Incidental Mutation 'IGL01549:Or4c121'
ID 90539
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 # IGL01549
Quality Score
Status
Chromosome 2
Chromosomal Location 89023444-89024376 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 89024133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 82 (V82I)
Ref Sequence ENSEMBL: ENSMUSP00000151855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099790] [ENSMUST00000214709] [ENSMUST00000215562] [ENSMUST00000215987] [ENSMUST00000216445] [ENSMUST00000217601] [ENSMUST00000220416]
AlphaFold Q8VGM5
Predicted Effect probably benign
Transcript: ENSMUST00000099790
AA Change: V82I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000097378
Gene: ENSMUSG00000075097
AA Change: V82I

DomainStartEndE-ValueType
Pfam:7tm_4 29 302 6.5e-47 PFAM
Pfam:7tm_1 39 285 3.4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214709
AA Change: V82I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000215562
AA Change: V82I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000215987
AA Change: V82I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000216445
AA Change: V82I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000217601
AA Change: V82I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000220416
AA Change: V82I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
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
4930503L19Rik C T 18: 70,601,106 (GRCm39) V259I possibly damaging Het
Abhd4 C T 14: 54,504,589 (GRCm39) T273I probably damaging Het
Adamtsl3 T C 7: 82,261,656 (GRCm39) S1691P probably damaging Het
Anapc1 A G 2: 128,495,090 (GRCm39) S901P probably benign Het
Ank3 C T 10: 69,768,250 (GRCm39) S56F probably damaging Het
Ccdc74a A G 16: 17,468,406 (GRCm39) S343G probably benign Het
Clec7a A T 6: 129,449,640 (GRCm39) Y3* probably null Het
Il6 A G 5: 30,224,469 (GRCm39) T170A probably benign Het
Itgax C A 7: 127,730,378 (GRCm39) probably null Het
Lrrc17 A T 5: 21,775,288 (GRCm39) R283S probably benign Het
Muc1 C T 3: 89,139,117 (GRCm39) P533S probably damaging Het
Or10j5 T C 1: 172,784,541 (GRCm39) Y60H probably damaging Het
Or13n4 T C 7: 106,423,236 (GRCm39) I166V probably benign Het
Or4d10c T A 19: 12,065,329 (GRCm39) I276F probably benign Het
Or8k37 A C 2: 86,469,705 (GRCm39) S116A probably benign Het
Or8k37 T C 2: 86,469,876 (GRCm39) M59V possibly damaging Het
Pcnt A C 10: 76,203,320 (GRCm39) probably null Het
Pde4b A T 4: 102,462,265 (GRCm39) D647V probably damaging Het
Phldb2 T C 16: 45,594,681 (GRCm39) M875V probably benign Het
Prkar2b T C 12: 32,111,071 (GRCm39) E4G possibly damaging Het
Rab2a C A 4: 8,582,393 (GRCm39) S125Y probably benign Het
Samm50 A G 15: 84,086,982 (GRCm39) I264V probably benign Het
Sgsh C T 11: 119,241,755 (GRCm39) A90T probably damaging Het
Tap2 A G 17: 34,433,303 (GRCm39) T489A probably benign Het
Wdr38 T G 2: 38,890,730 (GRCm39) S201R probably damaging Het
Zfhx4 A G 3: 5,464,522 (GRCm39) D1560G probably damaging Het
Zfp462 A G 4: 55,013,181 (GRCm39) T568A 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
IGL01539:Or4c121 APN 2 89,023,836 (GRCm39) missense possibly damaging 0.81
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 2013-12-09