Incidental Mutation 'R7996:Or4c58'
ID 616068
Institutional Source Beutler Lab
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
MMRRC Submission 046036-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R7996 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 89674410-89675315 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89674759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 186 (D186G)
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: D186G

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097350
Gene: ENSMUSG00000075072
AA Change: D186G

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: D186G

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000215613
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,977,490 (GRCm39) N394K probably damaging Het
Amotl1 T C 9: 14,505,001 (GRCm39) D69G possibly damaging Het
Arid5a G T 1: 36,356,526 (GRCm39) C121F unknown Het
Ccne2 C A 4: 11,201,347 (GRCm39) Q292K probably benign Het
Cfap70 A G 14: 20,459,194 (GRCm39) I723T probably benign Het
Chrnd A G 1: 87,118,828 (GRCm39) T62A probably damaging Het
Cobll1 T A 2: 64,981,329 (GRCm39) H87L possibly damaging Het
Derl1 T G 15: 57,741,970 (GRCm39) M122L probably benign Het
Dnah5 T A 15: 28,409,323 (GRCm39) N3580K probably damaging Het
Efcab12 T C 6: 115,800,378 (GRCm39) Q215R probably benign Het
Eif3m T C 2: 104,831,694 (GRCm39) N289D probably benign Het
Elapor2 A C 5: 9,512,881 (GRCm39) K958N probably damaging Het
Emsy T A 7: 98,242,888 (GRCm39) I1084L probably benign Het
Garin3 T C 11: 46,295,889 (GRCm39) V87A Het
Garre1 G T 7: 33,963,024 (GRCm39) T216K possibly damaging Het
Gm3336 A T 8: 71,173,146 (GRCm39) T53S unknown Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Hr G A 14: 70,801,043 (GRCm39) W676* probably null Het
Katnb1 A T 8: 95,824,643 (GRCm39) I546F possibly damaging Het
Memo1 A T 17: 74,565,491 (GRCm39) L24Q probably damaging Het
Mmel1 C G 4: 154,976,912 (GRCm39) Q529E probably benign Het
Naip5 A G 13: 100,358,164 (GRCm39) F1024S probably damaging Het
Or7c70 A T 10: 78,683,155 (GRCm39) V198E probably damaging Het
Paics A G 5: 77,107,276 (GRCm39) K110R probably benign Het
Pate13 G A 9: 35,820,650 (GRCm39) R34H probably damaging Het
Pcdhgc4 C T 18: 37,950,459 (GRCm39) S625F probably damaging Het
Pnpla8 T A 12: 44,329,766 (GRCm39) L106* probably null Het
Rabggtb T C 3: 153,617,605 (GRCm39) H31R probably damaging Het
Rhot1 G A 11: 80,148,363 (GRCm39) C601Y probably damaging Het
Rps27 A G 3: 90,120,309 (GRCm39) V53A probably benign Het
Sdr39u1 C A 14: 56,135,344 (GRCm39) G200* probably null Het
Sesn1 T A 10: 41,770,929 (GRCm39) Y153* probably null Het
Slc25a40 A G 5: 8,493,653 (GRCm39) T168A probably damaging Het
Smoc2 C T 17: 14,595,730 (GRCm39) R286* probably null Het
Smtnl2 T A 11: 72,291,200 (GRCm39) K349N probably damaging Het
Snx16 G T 3: 10,500,509 (GRCm39) D153E probably benign Het
Spata31e5 C T 1: 28,817,487 (GRCm39) E182K probably damaging Het
Ssu72 A C 4: 155,816,450 (GRCm39) N144T probably benign Het
Stk40 C A 4: 126,030,667 (GRCm39) L296I probably damaging Het
Sult3a2 T C 10: 33,644,254 (GRCm39) M225V probably damaging Het
Syne2 T C 12: 76,051,441 (GRCm39) L4057P probably damaging Het
Tbx2 A G 11: 85,725,616 (GRCm39) H189R probably damaging Het
Tead1 T C 7: 112,441,311 (GRCm39) probably null Het
Tgs1 T C 4: 3,605,842 (GRCm39) S786P probably damaging Het
Tmco4 T C 4: 138,748,172 (GRCm39) Y251H probably damaging Het
Trim14 A T 4: 46,533,086 (GRCm39) C76S probably benign Het
Tubgcp6 T A 15: 88,993,231 (GRCm39) Q506L possibly damaging Het
Vmn2r50 A T 7: 9,781,795 (GRCm39) F317I probably damaging Het
Vwa5a T A 9: 38,639,124 (GRCm39) Y335* probably null Het
Zgrf1 C T 3: 127,389,573 (GRCm39) T1257I possibly damaging Het
Zpr1 A G 9: 46,184,863 (GRCm39) N87D possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- TGACCACAGTAATGTGAGAGAC -3'
(R):5'- CTTCTCACAGTGATGGCCTAC -3'

Sequencing Primer
(F):5'- CACAGGTGGAGAGGGCTTTG -3'
(R):5'- ATGTGGCCATCTGTAAACCG -3'
Posted On 2020-01-23