Gpc6 - SNV Details



 Human Rare Diseases 
Autosomal recessive omodysplasia

 Gene Information 
Gene Name Gpc6
Old Gene Names for Gpc6 6720429c22rik , Ai480529
Gene Description glypican 6 [Source:MGI Symbol;Acc:MGI:1346322]
Uniprot Name
CCDS Name
Gene GO
membrane; proteinaceous extracellular matrix; Golgi lumen; integral to plasma membrane; cell migration; anchored to membrane; heparan sulfate proteoglycan binding; extracellular space
Homolog in other species GPC6
Omim http://omim.org/entry/604404
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN
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)
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 ENSMUSG00000058571
Chromosome 14
Coordinate 117,964,830     (Assembly: GRCm38)    
Ref Base T
Codon Change cTg/cGg
Var Base G
Zygosity Heterozygous
Read Depth 150
Allele Frequency
T:R0.55
G:V0.45
Amino Acid Position 474
Amino Acid Change L->R (Leucine -> Arginine)
Sample ID IGL01545
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 50 Other Mutations

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

 Protein domains 
ENSMUSP00000077893:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Glypican Glypican IPR001863 ENSMUSP00000077893 Pfam 22
552 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved