Mutagenetix > Incidental Mutation

Incidental Mutation 'R1605:Rdx'

176409

Institutional Source

Beutler Lab

Gene Symbol

Rdx

Ensembl Gene

ENSMUSG00000032050

Gene Name

radixin

Synonyms

MMRRC Submission

039642-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51958450-52000038 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51974891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 9 (V9A)

Ref Sequence

ENSEMBL: ENSMUSP00000128249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000590] [ENSMUST00000061352] [ENSMUST00000163153]

AlphaFold

P26043

PDB Structure

CRYSTAL STRUCTURE OF THE RADIXIN FERM DOMAIN COMPLEXED WITH INOSITOL-(1,4,5)-TRIPHOSPHATE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE RADIXIN FERM DOMAIN [X-RAY DIFFRACTION]
Crystal structure of the radxin FERM domain complexed with the ICAM-2 cytoplasmic peptide [X-RAY DIFFRACTION]
Crystal structure of the Radixin FERM domain complexed with the NHERF-1 C-terminal tail peptide [X-RAY DIFFRACTION]
Crystal structure of the Radixin FERM domain complexed with the NHERF-2 C-terminal tail peptide [X-RAY DIFFRACTION]
Crystal structure of the dimerized radixin FERM domain [X-RAY DIFFRACTION]
Crystal Structure Analysis of the radixin FERM domain complexed with adhesion molecule CD43 [X-RAY DIFFRACTION]
Crystal Structure Analysis of the radixin FERM domain complexed with adhesion molecule PSGL-1 [X-RAY DIFFRACTION]
Crystal structure of the Radixin FERM domain complexed with the NEP cytoplasmic tail [X-RAY DIFFRACTION]
Crystal structure of the mouse radxin FERM domain complexed with the mouse CD44 cytoplasmic peptide [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000000590
AA Change: V9A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000590
Gene: ENSMUSG00000032050
AA Change: V9A

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 damaging
Transcript: ENSMUST00000061352
AA Change: V9A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055303
Gene: ENSMUSG00000032050
AA Change: V9A

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 damaging
Transcript: ENSMUST00000163153
AA Change: V9A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128249
Gene: ENSMUSG00000032050
AA Change: V9A

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

0.5824

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (75/76)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,506,104 (GRCm39)	K211E	probably damaging	Het
Acot7	A	G	4: 152,291,285 (GRCm39)	I84V	possibly damaging	Het
Ankrd44	A	G	1: 54,867,781 (GRCm39)	V34A	probably benign	Het
Atp4b	A	T	8: 13,443,489 (GRCm39)	M63K	probably damaging	Het
Atr	T	A	9: 95,818,516 (GRCm39)	I2163K	probably damaging	Het
Azgp1	A	T	5: 137,983,426 (GRCm39)	R34*	probably null	Het
Ccdc152	T	G	15: 3,327,603 (GRCm39)	K58T	probably damaging	Het
Ccdc88b	T	A	19: 6,827,837 (GRCm39)	Q912L	probably benign	Het
Cdc42ep5	T	A	7: 4,154,395 (GRCm39)	H131L	probably benign	Het
Chd7	G	A	4: 8,844,675 (GRCm39)	E1595K	probably damaging	Het
Col11a1	G	A	3: 113,925,290 (GRCm39)	G41D	probably damaging	Het
Cyp2b23	C	T	7: 26,385,843 (GRCm39)	V5I	probably benign	Het
D430041D05Rik	A	G	2: 104,085,915 (GRCm39)	V22A	possibly damaging	Het
Ddi1	T	C	9: 6,266,012 (GRCm39)	Y119C	probably benign	Het
Dysf	T	C	6: 84,083,923 (GRCm39)	L785P	probably damaging	Het
Eqtn	T	A	4: 94,816,587 (GRCm39)	T69S	possibly damaging	Het
F11	T	A	8: 45,694,617 (GRCm39)	K581N	probably damaging	Het
Gli2	G	A	1: 118,782,290 (GRCm39)	P172S	probably damaging	Het
Gm7579	G	T	7: 141,765,603 (GRCm39)	C3F	unknown	Het
Grin2a	A	G	16: 9,481,194 (GRCm39)	V501A	possibly damaging	Het
Grk4	G	A	5: 34,831,901 (GRCm39)	D57N	probably damaging	Het
Gsdma	A	T	11: 98,557,319 (GRCm39)	D86V	probably damaging	Het
Gsx1	A	G	5: 147,126,738 (GRCm39)	E187G	probably damaging	Het
Hdac1-ps	A	G	17: 78,799,537 (GRCm39)	D176G	probably damaging	Het
Inpp5k	T	A	11: 75,524,307 (GRCm39)	F75L	probably benign	Het
Itpr1	T	C	6: 108,326,620 (GRCm39)	V114A	possibly damaging	Het
Izumo3	A	T	4: 92,032,977 (GRCm39)	C130S	probably damaging	Het
Mei4	G	A	9: 81,809,639 (GRCm39)	E241K	possibly damaging	Het
Mocs2	T	C	13: 114,961,120 (GRCm39)	V39A	probably benign	Het
Mroh2b	G	A	15: 4,974,572 (GRCm39)	R1184H	probably benign	Het
Msh3	T	C	13: 92,436,783 (GRCm39)	Q509R	probably null	Het
Myh8	T	C	11: 67,192,497 (GRCm39)	W1459R	probably damaging	Het
Mypop	T	A	7: 18,734,918 (GRCm39)		probably benign	Het
Ndc1	C	A	4: 107,225,293 (GRCm39)	T3K	probably damaging	Het
Nf1	A	C	11: 79,331,749 (GRCm39)	M695L	probably benign	Het
Nup50l	A	G	6: 96,141,793 (GRCm39)	M417T	probably benign	Het
Nutm2	C	A	13: 50,623,955 (GRCm39)	D217E	possibly damaging	Het
Or52a20	T	C	7: 103,365,858 (GRCm39)	I19T	probably damaging	Het
Or5b122	A	G	19: 13,562,994 (GRCm39)	T109A	probably benign	Het
Pde6c	C	A	19: 38,129,940 (GRCm39)	D283E	probably damaging	Het
Phldb2	A	G	16: 45,591,142 (GRCm39)		probably benign	Het
Pigt	G	C	2: 164,349,419 (GRCm39)	R574P	probably damaging	Het
Pkd1	T	C	17: 24,796,500 (GRCm39)	I2354T	possibly damaging	Het
Prdm15	T	C	16: 97,640,506 (GRCm39)	E27G	probably damaging	Het
Ptpn14	A	G	1: 189,597,709 (GRCm39)	I1140V	probably benign	Het
Rfx7	T	C	9: 72,519,071 (GRCm39)	S258P	probably damaging	Het
Rnf17	G	T	14: 56,730,822 (GRCm39)	G1209C	probably damaging	Het
S1pr4	C	T	10: 81,335,225 (GRCm39)		probably null	Het
Scml2	G	T	X: 160,014,442 (GRCm39)	E566D	possibly damaging	Het
Serpinb1b	T	A	13: 33,277,646 (GRCm39)	V293E	possibly damaging	Het
Serpinb9b	T	C	13: 33,222,112 (GRCm39)		probably null	Het
Sez6l	A	C	5: 112,622,915 (GRCm39)	I212S	probably damaging	Het
Son	T	C	16: 91,454,552 (GRCm39)	S1100P	probably damaging	Het
Spag9	G	A	11: 93,939,365 (GRCm39)	R98H	probably damaging	Het
Spata31e2	A	T	1: 26,723,511 (GRCm39)	H556Q	possibly damaging	Het
St3gal5	T	C	6: 72,119,272 (GRCm39)	L128P	probably benign	Het
Stra6	A	T	9: 58,059,166 (GRCm39)	M510L	probably benign	Het
Stxbp5l	A	G	16: 37,028,473 (GRCm39)	V530A	probably benign	Het
Tatdn1	A	G	15: 58,793,039 (GRCm39)		probably benign	Het
Tbc1d8	A	G	1: 39,430,206 (GRCm39)	S466P	probably benign	Het
Tmem199	A	T	11: 78,399,152 (GRCm39)	M175K	possibly damaging	Het
Trmt12	A	G	15: 58,744,764 (GRCm39)	E54G	probably benign	Het
Usp37	G	T	1: 74,532,163 (GRCm39)	Q77K	possibly damaging	Het
Vezf1	A	G	11: 87,967,125 (GRCm39)	I301V	possibly damaging	Het
Vmn1r34	T	G	6: 66,613,932 (GRCm39)	M269L	probably benign	Het
Wdr93	C	A	7: 79,421,257 (GRCm39)		probably null	Het
Wnk2	T	C	13: 49,214,370 (GRCm39)	D644G	probably damaging	Het
Zc3h13	C	T	14: 75,574,923 (GRCm39)	R1591*	probably null	Het
Zfp131	G	A	13: 120,230,316 (GRCm39)	L371F	probably damaging	Het
Zfp180	T	A	7: 23,804,049 (GRCm39)	V156D	probably benign	Het
Zfp646	G	T	7: 127,479,359 (GRCm39)		probably null	Het
Zscan12	C	A	13: 21,550,813 (GRCm39)	T144K	probably benign	Het

Other mutations in Rdx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TTGCAATAGGCCAAGCCTGAGTCC -3'
(R):5'- GCACACAATAGCACGCACATGATGG -3'

Sequencing Primer
(F):5'- CATGGGAAGACTAGCTCAAAAAC -3'
(R):5'- acagtaaggagtggaaacagg -3'

Posted On

2014-04-24