Incidental Mutation 'R8414:Or4c117'
ID 652816
Institutional Source Beutler Lab
Gene Symbol Or4c117
Ensembl Gene ENSMUSG00000075101
Gene Name olfactory receptor family 4 subfamily C member 117
Synonyms MOR233-14, Olfr1222, GA_x6K02T2Q125-50604368-50603433
MMRRC Submission 067768-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R8414 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 88955138-88956073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88956058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 6 (F6L)
Ref Sequence ENSEMBL: ENSMUSP00000150144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099794] [ENSMUST00000214027] [ENSMUST00000215816]
AlphaFold Q7TR02
Predicted Effect probably benign
Transcript: ENSMUST00000099794
AA Change: F6L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000097382
Gene: ENSMUSG00000075101
AA Change: F6L

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.3e-44 PFAM
Pfam:7tm_1 39 286 4.8e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214027
AA Change: F6L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000215816
AA Change: F6L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA467197 T C 2: 122,480,237 (GRCm39) Y33H probably damaging Het
Abcc10 T C 17: 46,623,273 (GRCm39) R880G probably benign Het
Abcg2 T A 6: 58,646,221 (GRCm39) Y246N probably benign Het
Abhd18 A G 3: 40,888,061 (GRCm39) M302V probably benign Het
Ablim2 A G 5: 36,032,235 (GRCm39) D568G possibly damaging Het
Alpk2 T C 18: 65,440,542 (GRCm39) R284G possibly damaging Het
AU021092 T C 16: 5,034,649 (GRCm39) Y191C probably damaging Het
Bdp1 T A 13: 100,200,985 (GRCm39) T751S probably benign Het
Brme1 A T 8: 84,893,952 (GRCm39) E373V probably damaging Het
Ccdc136 A G 6: 29,412,929 (GRCm39) E438G probably damaging Het
Cul2 C A 18: 3,399,912 (GRCm39) N15K probably benign Het
Eml2 C A 7: 18,913,220 (GRCm39) Q73K probably damaging Het
Epha6 C A 16: 59,826,030 (GRCm39) R588S probably damaging Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Fbxw28 C T 9: 109,155,604 (GRCm39) W389* probably null Het
Fcgbpl1 T A 7: 27,842,158 (GRCm39) C698S probably damaging Het
Gbp4 A T 5: 105,284,703 (GRCm39) V62E probably benign Het
Gtf2h1 C A 7: 46,464,768 (GRCm39) T401K possibly damaging Het
Hif1a G T 12: 73,984,428 (GRCm39) M294I probably benign Het
Irak2 A G 6: 113,663,903 (GRCm39) N484S probably benign Het
Kcnj16 A G 11: 110,916,441 (GRCm39) T368A probably benign Het
Kcnq1 G A 7: 142,917,403 (GRCm39) G588D probably damaging Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Nckap5 T G 1: 125,942,357 (GRCm39) E1582D probably damaging Het
Nrip3 A G 7: 109,362,735 (GRCm39) I183T possibly damaging Het
Or10g9 T A 9: 39,912,241 (GRCm39) H94L probably benign Het
Pcdha2 C T 18: 37,074,619 (GRCm39) S750L probably damaging Het
Pik3r2 T C 8: 71,223,079 (GRCm39) Y447C probably damaging Het
Poteg T C 8: 27,938,068 (GRCm39) Y75H probably benign Het
Proser1 G C 3: 53,385,977 (GRCm39) G620R probably damaging Het
Prpsap1 A T 11: 116,369,439 (GRCm39) L164H probably damaging Het
Rfc3 A T 5: 151,568,381 (GRCm39) V195E possibly damaging Het
Sarm1 A T 11: 78,378,794 (GRCm39) V417D probably damaging Het
She A G 3: 89,739,174 (GRCm39) T122A probably benign Het
Spata31e1 A G 13: 49,941,273 (GRCm39) S56P probably damaging Het
Srpra A G 9: 35,126,133 (GRCm39) E442G probably benign Het
Sult2a6 T A 7: 13,984,357 (GRCm39) R124S probably damaging Het
Synm T C 7: 67,383,511 (GRCm39) T1384A probably benign Het
Tenm3 A G 8: 48,746,544 (GRCm39) V1087A probably damaging Het
Ticam1 T A 17: 56,578,340 (GRCm39) I252L probably benign Het
Trbv31 C A 6: 41,534,697 (GRCm39) D89Y possibly damaging Het
Trpc7 G A 13: 56,970,282 (GRCm39) T434I probably benign Het
Tubgcp4 T A 2: 121,024,634 (GRCm39) I603N probably benign Het
Ugt3a1 A G 15: 9,310,669 (GRCm39) N317S possibly damaging Het
Vdac1 C T 11: 52,267,330 (GRCm39) T77I possibly damaging Het
Vmn2r113 A T 17: 23,177,753 (GRCm39) R846* probably null Het
Zc3h12d GCCC GCC 10: 7,715,735 (GRCm39) probably null Het
Zranb2 G T 3: 157,252,312 (GRCm39) R310S unknown Het
Other mutations in Or4c117
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Or4c117 APN 2 88,956,072 (GRCm39) start codon destroyed probably null 1.00
IGL01876:Or4c117 APN 2 88,956,081 (GRCm39) splice site probably null
IGL02090:Or4c117 APN 2 88,956,021 (GRCm39) missense probably benign 0.20
IGL03230:Or4c117 APN 2 88,955,892 (GRCm39) missense probably damaging 1.00
R3907:Or4c117 UTSW 2 88,955,927 (GRCm39) nonsense probably null
R4272:Or4c117 UTSW 2 88,955,706 (GRCm39) missense probably damaging 1.00
R4975:Or4c117 UTSW 2 88,955,682 (GRCm39) missense probably damaging 1.00
R4981:Or4c117 UTSW 2 88,955,845 (GRCm39) missense probably benign 0.02
R5466:Or4c117 UTSW 2 88,955,477 (GRCm39) missense probably benign 0.25
R5768:Or4c117 UTSW 2 88,955,793 (GRCm39) missense probably benign 0.01
R7296:Or4c117 UTSW 2 88,955,180 (GRCm39) missense probably benign 0.03
R7757:Or4c117 UTSW 2 88,955,333 (GRCm39) missense possibly damaging 0.80
R8911:Or4c117 UTSW 2 88,955,608 (GRCm39) missense probably benign 0.00
R9003:Or4c117 UTSW 2 88,956,024 (GRCm39) missense possibly damaging 0.80
R9105:Or4c117 UTSW 2 88,955,995 (GRCm39) missense probably benign 0.01
R9407:Or4c117 UTSW 2 88,955,629 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- AGAAGTCTACAATCATCTTGGGG -3'
(R):5'- GCTGATTACTCAAAGAAAGCTGAC -3'

Sequencing Primer
(F):5'- AAGTCTACAATCATCTTGGGGGTGAC -3'
(R):5'- GATTACTCAAAGAAAGCTGACTACTC -3'
Posted On 2020-10-20