Incidental Mutation 'R8055:Rdx'
ID 619323
Institutional Source Beutler Lab
Gene Symbol Rdx
Ensembl Gene ENSMUSG00000032050
Gene Name radixin
Synonyms
MMRRC Submission 067492-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8055 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 51958450-52000038 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 51997724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 566 (R566Q)
Ref Sequence ENSEMBL: ENSMUSP00000000590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000590] [ENSMUST00000163153]
AlphaFold P26043
Predicted Effect probably damaging
Transcript: ENSMUST00000000590
AA Change: R566Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000590
Gene: ENSMUSG00000032050
AA Change: R566Q

DomainStartEndE-ValueType
B41 1 206 4.99e-82 SMART
FERM_C 210 299 1.43e-35 SMART
Pfam:ERM 338 583 6e-85 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163153
AA Change: R566Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128249
Gene: ENSMUSG00000032050
AA Change: R566Q

DomainStartEndE-ValueType
B41 1 206 4.99e-82 SMART
FERM_C 210 299 1.43e-35 SMART
Pfam:ERM 338 583 3.4e-78 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype 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
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrm1b C A 3: 92,336,139 (GRCm39) G188W unknown Het
Ahcyl1 A T 3: 107,576,047 (GRCm39) D353E probably benign Het
Alk G T 17: 72,206,252 (GRCm39) P1033T probably benign Het
Asb15 G T 6: 24,556,565 (GRCm39) C20F probably benign Het
BC049715 A G 6: 136,816,913 (GRCm39) N51S possibly damaging Het
Ccser1 G A 6: 61,290,757 (GRCm39) V480M possibly damaging Het
Cep295 T C 9: 15,244,905 (GRCm39) N1184D probably benign Het
Cers6 C T 2: 68,777,625 (GRCm39) R111W probably damaging Het
Clybl T A 14: 122,615,273 (GRCm39) D204E probably damaging Het
Cxcl13 T C 5: 96,107,763 (GRCm39) V73A probably benign Het
Dchs2 A G 3: 83,037,032 (GRCm39) N593S probably benign Het
Esco2 A T 14: 66,069,168 (GRCm39) N47K probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fmo4 T C 1: 162,636,015 (GRCm39) T46A probably benign Het
Gm15217 T C 14: 46,616,911 (GRCm39) probably benign Het
Gnb5 G T 9: 75,250,826 (GRCm39) A317S probably benign Het
Klf14 A G 6: 30,934,722 (GRCm39) V304A probably benign Het
Klrc2 A T 6: 129,633,424 (GRCm39) C209* probably null Het
Kmt2a A T 9: 44,732,378 (GRCm39) N2646K unknown Het
Krt14 C G 11: 100,095,584 (GRCm39) V274L possibly damaging Het
Myo16 A T 8: 10,612,186 (GRCm39) D1277V unknown Het
Myo9a A T 9: 59,814,743 (GRCm39) E2226D probably damaging Het
Osbpl8 T C 10: 111,120,255 (GRCm39) V631A possibly damaging Het
Piezo2 G A 18: 63,175,882 (GRCm39) S1833L probably damaging Het
Pkp4 T C 2: 59,138,359 (GRCm39) V203A probably benign Het
Primpol T C 8: 47,032,197 (GRCm39) D459G probably benign Het
Prkdc G T 16: 15,634,749 (GRCm39) R3631S probably benign Het
Rbbp8nl T C 2: 179,920,001 (GRCm39) T558A probably benign Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Rhbdf2 A C 11: 116,498,191 (GRCm39) S3A probably benign Het
Rpap1 A T 2: 119,595,284 (GRCm39) I1319N probably benign Het
Sbno2 T A 10: 79,905,265 (GRCm39) I206F possibly damaging Het
Scn1a A G 2: 66,149,845 (GRCm39) V944A probably damaging Het
Scube1 C T 15: 83,543,226 (GRCm39) probably null Het
