Kalrn - SNV Details



 Gene Information 
Gene Name Kalrn
Old Gene Names for Kalrn 2210407g14rik , Hapip , Av235988 , E530005c20rik , Gm539
Gene Description kalirin, RhoGEF kinase [Source:MGI Symbol;Acc:MGI:2685385]
Uniprot Name
CCDS Name
Gene GO
protein kinase activity; cytoplasm; metal ion binding; transferase activity
transferring phosphorus-containing groups; Rho guanyl-nucleotide exchange factor activity; protein binding; extracellular vesicular exosome; cytoskeleton; regulation of Rho protein signal transduction; protein phosphorylation; protein tyrosine kinase activity; ATP binding; regulation of Rho GTPase activity; protein serine/threonine kinase activity
Homolog in other species KALRN
Omim http://omim.org/entry/604605
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000061751
Chromosome 16
Coordinate 34,314,192     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 18
Allele Frequency
C:R0.61
A:V0.39
Amino Acid Change V->L (Valine -> Leucine)
Sample ID IGL03188
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved