Incidental Mutation 'R5016:Or8k39'
ID 385557
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 042607-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.224) question?
Stock # R5016 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86563019-86563954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 86563090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 289 (I289L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000214317]
AlphaFold A0A1L1SRK6
Predicted Effect probably benign
Transcript: ENSMUST00000099876
AA Change: I289L

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000097461
Gene: ENSMUSG00000075173
AA Change: I289L

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: I289L

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
Meta Mutation Damage Score 0.3470 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.2%
  • 10x: 95.1%
  • 20x: 91.0%
Validation Efficiency 97% (56/58)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,491,631 (GRCm39) P768S probably damaging Het
Adprhl1 A G 8: 13,274,889 (GRCm39) L623P possibly damaging Het
Anapc1 A T 2: 128,449,095 (GRCm39) probably benign Het
Ankzf1 C A 1: 75,172,622 (GRCm39) probably benign Het
Ash1l A G 3: 88,889,630 (GRCm39) D503G probably damaging Het
Atp7b T C 8: 22,505,885 (GRCm39) probably null Het
Bach1 T A 16: 87,516,206 (GRCm39) V249D possibly damaging Het
Ccdc158 A G 5: 92,805,751 (GRCm39) S335P probably benign Het
Chd9 T A 8: 91,733,254 (GRCm39) C1374* probably null Het
Col16a1 C T 4: 129,972,988 (GRCm39) T643M probably benign Het
Cygb A G 11: 116,540,840 (GRCm39) F49L probably benign Het
Dnah17 G C 11: 117,971,592 (GRCm39) T2147S probably damaging Het
Drd3 C A 16: 43,582,609 (GRCm39) A34E possibly damaging Het
Ephb6 G A 6: 41,595,041 (GRCm39) R685Q probably benign Het
Ezh1 G A 11: 101,090,063 (GRCm39) probably benign Het
Gpr19 T A 6: 134,846,880 (GRCm39) K231* probably null Het
Gpr61 A G 3: 108,057,983 (GRCm39) V226A possibly damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hnrnpul2 A G 19: 8,800,189 (GRCm39) K185R possibly damaging Het
Igsf9 A C 1: 172,318,279 (GRCm39) T140P probably damaging Het
Ksr2 A G 5: 117,638,857 (GRCm39) D87G probably benign Het
Llgl2 A G 11: 115,744,250 (GRCm39) E843G probably damaging Het
Ltbp4 GT G 7: 27,027,110 (GRCm39) probably null Het
Luc7l2 A G 6: 38,562,036 (GRCm39) I20V possibly damaging Het
Mcm6 G A 1: 128,271,164 (GRCm39) T485M probably damaging Het
Miox A G 15: 89,219,767 (GRCm39) D85G probably null Het
Nudt18 T C 14: 70,816,903 (GRCm39) F169S probably benign Het
Nxpe4 A G 9: 48,304,185 (GRCm39) N91D probably benign Het
Or13c7 T C 4: 43,854,596 (GRCm39) S96P probably benign Het
Or6c215 A G 10: 129,637,662 (GRCm39) V244A probably benign Het
Pdss2 G T 10: 43,098,001 (GRCm39) A82S probably damaging Het
Ptprs T C 17: 56,726,070 (GRCm39) D998G probably damaging Het
Rasd2 C A 8: 75,948,603 (GRCm39) N176K probably damaging Het
Serpinb3a A G 1: 106,974,060 (GRCm39) F284L probably damaging Het
Skint6 T A 4: 113,028,730 (GRCm39) probably null Het
Slc12a6 C T 2: 112,186,972 (GRCm39) probably benign Het
Slc22a19 G A 19: 7,651,737 (GRCm39) T490M probably benign Het
Sp2 A T 11: 96,846,658 (GRCm39) C562S probably damaging Het
Specc1 A G 11: 62,009,783 (GRCm39) E433G possibly damaging Het
Sspo C T 6: 48,429,214 (GRCm39) Q451* probably null Het
St6galnac1 A T 11: 116,656,706 (GRCm39) S478T probably damaging Het
Steap4 C T 5: 8,026,699 (GRCm39) R221* probably null Het
Ugt1a5 C G 1: 88,093,963 (GRCm39) R64G probably benign Het
Vmn1r202 A T 13: 22,686,375 (GRCm39) F14Y probably damaging Het
Vmn2r79 T C 7: 86,686,548 (GRCm39) V643A probably benign Het
Vmn2r91 C A 17: 18,330,322 (GRCm39) Y535* probably null Het
Wdr3 A T 3: 100,048,936 (GRCm39) probably benign Het
Wdr95 T C 5: 149,468,266 (GRCm39) M41T 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
R5154:Or8k39 UTSW 2 86,563,121 (GRCm39) nonsense probably null
R5355:Or8k39 UTSW 2 86,563,680 (GRCm39) missense probably damaging 1.00
R5624:Or8k39 UTSW 2 86,563,149 (GRCm39) missense probably benign 0.45
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'- GCCTCATGCCTGCTATATAAAGG -3'
(R):5'- ATGAACTCTACTGAGGGCAGGC -3'

Sequencing Primer
(F):5'- TCTAGTAGTCAGGGACACAGTGTATC -3'
(R):5'- CTCTACTGAGGGCAGGCACAAG -3'
Posted On 2016-05-10