Robo2 - SNV Details



 Human Rare Diseases 
Familial vesicoureteral reflux

 Gene Information 
Gene Name Robo2
Old Gene Names for Robo2 Bb097918 , 9430089e08rik , D230004i22rik , 2600013a04rik
Gene Description roundabout homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1890110]
MGI phenotype Homozygous mutants display postnatal lethality, abnormal ureteric bud development, multiple fused kidneys, multiple ureters, and abnormal commissural axon growth.
Uniprot Name
CCDS Name
Gene GO
cellular response to hormone stimulus; negative regulation of negative chemotaxis; homophilic cell adhesion; protein binding; cell surface; positive regulation of axonogenesis; apoptotic process involved in luteolysis; axolemma; axon guidance; metanephros development; identical protein binding; ureteric bud development; protein heterodimerization activity; brain development
Homolog in other species ROBO2
Omim http://omim.org/entry/602431
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Gnf Expression
HIGH
MEDIAN(HIGH IN NS GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000052516
Chromosome 16
Coordinate 73,973,301     (Assembly: GRCm38)    
Ref Base T
Codon Change Atc/Ttc
Var Base A
Zygosity Heterozygous
Read Depth 25
Allele Frequency
T:R0.52
A:V0.48
Amino Acid Position 512
Amino Acid Change I->F (Isoleucine -> Phenylalanine)
Sample ID IGL02424
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Polyphen Score 0.05
Polyphen Prediction Benign
Sift Score 0.12
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved