Incidental Mutation 'R8286:Or8k23'
ID 638445
Institutional Source Beutler Lab
Gene Symbol Or8k23
Ensembl Gene ENSMUSG00000075188
Gene Name olfactory receptor family 8 subfamily K member 23
Synonyms MOR186-2, Olfr1056, GA_x6K02T2Q125-47827833-47826892
MMRRC Submission 067708-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R8286 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 86185703-86186781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86186691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 12 (F12L)
Ref Sequence ENSEMBL: ENSMUSP00000097478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099893]
AlphaFold A2AVY0
Predicted Effect probably damaging
Transcript: ENSMUST00000099893
AA Change: F12L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097478
Gene: ENSMUSG00000075188
AA Change: F12L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.6e-47 PFAM
Pfam:7tm_1 41 290 7.8e-20 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (42/42)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A T 5: 8,914,119 (GRCm39) Y1163F probably damaging Het
Abcd4 A G 12: 84,649,920 (GRCm39) V589A probably benign Het
Adam26b T A 8: 43,972,998 (GRCm39) N668I probably benign Het
Atp2b2 T C 6: 113,819,275 (GRCm39) N6S possibly damaging Het
Cacna2d2 A G 9: 107,392,063 (GRCm39) Y468C probably damaging Het
Cngb1 A T 8: 96,002,252 (GRCm39) V52D Het
Cped1 A T 6: 22,254,601 (GRCm39) Y998F probably benign Het
Csmd1 A G 8: 16,039,188 (GRCm39) V2390A probably benign Het
Ctsj A T 13: 61,148,330 (GRCm39) C321* probably null Het
Dip2a A C 10: 76,122,297 (GRCm39) I139S probably benign Het
Dnaaf9 T C 2: 130,559,248 (GRCm39) I937V probably damaging Het
Eif1 A G 11: 100,210,795 (GRCm39) probably benign Het
Exoc1 T C 5: 76,711,087 (GRCm39) I662T probably benign Het
Flt4 A G 11: 49,528,089 (GRCm39) R971G probably benign Het
Hecw2 T C 1: 53,879,928 (GRCm39) T1294A probably damaging Het
Herc2 T G 7: 55,879,410 (GRCm39) V4676G possibly damaging Het
Hif1a A G 12: 73,992,022 (GRCm39) probably benign Het
Icam5 C A 9: 20,946,822 (GRCm39) A450E possibly damaging Het
Map3k21 T A 8: 126,637,498 (GRCm39) M28K probably benign Het
Mars1 C A 10: 127,141,348 (GRCm39) R347L probably benign Het
Mctp1 A T 13: 76,905,174 (GRCm39) I426F probably benign Het
Mdn1 T C 4: 32,731,960 (GRCm39) S3007P possibly damaging Het
Mical3 T C 6: 120,998,149 (GRCm39) R65G possibly damaging Het
Ncald G T 15: 37,397,505 (GRCm39) Y58* probably null Het
Neil2 A T 14: 63,426,154 (GRCm39) I72K probably benign Het
Or8b35 C A 9: 37,904,401 (GRCm39) Y204* probably null Het
Pan2 A G 10: 128,154,189 (GRCm39) D1086G probably damaging Het
Plxnb1 A G 9: 108,935,870 (GRCm39) T1087A probably damaging Het
Prpf39 A G 12: 65,103,132 (GRCm39) M469V probably benign Het
Ptprk A T 10: 28,444,323 (GRCm39) S905C probably damaging Het
Rassf5 T C 1: 131,140,067 (GRCm39) D164G possibly damaging Het
Setd1a T C 7: 127,385,356 (GRCm39) W688R possibly damaging Het
Sfswap C T 5: 129,616,783 (GRCm39) T409I probably damaging Het
Slc50a1 G A 3: 89,177,710 (GRCm39) probably null Het
Slfn9 G C 11: 82,872,095 (GRCm39) N880K probably damaging Het
Sprr1b T C 3: 92,344,720 (GRCm39) K52R probably benign Het
Tfb2m T C 1: 179,356,770 (GRCm39) D388G probably damaging Het
Tmem234 T C 4: 129,500,881 (GRCm39) probably benign Het
Traj43 A G 14: 54,412,201 (GRCm39) N1D Het
Trmt1l T A 1: 151,333,543 (GRCm39) I682N probably damaging Het
Trp53rka T C 2: 165,333,445 (GRCm39) D148G probably damaging Het
Vmn2r86 A G 10: 130,285,855 (GRCm39) V440A probably benign Het
Vxn C T 1: 9,683,613 (GRCm39) T67I probably benign Het
Wdfy3 C T 5: 102,085,287 (GRCm39) V736I probably benign Het
Other mutations in Or8k23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00957:Or8k23 APN 2 86,186,477 (GRCm39) missense possibly damaging 0.89
R0525:Or8k23 UTSW 2 86,186,619 (GRCm39) missense probably benign 0.00
R0544:Or8k23 UTSW 2 86,186,007 (GRCm39) missense probably damaging 1.00
R1124:Or8k23 UTSW 2 86,186,239 (GRCm39) missense probably damaging 1.00
R2011:Or8k23 UTSW 2 86,186,530 (GRCm39) missense possibly damaging 0.70
R2395:Or8k23 UTSW 2 86,186,609 (GRCm39) missense probably benign 0.01
R2508:Or8k23 UTSW 2 86,186,708 (GRCm39) missense possibly damaging 0.89
R3609:Or8k23 UTSW 2 86,185,826 (GRCm39) missense probably damaging 0.96
R3923:Or8k23 UTSW 2 86,186,205 (GRCm39) missense probably benign 0.22
R4531:Or8k23 UTSW 2 86,186,318 (GRCm39) missense probably damaging 1.00
R4836:Or8k23 UTSW 2 86,186,094 (GRCm39) missense probably benign 0.39
R5085:Or8k23 UTSW 2 86,186,318 (GRCm39) missense probably damaging 1.00
R6210:Or8k23 UTSW 2 86,186,702 (GRCm39) missense probably benign 0.00
R7265:Or8k23 UTSW 2 86,186,088 (GRCm39) missense probably benign 0.00
R8059:Or8k23 UTSW 2 86,186,306 (GRCm39) missense probably benign 0.01
R8460:Or8k23 UTSW 2 86,186,198 (GRCm39) missense probably damaging 1.00
R9643:Or8k23 UTSW 2 86,186,408 (GRCm39) missense probably benign 0.20
X0020:Or8k23 UTSW 2 86,186,118 (GRCm39) missense probably benign 0.09
Z1088:Or8k23 UTSW 2 86,186,237 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- CCCACAGCTGTTGAATACCC -3'
(R):5'- TCAGTGTTCAGTACGCAGATGAATC -3'

Sequencing Primer
(F):5'- CAGCTGTTGAATACCCAAAATCAATG -3'
(R):5'- CAGGTAATTTCCTGAACCC -3'
Posted On 2020-07-28