Incidental Mutation 'IGL01160:Or4c117'
ID 53420
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4c117
Ensembl Gene ENSMUSG00000075101
Gene Name olfactory receptor family 4 subfamily C member 117
Synonyms MOR233-14, Olfr1222, GA_x6K02T2Q125-50604368-50603433
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # IGL01160
Quality Score
Status
Chromosome 2
Chromosomal Location 88955138-88956073 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 88956072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000150144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099794] [ENSMUST00000214027] [ENSMUST00000215816]
AlphaFold Q7TR02
Predicted Effect probably null
Transcript: ENSMUST00000099794
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097382
Gene: ENSMUSG00000075101
AA Change: M1K

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.3e-44 PFAM
Pfam:7tm_1 39 286 4.8e-16 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000137595
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120074
Gene: ENSMUSG00000075101
AA Change: M1K

DomainStartEndE-ValueType
Pfam:7tm_1 39 217 1.9e-22 PFAM
Pfam:7tm_4 138 217 1.4e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000214027
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably null
Transcript: ENSMUST00000215816
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp11a A G 8: 12,894,609 (GRCm39) T188A probably damaging Het
Bfsp2 A G 9: 103,357,367 (GRCm39) V20A probably benign Het
Btn1a1 G A 13: 23,645,907 (GRCm39) T154M possibly damaging Het
Ccdc117 T C 11: 5,481,532 (GRCm39) S200G probably benign Het
Col24a1 G A 3: 145,213,468 (GRCm39) G1358S probably damaging Het
Crlf2 T C 5: 109,705,436 (GRCm39) T40A possibly damaging Het
Cstf2 T A X: 132,961,478 (GRCm39) probably benign Het
Dcdc2a A G 13: 25,303,312 (GRCm39) D281G probably benign Het
Dmd T C X: 82,968,567 (GRCm39) L1855P probably damaging Het
Dnajc5g T C 5: 31,267,529 (GRCm39) V112A probably benign Het
Dnmt1 G A 9: 20,828,615 (GRCm39) P828S possibly damaging Het
Dock3 A T 9: 106,783,887 (GRCm39) S268R probably damaging Het
Dpep2 C T 8: 106,713,076 (GRCm39) V440M possibly damaging Het
F8 A T X: 74,331,667 (GRCm39) M741K probably damaging Het
Fermt3 C T 19: 6,980,626 (GRCm39) probably null Het
Fosb A G 7: 19,041,039 (GRCm39) probably null Het
Gm3238 C A 10: 77,606,717 (GRCm39) probably benign Het
Hyal5 T A 6: 24,876,480 (GRCm39) S118T possibly damaging Het
Igf2r T C 17: 12,923,662 (GRCm39) D1140G possibly damaging Het
Ighmbp2 G T 19: 3,326,750 (GRCm39) probably benign Het
Irf3 C A 7: 44,648,220 (GRCm39) D28E possibly damaging Het
Ly6i A T 15: 74,851,881 (GRCm39) I96N possibly damaging Het
Macrod2 T C 2: 140,666,962 (GRCm39) probably benign Het
Or2b4 A G 17: 38,116,941 (GRCm39) R302G probably benign Het
Or4f15 A G 2: 111,814,278 (GRCm39) L47P probably damaging Het
Or52z1 C T 7: 103,436,843 (GRCm39) G214R probably damaging Het
Otof A T 5: 30,538,879 (GRCm39) M1128K probably benign Het
Parp9 A T 16: 35,768,368 (GRCm39) I183F probably damaging Het
Pbsn T C X: 76,886,177 (GRCm39) N147S probably benign Het
Pcf11 A G 7: 92,310,894 (GRCm39) S365P possibly damaging Het
Pcnx4 T G 12: 72,626,151 (GRCm39) V1119G probably damaging Het
Qng1 A G 13: 58,529,790 (GRCm39) V274A probably damaging Het
Rsf1 C T 7: 97,334,791 (GRCm39) T1308M probably damaging Het
Sidt2 A G 9: 45,854,024 (GRCm39) L647P probably damaging Het
Slc28a2b A C 2: 122,355,277 (GRCm39) probably null Het
Slc7a8 A G 14: 54,972,581 (GRCm39) V280A probably benign Het
Spart T A 3: 55,029,177 (GRCm39) F323I probably damaging Het
Supt16 A T 14: 52,420,589 (GRCm39) D70E probably benign Het
Tmc4 T C 7: 3,678,517 (GRCm39) Y38C possibly damaging Het
Tmco5b G T 2: 113,118,143 (GRCm39) probably benign Het
Trav10 G A 14: 53,743,239 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,489,477 (GRCm39) M454K probably damaging Het
Vmn2r85 T C 10: 130,254,690 (GRCm39) T665A probably benign Het
Yipf7 T C 5: 69,676,660 (GRCm39) I160V probably benign Het
Zc3h18 T C 8: 123,134,989 (GRCm39) probably benign Het
Zfp429 G A 13: 67,539,132 (GRCm39) S91L probably damaging Het
Other mutations in Or4c117
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-06-28