Incidental Mutation 'R0714:Or8k17'
ID 85891
Institutional Source Beutler Lab
Gene Symbol Or8k17
Ensembl Gene ENSMUSG00000075195
Gene Name olfactory receptor family 8 subfamily K member 17
Synonyms GA_x6K02T2Q125-47716657-47715716, MOR187-2, Olfr1048
MMRRC Submission 038897-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R0714 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86066215-86067177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 86066498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 227 (L227R)
Ref Sequence ENSEMBL: ENSMUSP00000097484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099900] [ENSMUST00000215607] [ENSMUST00000216056]
AlphaFold Q8VGS2
Predicted Effect probably damaging
Transcript: ENSMUST00000099900
AA Change: L227R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097484
Gene: ENSMUSG00000075195
AA Change: L227R

DomainStartEndE-ValueType
Pfam:7tm_4 38 315 1.4e-49 PFAM
Pfam:7TM_GPCR_Srsx 42 312 3.5e-6 PFAM
Pfam:7tm_1 48 297 4.5e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215607
AA Change: L220R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000216056
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency 100% (52/52)
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
Abhd17b G A 19: 21,655,973 (GRCm39) R85H probably damaging Het
Adamts13 A G 2: 26,876,997 (GRCm39) probably benign Het
Alb T C 5: 90,610,665 (GRCm39) S82P possibly damaging Het
Arhgap10 G A 8: 78,078,316 (GRCm39) probably benign Het
Aspscr1 T A 11: 120,594,493 (GRCm39) probably null Het
Capn3 A T 2: 120,322,361 (GRCm39) Q359L probably benign Het
Ccdc110 A T 8: 46,396,047 (GRCm39) D646V possibly damaging Het
Ccr2 G A 9: 123,905,966 (GRCm39) G82D probably benign Het
Col6a4 A G 9: 105,895,102 (GRCm39) probably benign Het
Dhx29 T C 13: 113,064,499 (GRCm39) V58A possibly damaging Het
Dhx35 C A 2: 158,686,103 (GRCm39) Q593K probably benign Het
Dmd T C X: 83,353,503 (GRCm39) L2240P probably benign Het
Emc7 A G 2: 112,293,277 (GRCm39) N162S possibly damaging Het
Exoc7 A T 11: 116,184,120 (GRCm39) N483K probably benign Het
Fbxo34 T C 14: 47,767,486 (GRCm39) V282A probably damaging Het
Fndc3c1 A T X: 105,468,972 (GRCm39) Y1087* probably null Het
Kat2a A G 11: 100,602,178 (GRCm39) V192A probably damaging Het
Larp7 T C 3: 127,340,833 (GRCm39) D64G probably damaging Het
Lnx1 A G 5: 74,768,570 (GRCm39) probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Nckipsd C A 9: 108,691,333 (GRCm39) probably benign Het
Ndufab1 A G 7: 121,695,960 (GRCm39) probably benign Het
Nedd4 G A 9: 72,638,728 (GRCm39) probably benign Het
Nrsn2 G A 2: 152,216,042 (GRCm39) R54* probably null Het
Nt5dc3 T A 10: 86,648,238 (GRCm39) V171E probably damaging Het
Nudt8 A G 19: 4,052,023 (GRCm39) *211W probably null Het
Nxph4 A G 10: 127,362,808 (GRCm39) S28P probably damaging Het
Or4f14b A G 2: 111,774,898 (GRCm39) V301A probably benign Het
Or9g4b A G 2: 85,616,743 (GRCm39) D296G probably damaging Het
Pcdhb15 A G 18: 37,607,674 (GRCm39) Y302C probably damaging Het
Pkdrej A G 15: 85,699,712 (GRCm39) S2075P possibly damaging Het
Sdhc A T 1: 170,957,488 (GRCm39) probably benign Het
Sidt2 A G 9: 45,858,358 (GRCm39) probably benign Het
Sik2 T C 9: 50,818,736 (GRCm39) M413V probably benign Het
Slc5a4b A G 10: 75,917,341 (GRCm39) F232L probably benign Het
Slx1b A T 7: 126,291,620 (GRCm39) I148N probably damaging Het
Spag17 C G 3: 99,987,472 (GRCm39) S1587R probably damaging Het
St13 T C 15: 81,267,228 (GRCm39) D74G probably benign Het
St7l G A 3: 104,782,244 (GRCm39) R207H probably benign Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,144,734 (GRCm39) probably null Het
Tacc3 T C 5: 33,828,741 (GRCm39) probably benign Het
Tbx22 G A X: 106,728,731 (GRCm39) V421I probably benign Het
Tmc3 G A 7: 83,265,969 (GRCm39) A705T possibly damaging Het
Tmem130 C T 5: 144,674,619 (GRCm39) V369M probably damaging Het
Tonsl T C 15: 76,517,921 (GRCm39) probably benign Het
Trpm6 T A 19: 18,815,451 (GRCm39) I1179N possibly damaging Het
Ttc13 A T 8: 125,401,105 (GRCm39) S624T probably damaging Het
Utp23 T G 15: 51,745,665 (GRCm39) V55G possibly damaging Het
Vps11 A G 9: 44,270,953 (GRCm39) V143A possibly damaging Het
Vps50 G T 6: 3,571,105 (GRCm39) V618F probably benign Het
Other mutations in Or8k17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01962:Or8k17 APN 2 86,066,456 (GRCm39) missense probably damaging 1.00
IGL01974:Or8k17 APN 2 86,066,304 (GRCm39) missense probably benign 0.26
IGL03072:Or8k17 APN 2 86,066,804 (GRCm39) missense probably damaging 1.00
R1630:Or8k17 UTSW 2 86,066,430 (GRCm39) missense probably damaging 1.00
R1907:Or8k17 UTSW 2 86,066,454 (GRCm39) missense possibly damaging 0.83
R5642:Or8k17 UTSW 2 86,066,276 (GRCm39) missense probably damaging 1.00
R7066:Or8k17 UTSW 2 86,067,002 (GRCm39) missense probably damaging 1.00
R7642:Or8k17 UTSW 2 86,066,660 (GRCm39) nonsense probably null
R8158:Or8k17 UTSW 2 86,066,504 (GRCm39) missense probably damaging 1.00
R8215:Or8k17 UTSW 2 86,066,862 (GRCm39) missense probably benign 0.00
R8217:Or8k17 UTSW 2 86,066,862 (GRCm39) missense probably benign 0.00
R8218:Or8k17 UTSW 2 86,066,862 (GRCm39) missense probably benign 0.00
R8295:Or8k17 UTSW 2 86,066,916 (GRCm39) missense probably benign 0.01
R8836:Or8k17 UTSW 2 86,066,888 (GRCm39) missense probably benign 0.23
R9416:Or8k17 UTSW 2 86,066,744 (GRCm39) missense probably damaging 0.97
R9457:Or8k17 UTSW 2 86,066,816 (GRCm39) missense probably damaging 0.99
R9498:Or8k17 UTSW 2 86,066,838 (GRCm39) missense probably damaging 1.00
Z1176:Or8k17 UTSW 2 86,066,802 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGCTGTAGATCAAGGGATTAAGCATTGG -3'
(R):5'- TCGCAGAGACGCTGTCATGTTC -3'

Sequencing Primer
(F):5'- TCAAGGGATTAAGCATTGGAATCAC -3'
(R):5'- ACAGTGTCTTCCAAGCTGTG -3'
Posted On 2013-11-18