Cspg4 - SNV Details



 Gene Information 
Gene Name Cspg4
Old Gene Names for Cspg4 4732461b14rik
Gene Description chondroitin sulfate proteoglycan 4 [Source:MGI Symbol;Acc:MGI:2153093]
MGI phenotype Mice homozygous for a null mutation display abnormal dentate gyrus morphology and abnormal smooth muscle cell physiology.
Uniprot Name
CCDS Name
Gene GO
intracellular signal transduction; lamellipodium membrane; activation of MAPK activity; apical plasma membrane; cell proliferation; glial cell migration; angiogenesis; protein binding; transmembrane receptor protein tyrosine kinase signaling pathway; integral component of membrane; extracellular vesicular exosome; positive regulation of peptidyl-tyrosine phosphorylation; plasma membrane; tissue remodeling; signal transducer activity; protein kinase binding
Homolog in other species CSPG4
Omim http://omim.org/entry/601172
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
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 ENSMUSG00000032911
Chromosome 9
Coordinate 56,897,739     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 13
Allele Frequency
T:R0.38
C:V0.62
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL03202
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0.97
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved