Incidental Mutation 'R5624:Or8k39'
ID 441717
Institutional Source Beutler Lab
Gene Symbol Or8k39
Ensembl Gene ENSMUSG00000111711
Gene Name olfactory receptor family 8 subfamily K member 39
Synonyms Olfr1089, MOR193-1, GA_x6K02T2Q125-48226321-48225386
MMRRC Submission 043163-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.224) question?
Stock # R5624 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86563019-86563954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86563149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 269 (D269G)
Gene Model predicted gene model for transcript(s): [ENSMUST00000214317]
AlphaFold A0A1L1SRK6
Predicted Effect probably benign
Transcript: ENSMUST00000099876
AA Change: D269G

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097461
Gene: ENSMUSG00000075173
AA Change: D269G

DomainStartEndE-ValueType
Pfam:7tm_4 31 310 4.7e-47 PFAM
Pfam:7tm_1 41 290 2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214317
AA Change: D269G

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
Meta Mutation Damage Score 0.2081 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (47/48)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad2 T A 8: 120,341,844 (GRCm39) probably null Het
Aoah A T 13: 21,179,649 (GRCm39) N372I probably damaging Het
Ash1l T A 3: 88,892,916 (GRCm39) D1598E probably damaging Het
Bcas2 T C 3: 103,080,577 (GRCm39) C72R probably benign Het
Car9 T A 4: 43,509,146 (GRCm39) F238Y probably benign Het
Ccnd1 T C 7: 144,491,749 (GRCm39) S97G probably benign Het
Cfap52 C G 11: 67,818,184 (GRCm39) C509S possibly damaging Het
Clcn4 C A 7: 7,291,943 (GRCm39) V623L probably benign Het
Dnajc11 T C 4: 152,063,967 (GRCm39) V483A probably benign Het
E2f8 G T 7: 48,527,709 (GRCm39) D144E probably damaging Het
Epb41l1 G A 2: 156,375,691 (GRCm39) probably benign Het
Fam186a A C 15: 99,839,628 (GRCm39) H2205Q possibly damaging Het
Fhit A G 14: 10,421,534 (GRCm38) S85P probably damaging Het
Fzd8 G A 18: 9,213,268 (GRCm39) G117S unknown Het
Gsdmc4 A G 15: 63,764,503 (GRCm39) M379T possibly damaging Het
Hemk1 T C 9: 107,208,727 (GRCm39) R157G probably benign Het
Il10 A G 1: 130,951,940 (GRCm39) M158V probably benign Het
Jmjd1c G A 10: 67,069,193 (GRCm39) M1656I probably damaging Het
Kit A T 5: 75,770,054 (GRCm39) K155N probably benign Het
Lmtk3 C A 7: 45,436,286 (GRCm39) A114E probably damaging Het
Lztr1 A G 16: 17,329,993 (GRCm39) probably benign Het
Mras A G 9: 99,293,538 (GRCm39) F34S probably damaging Het
Myo1c A G 11: 75,553,461 (GRCm39) T516A probably damaging Het
Nme8 A C 13: 19,862,038 (GRCm39) V197G possibly damaging Het
Or13p5 T A 4: 118,592,568 (GRCm39) Y281N probably damaging Het
Pcdhb9 A T 18: 37,534,459 (GRCm39) Y151F probably benign Het
Pcnx2 C T 8: 126,488,262 (GRCm39) probably null Het
Plekhg4 T C 8: 106,107,382 (GRCm39) F892S probably damaging Het
Prmt3 T A 7: 49,430,082 (GRCm39) F62I probably damaging Het
Ralgapa1 T C 12: 55,659,523 (GRCm39) Y1999C probably damaging Het
Rims2 A T 15: 39,208,809 (GRCm39) Q204L possibly damaging Het
Slc6a16 T G 7: 44,910,532 (GRCm39) H352Q probably benign Het
Snx9 T A 17: 5,942,084 (GRCm39) C70* probably null Het
Srprb A G 9: 103,074,800 (GRCm39) I114T probably damaging Het
Tas2r119 A T 15: 32,178,114 (GRCm39) I227F probably damaging Het
Tasor2 A G 13: 3,634,996 (GRCm39) S604P possibly damaging Het
Tg A T 15: 66,709,906 (GRCm39) Y163F probably benign Het
Tm2d2 A G 8: 25,512,784 (GRCm39) T211A probably damaging Het
Tmem132b A G 5: 125,699,710 (GRCm39) S83G probably benign Het
Trav9-4 T C 14: 53,913,886 (GRCm39) S47P probably benign Het
Vmn2r8 T A 5: 108,950,325 (GRCm39) H174L probably damaging Het
Xrcc1 A G 7: 24,259,270 (GRCm39) D85G possibly damaging Het
Zfp106 C G 2: 120,362,438 (GRCm39) A34P probably damaging Het
Zfp608 A T 18: 55,031,344 (GRCm39) N865K probably damaging Het
Zscan5b A G 7: 6,233,518 (GRCm39) D114G probably benign Het
Other mutations in Or8k39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Or8k39 APN 2 86,563,579 (GRCm39) missense possibly damaging 0.90
IGL00944:Or8k39 APN 2 86,563,905 (GRCm39) missense possibly damaging 0.80
IGL01478:Or8k39 APN 2 86,563,673 (GRCm39) nonsense probably null
IGL01636:Or8k39 APN 2 86,563,945 (GRCm39) nonsense probably null
IGL01887:Or8k39 APN 2 86,563,030 (GRCm39) missense probably benign 0.03
IGL02008:Or8k39 APN 2 86,563,521 (GRCm39) missense possibly damaging 0.90
IGL02470:Or8k39 APN 2 86,563,929 (GRCm39) missense probably damaging 0.97
IGL02560:Or8k39 APN 2 86,563,578 (GRCm39) missense probably damaging 1.00
R1782:Or8k39 UTSW 2 86,563,026 (GRCm39) missense probably benign 0.03
R2234:Or8k39 UTSW 2 86,563,921 (GRCm39) missense possibly damaging 0.94
R2866:Or8k39 UTSW 2 86,563,773 (GRCm39) missense possibly damaging 0.95
R3027:Or8k39 UTSW 2 86,563,930 (GRCm39) missense possibly damaging 0.79
R4275:Or8k39 UTSW 2 86,563,936 (GRCm39) missense probably damaging 1.00
R4799:Or8k39 UTSW 2 86,563,018 (GRCm39) splice site probably null
R5016:Or8k39 UTSW 2 86,563,090 (GRCm39) missense probably benign 0.17
R5154:Or8k39 UTSW 2 86,563,121 (GRCm39) nonsense probably null
R5355:Or8k39 UTSW 2 86,563,680 (GRCm39) missense probably damaging 1.00
R6265:Or8k39 UTSW 2 86,563,299 (GRCm39) missense probably damaging 0.99
R7382:Or8k39 UTSW 2 86,563,129 (GRCm39) missense probably benign 0.02
R8009:Or8k39 UTSW 2 86,563,848 (GRCm39) missense probably damaging 0.99
R8850:Or8k39 UTSW 2 86,563,302 (GRCm39) missense probably damaging 0.99
R9652:Or8k39 UTSW 2 86,563,636 (GRCm39) missense probably damaging 1.00
X0028:Or8k39 UTSW 2 86,563,092 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GAACCTGGAAAGCCTCATGC -3'
(R):5'- TTGCTCTGTTCAAACACTCATG -3'

Sequencing Primer
(F):5'- GCCTCATGCCTGCTATATAAAGG -3'
(R):5'- GCTCTGTTCAAACACTCATGAAATTC -3'
Posted On 2016-11-08