Tln2 - SNV Details



 Gene Information 
Gene Name Tln2
Old Gene Names for Tln2 Ai507121 , Al118320 , 5730421p04rik , Ai787438
Gene Description talin 2 [Source:MGI Symbol;Acc:MGI:1917799]
MGI phenotype Mice homozygous for a knock-out allele exhibit abnormal muscle morphology.
Uniprot Name
CCDS Name
Gene GO
cytoskeletal anchoring at plasma membrane; insulin receptor binding; cell adhesion; protein binding; synapse; ruffle; cytoskeleton; actin cytoskeleton; structural molecule activity; structural constituent of cytoskeleton; actin binding; fascia adherens; focal adhesion
Homolog in other species TLN2
Omim http://omim.org/entry/607349
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW
HIGH
MEDIAN(HIGH IN NS GROUP, IMM.G1, IMM.G3, OSTEO GROUP, EPITH GROUP, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000052698
Chromosome 9
Coordinate 67,334,257     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 20
Allele Frequency
A:R0.65
T:V0.35
Amino Acid Change M->K (Methionine -> Lysine)
Sample ID IGL03326
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0.96
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved