Incidental Mutation 'R1630:Or8k17'
ID 172714
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 039667-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R1630 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86066215-86067177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86066430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 243 (S243P)
Ref Sequence ENSEMBL: ENSMUSP00000150508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099900] [ENSMUST00000215607] [ENSMUST00000216056]
AlphaFold Q8VGS2
Predicted Effect probably damaging
Transcript: ENSMUST00000099900
AA Change: S250P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097484
Gene: ENSMUSG00000075195
AA Change: S250P

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: S243P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216056
Meta Mutation Damage Score 0.4322 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.1%
Validation Efficiency 100% (67/67)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429P17Rik C A 13: 48,114,201 (GRCm39) noncoding transcript Het
9930012K11Rik T C 14: 70,394,629 (GRCm39) E175G probably benign Het
A630091E08Rik A G 7: 98,192,814 (GRCm39) noncoding transcript Het
Atm A T 9: 53,390,973 (GRCm39) L1867Q probably damaging Het
Atp5f1a A G 18: 77,865,267 (GRCm39) D63G possibly damaging Het
Baz2b A T 2: 59,836,474 (GRCm39) S20T unknown Het
C1qtnf7 G A 5: 43,766,503 (GRCm39) C34Y possibly damaging Het
Cactin A G 10: 81,159,559 (GRCm39) T353A probably benign Het
Cdyl A G 13: 35,867,786 (GRCm39) K21E possibly damaging Het
Crispld1 A G 1: 17,799,022 (GRCm39) T48A probably benign Het
Csmd3 T A 15: 47,701,918 (GRCm39) T1722S possibly damaging Het
Dapk1 A T 13: 60,877,345 (GRCm39) E528V probably damaging Het
Dennd4a A G 9: 64,779,164 (GRCm39) D549G probably benign Het
Dnajc5b C A 3: 19,628,905 (GRCm39) N66K probably damaging Het
Dusp16 G T 6: 134,697,524 (GRCm39) R250S probably damaging Het
F10 A G 8: 13,105,551 (GRCm39) N384S probably benign Het
Gabrr2 A G 4: 33,085,647 (GRCm39) S331G probably damaging Het
Gm12185 A C 11: 48,798,717 (GRCm39) I592S probably benign Het
Gm9755 T C 8: 67,967,312 (GRCm39) noncoding transcript Het
Hspg2 T C 4: 137,245,746 (GRCm39) L913P probably damaging Het
Ifna1 T A 4: 88,768,566 (GRCm39) S81R probably benign Het
Iqgap2 T C 13: 95,826,293 (GRCm39) K510E probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lhx6 A G 2: 35,992,913 (GRCm39) Y140H probably damaging Het
Lix1 A G 17: 17,677,420 (GRCm39) H205R probably damaging Het
Masp2 A T 4: 148,698,490 (GRCm39) T524S probably benign Het
Mndal A C 1: 173,701,958 (GRCm39) F115V possibly damaging Het
Morc3 C A 16: 93,663,421 (GRCm39) N541K probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myocd A G 11: 65,087,220 (GRCm39) S236P probably benign Het
Nes T A 3: 87,884,984 (GRCm39) V1037E probably benign Het
Nfkbil1 A G 17: 35,440,140 (GRCm39) W178R probably damaging Het
Nobox A T 6: 43,284,146 (GRCm39) C8* probably null Het
Nwd1 A G 8: 73,393,657 (GRCm39) T348A possibly damaging Het
Or1e23 T C 11: 73,407,546 (GRCm39) T160A probably damaging Het
Or5bw2 T C 7: 6,573,673 (GRCm39) S228P probably damaging Het
Osbp2 T C 11: 3,667,167 (GRCm39) T448A probably benign Het
Plrg1 A G 3: 82,966,070 (GRCm39) D75G probably benign Het
Ppp1r8 T C 4: 132,556,748 (GRCm39) E213G probably benign Het
Rad54l2 A G 9: 106,580,828 (GRCm39) F898L possibly damaging Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rasl10a G C 11: 5,009,542 (GRCm39) R110P probably damaging Het
Rttn T C 18: 89,061,078 (GRCm39) I1082T probably benign Het
Sema6d A G 2: 124,506,265 (GRCm39) D734G possibly damaging Het
Sgce C T 6: 4,719,476 (GRCm39) V44M probably damaging Het
Sgo2b A G 8: 64,380,831 (GRCm39) V667A possibly damaging Het
Shcbp1 A T 8: 4,798,763 (GRCm39) C118* probably null Het
Slain2 C T 5: 73,133,347 (GRCm39) P563S probably damaging Het
Slco1b2 A T 6: 141,602,547 (GRCm39) I167F probably damaging Het
Speg T C 1: 75,399,621 (GRCm39) L2356P probably damaging Het
Sptbn4 A G 7: 27,118,164 (GRCm39) V305A probably benign Het
Sspo G A 6: 48,434,658 (GRCm39) R1050H probably benign Het
Tmem106b A G 6: 13,081,540 (GRCm39) N149S probably benign Het
Tmem200a T C 10: 25,868,812 (GRCm39) T486A probably damaging Het
Tmem212 T A 3: 27,939,250 (GRCm39) T79S possibly damaging Het
Ttll11 A G 2: 35,779,337 (GRCm39) V471A probably damaging Het
Vill A G 9: 118,899,769 (GRCm39) N318D probably benign Het
Vmn2r102 A G 17: 19,899,032 (GRCm39) D458G possibly damaging Het
Zfp472 T A 17: 33,196,952 (GRCm39) C342* probably null Het
Zfp963 A T 8: 70,196,837 (GRCm39) 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
R0714:Or8k17 UTSW 2 86,066,498 (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'- GCATTGATACCTAAAGACTCTTAGAACAGCAT -3'
(R):5'- GGACTCTCGCCTTCACACACCT -3'

Sequencing Primer
(F):5'- AGACTCTTAGAACAGCATTTTTCAC -3'
(R):5'- TACAGTGCAATCATGTCGCAG -3'
Posted On 2014-04-24