Mutagenetix > Incidental Mutation

Incidental Mutation 'R9377:Rdx'

709706

Institutional Source

Beutler Lab

Gene Symbol

Rdx

Ensembl Gene

ENSMUSG00000032050

Gene Name

radixin

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9377 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51958450-52000038 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51980168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 254 (K254E)

Ref Sequence

ENSEMBL: ENSMUSP00000000590 (fasta)

Gene Model

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

AlphaFold

P26043

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000590
AA Change: K254E

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000000590
Gene: ENSMUSG00000032050
AA Change: K254E

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

possibly damaging
Transcript: ENSMUST00000061352
AA Change: K254E

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000055303
Gene: ENSMUSG00000032050
AA Change: K254E

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

possibly damaging
Transcript: ENSMUST00000163153
AA Change: K254E

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128249
Gene: ENSMUSG00000032050
AA Change: K254E

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,348,273 (GRCm39)	T55A	probably benign	Het
3110070M22Rik	T	A	13: 119,624,822 (GRCm39)		probably benign	Het
Acot12	T	A	13: 91,918,221 (GRCm39)	N171K	probably benign	Het
Adam18	G	A	8: 25,104,859 (GRCm39)	Q652*	probably null	Het
Adgrv1	T	C	13: 81,705,277 (GRCm39)	E791G	probably damaging	Het
Aff1	C	T	5: 103,981,685 (GRCm39)	S608L	probably damaging	Het
Amfr	A	T	8: 94,707,018 (GRCm39)	F432L	probably damaging	Het
Ankfn1	G	A	11: 89,332,284 (GRCm39)	L421F	possibly damaging	Het
Ankrd31	T	C	13: 97,014,733 (GRCm39)	V1334A	probably benign	Het
Ascc3	C	T	10: 50,608,858 (GRCm39)	H1534Y	possibly damaging	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Atf3	T	C	1: 190,909,510 (GRCm39)	H53R	probably benign	Het
Bsn	C	A	9: 107,990,800 (GRCm39)	V1651F	probably damaging	Het
Bsn	A	T	9: 107,993,361 (GRCm39)	L797Q	probably damaging	Het
Bzw2	T	C	12: 36,180,131 (GRCm39)	D32G	probably damaging	Het
Cacna1e	A	T	1: 154,361,458 (GRCm39)	M531K	possibly damaging	Het
Cep120	A	G	18: 53,851,592 (GRCm39)	F567L	possibly damaging	Het
Cit	T	C	5: 116,084,914 (GRCm39)	I815T	probably benign	Het
Cnot6l	G	T	5: 96,276,826 (GRCm39)	Q121K	probably benign	Het
Col4a2	G	A	8: 11,483,725 (GRCm39)	G882R	probably damaging	Het
Col6a3	A	G	1: 90,743,961 (GRCm39)	F536L	probably damaging	Het
Copg2	T	A	6: 30,793,721 (GRCm39)	H394L	possibly damaging	Het
Cst13	A	G	2: 148,670,165 (GRCm39)	M112V	possibly damaging	Het
Cyp2j7	G	T	4: 96,124,786 (GRCm39)	N37K	probably benign	Het
Cyp2u1	T	A	3: 131,091,449 (GRCm39)	N357I	possibly damaging	Het
Dars1	T	C	1: 128,344,945 (GRCm39)	T4A	probably benign	Het
Dclk1	G	T	3: 55,429,374 (GRCm39)	C414F	possibly damaging	Het
Dmbt1	A	T	7: 130,694,832 (GRCm39)	Y1009F	unknown	Het
Ebf4	T	C	2: 130,148,775 (GRCm39)	Y117H	probably damaging	Het
Eif2b4	A	G	5: 31,348,500 (GRCm39)	Y196H	probably benign	Het
Enpp2	C	T	15: 54,739,080 (GRCm39)	R401H	probably damaging	Het
Epo	T	C	5: 137,484,017 (GRCm39)		probably benign	Het
Gli1	T	A	10: 127,173,359 (GRCm39)	T100S	possibly damaging	Het
Gml2	T	A	15: 74,695,957 (GRCm39)	F117Y	probably benign	Het
