Mutagenetix > Incidental Mutation

Incidental Mutation 'R4966:Rdx'

384014

Institutional Source

Beutler Lab

Gene Symbol

Rdx

Ensembl Gene

ENSMUSG00000032050

Gene Name

radixin

Synonyms

MMRRC Submission

042562-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4966 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

52047173-52088735 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52075009 bp (GRCm38)

Zygosity

Heterozygous

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]

AlphaFold

P26043

Predicted Effect

probably benign
Transcript: ENSMUST00000000590

SMART Domains

Protein: ENSMUSP00000000590
Gene: ENSMUSG00000032050

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000061352
AA Change: V372A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000055303
Gene: ENSMUSG00000032050
AA Change: V372A

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000163153

SMART Domains

Protein: ENSMUSP00000128249
Gene: ENSMUSG00000032050

Domain	Start	End	E-Value	Type
B41	1	206	4.99e-82	SMART
FERM_C	210	299	1.43e-35	SMART
Pfam:ERM	338	583	3.4e-78	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.6%

Validation Efficiency

96% (94/98)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,474,221		probably benign	Het
9030619P08Rik	T	A	15: 75,431,418		noncoding transcript	Het
Abcb5	T	A	12: 118,886,891		probably benign	Het
Acox3	A	G	5: 35,589,736	N166D	probably damaging	Het
Actn1	T	C	12: 80,173,130	I656V	probably benign	Het
Arhgef15	A	G	11: 68,947,317	V659A	probably benign	Het
AW551984	T	C	9: 39,597,176	E348G	possibly damaging	Het
Bbs2	A	T	8: 94,080,807	V453E	probably damaging	Het
Caskin1	A	T	17: 24,507,161	D1414V	probably damaging	Het
Ccdc57	A	T	11: 120,861,152	S868T	probably benign	Het
Cdc34b	A	T	11: 94,742,261	I96F	probably damaging	Het
Ctnnd1	A	G	2: 84,622,073	F69L	possibly damaging	Het
Cyld	A	G	8: 88,742,301	I567V	possibly damaging	Het
Dact3	G	C	7: 16,886,088	V503L	unknown	Het
Dlg1	C	T	16: 31,754,808	T9I	probably benign	Het
Dnase1	T	C	16: 4,037,907		probably benign	Het
Drc7	G	A	8: 95,071,596	E490K	probably benign	Het
Drd4	T	C	7: 141,293,777	M114T	probably damaging	Het
Exoc3l4	A	G	12: 111,428,721	H591R	probably benign	Het
Fgfr1	C	A	8: 25,572,445	Y665*	probably null	Het
G2e3	A	G	12: 51,371,630	I603V	probably benign	Het
Glp2r	G	T	11: 67,757,593	Y94*	probably null	Het
Gnat1	A	T	9: 107,677,234	M115K	probably benign	Het
Gpr45	A	G	1: 43,033,120	T308A	probably benign	Het
Grm1	T	A	10: 10,719,665	K740*	probably null	Het
Gtsf2	T	C	15: 103,444,328	E88G	possibly damaging	Het
Hsh2d	C	T	8: 72,193,528	A23V	probably benign	Het
Ino80c	T	C	18: 24,106,645	D153G	probably damaging	Het
Ints11	T	C	4: 155,886,928	F278L	probably damaging	Het
Ints6	A	G	14: 62,702,462	L593P	probably damaging	Het
Map4k1	A	T	7: 28,983,002	H16L	probably benign	Het
Mipep	G	T	14: 60,784,782	R32L	probably damaging	Het
Mon1a	A	G	9: 107,902,651	E473G	probably damaging	Het
Myf5	A	T	10: 107,485,872	C20*	probably null	Het
Myh11	T	C	16: 14,205,954	E1512G	probably damaging	Het
Myo5c	T	C	9: 75,269,596	S608P	probably benign	Het
Myo9a	A	G	9: 59,871,734	D1591G	probably benign	Het
Myof	T	A	19: 37,935,852	I1306F	probably damaging	Het
Nlgn1	C	T	3: 25,920,237	G165D	possibly damaging	Het
Noc2l	C	G	4: 156,245,911	D513E	probably damaging	Het
Nup205	G	A	6: 35,243,849	R1862H	probably benign	Het
Nup210l	A	G	3: 90,106,901	H65R	probably benign	Het
Olfr1388	A	G	11: 49,444,118	D89G	possibly damaging	Het
Olfr827	A	T	10: 130,210,437	M231K	probably benign	Het
Pcmtd1	C	A	1: 7,161,009	Y176*	probably null	Het
Pde6h	C	T	6: 136,961,203	T58I	possibly damaging	Het
Pkd1	T	C	17: 24,586,068		probably null	Het
Polr1e	G	A	4: 45,029,429	A297T	probably damaging	Het
Rbm34	T	C	8: 126,951,337	D269G	possibly damaging	Het
Reep6	T	A	10: 80,333,799	F107Y	probably benign	Het
Rere	G	T	4: 150,613,816		probably benign	Het
Rmdn2	G	T	17: 79,666,875	A266S	probably damaging	Het
Rnf32	G	A	5: 29,198,578	R7H	probably benign	Het
Rnpepl1	A	T	1: 92,916,761	N325I	probably damaging	Het
Rps6ka5	T	A	12: 100,553,066	M763L	probably benign	Het
Ryr2	T	C	13: 11,714,611	E2375G	possibly damaging	Het
Ryr2	T	C	13: 11,833,992	T361A	probably benign	Het
Serpina3j	T	A	12: 104,319,784	C399*	probably null	Het
Serpinb9	T	A	13: 33,008,864	W135R	probably damaging	Het
Sim2	T	C	16: 94,123,421	V475A	probably benign	Het
Slc24a5	G	A	2: 125,068,268	V30I	probably benign	Het
Snrnp25	A	G	11: 32,207,595	K58E	probably damaging	Het
Stx1b	T	C	7: 127,807,921	I55V	probably damaging	Het
Tacc2	T	C	7: 130,728,777	S264P	probably damaging	Het
Tbc1d4	A	T	14: 101,458,174	Y943N	probably damaging	Het
Tlr5	T	C	1: 182,973,473	I114T	probably benign	Het
Tm2d3	A	G	7: 65,697,721	N101S	possibly damaging	Het
Tmem201	G	T	4: 149,718,687	Q575K	probably benign	Het
Tmem241	A	G	18: 12,104,119	S87P	probably damaging	Het
Trak2	G	A	1: 58,919,321	T267I	probably damaging	Het
Trmt2a	T	A	16: 18,249,554	C30*	probably null	Het
Ttbk2	A	T	2: 120,773,277	F258L	possibly damaging	Het
Ttk	T	A	9: 83,865,148	I680N	probably benign	Het
Ttn	T	C	2: 76,955,036	D665G	probably damaging	Het
Tulp4	G	A	17: 6,198,813	E36K	probably damaging	Het
Unc93b1	T	C	19: 3,942,023		probably null	Het
Uroc1	T	C	6: 90,345,394	L300P	probably damaging	Het
Vmn2r67	A	T	7: 85,136,385	V804E	probably damaging	Het
Wdr81	T	A	11: 75,445,949	Q1538L	probably benign	Het
Zfp457	T	A	13: 67,293,278	H315L	probably damaging	Het
Zfp518a	T	A	19: 40,915,851	V1408D	possibly damaging	Het
Zfp52	T	G	17: 21,560,403	L171R	probably benign	Het
Zfp712	C	T	13: 67,040,612	C617Y	probably damaging	Het
Zfp770	T	C	2: 114,197,387	N67S	probably benign	Het
Zmat4	T	C	8: 23,902,069	S83P	probably damaging	Het

