Incidental Mutation 'IGL01073:Or4c121'
ID 50421
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: 0.082) question?
Stock # IGL01073
Quality Score
Status
Chromosome 2
Chromosomal Location 89023444-89024376 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89023481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 299 (L299Q)
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: L299Q

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097378
Gene: ENSMUSG00000075097
AA Change: L299Q

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: L299Q

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215562
AA Change: L299Q

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215987
AA Change: L299Q

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216445
AA Change: L299Q

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217601
AA Change: L299Q

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000220416
AA Change: L299Q

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; 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
Ankrd24 A G 10: 81,475,156 (GRCm39) D110G possibly damaging Het
Ccnd3 A G 17: 47,905,770 (GRCm39) T104A probably benign Het
Cntnap5b A T 1: 100,003,755 (GRCm39) D245V probably benign Het
Cryab A G 9: 50,665,855 (GRCm39) K82R probably damaging Het
Dnmt3b G A 2: 153,512,762 (GRCm39) probably benign Het
Eif2b5 A T 16: 20,319,046 (GRCm39) K99* probably null Het
Fam222b A G 11: 78,045,314 (GRCm39) I292V probably damaging Het
Itpr1 A C 6: 108,390,781 (GRCm39) N1560T probably benign Het
Lca5 T A 9: 83,277,528 (GRCm39) K605N probably damaging Het
Letm1 T C 5: 33,906,144 (GRCm39) D424G possibly damaging Het
Mtif3 C A 5: 146,895,790 (GRCm39) R99L probably damaging Het
Nrxn3 A G 12: 89,221,510 (GRCm39) M430V probably benign Het
Pgap2 T A 7: 101,875,661 (GRCm39) probably benign Het
Phf11c A T 14: 59,626,797 (GRCm39) S129T probably benign Het
Ptpro A G 6: 137,354,086 (GRCm39) N154S probably damaging Het
Rfng C T 11: 120,674,747 (GRCm39) R81H probably benign Het
Rnf38 A G 4: 44,137,645 (GRCm39) M280T probably benign Het
Rrp7a G A 15: 83,002,282 (GRCm39) A185V probably benign Het
Slc22a2 C A 17: 12,803,236 (GRCm39) F23L probably benign Het
Slc35f1 A G 10: 52,898,056 (GRCm39) T156A probably benign Het
Slfn1 A T 11: 83,012,163 (GRCm39) Y93F probably benign Het
Snrnp200 A T 2: 127,056,832 (GRCm39) probably benign Het
Sos1 A G 17: 80,730,176 (GRCm39) F701S probably damaging Het
Tmem203 A C 2: 25,145,736 (GRCm39) I19L probably benign Het
Usp8 A T 2: 126,560,034 (GRCm39) K18N probably damaging Het
Vmn2r115 G A 17: 23,564,971 (GRCm39) R286K probably benign Het
Vmn2r23 A C 6: 123,689,759 (GRCm39) T212P possibly damaging Het
Other mutations in Or4c121
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00919:Or4c121 APN 2 89,023,848 (GRCm39) missense probably benign 0.00
IGL01539:Or4c121 APN 2 89,023,836 (GRCm39) missense possibly damaging 0.81
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 2013-06-21