Incidental Mutation 'IGL02435:Igfbp2'
ID293248
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igfbp2
Ensembl Gene ENSMUSG00000039323
Gene Nameinsulin-like growth factor binding protein 2
SynonymsIGFBP-2, Igfbp-2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.315) question?
Stock #IGL02435
Quality Score
Status
Chromosome1
Chromosomal Location72824503-72852474 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 72852086 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 281 (R281Q)
Ref Sequence ENSEMBL: ENSMUSP00000046610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047328] [ENSMUST00000120564]
Predicted Effect probably damaging
Transcript: ENSMUST00000047328
AA Change: R281Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046610
Gene: ENSMUSG00000039323
AA Change: R281Q

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 damaging
Transcript: ENSMUST00000120564
AA Change: R134Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112706
Gene: ENSMUSG00000039323
AA Change: R134Q

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI314180 A G 4: 58,830,325 probably benign Het
Amph A G 13: 19,139,163 probably benign Het
Ankrd12 G T 17: 65,987,156 S427R probably damaging Het
Atp4a A G 7: 30,717,057 T420A probably benign Het
Braf C T 6: 39,646,766 S414N probably benign Het
C1rl T C 6: 124,508,873 L401P probably damaging Het
Elmo1 A T 13: 20,589,656 D612V probably damaging Het
Fbxo15 T C 18: 84,959,226 S88P probably damaging Het
Glrx3 A G 7: 137,461,396 N132S possibly damaging Het
Hamp G T 7: 30,943,899 Q29K probably benign Het
Itih3 C T 14: 30,915,754 A483T probably damaging Het
Mrc1 C T 2: 14,248,860 Q231* probably null Het
Nif3l1 A G 1: 58,447,861 T69A possibly damaging Het
Ntrk1 A G 3: 87,788,732 F157S probably benign Het
Olfr1245 A G 2: 89,575,546 F60S probably damaging Het
Olfr1447 A T 19: 12,901,027 I251N probably damaging Het
Olfr694 A G 7: 106,689,503 V76A probably benign Het
Pck2 T C 14: 55,544,390 probably benign Het
Pdgfrb T C 18: 61,064,926 probably null Het
Ric8b A G 10: 84,980,076 N194S probably benign Het
Rlbp1 A G 7: 79,381,666 F105L probably damaging Het
Sde2 G T 1: 180,866,152 K402N probably damaging Het
Slc13a3 T C 2: 165,408,940 H461R possibly damaging Het
Spag17 A T 3: 99,982,444 I210F possibly damaging Het
Szt2 G A 4: 118,390,823 R735W probably damaging Het
Tspan6 T C X: 133,892,744 Y186C probably benign Het
Ugt8a A G 3: 125,867,320 S508P probably benign Het
Zfp217 T C 2: 170,119,453 D318G possibly damaging Het
Other mutations in Igfbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Igfbp2 APN 1 72849128 missense probably benign 0.02
R1138:Igfbp2 UTSW 1 72849098 missense probably damaging 0.99
R1688:Igfbp2 UTSW 1 72824966 critical splice donor site probably null
R2045:Igfbp2 UTSW 1 72852151 missense probably benign 0.13
R5704:Igfbp2 UTSW 1 72852144 missense probably benign 0.02
R6128:Igfbp2 UTSW 1 72824799 missense probably damaging 1.00
R6395:Igfbp2 UTSW 1 72824919 missense probably damaging 1.00
R6836:Igfbp2 UTSW 1 72849658 missense probably damaging 1.00
R7002:Igfbp2 UTSW 1 72849645 missense probably damaging 0.99
R7511:Igfbp2 UTSW 1 72852005 missense probably damaging 1.00
R7586:Igfbp2 UTSW 1 72849148 missense probably benign
Posted On2015-04-16