Incidental Mutation 'R8395:Or8k18'
ID 647553
Institutional Source Beutler Lab
Gene Symbol Or8k18
Ensembl Gene ENSMUSG00000075194
Gene Name olfactory receptor family 8 subfamily K member 18
Synonyms GA_x6K02T2Q125-47735396-47734470, MOR187-1, Olfr1049
MMRRC Submission 067759-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R8395 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 86085109-86086035 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86085878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 53 (S53F)
Ref Sequence ENSEMBL: ENSMUSP00000149360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099899] [ENSMUST00000216185]
AlphaFold A2ARZ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000099899
AA Change: S53F

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097483
Gene: ENSMUSG00000075194
AA Change: S53F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 4.9e-54 PFAM
Pfam:7tm_1 41 290 5.6e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216185
AA Change: S53F

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,218,280 (GRCm39) E352G possibly damaging Het
Ascc3 T C 10: 50,525,400 (GRCm39) F532L possibly damaging Het
Bckdk G A 7: 127,507,139 (GRCm39) V328I probably benign Het
Cenpu T C 8: 47,007,084 (GRCm39) Y26H probably benign Het
Clk3 A T 9: 57,672,445 (GRCm39) V119E probably benign Het
Cnn2 A G 10: 79,828,293 (GRCm39) N90S probably benign Het
Dlk2 T C 17: 46,611,969 (GRCm39) I78T probably damaging Het
Ercc8 G T 13: 108,323,788 (GRCm39) E367* probably null Het
Gbp9 A T 5: 105,228,069 (GRCm39) I571K probably damaging Het
Gm3404 T C 5: 146,462,724 (GRCm39) I29T possibly damaging Het
Gpat4 GTGTT GT 8: 23,669,498 (GRCm39) probably benign Het
Heatr5a A G 12: 51,962,961 (GRCm39) S74P Het
Htr6 T G 4: 138,789,078 (GRCm39) M326L possibly damaging Het
Ighv5-8 C T 12: 113,618,813 (GRCm39) A76V unknown Het
Ippk A G 13: 49,615,096 (GRCm39) E493G probably damaging Het
Kiz A G 2: 146,794,949 (GRCm39) N603S possibly damaging Het
Limch1 A T 5: 67,126,394 (GRCm39) K7N probably damaging Het
Lrp1b C T 2: 40,547,411 (GRCm39) C4257Y Het
Map4k5 C G 12: 69,877,203 (GRCm39) R381T probably null Het
Map9 A G 3: 82,289,276 (GRCm39) I455V probably benign Het
Mpped1 T C 15: 83,684,257 (GRCm39) V93A probably damaging Het
Myh10 T C 11: 68,682,842 (GRCm39) L1129P probably damaging Het
Neb T A 2: 52,065,645 (GRCm39) M6196L probably benign Het
Neb C A 2: 52,147,806 (GRCm39) V2738F probably damaging Het
Or10ad1 A G 15: 98,105,500 (GRCm39) V255A probably benign Het
Sgf29 T A 7: 126,271,837 (GRCm39) C287* probably null Het
Siglece A G 7: 43,305,523 (GRCm39) V398A probably benign Het
Slc43a1 T C 2: 84,671,266 (GRCm39) L67P probably damaging Het
Slco2a1 A G 9: 102,954,239 (GRCm39) H470R probably benign Het
Spata31d1e A G 13: 59,889,540 (GRCm39) V760A probably benign Het
Syngr1 T C 15: 79,997,445 (GRCm39) S188P probably benign Het
Trpm4 T C 7: 44,958,634 (GRCm39) D885G probably benign Het
Ubd A T 17: 37,506,249 (GRCm39) Q45L probably damaging Het
Unc45a A T 7: 79,976,080 (GRCm39) C800S probably benign Het
Vmn2r112 A G 17: 22,837,587 (GRCm39) T683A possibly damaging Het
Vmn2r25 T A 6: 123,799,982 (GRCm39) T787S possibly damaging Het
Vmn2r85 G A 10: 130,261,797 (GRCm39) P180L probably damaging Het
Vtcn1 T C 3: 100,791,070 (GRCm39) F36S probably benign Het
Wdr86 A G 5: 24,935,187 (GRCm39) L52P probably damaging Het
Xpo4 A T 14: 57,885,924 (GRCm39) S43T probably benign Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Other mutations in Or8k18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01659:Or8k18 APN 2 86,085,529 (GRCm39) nonsense probably null
IGL03371:Or8k18 APN 2 86,085,935 (GRCm39) missense possibly damaging 0.88
IGL03378:Or8k18 APN 2 86,085,363 (GRCm39) missense possibly damaging 0.91
R1529:Or8k18 UTSW 2 86,085,585 (GRCm39) missense probably damaging 1.00
R1761:Or8k18 UTSW 2 86,085,383 (GRCm39) missense probably damaging 1.00
R1951:Or8k18 UTSW 2 86,085,440 (GRCm39) missense probably benign 0.01
R3499:Or8k18 UTSW 2 86,085,185 (GRCm39) missense possibly damaging 0.91
R3974:Or8k18 UTSW 2 86,085,935 (GRCm39) missense possibly damaging 0.88
R4094:Or8k18 UTSW 2 86,085,674 (GRCm39) missense probably damaging 1.00
R4191:Or8k18 UTSW 2 86,085,666 (GRCm39) missense probably benign 0.03
R4659:Or8k18 UTSW 2 86,085,357 (GRCm39) nonsense probably null
R6431:Or8k18 UTSW 2 86,085,702 (GRCm39) missense probably benign 0.01
R7006:Or8k18 UTSW 2 86,085,572 (GRCm39) missense probably benign 0.01
R7090:Or8k18 UTSW 2 86,085,420 (GRCm39) missense probably damaging 1.00
R7916:Or8k18 UTSW 2 86,085,202 (GRCm39) nonsense probably null
R9087:Or8k18 UTSW 2 86,085,380 (GRCm39) missense probably benign
R9128:Or8k18 UTSW 2 86,086,022 (GRCm39) missense probably damaging 1.00
R9223:Or8k18 UTSW 2 86,085,544 (GRCm39) missense possibly damaging 0.50
R9786:Or8k18 UTSW 2 86,085,428 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- CATTATAGCACTATAGAGCAGAGGG -3'
(R):5'- GGAACATCCAATGGGGCAAC -3'

Sequencing Primer
(F):5'- TTGCAGATAGCCACATAGCGGTC -3'
(R):5'- ACCAAATATAACAATGCCAACTGAG -3'
Posted On 2020-09-02