Other mutations in Rdx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Rdx	APN	9	52086346	missense	probably damaging	1.00
IGL02088:Rdx	APN	9	52060883	utr 5 prime	probably benign
IGL02522:Rdx	APN	9	52068204	missense	possibly damaging	0.92
R0731:Rdx	UTSW	9	52068218	missense	probably benign	0.05
R0748:Rdx	UTSW	9	52064860	missense	possibly damaging	0.87
R0831:Rdx	UTSW	9	52065817	missense	probably damaging	1.00
R1605:Rdx	UTSW	9	52063591	missense	probably damaging	1.00
R1688:Rdx	UTSW	9	52060911	splice site	probably benign
R2127:Rdx	UTSW	9	52069732	missense	possibly damaging	0.49
R2363:Rdx	UTSW	9	52068873	missense	probably damaging	1.00
R2899:Rdx	UTSW	9	52068911	splice site	probably benign
R4184:Rdx	UTSW	9	52067380	missense	probably damaging	1.00
R4569:Rdx	UTSW	9	52068841	missense	probably benign	0.07
R4607:Rdx	UTSW	9	52068837	missense	probably damaging	0.99
R4760:Rdx	UTSW	9	52065874	missense	probably benign	0.02
R4820:Rdx	UTSW	9	52063591	missense	probably damaging	1.00
R6707:Rdx	UTSW	9	52063654	missense	probably damaging	1.00
R7136:Rdx	UTSW	9	52086445	missense	probably damaging	1.00
R7308:Rdx	UTSW	9	52068870	missense	probably damaging	0.98
R7597:Rdx	UTSW	9	52060896	missense	possibly damaging	0.84
R7835:Rdx	UTSW	9	52065788	missense	probably damaging	0.98
R7923:Rdx	UTSW	9	52065901	missense	possibly damaging	0.93
R8055:Rdx	UTSW	9	52086424	missense	probably damaging	1.00
R8057:Rdx	UTSW	9	52065646	missense	probably damaging	1.00
R8889:Rdx	UTSW	9	52086453	missense	probably damaging	1.00
R8983:Rdx	UTSW	9	52063605	missense	probably damaging	1.00
R9128:Rdx	UTSW	9	52064879	nonsense	probably null
R9226:Rdx	UTSW	9	52081168	missense	probably benign	0.01
R9377:Rdx	UTSW	9	52068868	missense	possibly damaging	0.83
R9469:Rdx	UTSW	9	52065769	missense	probably damaging	1.00
R9534:Rdx	UTSW	9	52073182	nonsense	probably null
R9746:Rdx	UTSW	9	52063578	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTGACCTCTGCCTTATACTGAAG -3'
(R):5'- TGGTCAGTTACTGCACTTGAG -3'

Sequencing Primer
(F):5'- TCTACAGAGTGAGTTCCAGGAC -3'
(R):5'- TTTAGGACAAATTACAAGACAACCAC -3'

Posted On

2016-04-27