Incidental Mutation 'IGL02184:Or4c58'
ID 284271
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: 0.068) question?
Stock # IGL02184
Quality Score
Status
Chromosome 2
Chromosomal Location 89674410-89675315 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 89674729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 196 (A196V)
Ref Sequence ENSEMBL: ENSMUSP00000150505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099762] [ENSMUST00000111520] [ENSMUST00000213833] [ENSMUST00000214428] [ENSMUST00000215613]
AlphaFold Q8VGN4
Predicted Effect probably damaging
Transcript: ENSMUST00000099762
AA Change: A196V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097350
Gene: ENSMUSG00000075072
AA Change: A196V

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 damaging
Transcript: ENSMUST00000214428
AA Change: A196V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 C T 3: 89,253,241 (GRCm39) probably benign Het
Antxr2 A C 5: 98,125,454 (GRCm39) probably null Het
Aopep T G 13: 63,215,925 (GRCm39) I399S possibly damaging Het
Atp8b3 A C 10: 80,363,067 (GRCm39) probably benign Het
Brwd1 A T 16: 95,815,029 (GRCm39) M1417K probably damaging Het
Camk2d A T 3: 126,591,422 (GRCm39) R297S probably damaging Het
Cntnap1 A T 11: 101,069,191 (GRCm39) H215L probably damaging Het
Cytip T C 2: 58,023,750 (GRCm39) S357G probably damaging Het
Eif1ad15 T C 12: 88,287,951 (GRCm39) R101G probably benign Het
Fancg A G 4: 43,006,872 (GRCm39) Y273H possibly damaging Het
Fbxo36 A G 1: 84,858,885 (GRCm39) S57G probably benign Het
Fgf8 A T 19: 45,725,655 (GRCm39) L141Q probably damaging Het
Grm5 C T 7: 87,675,650 (GRCm39) T388M probably damaging Het
Hipk1 A G 3: 103,666,066 (GRCm39) L589P possibly damaging Het
Kiz T C 2: 146,731,520 (GRCm39) S337P probably benign Het
Lrrc37a A T 11: 103,388,435 (GRCm39) I2330K unknown Het
Mdfic T A 6: 15,770,366 (GRCm39) I124K possibly damaging Het
Mdfic2 T C 6: 98,225,059 (GRCm39) S75G possibly damaging Het
Mttp A G 3: 137,821,761 (GRCm39) probably null Het
Myom1 G A 17: 71,379,132 (GRCm39) S632N possibly damaging Het
Nlrp12 T C 7: 3,289,094 (GRCm39) K473E probably damaging Het
Nrp2 C A 1: 62,758,099 (GRCm39) C28* probably null Het
Nwd2 G T 5: 63,963,020 (GRCm39) G868V probably damaging Het
Or4a73 G A 2: 89,420,637 (GRCm39) T274I probably damaging Het
Or5w1 A G 2: 87,487,136 (GRCm39) L43P probably damaging Het
Pappa A T 4: 65,258,928 (GRCm39) M1559L possibly damaging Het
Pmm2 T A 16: 8,455,668 (GRCm39) D10E possibly damaging Het
Polm T C 11: 5,780,137 (GRCm39) Q300R probably benign Het
Prrc2b T A 2: 32,111,467 (GRCm39) N1208K probably benign Het
Serpinb3c T C 1: 107,199,648 (GRCm39) D291G probably damaging Het
Skic3 A G 13: 76,259,810 (GRCm39) K37E probably damaging Het
Slc1a2 T C 2: 102,578,889 (GRCm39) F268S probably damaging Het
Slc26a4 A G 12: 31,599,948 (GRCm39) Y127H probably damaging Het
Slc29a4 A G 5: 142,703,506 (GRCm39) Y260C probably damaging Het
Sorbs3 C T 14: 70,421,455 (GRCm39) probably null Het
Spen T C 4: 141,214,917 (GRCm39) Y534C unknown Het
Tmem237 T C 1: 59,159,270 (GRCm39) probably null Het
Tnfrsf21 A T 17: 43,396,354 (GRCm39) N546I probably benign Het
Tpgs2 T A 18: 25,273,630 (GRCm39) D177V probably damaging Het
Tpx2 C T 2: 152,724,240 (GRCm39) R339* probably null Het
Trim12c T C 7: 103,997,430 (GRCm39) Y42C probably benign Het
Trip10 A T 17: 57,564,272 (GRCm39) E341V probably damaging Het
Trpm8 A T 1: 88,258,416 (GRCm39) probably null Het
Ubr1 T A 2: 120,730,989 (GRCm39) I1221F probably benign Het
Ucp2 C T 7: 100,148,529 (GRCm39) A301V probably benign Het
Zfyve1 T C 12: 83,605,467 (GRCm39) I411V probably benign Het
Other mutations in Or4c58
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01661:Or4c58 APN 2 89,674,439 (GRCm39) missense probably benign 0.00
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
IGL03230:Or4c58 APN 2 89,674,457 (GRCm39) missense probably benign
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 2015-04-16