Incidental Mutation 'R1138:Igfbp2'
ID 95257
Institutional Source Beutler Lab
Gene Symbol Igfbp2
Ensembl Gene ENSMUSG00000039323
Gene Name insulin-like growth factor binding protein 2
Synonyms IGFBP-2, Igfbp-2
MMRRC Submission 039211-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R1138 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 72863662-72891633 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72888257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 133 (D133G)
Ref Sequence ENSEMBL: ENSMUSP00000046610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047328] [ENSMUST00000120564]
AlphaFold P47877
Predicted Effect probably damaging
Transcript: ENSMUST00000047328
AA Change: D133G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046610
Gene: ENSMUSG00000039323
AA Change: D133G

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
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,967,497 (GRCm39) N974K probably benign Het
Brd8dc C T 18: 34,713,297 (GRCm39) V258I probably benign Het
Bub1b C T 2: 118,453,570 (GRCm39) T467I probably benign Het
Bzw1 T C 1: 58,440,545 (GRCm39) Y173H probably damaging Het
Chl1 A G 6: 103,670,140 (GRCm39) D526G probably benign Het
Dnajc22 AGACACT A 15: 99,002,308 (GRCm39) probably benign Het
Dstyk A G 1: 132,391,224 (GRCm39) N920S probably benign Het
Glra3 A G 8: 56,542,011 (GRCm39) probably null Het
Hpgd G A 8: 56,760,712 (GRCm39) M136I probably benign Het
Lin54 A G 5: 100,591,993 (GRCm39) M642T probably damaging Het
Map7d1 T C 4: 126,135,912 (GRCm39) T99A possibly damaging Het
Mfsd4b5 C T 10: 39,851,150 (GRCm39) C35Y probably damaging Het
Mycbp2 G T 14: 103,412,262 (GRCm39) N2570K possibly damaging Het
Nr4a2 T C 2: 57,002,391 (GRCm39) S21G probably damaging Het
Oacyl T A 18: 65,858,521 (GRCm39) L209Q probably damaging Het
Or4c125 T C 2: 89,170,434 (GRCm39) I71V probably benign Het
Pkd1 C A 17: 24,805,006 (GRCm39) N3218K probably damaging Het
Scyl3 A G 1: 163,761,234 (GRCm39) N46S possibly damaging Het
Sh2d3c G T 2: 32,639,417 (GRCm39) R349L probably benign Het
Siae G A 9: 37,553,988 (GRCm39) R366H probably damaging Het
Tmem108 T C 9: 103,376,168 (GRCm39) N427S possibly damaging Het
Other mutations in Igfbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Igfbp2 APN 1 72,888,287 (GRCm39) missense probably benign 0.02
IGL02435:Igfbp2 APN 1 72,891,245 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- AAACACCCAGCTAAGTTGTGGAGG -3'
(R):5'- TGTGCAGGGAGTAGAGATGTTCCAG -3'

Sequencing Primer
(F):5'- CTAAGTTGTGGAGGCTGGGC -3'
(R):5'- TAGGGCAGTATCAGTGTCCAC -3'
Posted On 2014-01-05