Slc22a20 G A 19: 6,021,439 (GRCm39) A521V probably benign Het
Slc6a4 C A 11: 76,901,424 (GRCm39) T53K probably benign Het
Snapc2 G A 8: 4,304,322 (GRCm39) R75Q probably damaging Het
Sptan1 A T 2: 29,884,351 (GRCm39) K662I probably benign Het
Sycp3 T C 10: 88,298,438 (GRCm39) S55P probably damaging Het
Tet2 A T 3: 133,173,753 (GRCm39) V1503D possibly damaging Het
Tfrc T A 16: 32,437,474 (GRCm39) N277K probably benign Het
Tlx3 A T 11: 33,151,283 (GRCm39) V291E probably damaging Het
Tnk1 A T 11: 69,747,327 (GRCm39) H101Q probably benign Het
Tns3 A T 11: 8,495,343 (GRCm39) D70E probably damaging Het
Trip11 C A 12: 101,803,924 (GRCm39) G1938C probably damaging Het
Tubg1 T C 11: 101,014,828 (GRCm39) L190P probably damaging Het
Vmn2r79 A T 7: 86,686,541 (GRCm39) S641C possibly damaging Het
Wnt8b A G 19: 44,481,952 (GRCm39) probably benign Het
Other mutations in Rdx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00161:Rdx APN 9 51,997,646 (GRCm39) missense probably damaging 1.00
IGL02088:Rdx APN 9 51,972,183 (GRCm39) utr 5 prime probably benign
IGL02522:Rdx APN 9 51,979,504 (GRCm39) missense possibly damaging 0.92
R0731:Rdx UTSW 9 51,979,518 (GRCm39) missense probably benign 0.05
R0748:Rdx UTSW 9 51,976,160 (GRCm39) missense possibly damaging 0.87
R0831:Rdx UTSW 9 51,977,117 (GRCm39) missense probably damaging 1.00
R1605:Rdx UTSW 9 51,974,891 (GRCm39) missense probably damaging 1.00
R1688:Rdx UTSW 9 51,972,211 (GRCm39) splice site probably benign
R2127:Rdx UTSW 9 51,981,032 (GRCm39) missense possibly damaging 0.49
R2363:Rdx UTSW 9 51,980,173 (GRCm39) missense probably damaging 1.00
R2899:Rdx UTSW 9 51,980,211 (GRCm39) splice site probably benign
R4184:Rdx UTSW 9 51,978,680 (GRCm39) missense probably damaging 1.00
R4569:Rdx UTSW 9 51,980,141 (GRCm39) missense probably benign 0.07
R4607:Rdx UTSW 9 51,980,137 (GRCm39) missense probably damaging 0.99
R4760:Rdx UTSW 9 51,977,174 (GRCm39) missense probably benign 0.02
R4820:Rdx UTSW 9 51,974,891 (GRCm39) missense probably damaging 1.00
R4966:Rdx UTSW 9 51,986,309 (GRCm39) missense probably benign 0.00
R6707:Rdx UTSW 9 51,974,954 (GRCm39) missense probably damaging 1.00
R7136:Rdx UTSW 9 51,997,745 (GRCm39) missense probably damaging 1.00
R7308:Rdx UTSW 9 51,980,170 (GRCm39) missense probably damaging 0.98
R7597:Rdx UTSW 9 51,972,196 (GRCm39) missense possibly damaging 0.84
R7835:Rdx UTSW 9 51,977,088 (GRCm39) missense probably damaging 0.98
R7923:Rdx UTSW 9 51,977,201 (GRCm39) missense possibly damaging 0.93
R8057:Rdx UTSW 9 51,976,946 (GRCm39) missense probably damaging 1.00
R8889:Rdx UTSW 9 51,997,753 (GRCm39) missense probably damaging 1.00
R8983:Rdx UTSW 9 51,974,905 (GRCm39) missense probably damaging 1.00
R9128:Rdx UTSW 9 51,976,179 (GRCm39) nonsense probably null
R9226:Rdx UTSW 9 51,992,468 (GRCm39) missense probably benign 0.01
R9377:Rdx UTSW 9 51,980,168 (GRCm39) missense possibly damaging 0.83
R9469:Rdx UTSW 9 51,977,069 (GRCm39) missense probably damaging 1.00
R9534:Rdx UTSW 9 51,984,482 (GRCm39) nonsense probably null
R9746:Rdx UTSW 9 51,974,878 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAAAGATGCTTGCATACCAGCC -3'
(R):5'- CAGTCGACTGGTATGAGTGC -3'

Sequencing Primer
(F):5'- GCCAGAAAAACATTCCACAGTGG -3'
(R):5'- CGACTGGTATGAGTGCTTTGGC -3'
Posted On 2020-01-23