Incidental Mutation 'R9534:Rdx'
ID 719612
Institutional Source Beutler Lab
Gene Symbol Rdx
Ensembl Gene ENSMUSG00000032050
Gene Name radixin
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9534 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 51958450-52000038 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 51984482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 330 (R330*)
Ref Sequence ENSEMBL: ENSMUSP00000000590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000590] [ENSMUST00000061352] [ENSMUST00000163153]
AlphaFold P26043
Predicted Effect probably null
Transcript: ENSMUST00000000590
AA Change: R330*
SMART Domains Protein: ENSMUSP00000000590
Gene: ENSMUSG00000032050
AA Change: R330*

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 null
Transcript: ENSMUST00000061352
AA Change: R330*
SMART Domains Protein: ENSMUSP00000055303
Gene: ENSMUSG00000032050
AA Change: R330*

B41 1 206 4.99e-82 SMART
FERM_C 210 299 1.43e-35 SMART
coiled coil region 300 365 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000163153
AA Change: R330*
SMART Domains Protein: ENSMUSP00000128249
Gene: ENSMUSG00000032050
AA Change: R330*

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 C A 19: 4,913,477 (GRCm39) Q651H probably benign Het
Ahnak G T 19: 8,980,976 (GRCm39) M753I probably benign Het
Ap1ar T C 3: 127,602,364 (GRCm39) T225A probably damaging Het
Asic1 T G 15: 99,594,397 (GRCm39) I281S probably benign Het
Bard1 C T 1: 71,114,189 (GRCm39) C264Y probably benign Het
Bltp1 A G 3: 37,052,419 (GRCm39) T3040A probably benign Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Cacna1e T C 1: 154,320,693 (GRCm39) H1354R possibly damaging Het
Cc2d2b G T 19: 40,799,068 (GRCm39) E860* probably null Het
Cenpn T A 8: 117,661,474 (GRCm39) L191* probably null Het
Cep68 T C 11: 20,190,686 (GRCm39) R109G probably benign Het
Col9a1 T A 1: 24,224,250 (GRCm39) V144E unknown Het
Coro2a T C 4: 46,548,884 (GRCm39) T137A probably benign Het
Ecpas A G 4: 58,807,867 (GRCm39) V1667A probably benign Het
Eml6 T C 11: 29,734,155 (GRCm39) D1195G possibly damaging Het
Hspg2 G A 4: 137,268,072 (GRCm39) V2130I probably benign Het
Ifi214 A T 1: 173,354,092 (GRCm39) S193T probably benign Het
Iqsec3 C A 6: 121,367,077 (GRCm39) V724L possibly damaging Het
Lamb2 G T 9: 108,365,830 (GRCm39) G1445W probably damaging Het
Mis18bp1 A T 12: 65,205,234 (GRCm39) S313T possibly damaging Het
Or1f19 A T 16: 3,410,937 (GRCm39) I226F probably benign Het
Or4a68 A C 2: 89,269,999 (GRCm39) V208G probably benign Het
Or5b104 T C 19: 13,072,121 (GRCm39) E124G probably damaging Het
Pcdh9 C T 14: 94,123,656 (GRCm39) C838Y probably damaging Het
Pdcd11 A G 19: 47,108,718 (GRCm39) M1245V probably benign Het
Ppp3r1 A G 11: 17,132,123 (GRCm39) Y7C probably benign Het
Scaf11 T G 15: 96,318,209 (GRCm39) N452H possibly damaging Het
Scube1 A G 15: 83,606,102 (GRCm39) Y57H probably damaging Het
Slc35d3 T C 10: 19,725,116 (GRCm39) T247A probably damaging Het
Slfn5 A T 11: 82,849,523 (GRCm39) M341L probably benign Het
Smc2 T A 4: 52,462,870 (GRCm39) M620K probably damaging Het
Smg5 T A 3: 88,252,759 (GRCm39) S182T probably benign Het
Tdrd6 G T 17: 43,936,510 (GRCm39) L1513I probably benign Het
Tet2 A T 3: 133,173,689 (GRCm39) Y1524* probably null Het
Tex15 A G 8: 34,060,999 (GRCm39) N143S probably benign Het
Urb1 A G 16: 90,583,096 (GRCm39) I591T possibly damaging Het
Usp21 A G 1: 171,110,942 (GRCm39) S435P probably benign Het
Usp24 T C 4: 106,264,312 (GRCm39) Y1748H probably damaging Het
Vmn2r54 C A 7: 12,366,093 (GRCm39) K280N probably benign Het
Zan G T 5: 137,407,945 (GRCm39) C3616* probably null Het
Zfp804b T C 5: 6,819,115 (GRCm39) D1316G probably damaging 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
R8055:Rdx UTSW 9 51,997,724 (GRCm39) missense probably damaging 1.00
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
R9746:Rdx UTSW 9 51,974,878 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-07-18