Incidental Mutation 'R3974:Or8k18'
ID 312508
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R3974 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 86085109-86086035 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86085935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 34 (I34N)
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: I34N

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097483
Gene: ENSMUSG00000075194
AA Change: I34N

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: I34N

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T C 4: 148,029,488 (GRCm39) I486T probably damaging Het
Abca8a A T 11: 109,974,328 (GRCm39) M202K probably damaging Het
Abhd4 T A 14: 54,500,417 (GRCm39) I117N probably damaging Het
Adam23 T A 1: 63,586,888 (GRCm39) Y416* probably null Het
Cenpe A G 3: 134,940,986 (GRCm39) probably null Het
Cenph A G 13: 100,900,075 (GRCm39) V151A probably damaging Het
Cfap54 A G 10: 92,675,333 (GRCm39) S2863P possibly damaging Het
Clca3a1 A T 3: 144,738,400 (GRCm39) V36D probably damaging Het
Cnbd1 G A 4: 18,887,693 (GRCm39) R274C probably benign Het
Crot T C 5: 9,027,541 (GRCm39) T264A probably benign Het
Dll4 A G 2: 119,164,573 (GRCm39) D664G probably damaging Het
Ehbp1 C T 11: 22,087,867 (GRCm39) A406T probably benign Het
Far2 T A 6: 148,052,252 (GRCm39) I177N probably damaging Het
Flt4 T G 11: 49,527,567 (GRCm39) V910G probably damaging Het
Fmod A G 1: 133,968,496 (GRCm39) R179G probably benign Het
Gdf2 T A 14: 33,666,791 (GRCm39) V171D probably damaging Het
Gpx6 C A 13: 21,501,828 (GRCm39) S150Y probably damaging Het
Grik2 A T 10: 49,298,750 (GRCm39) Y37N probably damaging Het
Grn T C 11: 102,327,165 (GRCm39) V559A probably damaging Het
Lrrc37 A T 11: 103,509,927 (GRCm39) probably benign Het
Muc2 T A 7: 141,300,541 (GRCm39) probably benign Het
Myo5b T C 18: 74,767,552 (GRCm39) Y287H probably damaging Het
Nbeal2 T C 9: 110,462,914 (GRCm39) T1350A probably damaging Het
Nfkbiz T C 16: 55,638,799 (GRCm39) I220M probably benign Het
Nt5dc2 T C 14: 30,860,832 (GRCm39) S439P probably damaging Het
Omg T A 11: 79,393,224 (GRCm39) E211D probably benign Het
Or52ab7 T G 7: 102,978,285 (GRCm39) D197E probably damaging Het
Pcdhb4 A G 18: 37,441,901 (GRCm39) T404A possibly damaging Het
Plcl1 T A 1: 55,737,374 (GRCm39) M905K probably benign Het
Plod2 G T 9: 92,480,672 (GRCm39) G422* probably null Het
Ppp1r12a T C 10: 108,089,341 (GRCm39) V660A probably benign Het
Prdm6 T C 18: 53,673,278 (GRCm39) I186T possibly damaging Het
Ptprq T G 10: 107,547,923 (GRCm39) K158N possibly damaging Het
Rimbp2 A G 5: 128,874,862 (GRCm39) V243A probably damaging Het
Rp1l1 T A 14: 64,267,758 (GRCm39) Y1115N probably damaging Het
Rtn4 C T 11: 29,657,505 (GRCm39) T553I probably damaging Het
Scrn3 T C 2: 73,166,121 (GRCm39) S385P possibly damaging Het
Serpina1f C A 12: 103,659,830 (GRCm39) G151* probably null Het
Sis T C 3: 72,850,968 (GRCm39) T577A probably damaging Het
Slco1a1 A T 6: 141,854,819 (GRCm39) S611T probably benign Het
Smad4 G T 18: 73,810,807 (GRCm39) T59K possibly damaging Het
Syne1 T C 10: 4,993,630 (GRCm39) D8370G probably benign Het
Tigd4 G A 3: 84,502,585 (GRCm39) A501T possibly damaging Het
Tjp1 A T 7: 64,947,387 (GRCm39) C1724* probably null Het
Tmem107 G T 11: 68,962,301 (GRCm39) probably null Het
Tsc22d1 T C 14: 76,656,049 (GRCm39) S761P probably damaging Het
Tyw5 A T 1: 57,430,687 (GRCm39) D165E probably damaging Het
U2af2 T A 7: 5,072,438 (GRCm39) probably null Het
Ube3b T A 5: 114,550,491 (GRCm39) D839E probably benign Het
Ush2a A G 1: 188,113,698 (GRCm39) D639G probably benign Het
Veph1 A T 3: 66,065,648 (GRCm39) M473K probably benign Het
Vmn2r72 A T 7: 85,399,017 (GRCm39) N445K probably damaging Het
Vps37d T C 5: 135,105,393 (GRCm39) M77V probably null 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
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
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'- CAGAATGAAGCATGCCATTTGTG -3'
(R):5'- CTGTGACTAGTACGAAGTTTATATGGC -3'

Sequencing Primer
(F):5'- TGGCACAAGCATAATAGGTGATGTTG -3'
(R):5'- GTACGAAGTTTATATGGCAATGAAAG -3'
Posted On 2015-04-30