Incidental Mutation 'IGL03355:Or8c9'
ID 419886
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8c9
Ensembl Gene ENSMUSG00000058270
Gene Name olfactory receptor family 8 subfamily C member 9
Synonyms Olfr25, MOR170-4, GA_x6K02T2PVTD-32017922-32018863, MTPCR18
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL03355
Quality Score
Status
Chromosome 9
Chromosomal Location 38240788-38241855 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38240952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 20 (Q20L)
Ref Sequence ENSEMBL: ENSMUSP00000150567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071449] [ENSMUST00000212354] [ENSMUST00000214155]
AlphaFold Q7TRD6
Predicted Effect probably benign
Transcript: ENSMUST00000071449
AA Change: Q23L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000071393
Gene: ENSMUSG00000058270
AA Change: Q23L

DomainStartEndE-ValueType
Pfam:7tm_4 34 310 3.1e-46 PFAM
Pfam:7tm_1 44 243 8e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212354
AA Change: Q20L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000214155
AA Change: Q20L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt1 T C X: 45,418,624 (GRCm39) V213A probably benign Het
Adam28 A T 14: 68,872,252 (GRCm39) probably benign Het
Apeh T C 9: 107,963,644 (GRCm39) H557R probably benign Het
Atmin T A 8: 117,684,164 (GRCm39) L608* probably null Het
B3gnt5 A T 16: 19,587,903 (GRCm39) M41L probably benign Het
Best3 T C 10: 116,829,010 (GRCm39) F97L possibly damaging Het
Chmp1b2 C A X: 106,831,889 (GRCm39) V180F possibly damaging Het
Col7a1 G A 9: 108,807,228 (GRCm39) V2486M unknown Het
Crym T C 7: 119,798,536 (GRCm39) probably null Het
Cubn T C 2: 13,482,868 (GRCm39) probably null Het
Dnah7b A G 1: 46,158,464 (GRCm39) D349G probably benign Het
Eea1 T C 10: 95,878,074 (GRCm39) probably benign Het
Emc1 C T 4: 139,098,904 (GRCm39) probably benign Het
Eps8 T C 6: 137,489,143 (GRCm39) probably benign Het
Ereg A G 5: 91,236,440 (GRCm39) probably benign Het
Faah G A 4: 115,859,725 (GRCm39) P369S probably benign Het
Fam135a A T 1: 24,068,249 (GRCm39) N703K possibly damaging Het
Frmpd1 T C 4: 45,279,140 (GRCm39) S622P probably damaging Het
Gm10030 A G 9: 110,835,841 (GRCm39) noncoding transcript Het
Gpr179 A T 11: 97,228,434 (GRCm39) S1240R possibly damaging Het
Hax1 A T 3: 89,904,754 (GRCm39) H146Q possibly damaging Het
Ift46 A G 9: 44,693,445 (GRCm39) N31D possibly damaging Het
Kel C T 6: 41,675,821 (GRCm39) probably null Het
Khk A T 5: 31,086,904 (GRCm39) I108L probably benign Het
Morc4 T C X: 138,750,431 (GRCm39) N375S probably null Het
Mta3 A T 17: 84,107,474 (GRCm39) probably benign Het
Nacc2 T C 2: 25,952,249 (GRCm39) K369R probably damaging Het
Nkap T C X: 36,403,323 (GRCm39) probably benign Het
Obscn A T 11: 58,928,618 (GRCm39) L6016Q probably damaging Het
Or52e2 T C 7: 102,804,408 (GRCm39) E182G probably damaging Het
Pde4c T A 8: 71,199,244 (GRCm39) L182Q probably damaging Het
Pla2g10 G T 16: 13,548,284 (GRCm39) probably null Het
Rap1gap2 T A 11: 74,303,170 (GRCm39) I426F probably damaging Het
Rbm33 C A 5: 28,596,059 (GRCm39) probably benign Het
Rnf139 C A 15: 58,771,881 (GRCm39) D635E probably benign Het
Sar1a T C 10: 61,520,718 (GRCm39) V15A possibly damaging Het
Scarb1 A C 5: 125,366,766 (GRCm39) S56A probably benign Het
Scn3a T C 2: 65,290,912 (GRCm39) K1945E possibly damaging Het
Sec62 G A 3: 30,864,071 (GRCm39) G118R unknown Het
Sgce T A 6: 4,689,738 (GRCm39) Q356L probably damaging Het
Slco4c1 A T 1: 96,770,232 (GRCm39) Y277* probably null Het
Smarca4 C T 9: 21,547,132 (GRCm39) T219I probably benign Het
Sphkap A T 1: 83,258,224 (GRCm39) I173N probably damaging Het
Spred3 C T 7: 28,860,997 (GRCm39) C394Y unknown Het
Stra6l A G 4: 45,873,689 (GRCm39) D283G probably benign Het
Tipin A T 9: 64,195,406 (GRCm39) Q4L probably benign Het
Tmprss11c T A 5: 86,379,730 (GRCm39) I380F probably benign Het
Tymp T C 15: 89,259,219 (GRCm39) D195G possibly damaging Het
Ugt2b34 T A 5: 87,054,544 (GRCm39) Y79F probably benign Het
Vmn2r16 T A 5: 109,511,580 (GRCm39) S596T possibly damaging Het
Wdhd1 A G 14: 47,481,346 (GRCm39) S1024P possibly damaging Het
Other mutations in Or8c9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Or8c9 APN 9 38,240,999 (GRCm39) missense probably benign 0.01
IGL02044:Or8c9 APN 9 38,241,461 (GRCm39) missense probably benign 0.16
IGL02698:Or8c9 APN 9 38,241,506 (GRCm39) missense probably benign 0.03
IGL03084:Or8c9 APN 9 38,241,513 (GRCm39) missense probably damaging 0.97
R0453:Or8c9 UTSW 9 38,241,467 (GRCm39) missense probably benign 0.36
R1584:Or8c9 UTSW 9 38,241,427 (GRCm39) missense possibly damaging 0.90
R1707:Or8c9 UTSW 9 38,241,197 (GRCm39) missense probably damaging 0.99
R1719:Or8c9 UTSW 9 38,241,803 (GRCm39) missense probably benign 0.23
R3409:Or8c9 UTSW 9 38,241,640 (GRCm39) missense possibly damaging 0.94
R4810:Or8c9 UTSW 9 38,241,690 (GRCm39) missense probably benign 0.00
R6271:Or8c9 UTSW 9 38,241,578 (GRCm39) missense probably benign 0.09
R6621:Or8c9 UTSW 9 38,241,758 (GRCm39) missense probably damaging 1.00
R7220:Or8c9 UTSW 9 38,241,046 (GRCm39) missense probably damaging 1.00
R7562:Or8c9 UTSW 9 38,241,239 (GRCm39) missense probably damaging 1.00
R7609:Or8c9 UTSW 9 38,241,520 (GRCm39) missense possibly damaging 0.85
R7659:Or8c9 UTSW 9 38,241,012 (GRCm39) missense possibly damaging 0.69
R8375:Or8c9 UTSW 9 38,241,231 (GRCm39) missense probably benign
R8465:Or8c9 UTSW 9 38,241,410 (GRCm39) missense possibly damaging 0.91
X0019:Or8c9 UTSW 9 38,241,255 (GRCm39) missense probably damaging 1.00
X0027:Or8c9 UTSW 9 38,241,098 (GRCm39) missense probably benign 0.22
Posted On 2016-08-02