm39) D317E probably damaging Het
Lipo2 A T 19: 33,726,951 (GRCm39) probably null Het
Lrig3 T A 10: 125,846,061 (GRCm39) I830K probably damaging Het
Map3k4 A G 17: 12,454,015 (GRCm39) I1429T probably damaging Het
Mkks G A 2: 136,722,606 (GRCm39) L184F probably benign Het
Mmp19 C T 10: 128,634,872 (GRCm39) T424I possibly damaging Het
Mrps23 A G 11: 88,100,980 (GRCm39) E57G probably damaging Het
Myh7 T C 14: 55,216,333 (GRCm39) T1282A probably benign Het
Or2y10 A G 11: 49,455,675 (GRCm39) D309G probably benign Het
Phf19 T C 2: 34,801,214 (GRCm39) N75S probably damaging Het
Pink1 T G 4: 138,041,490 (GRCm39) H477P probably damaging Het
Ppp6r2 G A 15: 89,169,990 (GRCm39) C835Y probably damaging Het
Prkcq T C 2: 11,257,973 (GRCm39) I295T probably damaging Het
Ptpn13 T C 5: 103,664,274 (GRCm39) S421P probably benign Het
Ptpn6 A G 6: 124,705,914 (GRCm39) S77P probably damaging Het
Ptpre G T 7: 135,271,574 (GRCm39) M389I probably benign Het
Ranbp9 T C 13: 43,578,599 (GRCm39) D158G probably damaging Het
Sec14l3 C T 11: 4,025,547 (GRCm39) S357L probably benign Het
Slc1a6 A G 10: 78,627,067 (GRCm39) T135A probably damaging Het
Spef2 A T 15: 9,716,445 (GRCm39) D323E possibly damaging Het
Taf2 T A 15: 54,919,186 (GRCm39) K396N possibly damaging Het
Tcf12 A T 9: 71,824,309 (GRCm39) V94E probably damaging Het
Trim24 T A 6: 37,920,415 (GRCm39) I404N possibly 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
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
Predicted Primers PCR Primer
(F):5'- AGACTCAATCTTGCTGTGCATTTCTGC -3'
(R):5'- TACACAGGGTGTGCTGTGCAACTG -3'

Sequencing Primer
(F):5'- GTGCATTTCTGCTATTTGATAATCTC -3'
(R):5'- GTGGCAATTCTCAGGATGAACTC -3'
Posted On 2013-04-16