Incidental Mutation 'R8863:Or8c17'
ID 675776
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 068679-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R8863 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 38179297-38181049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38180655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 274 (V274A)
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: V282A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000091387
Gene: ENSMUSG00000096427
AA Change: V282A

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: V274A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.3%
Validation Efficiency 100% (44/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A G 7: 127,836,123 (GRCm39) S157P possibly damaging Het
Aasdhppt C A 9: 4,309,424 (GRCm39) A5S possibly damaging Het
Aoc1l2 T C 6: 48,907,042 (GRCm39) L14P probably benign Het
Asb16 T C 11: 102,168,058 (GRCm39) Y373H probably damaging Het
Axin1 T C 17: 26,362,375 (GRCm39) S240P probably benign Het
C2cd5 T C 6: 142,987,088 (GRCm39) I505V possibly damaging Het
Camk2g A G 14: 20,810,244 (GRCm39) L305P probably damaging Het
Ccm2 A G 11: 6,535,211 (GRCm39) K156E probably damaging Het
Cdh23 G T 10: 60,212,613 (GRCm39) Y1600* probably null Het
Cyp2c29 A G 19: 39,261,810 (GRCm39) Q16R probably benign Het
Ebf1 T A 11: 44,774,666 (GRCm39) V221E probably damaging Het
Fcgbpl1 A G 7: 27,831,006 (GRCm39) D73G probably damaging Het
Gtpbp1 A G 15: 79,591,262 (GRCm39) E125G possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Igfbp3 A G 11: 7,163,568 (GRCm39) C75R probably damaging Het
Itgb4 T A 11: 115,875,898 (GRCm39) C478* probably null Het
L3mbtl4 T A 17: 68,986,419 (GRCm39) C488S probably benign Het
Lysmd4 T C 7: 66,873,493 (GRCm39) S43P probably damaging Het
Mocs2 A G 13: 114,962,815 (GRCm39) K167E probably damaging Het
Mpl C A 4: 118,314,602 (GRCm39) V23F Het
Muc4 A T 16: 32,570,280 (GRCm39) I447F possibly damaging Het
Mxi1 G A 19: 53,360,126 (GRCm39) G283S probably damaging Het
Ncf2 A G 1: 152,711,864 (GRCm39) *526W probably null Het
Oas1a C T 5: 121,043,943 (GRCm39) G63D probably damaging Het
Or2q1 A T 6: 42,794,780 (GRCm39) Y125F probably damaging Het
Or5ac15 G T 16: 58,939,712 (GRCm39) C240* probably null Het
Piwil4 T C 9: 14,631,383 (GRCm39) N409S probably benign Het
Pkhd1l1 C T 15: 44,433,382 (GRCm39) Q3421* probably null Het
Plekha7 T A 7: 115,753,875 (GRCm39) D664V probably damaging Het
Pole T C 5: 110,437,233 (GRCm39) M66T possibly damaging Het
Pon2 C T 6: 5,265,480 (GRCm39) probably null Het
Pop4 G A 7: 37,962,649 (GRCm39) A205V possibly damaging Het
Ppp6r3 T A 19: 3,521,030 (GRCm39) E590D probably damaging Het
Ptpn6 T A 6: 124,709,309 (GRCm39) I96F probably damaging Het
Rfk T A 19: 17,372,590 (GRCm39) N37K probably benign Het
Syne1 G T 10: 5,049,527 (GRCm39) Q7535K probably damaging Het
Tcf15 A T 2: 151,986,023 (GRCm39) I160F probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tmem160 T C 7: 16,186,889 (GRCm39) M1T probably null Het
Tpp1 C T 7: 105,398,814 (GRCm39) R205H probably benign Het
Trnt1 T C 6: 106,751,443 (GRCm39) F140S probably damaging Het
Ttf1 T C 2: 28,969,492 (GRCm39) probably null Het
Vmn1r172 A T 7: 23,359,210 (GRCm39) I32F probably benign Het
Vwc2l T A 1: 70,768,063 (GRCm39) N42K 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
R6950:Or8c17 UTSW 9 38,179,842 (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
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'- GGTACAGCTATTATCTTATGTTGCC -3'
(R):5'- AGAAGCAGTAGATATGACACCATC -3'

Sequencing Primer
(F):5'- TAAGGGTTGGTCCAAAGC -3'
(R):5'- GCAGTAGATATGACACCATCTTAAAC -3'
Posted On 2021-07-15