Mutagenetix > Incidental Mutation

Incidental Mutation 'R1688:Rdx'

189497

Institutional Source

Beutler Lab

Gene Symbol

Rdx

Ensembl Gene

ENSMUSG00000032050

Gene Name

radixin

Synonyms

MMRRC Submission

039721-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1688 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51958450-52000038 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 51972211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 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

SMART Domains

Protein: ENSMUSP00000055303
Gene: ENSMUSG00000032050

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (71/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 61,002,695 (GRCm39)	T20A	probably benign	Het
Acaca	T	G	11: 84,129,722 (GRCm39)	V359G	probably damaging	Het
Adgb	G	A	10: 10,226,061 (GRCm39)	R1359*	probably null	Het
Aggf1	T	C	13: 95,501,275 (GRCm39)	E369G	probably damaging	Het
Alkbh8	T	A	9: 3,382,765 (GRCm39)	D418E	probably damaging	Het
Alox8	T	C	11: 69,080,732 (GRCm39)	D203G	probably benign	Het
Ank	A	G	15: 27,557,320 (GRCm39)	D168G	probably damaging	Het
Ap5m1	A	G	14: 49,318,291 (GRCm39)		probably null	Het
Arhgap45	A	G	10: 79,864,929 (GRCm39)	Y964C	probably damaging	Het
Arhgef2	A	G	3: 88,547,607 (GRCm39)	D571G	probably benign	Het
Bdh2	A	T	3: 135,007,399 (GRCm39)	Y223F	possibly damaging	Het
Bin1	T	C	18: 32,552,988 (GRCm39)		probably benign	Het
Bin1	G	A	18: 32,558,025 (GRCm39)		probably benign	Het
Cacna1g	T	A	11: 94,316,779 (GRCm39)	M1514L	possibly damaging	Het
Cd109	T	A	9: 78,612,373 (GRCm39)	F1253L	probably benign	Het
Cfap57	T	A	4: 118,426,843 (GRCm39)	E1065V	probably null	Het
Chmp2b	T	C	16: 65,347,922 (GRCm39)	N14S	probably benign	Het
Cplane1	T	C	15: 8,258,093 (GRCm39)	V2113A	probably benign	Het
Crybg1	A	T	10: 43,849,794 (GRCm39)	F1660L	probably damaging	Het
Cyp2c37	T	G	19: 39,982,887 (GRCm39)		probably null	Het
Daam1	A	T	12: 71,993,820 (GRCm39)	I408F	unknown	Het
Dsc3	T	A	18: 20,099,284 (GRCm39)	D744V	probably damaging	Het
Eprs1	T	C	1: 185,117,093 (GRCm39)	F379L	probably damaging	Het
Ewsr1	G	T	11: 5,022,870 (GRCm39)	D417E	unknown	Het
Eya4	A	T	10: 22,999,759 (GRCm39)	N424K	probably damaging	Het
Gm9312	A	C	12: 24,301,920 (GRCm39)		noncoding transcript	Het
Havcr2	T	C	11: 46,370,191 (GRCm39)	I206T	probably damaging	Het
Igfbp2	T	C	1: 72,864,125 (GRCm39)		probably null	Het
Ikzf2	T	C	1: 69,581,439 (GRCm39)	K196R	possibly damaging	Het
Il12rb1	G	A	8: 71,272,046 (GRCm39)	G587R	probably damaging	Het
Immt	A	T	6: 71,833,995 (GRCm39)	H208L	probably damaging	Het
Kcnq2	C	T	2: 180,728,826 (GRCm39)	V540I	probably damaging	Het
Klk1b8	T	A	7: 43,595,229 (GRCm39)		probably benign	Het
Mc2r	T	A	18: 68,541,090 (GRCm39)	I68F	possibly damaging	Het
Neil3	T	C	8: 54,054,069 (GRCm39)	E320G	probably damaging	Het
Nell2	T	C	15: 95,329,494 (GRCm39)	T276A	probably damaging	Het
Nphp3	T	C	9: 103,880,323 (GRCm39)	L115P	probably damaging	Het
Nras	T	C	3: 102,967,689 (GRCm39)	L95P	probably benign	Het
Ogt	G	A	X: 100,699,296 (GRCm39)	V190I	probably damaging	Het
Or11h6	A	T	14: 50,880,705 (GRCm39)	K322N	probably benign	Het
Or5t17	A	G	2: 86,832,730 (GRCm39)	Y139C	probably benign	Het
P2ry6	T	A	7: 100,587,591 (GRCm39)	H256L	probably damaging	Het
Pcbp4	T	C	9: 106,338,533 (GRCm39)	S153P	probably damaging	Het
Pclo	T	C	5: 14,838,507 (GRCm39)		probably null	Het
Per2	A	G	1: 91,351,551 (GRCm39)	L985P	probably damaging	Het
Pgap6	C	T	17: 26,337,882 (GRCm39)	A422V	possibly damaging	Het
Phip	T	C	9: 82,753,710 (GRCm39)	N1678S	probably benign	Het
Pkd1l3	A	G	8: 110,350,450 (GRCm39)	S432G	probably benign	Het
Plin4	T	A	17: 56,416,363 (GRCm39)	D47V	possibly damaging	Het
Ppp2cb	A	G	8: 34,105,480 (GRCm39)	I163M	probably benign	Het
Ptpdc1	T	C	13: 48,739,700 (GRCm39)	E577G	probably benign	Het
Ptprd	G	T	4: 75,900,921 (GRCm39)	P1063T	probably damaging	Het
Ptpru	T	C	4: 131,514,656 (GRCm39)	D866G	probably benign	Het
Rgsl1	C	T	1: 153,680,422 (GRCm39)	R760H	probably damaging	Het
Rhno1	A	G	6: 128,334,897 (GRCm39)	V142A	probably benign	Het
Sema5a	C	T	15: 32,669,570 (GRCm39)	T698I	probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Slc22a3	A	T	17: 12,652,694 (GRCm39)	M350K	probably damaging	Het
Spata31d1b	T	A	13: 59,863,274 (GRCm39)	S141T	possibly damaging	Het
Tada2a	T	C	11: 83,975,585 (GRCm39)		probably null	Het
Tspan10	A	G	11: 120,333,608 (GRCm39)	M2V	probably damaging	Het
Ttll11	T	C	2: 35,685,391 (GRCm39)	T566A	probably damaging	Het
Vwa8	A	G	14: 79,438,543 (GRCm39)	Q1872R	possibly damaging	Het
Zfp605	T	A	5: 110,276,907 (GRCm39)	I675N	possibly damaging	Het
Zkscan8	A	T	13: 21,704,324 (GRCm39)	N538K	possibly damaging	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
R1605:Rdx	UTSW	9	51,974,891 (GRCm39)	missense	probably damaging	1.00
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'- CGCCCAAGACTTTTGAGTGTGAACC -3'
(R):5'- TTGTCAGTATCACTGTCACGGCATC -3'

Sequencing Primer
(F):5'- GGACACAGTGTCACTTGTAAC -3'
(R):5'- agaggaaaccaagagcaaaatg -3'

Posted On

2014-05-14