Incidental Mutation 'IGL00495:Igfbp2'
ID 11420
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igfbp2
Ensembl Gene ENSMUSG00000039323
Gene Name insulin-like growth factor binding protein 2
Synonyms IGFBP-2, Igfbp-2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.271) question?
Stock # IGL00495
Quality Score
Status
Chromosome 1
Chromosomal Location 72863662-72891633 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72888287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 143 (H143R)
Ref Sequence ENSEMBL: ENSMUSP00000046610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047328] [ENSMUST00000120564]
AlphaFold P47877
Predicted Effect probably benign
Transcript: ENSMUST00000047328
AA Change: H143R

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000046610
Gene: ENSMUSG00000039323
AA Change: H143R

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
IB 38 117 2.08e-35 SMART
TY 238 290 1.17e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120564
SMART Domains Protein: ENSMUSP00000112706
Gene: ENSMUSG00000039323

DomainStartEndE-ValueType
TY 91 143 1.17e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155703
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is one of several similar proteins that bind insulin-like growth factors I and II (Igf-I and Igf-II). The encoded protein can be secreted into the bloodstream, where it binds Igf-I and Igf-II with high affinity, or it can remain intracellular, interacting with many different ligands. Two transcript variants, one encoding a secreted isoform and the other encoding a nonsecreted isoform, have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutation of this gene results in reduced spleen, heart and kidney size and increased liver weight. Homozygotes for another allele exhibit a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,327,143 (GRCm39) T679A probably benign Het
Bhlhe40 T A 6: 108,638,139 (GRCm39) M33K probably benign Het
Cacna2d1 T C 5: 16,575,607 (GRCm39) S1059P probably benign Het
Cdkn1a C A 17: 29,317,494 (GRCm39) A38E possibly damaging Het
Chrm2 A T 6: 36,500,355 (GRCm39) I71F possibly damaging Het
Cntnap5c A G 17: 58,469,272 (GRCm39) Q618R probably benign Het
Cog5 T A 12: 31,887,308 (GRCm39) N476K probably benign Het
Dhx36 G A 3: 62,377,979 (GRCm39) probably benign Het
Dnajb8 G T 6: 88,199,836 (GRCm39) R124L possibly damaging Het
Dnajc16 A T 4: 141,490,874 (GRCm39) probably null Het
Dzip1 T C 14: 119,120,806 (GRCm39) D717G probably benign Het
Eps15 G T 4: 109,166,346 (GRCm39) V80L probably damaging Het
Fmn1 G A 2: 113,274,812 (GRCm39) probably benign Het
Gm12185 A G 11: 48,798,688 (GRCm39) S602P probably damaging Het
Gm28539 T G 16: 18,773,530 (GRCm39) probably benign Het
Grm3 T C 5: 9,562,290 (GRCm39) N520S probably benign Het
Hivep2 A G 10: 14,017,988 (GRCm39) N1825S probably damaging Het
Igsf8 T G 1: 172,145,111 (GRCm39) V146G possibly damaging Het
Kif13b T G 14: 64,951,562 (GRCm39) S68A probably benign Het
Lrrc15 T A 16: 30,092,848 (GRCm39) I164F possibly damaging Het
Mrrf G A 2: 36,031,643 (GRCm39) R53H possibly damaging Het
Ms4a6d G A 19: 11,579,249 (GRCm39) T76I probably damaging Het
Pkd1l1 T C 11: 8,818,493 (GRCm39) R1332G probably benign Het
Plekha1 A G 7: 130,479,569 (GRCm39) Y29C probably damaging Het
Pnliprp1 A T 19: 58,723,162 (GRCm39) H221L probably damaging Het
Pomt2 T C 12: 87,171,630 (GRCm39) D380G probably damaging Het
Ppm1f C A 16: 16,728,835 (GRCm39) T79N possibly damaging Het
Ppp4r3b A C 11: 29,161,782 (GRCm39) T719P possibly damaging Het
Socs4 G A 14: 47,527,709 (GRCm39) V215I probably benign Het
Spg11 A G 2: 121,924,937 (GRCm39) probably null Het
Stk31 T A 6: 49,414,377 (GRCm39) C459S probably benign Het
Ttn A G 2: 76,539,546 (GRCm39) V26153A possibly damaging Het
Twf1 C T 15: 94,478,817 (GRCm39) probably benign Het
Vrk3 A T 7: 44,419,071 (GRCm39) K383M probably damaging Het
Wdr83 A T 8: 85,806,443 (GRCm39) N118K probably damaging Het
Other mutations in Igfbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02435:Igfbp2 APN 1 72,891,245 (GRCm39) missense probably damaging 1.00
R1138:Igfbp2 UTSW 1 72,888,257 (GRCm39) missense probably damaging 0.99
R1688:Igfbp2 UTSW 1 72,864,125 (GRCm39) critical splice donor site probably null
R2045:Igfbp2 UTSW 1 72,891,310 (GRCm39) missense probably benign 0.13
R5704:Igfbp2 UTSW 1 72,891,303 (GRCm39) missense probably benign 0.02
R6128:Igfbp2 UTSW 1 72,863,958 (GRCm39) missense probably damaging 1.00
R6395:Igfbp2 UTSW 1 72,864,078 (GRCm39) missense probably damaging 1.00
R6836:Igfbp2 UTSW 1 72,888,817 (GRCm39) missense probably damaging 1.00
R7002:Igfbp2 UTSW 1 72,888,804 (GRCm39) missense probably damaging 0.99
R7511:Igfbp2 UTSW 1 72,891,164 (GRCm39) missense probably damaging 1.00
R7586:Igfbp2 UTSW 1 72,888,307 (GRCm39) missense probably benign
R8323:Igfbp2 UTSW 1 72,888,780 (GRCm39) missense probably damaging 1.00
R9080:Igfbp2 UTSW 1 72,891,157 (GRCm39) missense probably damaging 0.98
Posted On 2012-12-06