Incidental Mutation 'R5768:Or4c117'
ID 446364
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 043368-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R5768 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 88955138-88956073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88955793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 94 (E94G)
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: E94G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000097382
Gene: ENSMUSG00000075101
AA Change: E94G

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: ENSMUST00000137595
AA Change: E94G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000120074
Gene: ENSMUSG00000075101
AA Change: E94G

DomainStartEndE-ValueType
Pfam:7tm_1 39 217 1.9e-22 PFAM
Pfam:7tm_4 138 217 1.4e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214027
AA Change: E94G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000215816
AA Change: E94G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Meta Mutation Damage Score 0.1263 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 G A 5: 8,177,426 (GRCm39) T561I probably benign Het
Akp3 T C 1: 87,054,844 (GRCm39) I393T probably damaging Het
Atxn10 A T 15: 85,277,621 (GRCm39) I363F probably benign Het
BC004004 A T 17: 29,501,709 (GRCm39) S83C probably damaging Het
Bin1 T A 18: 32,559,264 (GRCm39) probably null Het
Cacna1c A G 6: 118,674,641 (GRCm39) I541T probably damaging Het
Cand1 A G 10: 119,046,910 (GRCm39) V860A probably benign Het
Ccdc69 T C 11: 54,945,856 (GRCm39) N50S possibly damaging Het
Cd209d T A 8: 3,921,968 (GRCm39) T235S probably benign Het
Cdhr3 G T 12: 33,096,685 (GRCm39) T591K possibly damaging Het
Cherp C T 8: 73,216,957 (GRCm39) D658N probably damaging Het
Clip4 T A 17: 72,113,494 (GRCm39) probably null Het
Cryzl1 C T 16: 91,492,242 (GRCm39) V195M probably damaging Het
Cst11 A T 2: 148,612,387 (GRCm39) Y83* probably null Het
Ddb2 T C 2: 91,042,337 (GRCm39) S419G possibly damaging Het
Ddi2 A T 4: 141,412,901 (GRCm39) L4M probably damaging Het
Dip2b C A 15: 100,055,826 (GRCm39) P393T probably benign Het
Dnmt3a G A 12: 3,935,660 (GRCm39) probably null Het
Elf5 C T 2: 103,279,367 (GRCm39) S196L probably damaging Het
Eps15 C G 4: 109,220,373 (GRCm39) probably null Het
Fra10ac1 T C 19: 38,195,734 (GRCm39) E163G probably benign Het
Gc T C 5: 89,589,125 (GRCm39) T213A probably damaging Het
Grpel1 A T 5: 36,622,503 (GRCm39) probably benign Het
Gsdme G A 6: 50,196,280 (GRCm39) Q377* probably null Het
Hira T C 16: 18,753,768 (GRCm39) probably benign Het
Hsd11b1 T A 1: 192,922,554 (GRCm39) I168F probably damaging Het
Htr6 G A 4: 138,789,015 (GRCm39) R347W probably damaging Het
Ipp A C 4: 116,367,967 (GRCm39) T67P probably damaging Het
Lrfn5 G A 12: 61,886,509 (GRCm39) R99Q probably benign Het
Madd T A 2: 90,998,174 (GRCm39) I649F probably damaging Het
Map2k7 T A 8: 4,295,757 (GRCm39) D368E probably benign Het
Mppe1 T G 18: 67,358,889 (GRCm39) T360P possibly damaging Het
Msi2 A G 11: 88,608,564 (GRCm39) F2L probably damaging Het
Nectin3 T C 16: 46,279,180 (GRCm39) Q266R probably damaging Het
Nfasc T C 1: 132,532,883 (GRCm39) H691R probably benign Het
Oprm1 G A 10: 6,739,026 (GRCm39) G51D probably damaging Het
Or5ac15 TGAAGAAGAA TGAAGAA 16: 58,940,335 (GRCm39) probably benign Het
Papss2 G A 19: 32,638,119 (GRCm39) probably null Het
Pi4ka T C 16: 17,172,736 (GRCm39) K549E probably benign Het
Plekha6 A G 1: 133,208,116 (GRCm39) T596A probably benign Het
Polr2f A G 15: 79,035,845 (GRCm39) D117G probably damaging Het
Psd T C 19: 46,301,178 (GRCm39) E381G possibly damaging Het
Rfx6 G A 10: 51,602,976 (GRCm39) R831H probably damaging Het
Rpp25l A T 4: 41,712,649 (GRCm39) L42Q probably damaging Het
Ryr3 T C 2: 112,583,442 (GRCm39) M2810V probably benign Het
Sdk1 C A 5: 142,129,626 (GRCm39) L1616I probably benign Het
Spock2 T A 10: 59,962,029 (GRCm39) F215I probably damaging Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Tchh A T 3: 93,353,488 (GRCm39) E976V unknown Het
Tgfbr3 T C 5: 107,297,761 (GRCm39) E213G probably benign Het
Tmed1 T C 9: 21,420,619 (GRCm39) D71G probably benign Het
Tmtc4 T A 14: 123,170,565 (GRCm39) K527N possibly damaging Het
Zfhx2 T C 14: 55,311,822 (GRCm39) T291A probably benign 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
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
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'- GAATGTAAGAATCCTCCTGTCCAG -3'
(R):5'- TTCCCAGAACCCAAAAGTTGAG -3'

Sequencing Primer
(F):5'- TGTCCAGGCCACCATTACGAG -3'
(R):5'- TATTGCAACTATTGGGGGAAACATG -3'
Posted On 2016-11-21