|Institutional Source||Beutler Lab|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4966 (G1)|
|Chromosomal Location||52047173-52088735 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 52075009 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 372 (V372A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055303 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000590] [ENSMUST00000061352] [ENSMUST00000163153]|
AA Change: V372A
PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
AA Change: V372A
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||96% (94/98)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a targeted mutation display mild degenerative changes in the liver and hyperbilirubinemia. Adult homozygotes exhibit profound deafness, but not imbalance, associated with progressive degeneration of stereocilia of cochlear hair cells after the onset of hearing. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rdx||
(F):5'- CTGACCTCTGCCTTATACTGAAG -3'
(R):5'- TGGTCAGTTACTGCACTTGAG -3'
(F):5'- TCTACAGAGTGAGTTCCAGGAC -3'
(R):5'- TTTAGGACAAATTACAAGACAACCAC -3'