Incidental Mutation 'R4272:Or4c117'
ID 322203
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 041644-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R4272 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 88955138-88956073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88955706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 123 (V123A)
Ref Sequence ENSEMBL: ENSMUSP00000150144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099794] [ENSMUST00000214027] [ENSMUST00000215816]
AlphaFold Q7TR02
Predicted Effect probably damaging
Transcript: ENSMUST00000099794
AA Change: V123A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097382
Gene: ENSMUSG00000075101
AA Change: V123A

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.3e-44 PFAM
Pfam:7tm_1 39 286 4.8e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000137595
AA Change: V123A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120074
Gene: ENSMUSG00000075101
AA Change: V123A

DomainStartEndE-ValueType
Pfam:7tm_1 39 217 1.9e-22 PFAM
Pfam:7tm_4 138 217 1.4e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214027
AA Change: V123A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000215816
AA Change: V123A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.2924 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (52/53)
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
Adgrf2 T A 17: 43,021,013 (GRCm39) T604S probably damaging Het
Ago3 T A 4: 126,248,884 (GRCm39) T556S possibly damaging Het
Arap2 T C 5: 62,828,322 (GRCm39) I950V possibly damaging Het
Arl5b A G 2: 15,077,990 (GRCm39) E105G probably damaging Het
Capza3 A G 6: 139,988,264 (GRCm39) I288V probably benign Het
Chka G A 19: 3,925,737 (GRCm39) probably benign Het
Cnpy4 G T 5: 138,190,853 (GRCm39) V159F probably damaging Het
Crb1 T C 1: 139,251,049 (GRCm39) I301V probably benign Het
Disp1 T A 1: 182,869,208 (GRCm39) I1071F possibly damaging Het
Dlec1 C T 9: 118,972,231 (GRCm39) A1417V probably damaging Het
Dlgap1 T A 17: 71,073,038 (GRCm39) S686T probably benign Het
Dync1li2 A G 8: 105,149,775 (GRCm39) S411P probably damaging Het
Efnb2 T A 8: 8,670,698 (GRCm39) S301C probably damaging Het
Enpp4 T C 17: 44,412,698 (GRCm39) N279D probably benign Het
Exoc3 A G 13: 74,340,763 (GRCm39) V347A probably damaging Het
Ezh1 A G 11: 101,085,734 (GRCm39) F641S probably damaging Het
Gcgr T A 11: 120,429,250 (GRCm39) probably benign Het
Gm4887 G T 7: 104,470,535 (GRCm39) noncoding transcript Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Htt G A 5: 35,006,413 (GRCm39) V1441I possibly damaging Het
Ift70a1 A G 2: 75,810,818 (GRCm39) Y422H probably damaging Het
Lmtk2 A G 5: 144,120,044 (GRCm39) M1398V probably benign Het
Lrrc15 T C 16: 30,092,673 (GRCm39) N222S probably benign Het
Mctp2 A T 7: 71,909,079 (GRCm39) V78E possibly damaging Het
Medag A G 5: 149,345,628 (GRCm39) Y103C probably damaging Het
Mphosph9 G A 5: 124,442,266 (GRCm39) P361S probably damaging Het
Npffr2 G A 5: 89,715,882 (GRCm39) V70M probably damaging Het
Obox3-ps8 A C 17: 36,763,909 (GRCm39) noncoding transcript Het
Pdgfra G A 5: 75,343,731 (GRCm39) V751I probably benign Het
Phykpl T C 11: 51,476,355 (GRCm39) L25P probably damaging Het
Rgl1 A T 1: 152,412,040 (GRCm39) I443N probably benign Het
Riok3 AGAAGCGG AG 18: 12,268,998 (GRCm39) probably benign Het
Rragd T C 4: 32,996,099 (GRCm39) probably null Het
Rtcb A T 10: 85,793,483 (GRCm39) M30K probably damaging Het
Rusc2 T A 4: 43,415,533 (GRCm39) C280S probably damaging Het
Sall2 C A 14: 52,551,260 (GRCm39) R643L probably damaging Het
Skp2 C A 15: 9,116,947 (GRCm39) probably null Het
Slc52a3 T A 2: 151,847,660 (GRCm39) I256N possibly damaging Het
Sycp2 A T 2: 178,000,017 (GRCm39) D986E probably benign Het
Tas1r1 T C 4: 152,116,614 (GRCm39) E340G possibly damaging Het
Tnpo1 GCACCTCTGCTTCCTC GCACCTCTGCTTCCTCACCTCTGCTTCCTC 13: 99,003,637 (GRCm39) probably null Het
Trhr G A 15: 44,060,620 (GRCm39) V47I probably damaging Het
Trpm2 A T 10: 77,769,476 (GRCm39) N749K probably damaging Het
Ttc27 T A 17: 75,147,355 (GRCm39) W636R probably damaging Het
Ttn C A 2: 76,608,691 (GRCm39) R17775L probably damaging Het
Vmn2r55 A G 7: 12,402,106 (GRCm39) F394S probably benign Het
Zfp52 C A 17: 21,780,459 (GRCm39) Y102* probably null Het
Zyx A G 6: 42,327,880 (GRCm39) D70G probably damaging 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
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
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'- CAAGCTGCAGTAATGGGAAC -3'
(R):5'- TATAGCCCTGCACTGTTGAGTTC -3'

Sequencing Primer
(F):5'- GGGAACAAGTCACATATGAAATGATC -3'
(R):5'- GCACTGTTGAGTTCCCCCATG -3'
Posted On 2015-06-20