Incidental Mutation 'R4191:Or8k18'
ID 318294
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 041022-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R4191 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86085109-86086035 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 86085666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 124 (V124L)
Ref Sequence ENSEMBL: ENSMUSP00000149360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099899] [ENSMUST00000216185]
AlphaFold A2ARZ0
Predicted Effect probably benign
Transcript: ENSMUST00000099899
AA Change: V124L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000097483
Gene: ENSMUSG00000075194
AA Change: V124L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 4.9e-54 PFAM
Pfam:7tm_1 41 290 5.6e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216185
AA Change: V124L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
Meta Mutation Damage Score 0.1175 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 95% (57/60)
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
Abcc1 A G 16: 14,207,728 (GRCm39) T22A probably damaging Het
Ache A T 5: 137,289,334 (GRCm39) I347F probably damaging Het
Adgrl1 C G 8: 84,665,569 (GRCm39) R1464G probably benign Het
Cdh11 T C 8: 103,377,380 (GRCm39) D422G probably damaging Het
Cdx1 C T 18: 61,153,510 (GRCm39) S176N possibly damaging Het
Cimip3 C T 17: 47,747,562 (GRCm39) R61H probably damaging Het
Csmd3 T C 15: 47,710,667 (GRCm39) D1536G probably damaging Het
Cyct G T 2: 76,184,535 (GRCm39) P72Q probably damaging Het
Ddx19b A T 8: 111,737,980 (GRCm39) L256Q probably damaging Het
Disp1 G T 1: 182,870,737 (GRCm39) A561E probably damaging Het
Donson C A 16: 91,485,480 (GRCm39) A41S possibly damaging Het
Gldc T C 19: 30,123,058 (GRCm39) E279G probably damaging Het
Gpr160 A T 3: 30,950,863 (GRCm39) I312F possibly damaging Het
H2-Eb2 G A 17: 34,563,529 (GRCm39) probably benign Het
Igdcc4 A G 9: 65,031,433 (GRCm39) Q457R probably benign Het
Irf2bp2 T C 8: 127,320,084 (GRCm39) D31G probably damaging Het
Klrb1 T A 6: 128,690,597 (GRCm39) K42* probably null Het
Lrrfip1 A T 1: 91,038,121 (GRCm39) E446D probably benign Het
Macf1 A G 4: 123,366,835 (GRCm39) F1077S possibly damaging Het
Maml3 A G 3: 51,597,390 (GRCm39) V1098A probably benign Het
Mrgpra4 T C 7: 47,630,867 (GRCm39) S245G probably benign Het
Mybbp1a A G 11: 72,342,113 (GRCm39) E1283G probably damaging Het
Myh2 A G 11: 67,068,226 (GRCm39) S285G possibly damaging Het
Myh7b A G 2: 155,475,319 (GRCm39) D1876G probably benign Het
Nr4a2 T C 2: 57,002,391 (GRCm39) S21G probably damaging Het
Or10d1c T A 9: 38,894,313 (GRCm39) Q9L probably benign Het
Or2y14 T A 11: 49,404,639 (GRCm39) M58K probably damaging Het
Or7g25 A G 9: 19,160,383 (GRCm39) V104A probably benign Het
Or8c11 T A 9: 38,289,648 (GRCm39) M157K probably damaging Het
Pcdhgb8 G C 18: 37,896,594 (GRCm39) D555H probably damaging Het
Pcsk6 T C 7: 65,675,056 (GRCm39) S476P probably damaging Het
Pex10 T C 4: 155,152,362 (GRCm39) probably null Het
Pgf T C 12: 85,218,561 (GRCm39) D63G probably benign Het
Piwil4 A G 9: 14,626,296 (GRCm39) S465P probably damaging Het
Plcb1 A C 2: 135,187,010 (GRCm39) H759P probably damaging Het
Pmfbp1 A T 8: 110,254,260 (GRCm39) M432L probably benign Het
Prodh C T 16: 17,891,504 (GRCm39) V480I probably benign Het
Rmnd1 A T 10: 4,360,809 (GRCm39) probably benign Het
Ro60 T C 1: 143,646,524 (GRCm39) I74V probably benign Het
Senp2 G T 16: 21,865,417 (GRCm39) W580L probably damaging Het
Svep1 C T 4: 58,046,601 (GRCm39) C3510Y possibly damaging Het
Tanc1 A G 2: 59,669,357 (GRCm39) I1274V probably damaging Het
Tep1 T C 14: 51,074,263 (GRCm39) E1874G probably damaging Het
Tgfbr2 T C 9: 115,939,009 (GRCm39) T298A probably damaging Het
Tlk1 G A 2: 70,555,891 (GRCm39) R423C probably damaging Het
Trp53rkb T C 2: 166,637,395 (GRCm39) I117T probably damaging Het
Ttll9 A G 2: 152,844,927 (GRCm39) T432A probably benign Het
Vit A G 17: 78,894,255 (GRCm39) H219R probably benign Het
Zfp112 A G 7: 23,825,568 (GRCm39) D512G probably benign Het
Zfyve19 A G 2: 119,041,312 (GRCm39) K76R 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
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
R8395:Or8k18 UTSW 2 86,085,878 (GRCm39) missense possibly damaging 0.94
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'- TGTCTCTTCTACATGTGAACAGATC -3'
(R):5'- TGGACTCTCGCCTACAAACC -3'

Sequencing Primer
(F):5'- CTTCTACATGTGAACAGATCAAAGG -3'
(R):5'- ATCAGACACCTTGCTTTCATTG -3'
Posted On 2015-06-10