Incidental Mutation 'IGL01014:Or4f58'
ID 53444
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4f58
Ensembl Gene ENSMUSG00000109403
Gene Name olfactory receptor family 4 subfamily F member 58
Synonyms MOR245-21, GA_x6K02T2Q125-73069292-73068354, Olfr1311
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # IGL01014
Quality Score
Status
Chromosome 2
Chromosomal Location 111851259-111852197 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111851477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 241 (S241P)
Ref Sequence ENSEMBL: ENSMUSP00000150617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000208536] [ENSMUST00000213602] [ENSMUST00000215321]
AlphaFold Q8VET0
Predicted Effect probably damaging
Transcript: ENSMUST00000099601
AA Change: S241P

PolyPhen 2 Score 0.990 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097196
Gene: ENSMUSG00000074948
AA Change: S241P

DomainStartEndE-ValueType
Pfam:7tm_4 30 305 1.9e-43 PFAM
Pfam:7tm_1 41 287 3e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000208536
AA Change: S241P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000213602
AA Change: S241P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000215321
AA Change: S241P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216319
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 G A 7: 139,455,576 (GRCm39) M401I probably benign Het
Adgra1 C T 7: 139,455,577 (GRCm39) H402Y probably damaging Het
Akap13 T C 7: 75,400,381 (GRCm39) probably benign Het
Akap9 A G 5: 4,018,683 (GRCm39) E1088G probably benign Het
Aox1 T C 1: 58,361,960 (GRCm39) F722S possibly damaging Het
Arhgef39 G A 4: 43,499,502 (GRCm39) R36C probably damaging Het
Art2a C A 7: 101,204,115 (GRCm39) C141F probably damaging Het
Brwd1 A G 16: 95,817,373 (GRCm39) F1380L probably benign Het
Cadps2 A T 6: 23,496,873 (GRCm39) N102K possibly damaging Het
Ccdc30 C A 4: 119,250,776 (GRCm39) R22L possibly damaging Het
Ccdc74a A T 16: 17,467,661 (GRCm39) T200S possibly damaging Het
Cd200 G A 16: 45,215,063 (GRCm39) T196I probably benign Het
Cd244a A G 1: 171,401,856 (GRCm39) Y194C probably damaging Het
Cdh23 T C 10: 60,143,301 (GRCm39) T3009A probably damaging Het
Clec12b T A 6: 129,362,393 (GRCm39) N21Y probably damaging Het
Cntln A G 4: 84,968,145 (GRCm39) E788G probably benign Het
Col11a1 C T 3: 113,917,458 (GRCm39) probably benign Het
Cttnbp2 T A 6: 18,423,894 (GRCm39) N810I probably damaging Het
Dhx15 A T 5: 52,309,266 (GRCm39) V719D probably damaging Het
Dnah6 A G 6: 73,051,764 (GRCm39) probably benign Het
Dnajc13 A G 9: 104,080,417 (GRCm39) I888T probably damaging Het
Fasn T C 11: 120,708,055 (GRCm39) K666E probably damaging Het
Gnas C T 2: 174,139,767 (GRCm39) probably benign Het
Lmntd2 T C 7: 140,793,952 (GRCm39) Q7R probably damaging Het
Lmo7 G A 14: 102,157,993 (GRCm39) probably benign Het
Lrrc55 A G 2: 85,026,559 (GRCm39) I155T possibly damaging Het
Meis3 C T 7: 15,912,872 (GRCm39) probably benign Het
Mib2 C T 4: 155,742,187 (GRCm39) V334M probably damaging Het
Myo3a A G 2: 22,337,284 (GRCm39) I386V probably benign Het
Neb C A 2: 52,177,170 (GRCm39) M1390I probably benign Het
Nmd3 G A 3: 69,633,719 (GRCm39) V69I probably benign Het
Nsmce3 G T 7: 64,522,382 (GRCm39) D95E possibly damaging Het
Or4c12 T C 2: 89,773,604 (GRCm39) Y285C probably damaging Het
Or5w16 T C 2: 87,577,469 (GRCm39) F310L probably benign Het
Pde4d T C 13: 110,086,036 (GRCm39) V538A probably damaging Het
Pgap6 T A 17: 26,335,983 (GRCm39) probably benign Het
Plxnb1 A T 9: 108,935,102 (GRCm39) H982L probably benign Het
Pold2 G T 11: 5,822,293 (GRCm39) Q459K probably benign Het
Ptpn14 G A 1: 189,554,830 (GRCm39) R130Q probably damaging Het
Rnf10 A T 5: 115,395,042 (GRCm39) L182Q probably damaging Het
Syne2 G A 12: 75,952,051 (GRCm39) D440N probably damaging Het
Tlcd1 G A 11: 78,070,283 (GRCm39) probably null Het
Tpte A T 8: 22,810,898 (GRCm39) Y185F probably benign Het
Other mutations in Or4f58
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02626:Or4f58 APN 2 111,851,458 (GRCm39) missense probably damaging 1.00
R0499:Or4f58 UTSW 2 111,851,777 (GRCm39) missense probably damaging 1.00
R1511:Or4f58 UTSW 2 111,851,749 (GRCm39) missense probably benign 0.00
R3439:Or4f58 UTSW 2 111,851,792 (GRCm39) missense possibly damaging 0.95
R4564:Or4f58 UTSW 2 111,852,112 (GRCm39) missense possibly damaging 0.80
R4756:Or4f58 UTSW 2 111,851,332 (GRCm39) missense possibly damaging 0.52
R4776:Or4f58 UTSW 2 111,851,276 (GRCm39) missense probably benign 0.01
R5777:Or4f58 UTSW 2 111,851,876 (GRCm39) missense probably damaging 1.00
R5936:Or4f58 UTSW 2 111,851,932 (GRCm39) missense probably benign 0.38
R6283:Or4f58 UTSW 2 111,851,605 (GRCm39) missense possibly damaging 0.91
R6368:Or4f58 UTSW 2 111,851,896 (GRCm39) missense probably damaging 0.99
R6484:Or4f58 UTSW 2 111,851,764 (GRCm39) nonsense probably null
R7373:Or4f58 UTSW 2 111,851,787 (GRCm39) missense probably benign
R9223:Or4f58 UTSW 2 111,851,517 (GRCm39) missense possibly damaging 0.78
X0065:Or4f58 UTSW 2 111,851,980 (GRCm39) missense probably benign 0.00
Posted On 2013-06-28