C2cd2 - SNV Details



 Gene Information 
Gene Name C2cd2
Old Gene Names for C2cd2 Ai449533 , Orf25 , 5830404h04rik , Ai314146 , Bf168443
Gene Description C2 calcium-dependent domain containing 2 [Source:MGI Symbol;Acc:MGI:1891883]
Uniprot Name
CCDS Name
Gene GO
protein binding; nucleus; cytosol; biological_process; molecular_function
Homolog in other species C2CD2
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000045975
Chromosome 16
Coordinate 97,870,232     (Assembly: GRCm38)    
Ref Base C
Codon Change cGg/cAg
Var Base T
Zygosity Heterozygous
Read Depth 39
Allele Frequency
C:R0.67
T:V0.33
Amino Acid Position 489
Amino Acid Change R->Q (Arginine -> Glutamine)
Sample ID IGL02071
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0.12
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved