Cyr61 - SNV Details



 Gene Information 
Gene Name Cyr61
Old Gene Names for Cyr61 Ai325051
Gene Description cysteine rich protein 61 [Source:MGI Symbol;Acc:MGI:88613]
MGI phenotype Targeted null mice die pre- or perinatally, and none survive beyond 24 hrs of birth. About 30% of embryos die by E10.5 from defects in chorioallantoic fusion, whereas 70% die from placental vascular defects, including impaired allantoic vessel bifurcation, and loss of large-vessel integrity.
Uniprot Name
CCDS Name
Gene GO
integrin binding; atrial septum morphogenesis; intussusceptive angiogenesis; chemotaxis; apoptotic process involved in heart morphogenesis; positive regulation of transcription from RNA polymerase II promoter; chorio-allantoic fusion; positive regulation of protein phosphorylation; cell adhesion; positive regulation of apoptotic process; negative regulation of apoptotic process; labyrinthine layer blood vessel development; chondroblast differentiation; atrioventricular valve morphogenesis; positive regulation of cell-substrate adhesion; positive regulation of cell migration; positive regulation of cell differentiation; insulin-like growth factor binding; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of phospholipase activity; protein binding; positive regulation of cartilage development; cell-cell adhesion; heparin binding; positive regulation of ceramide biosynthetic process; ventricular septum development; positive regulation of osteoblast proliferation; extracellular matrix organization; positive regulation of protein kinase activity; extracellular region; regulation of ERK1 and ERK2 cascade; reactive oxygen species metabolic process; extracellular matrix binding; positive regulation of BMP signaling pathway; wound healing
spreading of cells; regulation of cell growth; osteoblast differentiation; positive regulation of osteoblast differentiation
Homolog in other species CYR61
Omim http://omim.org/entry/602369
Immgen Expression
LOW(HIGH 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 ENSMUSG00000028195
Chromosome 3
Coordinate 145,648,700     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 59
Allele Frequency
T:R0.47
C:V0.52
Amino Acid Change K->R (Lysine -> Arginine)
Sample ID IGL02500
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 46 Other Mutations

 Predictions 
Polyphen Score 0.8
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved