Igf2 - SNV Details



 Human Rare Diseases 
Silver-Russell syndrome due to 11p15 microduplication
Silver-Russell syndrome due to imprinting defect of 11p15
Hemihypertrophy
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

 Gene Information 
Gene Name Igf2
Old Gene Names for Igf2 Igf-2 , Al033362
Gene Description insulin-like growth factor 2 [Source:MGI Symbol;Acc:MGI:96434]
MGI phenotype Mutations that are paternally transmitted result in growth deficiency. Heterozygous mice inheriting a mutant allele from their mother appear to be phenotypically normal.
Uniprot Name
CCDS Name
Gene GO
positive regulation of mitosis; response to nutrient levels; positive regulation of catalytic activity; insulin receptor binding; positive regulation of receptor activity; organ morphogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of protein kinase B signaling cascade; positive regulation of protein phosphorylation; insulin receptor signaling pathway via phosphatidylinositol 3-kinase cascade; positive regulation of activated T cell proliferation; response to nicotine; response to radiation; positive regulation of cell division; hormone activity; wound healing; positive regulation of MAPK cascade; positive regulation of protein serine/threonine kinase activity; protein binding; receptor activator activity; glucose metabolic process; positive regulation of glycogen (starch) synthase activity; response to estradiol stimulus; response to organic cyclic compound; positive regulation of steroid hormone biosynthetic process; response to drug; protein serine/threonine kinase activator activity; response to ethanol; positive regulation of peptidyl-tyrosine phosphorylation; extracellular region; insulin-like growth factor receptor binding; cellular response to mechanical stimulus; striated muscle cell differentiation; growth factor activity; memory; positive regulation of insulin receptor signaling pathway; exocrine pancreas development; positive regulation of glycogen biosynthetic process; extracellular space; osteoblast differentiation
Homolog in other species IGF2
Omim http://omim.org/entry/147470
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EPITH GROUP, IMM.G2, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000048583
Chromosome 7
Coordinate 142,654,048     (Assembly: GRCm38)    
Ref Base T
Codon Change gAc/gGc
Var Base C
Zygosity Heterozygous
Read Depth 31
Allele Frequency
T:R0.48
C:V0.52
Amino Acid Position 115
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL02458
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 69 Other Mutations

 Predictions 
Polyphen Score 0.14
Polyphen Prediction Benign
Sift Score 0.07
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved