Incidental Mutation 'IGL01990:Igfbp3'
ID 182040
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igfbp3
Ensembl Gene ENSMUSG00000020427
Gene Name insulin-like growth factor binding protein 3
Synonyms IGFBP-3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01990
Quality Score
Status
Chromosome 11
Chromosomal Location 7156086-7163923 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 7158504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 253 (R253L)
Ref Sequence ENSEMBL: ENSMUSP00000131670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020702] [ENSMUST00000135887]
AlphaFold P47878
Predicted Effect probably damaging
Transcript: ENSMUST00000020702
AA Change: R253L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020702
Gene: ENSMUSG00000020427
AA Change: R253L

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
IB 38 118 1.05e-31 SMART
TY 238 290 2.22e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000135887
AA Change: R253L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131670
Gene: ENSMUSG00000020427
AA Change: R253L

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
IB 38 118 1.05e-31 SMART
TY 238 290 2.22e-20 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit normal body weight. Mice homozygous for another knock-out allele exhibit increased body weight, and show altered hepatic carbohydrate and lipid metabolism when fed a high-fat diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 A G 17: 33,653,068 (GRCm39) N376S probably benign Het
Adgrv1 T C 13: 81,705,115 (GRCm39) D1565G probably damaging Het
Atf5 T G 7: 44,462,473 (GRCm39) D217A probably damaging Het
Azgp1 T C 5: 137,987,997 (GRCm39) W260R probably damaging Het
Cnr2 C T 4: 135,644,116 (GRCm39) R65C probably damaging Het
Col14a1 A G 15: 55,226,859 (GRCm39) Y203C unknown Het
Colec11 A G 12: 28,644,985 (GRCm39) Y170H probably benign Het
Exosc10 A G 4: 148,650,867 (GRCm39) Q471R possibly damaging Het
Gal3st1 G T 11: 3,948,741 (GRCm39) W316L probably damaging Het
Kcnb2 A T 1: 15,383,178 (GRCm39) D168V probably benign Het
Khnyn T G 14: 56,125,045 (GRCm39) I433S possibly damaging Het
Naaa T A 5: 92,415,922 (GRCm39) T193S possibly damaging Het
Nsun7 G A 5: 66,418,416 (GRCm39) D49N probably damaging Het
Pappa T C 4: 65,074,924 (GRCm39) probably benign Het
Pfkfb2 A G 1: 130,633,107 (GRCm39) probably benign Het
Pkd1l3 C T 8: 110,387,438 (GRCm39) T1794I probably damaging Het
Prex2 A C 1: 11,193,457 (GRCm39) probably benign Het
Slc2a7 T G 4: 150,239,141 (GRCm39) I122S possibly damaging Het
Slc31a2 A G 4: 62,214,207 (GRCm39) K53E probably benign Het
Slc35f4 C T 14: 49,541,626 (GRCm39) probably null Het
Slc38a7 C T 8: 96,571,590 (GRCm39) W213* probably null Het
Slc5a4b T C 10: 75,896,188 (GRCm39) E589G probably benign Het
Syne2 A G 12: 76,101,707 (GRCm39) N5407S probably damaging Het
Tgm2 A T 2: 157,966,051 (GRCm39) D534E probably benign Het
Ugt1a7c A G 1: 88,023,324 (GRCm39) Y161C probably damaging Het
Vmn2r114 A G 17: 23,529,355 (GRCm39) M249T probably benign Het
Xkr9 A G 1: 13,771,203 (GRCm39) I240V probably benign Het
Zfat A G 15: 68,096,666 (GRCm39) L49P probably damaging Het
Zfhx2 G T 14: 55,311,047 (GRCm39) P549H probably damaging Het
Zfp551 C T 7: 12,156,343 (GRCm39) V25M possibly damaging Het
Other mutations in Igfbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Igfbp3 APN 11 7,158,478 (GRCm39) missense possibly damaging 0.69
R1756:Igfbp3 UTSW 11 7,158,461 (GRCm39) missense probably damaging 1.00
R5936:Igfbp3 UTSW 11 7,159,472 (GRCm39) missense probably damaging 1.00
R8098:Igfbp3 UTSW 11 7,160,104 (GRCm39) missense possibly damaging 0.68
R8233:Igfbp3 UTSW 11 7,160,152 (GRCm39) missense probably benign 0.18
R8467:Igfbp3 UTSW 11 7,163,523 (GRCm39) missense probably damaging 1.00
R8863:Igfbp3 UTSW 11 7,163,568 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07