Hivep1	T	C	13: 42,335,403 (GRCm39)	V2314A	probably benign	Het
Hspb8	A	G	5: 116,547,487 (GRCm39)	I165T	probably damaging	Het
Itgax	A	T	7: 127,732,849 (GRCm39)	T243S	probably benign	Het
Itih4	G	T	14: 30,608,533 (GRCm39)	L16F	probably damaging	Het
Kmt5a	C	T	5: 124,578,064 (GRCm39)		probably benign	Het
Lamc1	T	C	1: 153,115,009 (GRCm39)	E1089G	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mcmbp	A	T	7: 128,317,803 (GRCm39)	N147K	probably benign	Het
Mical2	C	T	7: 111,981,246 (GRCm39)	L407F	probably benign	Het
Mybpc2	A	T	7: 44,158,999 (GRCm39)	V653D	probably benign	Het
Myo3b	G	A	2: 70,069,242 (GRCm39)	V522I	possibly damaging	Het
Nbr1	A	G	11: 101,456,590 (GRCm39)	T156A	possibly damaging	Het
Neb	T	A	2: 52,039,291 (GRCm39)		probably null	Het
Neb	T	A	2: 52,116,546 (GRCm39)	Y964F		Het
Nr2f2	T	A	7: 70,007,856 (GRCm39)	I209F	probably damaging	Het
Nwd2	A	G	5: 63,957,740 (GRCm39)	T357A	probably damaging	Het
Palld	C	T	8: 61,969,691 (GRCm39)	R1211H	unknown	Het
Pcdhb19	T	A	18: 37,632,299 (GRCm39)	V698E	probably damaging	Het
Pcdhga6	C	T	18: 37,841,570 (GRCm39)	P430L	probably damaging	Het
Piezo2	A	G	18: 63,162,156 (GRCm39)	L2225S	possibly damaging	Het
Plekhf1	A	T	7: 37,921,203 (GRCm39)	W122R	probably damaging	Het
Pold3	A	G	7: 99,732,993 (GRCm39)	S418P	possibly damaging	Het
Poldip3	T	C	15: 83,019,589 (GRCm39)	N180S	probably benign	Het
Ppp1r21	C	T	17: 88,852,815 (GRCm39)	R65*	probably null	Het
Ppp1r3d	A	T	2: 178,055,669 (GRCm39)	V111E	probably damaging	Het
Prrg4	T	C	2: 104,669,728 (GRCm39)	I130V	probably benign	Het
Psma5	A	T	3: 108,172,448 (GRCm39)	T55S	probably benign	Het
Rbm5	C	A	9: 107,627,252 (GRCm39)	A440S	probably benign	Het
Rere	A	C	4: 150,593,342 (GRCm39)	Q312P	unknown	Het
Rest	T	C	5: 77,416,128 (GRCm39)	V114A	possibly damaging	Het
Rufy4	G	T	1: 74,171,879 (GRCm39)	V201L	probably benign	Het
Scyl1	T	C	19: 5,809,023 (GRCm39)	E727G	probably benign	Het
Serpinb6b	T	A	13: 33,152,494 (GRCm39)	M1K	probably null	Het
Sgsm1	C	A	5: 113,436,741 (GRCm39)	V30F	probably damaging	Het
Skap1	A	G	11: 96,644,921 (GRCm39)	D344G	possibly damaging	Het
Slc26a7	T	C	4: 14,516,189 (GRCm39)	T547A	probably benign	Het
Slc6a3	C	A	13: 73,692,966 (GRCm39)	S195R	probably benign	Het
Sorbs1	T	C	19: 40,387,048 (GRCm39)	D6G	probably damaging	Het
Spock3	A	T	8: 63,798,746 (GRCm39)	M253L	probably damaging	Het
Ssh2	A	G	11: 77,298,974 (GRCm39)	Y107C	possibly damaging	Het
Svil	T	C	18: 5,057,294 (GRCm39)	S581P	probably benign	Het
Tbc1d14	T	C	5: 36,662,472 (GRCm39)	T553A	probably benign	Het
Tet3	T	A	6: 83,380,596 (GRCm39)	Q524L	possibly damaging	Het
Uckl1	A	T	2: 181,211,532 (GRCm39)	V456E	probably damaging	Het
Ucp2	T	C	7: 100,146,040 (GRCm39)	F4S	probably benign	Het
Vmn2r77	A	G	7: 86,444,442 (GRCm39)	I32V	probably benign	Het
Vmn2r89	T	A	14: 51,692,601 (GRCm39)	Y135N	probably benign	Het
Vtn	A	G	11: 78,390,587 (GRCm39)	E82G	probably benign	Het
Zfp758	A	G	17: 22,593,925 (GRCm39)	N137S	probably benign	Het
Zgpat	T	A	2: 181,021,646 (GRCm39)	C357*	probably null	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
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
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'- CTGAGAGTCTTGGGCTCTTAAG -3'
(R):5'- GGGTTACCTCTACTACATTTTGCAATC -3'

Sequencing Primer
(F):5'- AGATTGGTCATTCATGTAACCTGTCC -3'
(R):5'- GCAATCAATAAGTGTTGTTAATACCC -3'

Posted On

2022-04-18