Incidental Mutation 'R9105:Or4c117'
ID 691941
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 068917-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R9105 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 88955138-88956073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88955995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 27 (V27I)
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: V27I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000097382
Gene: ENSMUSG00000075101
AA Change: V27I

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: V27I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000215816
AA Change: V27I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.0%
Validation Efficiency 98% (62/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A T 10: 100,439,407 (GRCm39) K139* probably null Het
Acsl5 A T 19: 55,269,002 (GRCm39) K221I probably benign Het
Actrt2 G A 4: 154,751,677 (GRCm39) T153I probably damaging Het
Adam34 C T 8: 44,103,785 (GRCm39) C620Y probably damaging Het
Adgrl2 T C 3: 148,543,289 (GRCm39) K812E possibly damaging Het
Aig1 T C 10: 13,529,339 (GRCm39) T224A probably benign Het
Apbb2 G T 5: 66,460,015 (GRCm39) S694* probably null Het
Apol11b C T 15: 77,524,771 (GRCm39) E5K possibly damaging Het
Bcl3 T A 7: 19,543,175 (GRCm39) I352F probably damaging Het
Btbd19 C T 4: 116,977,961 (GRCm39) R276Q probably damaging Het
Btnl9 G A 11: 49,066,461 (GRCm39) P368S probably benign Het
Calhm5 A G 10: 33,968,144 (GRCm39) V303A probably benign Het
Ccdc97 T C 7: 25,412,537 (GRCm39) T302A probably benign Het
Cdh11 T C 8: 103,360,968 (GRCm39) D790G probably damaging Het
Cep350 T C 1: 155,835,561 (GRCm39) N45S probably damaging Het
Col5a2 T A 1: 45,419,366 (GRCm39) Y1238F probably benign Het
Ctdspl2 C T 2: 121,837,351 (GRCm39) L373F probably damaging Het
Dolpp1 A T 2: 30,289,152 (GRCm39) probably null Het
Efr3b A T 12: 4,031,782 (GRCm39) L340Q probably damaging Het
Ehd4 T C 2: 119,932,760 (GRCm39) N222S probably damaging Het
Fgf8 A C 19: 45,730,490 (GRCm39) probably benign Het
Frmd4a A G 2: 4,539,994 (GRCm39) I205V probably damaging Het
G6pc3 C T 11: 102,084,403 (GRCm39) A271V probably benign Het
Gab1 T C 8: 81,515,589 (GRCm39) D243G probably damaging Het
Gbp9 A G 5: 105,241,942 (GRCm39) I205T probably benign Het
Gtf2b T A 3: 142,489,050 (GRCm39) F304Y probably benign Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Ip6k3 A G 17: 27,364,169 (GRCm39) L293P probably damaging Het
Itgb7 A G 15: 102,135,904 (GRCm39) S44P probably damaging Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Lancl1 T A 1: 67,043,962 (GRCm39) Y346F possibly damaging Het
Lca5l T G 16: 95,960,671 (GRCm39) E602A probably damaging Het
Lcor G A 19: 41,573,311 (GRCm39) A689T possibly damaging Het
Lrp1b A G 2: 41,396,803 (GRCm39) V421A Het
Lrrtm3 A G 10: 63,924,336 (GRCm39) V277A possibly damaging Het
Lypla1 T C 1: 4,911,282 (GRCm39) L189P probably damaging Het
Msantd3 A T 4: 48,560,963 (GRCm39) N180Y possibly damaging Het
Muc17 T C 5: 137,171,238 (GRCm39) Y131C Het
Myo19 T C 11: 84,794,029 (GRCm39) I651T probably damaging Het
Ndst2 T C 14: 20,780,070 (GRCm39) S57G probably benign Het
Or12d16-ps1 C T 17: 37,705,731 (GRCm39) T100I probably benign Het
Or1j14 A G 2: 36,418,294 (GRCm39) Y290C probably damaging Het
Or6p1 T A 1: 174,258,861 (GRCm39) I289N probably damaging Het
Pik3c2a T C 7: 115,972,049 (GRCm39) T794A probably benign Het
Pla2g6 T A 15: 79,183,397 (GRCm39) probably null Het
Pnrc1 C A 4: 33,246,207 (GRCm39) G251* probably null Het
Pramel14 A T 4: 143,718,595 (GRCm39) probably benign Het
Psg17 A T 7: 18,555,333 (GRCm39) V3E probably benign Het
Psmb9 A T 17: 34,401,905 (GRCm39) probably benign Het
Slc12a5 A G 2: 164,838,114 (GRCm39) T982A probably benign Het
Srrd T C 5: 112,485,465 (GRCm39) D286G possibly damaging Het
Tcp10b T C 17: 13,285,236 (GRCm39) S153P probably benign Het
Tmem131 C A 1: 36,854,591 (GRCm39) S886I probably benign Het
Ttk T A 9: 83,745,544 (GRCm39) D630E probably damaging Het
Vnn3 T C 10: 23,740,461 (GRCm39) W255R probably damaging Het
Vps13c T G 9: 67,778,081 (GRCm39) probably benign Het
Wdfy3 T C 5: 102,030,512 (GRCm39) Q2332R probably benign Het
Xkr8 A T 4: 132,459,648 (GRCm39) Y43* probably null 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
R8414:Or4c117 UTSW 2 88,956,058 (GRCm39) missense probably benign 0.00
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
R9407:Or4c117 UTSW 2 88,955,629 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- GAAGAAGTCTACAATCATCTTGGG -3'
(R):5'- AGCTGATTACTCAAAGAAAGCTGAC -3'

Sequencing Primer
(F):5'- AAGTCTACAATCATCTTGGGGGTGAC -3'
(R):5'- GATTACTCAAAGAAAGCTGACTACTC -3'
Posted On 2021-12-30