Incidental Mutation 'R6950:Or8c17'
ID 541220
Institutional Source Beutler Lab
Gene Symbol Or8c17
Ensembl Gene ENSMUSG00000096427
Gene Name olfactory receptor family 8 subfamily C member 17
Synonyms GA_x6K02T2PVTD-31962461-31963411, MOR170-1, Olfr895
MMRRC Submission 045062-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R6950 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 38179297-38181049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38179842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 3 (N3I)
Ref Sequence ENSEMBL: ENSMUSP00000148605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093864] [ENSMUST00000212156]
AlphaFold L7N210
Predicted Effect probably damaging
Transcript: ENSMUST00000093864
AA Change: N11I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000091387
Gene: ENSMUSG00000096427
AA Change: N11I

DomainStartEndE-ValueType
Pfam:7tm_4 37 313 4.6e-47 PFAM
Pfam:7tm_1 47 246 3.4e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212156
AA Change: N3I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.4%
Validation Efficiency 98% (59/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,229,480 (GRCm39) V404D probably damaging Het
Adcy2 A G 13: 69,036,184 (GRCm39) M159T possibly damaging Het
Agtpbp1 T C 13: 59,598,080 (GRCm39) K674R probably benign Het
Atxn7 C A 14: 14,095,511 (GRCm38) P403H probably damaging Het
Cav3 C T 6: 112,449,171 (GRCm39) T63I probably damaging Het
Ccr6 T C 17: 8,475,898 (GRCm39) *368Q probably null Het
Cdh8 A T 8: 99,757,395 (GRCm39) N734K probably benign Het
Ces5a G T 8: 94,257,402 (GRCm39) N134K probably benign Het
Cisd3 T G 11: 97,576,986 (GRCm39) probably null Het
Cyp4f39 T G 17: 32,711,280 (GRCm39) C476G probably damaging Het
Dffb A T 4: 154,054,549 (GRCm39) M180K probably benign Het
Dock4 A G 12: 40,783,313 (GRCm39) E749G possibly damaging Het
Eogt A G 6: 97,111,343 (GRCm39) F173L possibly damaging Het
Ephb1 T A 9: 102,072,108 (GRCm39) T224S probably benign Het
Fam114a1 A T 5: 65,137,322 (GRCm39) E88D possibly damaging Het
Fbn2 A C 18: 58,168,993 (GRCm39) M2262R probably null Het
Fsip2 A G 2: 82,816,332 (GRCm39) I4022V probably benign Het
Gapvd1 A G 2: 34,574,257 (GRCm39) V1301A probably benign Het
Gch1 A T 14: 47,426,723 (GRCm39) M1K probably null Het
Hes1 T C 16: 29,886,089 (GRCm39) F231S probably damaging Het
Hoxb2 A G 11: 96,242,727 (GRCm39) T31A probably benign Het
Ifngr1 T A 10: 19,483,041 (GRCm39) V265D probably damaging Het
Ifnl3 A T 7: 28,222,432 (GRCm39) I58F probably benign Het
Igf2r T C 17: 12,937,605 (GRCm39) T561A probably benign Het
Igfbpl1 T A 4: 45,815,494 (GRCm39) H214L probably damaging Het
Irf8 A G 8: 121,481,864 (GRCm39) T318A probably benign Het
Kmt2d T C 15: 98,737,901 (GRCm39) probably benign Het
Lratd2 T C 15: 60,695,563 (GRCm39) D61G probably benign Het
Lrrc36 G T 8: 106,152,021 (GRCm39) probably null Het
Msl2 C T 9: 100,979,174 (GRCm39) P516L possibly damaging Het
Naaladl1 A T 19: 6,156,011 (GRCm39) I62F probably damaging Het
Neto2 G T 8: 86,397,072 (GRCm39) P60Q probably damaging Het
Nipsnap3b A T 4: 53,015,136 (GRCm39) H61L possibly damaging Het
Npb T C 11: 120,499,473 (GRCm39) F47L probably benign Het
Nutm1 T A 2: 112,078,904 (GRCm39) T1004S probably benign Het
