Incidental Mutation 'IGL01539:Or4c121'
ID 90090
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4c121
Ensembl Gene ENSMUSG00000075097
Gene Name olfactory receptor family 4 subfamily C member 121
Synonyms MOR233-2, Olfr1226, GA_x6K02T2Q125-50672630-50671698
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL01539
Quality Score
Status
Chromosome 2
Chromosomal Location 89023444-89024376 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89023836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 181 (F181L)
Ref Sequence ENSEMBL: ENSMUSP00000151855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099790] [ENSMUST00000214709] [ENSMUST00000215562] [ENSMUST00000215987] [ENSMUST00000216445] [ENSMUST00000217601] [ENSMUST00000220416]
AlphaFold Q8VGM5
Predicted Effect possibly damaging
Transcript: ENSMUST00000099790
AA Change: F181L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097378
Gene: ENSMUSG00000075097
AA Change: F181L

DomainStartEndE-ValueType
Pfam:7tm_4 29 302 6.5e-47 PFAM
Pfam:7tm_1 39 285 3.4e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214709
AA Change: F181L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215562
AA Change: F181L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215987
AA Change: F181L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216445
AA Change: F181L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217601
AA Change: F181L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000220416
AA Change: F181L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clca4b T A 3: 144,631,918 (GRCm39) M196L probably benign Het
Cyp4a14 T C 4: 115,344,374 (GRCm39) N497S possibly damaging Het
Eif3b T C 5: 140,416,008 (GRCm39) probably benign Het
Grin2c T C 11: 115,140,932 (GRCm39) Q1062R probably benign Het
Ina A G 19: 47,003,903 (GRCm39) E237G probably damaging Het
Lmx1b T C 2: 33,529,510 (GRCm39) D83G possibly damaging Het
Macf1 A G 4: 123,289,701 (GRCm39) probably benign Het
Muc6 T A 7: 141,236,306 (GRCm39) M406L probably benign Het
Myo15b T C 11: 115,754,299 (GRCm39) I933T probably benign Het
Or6c204 T C 10: 129,022,804 (GRCm39) N162S probably benign Het
Pde1b A T 15: 103,433,772 (GRCm39) probably benign Het
Rab29 G A 1: 131,798,445 (GRCm39) R75Q probably damaging Het
Scn10a A T 9: 119,467,764 (GRCm39) I792N probably damaging Het
Serpinb6a A T 13: 34,114,117 (GRCm39) V70D probably damaging Het
Slco1a7 A G 6: 141,673,333 (GRCm39) S402P possibly damaging Het
Spart A G 3: 55,024,723 (GRCm39) D106G possibly damaging Het
Sucla2 A G 14: 73,828,561 (GRCm39) E359G probably damaging Het
Sycp2 T C 2: 178,016,488 (GRCm39) Y658C probably damaging Het
Tenm2 T A 11: 35,997,654 (GRCm39) T811S possibly damaging Het
Trim66 C A 7: 109,054,273 (GRCm39) M1312I probably benign Het
Tspan18 A G 2: 93,041,198 (GRCm39) S135P probably damaging Het
Ube2j1 T C 4: 33,043,993 (GRCm39) probably benign Het
Ubr1 A C 2: 120,756,494 (GRCm39) V711G possibly damaging Het
Veph1 T C 3: 66,065,496 (GRCm39) T524A probably benign Het
Vmn1r222 A T 13: 23,417,059 (GRCm39) F51L probably benign Het
Vwf G T 6: 125,567,225 (GRCm39) V338L possibly damaging Het
Zfp770 G T 2: 114,027,574 (GRCm39) A165E probably damaging Het
Other mutations in Or4c121
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00919:Or4c121 APN 2 89,023,848 (GRCm39) missense probably benign 0.00
IGL01073:Or4c121 APN 2 89,023,481 (GRCm39) missense possibly damaging 0.78
IGL01549:Or4c121 APN 2 89,024,133 (GRCm39) missense probably benign 0.01
IGL02040:Or4c121 APN 2 89,023,907 (GRCm39) missense probably benign 0.16
IGL02174:Or4c121 APN 2 89,023,712 (GRCm39) missense probably benign 0.01
IGL02322:Or4c121 APN 2 89,023,806 (GRCm39) missense probably damaging 0.99
IGL02881:Or4c121 APN 2 89,023,985 (GRCm39) missense probably damaging 1.00
IGL03336:Or4c121 APN 2 89,024,241 (GRCm39) missense probably benign 0.16
R1565:Or4c121 UTSW 2 89,024,227 (GRCm39) missense probably damaging 0.99
R3429:Or4c121 UTSW 2 89,023,617 (GRCm39) missense probably benign 0.04
R5668:Or4c121 UTSW 2 89,024,170 (GRCm39) missense possibly damaging 0.60
R6404:Or4c121 UTSW 2 89,023,906 (GRCm39) missense probably damaging 1.00
R6418:Or4c121 UTSW 2 89,023,823 (GRCm39) missense probably damaging 0.97
R7039:Or4c121 UTSW 2 89,023,790 (GRCm39) missense probably damaging 0.96
R7863:Or4c121 UTSW 2 89,024,295 (GRCm39) missense probably benign
R8097:Or4c121 UTSW 2 89,023,976 (GRCm39) missense probably damaging 1.00
R8544:Or4c121 UTSW 2 89,024,312 (GRCm39) missense possibly damaging 0.68
R8792:Or4c121 UTSW 2 89,024,231 (GRCm39) missense probably benign 0.00
R9291:Or4c121 UTSW 2 89,024,138 (GRCm39) missense possibly damaging 0.95
Posted On 2013-12-03