Incidental Mutation 'R8233:Igfbp3'
ID 637230
Institutional Source Beutler Lab
Gene Symbol Igfbp3
Ensembl Gene ENSMUSG00000020427
Gene Name insulin-like growth factor binding protein 3
Synonyms IGFBP-3
MMRRC Submission 067665-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8233 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 7156086-7163923 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7160152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 167 (H167L)
Ref Sequence ENSEMBL: ENSMUSP00000020702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020702] [ENSMUST00000135887]
AlphaFold P47878
Predicted Effect probably benign
Transcript: ENSMUST00000020702
AA Change: H167L

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000020702
Gene: ENSMUSG00000020427
AA Change: H167L

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 benign
Transcript: ENSMUST00000135887
AA Change: H167L

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000131670
Gene: ENSMUSG00000020427
AA Change: H167L

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
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.8%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik A T 18: 70,602,687 (GRCm39) V42E probably benign Het
Abca12 T C 1: 71,390,916 (GRCm39) E153G probably benign Het
Adamts20 A C 15: 94,189,533 (GRCm39) I1440S probably benign Het
Aspm T A 1: 139,385,042 (GRCm39) S229T probably benign Het
Atp2b2 A T 6: 113,742,680 (GRCm39) probably null Het
Cd101 G T 3: 100,900,989 (GRCm39) H1032N unknown Het
Col6a2 A G 10: 76,444,540 (GRCm39) probably null Het
Crot A T 5: 9,026,027 (GRCm39) I320K possibly damaging Het
D5Ertd579e A T 5: 36,772,588 (GRCm39) D602E probably damaging Het
Degs1 A G 1: 182,107,160 (GRCm39) V69A probably benign Het
Dgkz A G 2: 91,769,994 (GRCm39) S557P probably damaging Het
Fat1 T A 8: 45,405,055 (GRCm39) L602Q Het
Gli2 A T 1: 118,772,167 (GRCm39) Y513N probably damaging Het
H2-Q10 A G 17: 35,781,983 (GRCm39) T202A probably benign Het
Hnrnpa3 A G 2: 75,492,860 (GRCm39) N195D probably benign Het
Ifna1 C T 4: 88,768,628 (GRCm39) T102I possibly damaging Het
Igfn1 T C 1: 135,895,782 (GRCm39) T1595A probably benign Het
Krt14 A G 11: 100,094,178 (GRCm39) V472A probably damaging Het
Lrrc74b T A 16: 17,376,089 (GRCm39) H187L probably benign Het
Magoh T G 4: 107,738,132 (GRCm39) V44G possibly damaging Het
Mbnl1 A T 3: 60,532,551 (GRCm39) I274L probably benign Het
Or13a27 T G 7: 139,925,411 (GRCm39) M164L probably benign Het
Or4c108 C T 2: 88,804,082 (GRCm39) R51H probably benign Het
Pdcd1 A G 1: 93,967,142 (GRCm39) V252A probably damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Plcxd3 A G 15: 4,546,317 (GRCm39) D107G possibly damaging Het
Polr2m T A 9: 71,390,866 (GRCm39) D112V probably benign Het
Ptprn A T 1: 75,229,796 (GRCm39) M701K probably damaging Het
Rxrb A G 17: 34,255,879 (GRCm39) D421G possibly damaging Het
Slfn4 A G 11: 83,078,355 (GRCm39) E381G probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Srgap1 A G 10: 121,661,341 (GRCm39) I530T probably damaging Het
Stmn4 A G 14: 66,595,341 (GRCm39) H122R probably damaging Het
Sycp2 T C 2: 177,998,427 (GRCm39) E1031G probably damaging Het
Tle1 T C 4: 72,043,181 (GRCm39) T553A probably benign Het
Tnik T A 3: 28,609,086 (GRCm39) W217R unknown Het
Tyrp1 T C 4: 80,769,190 (GRCm39) V161A unknown Het
Usp29 T A 7: 6,965,406 (GRCm39) F416L probably benign Het
Usp45 T C 4: 21,781,736 (GRCm39) V34A probably benign Het
Vmn1r119 A G 7: 20,745,932 (GRCm39) V150A probably damaging Het
Other mutations in Igfbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Igfbp3 APN 11 7,158,478 (GRCm39) missense possibly damaging 0.69
IGL01990:Igfbp3 APN 11 7,158,504 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GGACTGCCTACCTATGAACC -3'
(R):5'- ATTGCCTTGTAGGTGTGACC -3'

Sequencing Primer
(F):5'- ACTTGCTGCACAAAGGCTGTC -3'
(R):5'- GACCTGCCCCTGACAAGGTTATC -3'
Posted On 2020-07-13