Igfbp2 - SNV Details



 Gene Information 
Gene Name Igfbp2
Old Gene Names for Igfbp2 Igfbp-2 , Ai255832
Gene Description insulin-like growth factor binding protein 2 [Source:MGI Symbol;Acc:MGI:96437]
MGI 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.
Uniprot Name
CCDS Name
Gene GO
response to estrogen stimulus; response to steroid hormone stimulus; apical plasma membrane; cellular response to hormone stimulus; signal transduction; positive regulation of activated T cell proliferation; insulin-like growth factor binding; response to glucocorticoid stimulus; protein binding; response to retinoic acid; response to estradiol stimulus; aging; response to drug; response to stress; regulation of insulin-like growth factor receptor signaling pathway; cytoplasmic vesicle; extracellular region; response to mechanical stimulus; response to lithium ion; regulation of cell growth; insulin-like growth factor I binding; extracellular space; response to nutrient; insulin-like growth factor II binding; female pregnancy
Homolog in other species IGFBP2
Omim http://omim.org/entry/146731
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
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)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000039323
Chromosome 1
Coordinate 72,852,086     (Assembly: GRCm38)    
Ref Base G
Codon Change cGg/cAg
Var Base A
Zygosity Heterozygous
Read Depth 47
Allele Frequency
G:R0.51
A:V0.49
Amino Acid Position 281
Amino Acid Change R->Q (Arginine -> Glutamine)
Sample ID IGL02435
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 29 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000046610:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Thyroglobulin type-1 Thyroglobulin_1 IPR000716 ENSMUSP00000046610 Superfamily 200
292 Description available Search pathways
Thyroglobulin type-1 Thyroglobulin_1 IPR000716 ENSMUSP00000046610 Prosite_profiles 204
286 Description available Search pathways
Thyroglobulin type-1 Thyroglobulin_1 IPR000716 ENSMUSP00000046610 Pfam 207
286 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved