Incidental Mutation 'IGL03230:Or4c58'
ID 413858
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4c58
Ensembl Gene ENSMUSG00000075072
Gene Name olfactory receptor family 4 subfamily C member 58
Synonyms Olfr48, IC3, GA_x6K02T2Q125-51285881-51284976, MOR232-5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL03230
Quality Score
Status
Chromosome 2
Chromosomal Location 89674410-89675315 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89674457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 287 (T287A)
Ref Sequence ENSEMBL: ENSMUSP00000150505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099762] [ENSMUST00000111520] [ENSMUST00000213833] [ENSMUST00000214428] [ENSMUST00000215613]
AlphaFold Q8VGN4
Predicted Effect probably benign
Transcript: ENSMUST00000099762
AA Change: T287A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097350
Gene: ENSMUSG00000075072
AA Change: T287A

DomainStartEndE-ValueType
Pfam:7tm_4 26 299 1e-47 PFAM
Pfam:7tm_1 36 282 8.5e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111520
SMART Domains Protein: ENSMUSP00000107145
Gene: ENSMUSG00000075073

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.5e-47 PFAM
Pfam:7TM_GPCR_Srsx 33 300 1.1e-5 PFAM
Pfam:7tm_1 39 285 1.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213833
Predicted Effect probably benign
Transcript: ENSMUST00000214428
AA Change: T287A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216674
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C A 11: 9,244,313 (GRCm39) Q2059K probably benign Het
Abcc1 A T 16: 14,275,811 (GRCm39) T902S probably benign Het
Acly A T 11: 100,384,885 (GRCm39) C623S probably damaging Het
Ak8 A G 2: 28,599,935 (GRCm39) probably benign Het
Birc6 A G 17: 74,918,065 (GRCm39) D1811G probably damaging Het
Bms1 T A 6: 118,395,522 (GRCm39) K8N possibly damaging Het
Cdc25b T C 2: 131,030,060 (GRCm39) F79L probably benign Het
Cdh13 T A 8: 119,969,056 (GRCm39) V471D probably damaging Het
Cnot4 T C 6: 35,028,344 (GRCm39) D424G probably damaging Het
Cyp2a12 A T 7: 26,729,017 (GRCm39) I70F possibly damaging Het
Cyp2c66 A T 19: 39,172,302 (GRCm39) R406W possibly damaging Het
Cyp2g1 C A 7: 26,518,828 (GRCm39) P408Q probably damaging Het
Defa26 A G 8: 22,108,314 (GRCm39) D39G probably damaging Het
Dnah1 A T 14: 30,992,023 (GRCm39) S3020T probably damaging Het
Dst A T 1: 34,223,133 (GRCm39) K1119* probably null Het
Gm10110 A C 14: 90,135,733 (GRCm39) noncoding transcript Het
Grk2 C T 19: 4,337,857 (GRCm39) E508K probably benign Het
Hpx A T 7: 105,248,519 (GRCm39) I94N probably benign Het
Il23r C T 6: 67,400,948 (GRCm39) A461T probably benign Het
Iqca1 A G 1: 90,072,724 (GRCm39) I52T probably damaging Het
Kif21b T A 1: 136,090,550 (GRCm39) M1146K probably benign Het
Kifap3 C A 1: 163,653,293 (GRCm39) T293K probably benign Het
Luzp1 G A 4: 136,270,189 (GRCm39) S804N probably benign Het
Mcmdc2 C T 1: 10,002,221 (GRCm39) probably benign Het
Mctp1 G T 13: 76,972,976 (GRCm39) A403S possibly damaging Het
Mtnr1a T C 8: 45,540,435 (GRCm39) I132T probably damaging Het
Musk T A 4: 58,296,710 (GRCm39) N103K probably damaging Het
Nipal2 T A 15: 34,575,702 (GRCm39) D352V probably damaging Het
Oas1a T A 5: 121,036,419 (GRCm39) K336I probably benign Het
Oasl1 T C 5: 115,075,115 (GRCm39) S392P probably damaging Het
Or2ag17 A G 7: 106,389,911 (GRCm39) L99P probably damaging Het
Or3a1c A G 11: 74,046,099 (GRCm39) T40A probably benign Het
Or4c117 A G 2: 88,955,892 (GRCm39) F61S probably damaging Het
Or4c120 A T 2: 89,001,433 (GRCm39) M41K possibly damaging Het
Or5m8 A T 2: 85,822,583 (GRCm39) T141S probably benign Het
Pate3 T G 9: 35,557,402 (GRCm39) T85P probably benign Het
Piezo2 T C 18: 63,174,791 (GRCm39) N1988D probably damaging Het
Plcxd3 T A 15: 4,546,272 (GRCm39) I92N probably damaging Het
Ptprd T A 4: 75,968,654 (GRCm39) R213* probably null Het
Skic3 T A 13: 76,303,766 (GRCm39) probably benign Het
Slit1 T C 19: 41,717,524 (GRCm39) D80G probably damaging Het
Sorcs1 A G 19: 50,230,531 (GRCm39) V472A probably damaging Het
Trp63 T A 16: 25,707,760 (GRCm39) D485E probably damaging Het
Tsr1 T C 11: 74,791,297 (GRCm39) V292A probably benign Het
Ush2a G T 1: 188,198,390 (GRCm39) A1485S probably benign Het
Vmn1r49 T A 6: 90,049,650 (GRCm39) R117S probably damaging Het
Vmn2r97 C A 17: 19,149,668 (GRCm39) P352H probably benign Het
Zxdc C T 6: 90,350,785 (GRCm39) T412I probably damaging Het
Other mutations in Or4c58
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01661:Or4c58 APN 2 89,674,439 (GRCm39) missense probably benign 0.00
IGL02184:Or4c58 APN 2 89,674,729 (GRCm39) missense probably damaging 0.98
IGL02408:Or4c58 APN 2 89,675,315 (GRCm39) start codon destroyed probably benign 0.04
IGL02437:Or4c58 APN 2 89,675,128 (GRCm39) missense probably damaging 0.98
IGL02985:Or4c58 APN 2 89,674,684 (GRCm39) missense possibly damaging 0.66
IGL03393:Or4c58 APN 2 89,674,913 (GRCm39) missense probably benign 0.00
R0482:Or4c58 UTSW 2 89,674,513 (GRCm39) missense probably benign 0.20
R0555:Or4c58 UTSW 2 89,674,787 (GRCm39) missense probably benign 0.00
R1268:Or4c58 UTSW 2 89,674,498 (GRCm39) missense probably damaging 0.98
R1617:Or4c58 UTSW 2 89,674,598 (GRCm39) missense probably benign 0.03
R3552:Or4c58 UTSW 2 89,674,687 (GRCm39) missense possibly damaging 0.53
R4172:Or4c58 UTSW 2 89,675,122 (GRCm39) missense probably damaging 1.00
R4173:Or4c58 UTSW 2 89,675,122 (GRCm39) missense probably damaging 1.00
R4174:Or4c58 UTSW 2 89,675,122 (GRCm39) missense probably damaging 1.00
R5540:Or4c58 UTSW 2 89,675,011 (GRCm39) missense probably damaging 1.00
R5909:Or4c58 UTSW 2 89,674,735 (GRCm39) missense possibly damaging 0.89
R5941:Or4c58 UTSW 2 89,674,859 (GRCm39) missense probably benign 0.07
R7425:Or4c58 UTSW 2 89,674,789 (GRCm39) missense probably damaging 0.99
R7445:Or4c58 UTSW 2 89,674,616 (GRCm39) missense probably damaging 0.99
R7660:Or4c58 UTSW 2 89,674,787 (GRCm39) missense probably benign 0.00
R7978:Or4c58 UTSW 2 89,674,611 (GRCm39) nonsense probably null
R7996:Or4c58 UTSW 2 89,674,759 (GRCm39) missense probably benign 0.28
R8026:Or4c58 UTSW 2 89,675,273 (GRCm39) missense probably benign 0.06
R9184:Or4c58 UTSW 2 89,675,294 (GRCm39) missense probably benign 0.06
R9420:Or4c58 UTSW 2 89,674,715 (GRCm39) missense probably benign 0.14
Posted On 2016-08-02