Or4a78 T A 2: 89,497,895 (GRCm39) I112F probably benign Het
Or4z4 A G 19: 12,076,754 (GRCm39) V83A probably benign Het
Oxr1 C A 15: 41,683,951 (GRCm39) A439E probably benign Het
Phf14 A T 6: 12,006,854 (GRCm39) K835N probably damaging Het
Prkdc T A 16: 15,633,850 (GRCm39) V3518E probably damaging Het
Ptpru T A 4: 131,503,663 (GRCm39) E1132D probably damaging Het
Rapgef6 T A 11: 54,567,206 (GRCm39) M1129K probably benign Het
Rgmb T C 17: 16,028,048 (GRCm39) K224E probably damaging Het
Ryr3 T C 2: 112,517,170 (GRCm39) I3318V possibly damaging Het
Slc9a4 A G 1: 40,642,045 (GRCm39) Y338C probably damaging Het
Smg5 T C 3: 88,256,576 (GRCm39) probably null Het
Tenm3 A T 8: 48,693,514 (GRCm39) Y1789* probably null Het
Tgm7 T C 2: 120,924,128 (GRCm39) E598G probably damaging Het
Tiam1 C T 16: 89,657,092 (GRCm39) probably null Het
Tmem175 A G 5: 108,790,948 (GRCm39) N166S probably benign Het
Trp73 G T 4: 154,146,510 (GRCm39) N368K probably benign Het
Trpc3 C T 3: 36,692,739 (GRCm39) R751H probably damaging Het
Trpm4 C A 7: 44,968,704 (GRCm39) A410S probably damaging Het
Ube2t T G 1: 134,899,095 (GRCm39) probably null Het
Vmn2r114 C T 17: 23,529,137 (GRCm39) A322T probably benign Het
Xylt2 C T 11: 94,558,455 (GRCm39) R567H probably benign Het
Zfp119b T C 17: 56,246,137 (GRCm39) K318E probably damaging Het
Zfp626 T G 7: 27,518,339 (GRCm39) L440R probably damaging Het
Zfp850 A G 7: 27,689,939 (GRCm39) S90P possibly damaging Het
Other mutations in Or8c17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Or8c17 APN 9 38,179,801 (GRCm39) splice site probably benign
IGL01477:Or8c17 APN 9 38,180,615 (GRCm39) missense possibly damaging 0.74
IGL02150:Or8c17 APN 9 38,180,564 (GRCm39) missense possibly damaging 0.56
R0616:Or8c17 UTSW 9 38,180,630 (GRCm39) missense probably benign 0.08
R0738:Or8c17 UTSW 9 38,180,421 (GRCm39) missense possibly damaging 0.93
R3155:Or8c17 UTSW 9 38,179,836 (GRCm39) start codon destroyed probably null 0.98
R3824:Or8c17 UTSW 9 38,179,814 (GRCm39) missense probably benign
R3825:Or8c17 UTSW 9 38,179,814 (GRCm39) missense probably benign
R4023:Or8c17 UTSW 9 38,180,757 (GRCm39) missense possibly damaging 0.83
R4687:Or8c17 UTSW 9 38,180,710 (GRCm39) missense probably damaging 1.00
R4692:Or8c17 UTSW 9 38,179,826 (GRCm39) nonsense probably null
R6171:Or8c17 UTSW 9 38,179,898 (GRCm39) nonsense probably null
R6736:Or8c17 UTSW 9 38,179,866 (GRCm39) missense probably damaging 1.00
R7256:Or8c17 UTSW 9 38,180,004 (GRCm39) missense probably damaging 0.98
R7774:Or8c17 UTSW 9 38,180,655 (GRCm39) missense probably damaging 0.99
R7937:Or8c17 UTSW 9 38,180,344 (GRCm39) missense probably benign 0.16
R8354:Or8c17 UTSW 9 38,180,513 (GRCm39) missense probably benign 0.02
R8772:Or8c17 UTSW 9 38,180,231 (GRCm39) missense probably benign 0.00
R8863:Or8c17 UTSW 9 38,180,655 (GRCm39) missense probably damaging 0.99
R9371:Or8c17 UTSW 9 38,179,926 (GRCm39) missense possibly damaging 0.94
Z1088:Or8c17 UTSW 9 38,179,908 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCCCAGCATCTTTCTGAAG -3'
(R):5'- AGCCCATCAGCATTTTGGGG -3'

Sequencing Primer
(F):5'- CCAGCATCTTTCTGAAGTGTTATAC -3'
(R):5'- CCCATCAGCATTTTGGGGGTAAAG -3'
Posted On 2018-11-28