Mutagenetix > Incidental Mutation

Incidental Mutation 'R1669:Ezr'

187494

Institutional Source

Beutler Lab

Gene Symbol

Ezr

Ensembl Gene

ENSMUSG00000052397

Gene Name

ezrin

Synonyms

Vil2, cytovillin, ezrin, p81

MMRRC Submission

039705-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1669 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7005530-7050179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7006712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 584 (E584G)

Ref Sequence

ENSEMBL: ENSMUSP00000063734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064234] [ENSMUST00000097430] [ENSMUST00000159394] [ENSMUST00000159880] [ENSMUST00000160483] [ENSMUST00000161118] [ENSMUST00000162635]

AlphaFold

P26040

Predicted Effect

probably damaging
Transcript: ENSMUST00000064234
AA Change: E584G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000063734
Gene: ENSMUSG00000052397
AA Change: E584G

Domain	Start	End	E-Value	Type
B41	1	206	7.74e-79	SMART
FERM_C	210	299	1.34e-35	SMART
Pfam:ERM	338	586	2.3e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097430

SMART Domains

Protein: ENSMUSP00000095041
Gene: ENSMUSG00000041831

Domain	Start	End	E-Value	Type
Pfam:FYVE_2	8	124	6e-25	PFAM
low complexity region	162	170	N/A	INTRINSIC
C2	321	426	9.17e-15	SMART
C2	478	601	1.92e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131131

Predicted Effect

probably benign
Transcript: ENSMUST00000159394

SMART Domains

Protein: ENSMUSP00000124146
Gene: ENSMUSG00000041831

Domain	Start	End	E-Value	Type
Pfam:FYVE_2	8	124	3.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159880

SMART Domains

Protein: ENSMUSP00000125469
Gene: ENSMUSG00000041831

Domain	Start	End	E-Value	Type
C2	116	221	9.17e-15	SMART
C2	273	396	1.92e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160483

SMART Domains

Protein: ENSMUSP00000123996
Gene: ENSMUSG00000041831

Domain	Start	End	E-Value	Type
C2	126	231	9.17e-15	SMART
C2	283	406	1.92e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161118

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231743

Predicted Effect

probably benign
Transcript: ENSMUST00000162635

SMART Domains

Protein: ENSMUSP00000124496
Gene: ENSMUSG00000041831

Domain	Start	End	E-Value	Type
Pfam:FYVE_2	8	124	4.3e-27	PFAM
low complexity region	158	176	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232362

Meta Mutation Damage Score

0.8370

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (85/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The cytoplasmic peripheral membrane protein encoded by this gene functions as a protein-tyrosine kinase substrate in microvilli. As a member of the ERM protein family, this protein serves as an intermediate between the plasma membrane and the actin cytoskeleton. This protein plays a key role in cell surface structure adhesion, migration and organization, and it has been implicated in various human cancers. A pseudogene located on chromosome 3 has been identified for this gene. Alternatively spliced variants have also been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display postnatal lethality with abnormal intestinal villi morphology. Mice homozygous for a knock-down allele exhibit growth retardation, partial postnatal lethality, achlorhydria, and abnormal gastric parietal cell morphology and response to histamine stimulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano10	A	C	9: 122,086,249 (GRCm39)	L258R	possibly damaging	Het
Ap3d1	A	G	10: 80,546,670 (GRCm39)		probably benign	Het
Aplp2	G	T	9: 31,079,029 (GRCm39)		probably benign	Het
Arhgap11a	T	C	2: 113,672,257 (GRCm39)	D237G	possibly damaging	Het
Arhgef4	A	T	1: 34,771,239 (GRCm39)	H1182L	possibly damaging	Het
Ash1l	G	A	3: 88,974,549 (GRCm39)		probably null	Het
Bicdl1	C	A	5: 115,794,075 (GRCm39)	V224L	possibly damaging	Het
Cacna1h	C	A	17: 25,602,445 (GRCm39)	V1422L	probably damaging	Het
Card10	T	C	15: 78,678,153 (GRCm39)	E365G	probably benign	Het
Cd180	C	T	13: 102,841,998 (GRCm39)	T348I	probably damaging	Het
Cds2	T	A	2: 132,137,439 (GRCm39)		probably null	Het
Chaf1a	C	A	17: 56,370,339 (GRCm39)	D601E	probably benign	Het
Coprs	C	T	8: 13,935,704 (GRCm39)	W12*	probably null	Het
Cpsf3	T	A	12: 21,355,332 (GRCm39)	M424K	probably damaging	Het
Cxcl13	T	A	5: 96,106,600 (GRCm39)	N57K	probably damaging	Het
Dact1	C	T	12: 71,365,547 (GRCm39)	T776M	probably damaging	Het
Depdc1a	A	G	3: 159,228,561 (GRCm39)	K438E	probably benign	Het
Dop1b	T	A	16: 93,566,548 (GRCm39)	S992T	probably damaging	Het
Dusp11	A	T	6: 85,927,008 (GRCm39)	H202Q	probably benign	Het
F830104G03Rik	A	G	3: 56,797,998 (GRCm39)	V6A	unknown	Het
Fam227a	G	A	15: 79,504,878 (GRCm39)		probably null	Het
Gapvd1	T	G	2: 34,620,694 (GRCm39)		probably null	Het
Gm10267	T	C	18: 44,290,367 (GRCm39)	R47G	probably damaging	Het
Hectd3	T	A	4: 116,856,840 (GRCm39)	D462E	probably damaging	Het
Hfe	A	T	13: 23,890,110 (GRCm39)	L133*	probably null	Het
Hpcal4	T	C	4: 123,082,869 (GRCm39)	F72L	probably damaging	Het
Itgb4	G	A	11: 115,882,156 (GRCm39)	R825H	probably benign	Het
Kcnh8	T	A	17: 53,200,996 (GRCm39)	Y477N	probably damaging	Het
Kctd1	T	C	18: 15,195,517 (GRCm39)	N369D	possibly damaging	Het
Kdm1b	C	T	13: 47,222,024 (GRCm39)	R488C	probably damaging	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klra8	A	T	6: 130,092,592 (GRCm39)	C236*	probably null	Het
Lca5l	T	C	16: 95,961,008 (GRCm39)	R485G	possibly damaging	Het
Lrrc2	A	G	9: 110,810,718 (GRCm39)	T363A	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,818,672 (GRCm39)	G1314D	possibly damaging	Het
Mmp10	A	T	9: 7,505,526 (GRCm39)		probably null	Het
Mmp13	A	G	9: 7,277,926 (GRCm39)	D273G	probably benign	Het
Morc2a	G	A	11: 3,625,885 (GRCm39)	V162M	probably benign	Het
Msh4	C	T	3: 153,582,357 (GRCm39)	R417Q	possibly damaging	Het
Nedd9	A	T	13: 41,465,270 (GRCm39)	V790E	probably damaging	Het
Nlgn1	C	A	3: 25,490,298 (GRCm39)	L476F	probably damaging	Het
Nox4	C	A	7: 86,945,097 (GRCm39)	Q118K	probably benign	Het
Nxf1	A	G	19: 8,749,495 (GRCm39)	T131A	possibly damaging	Het
Oog3	C	A	4: 143,885,008 (GRCm39)	R309S	probably benign	Het
Oosp3	C	T	19: 11,678,378 (GRCm39)		probably benign	Het
Or10a3	T	A	7: 108,479,920 (GRCm39)	T298S	probably benign	Het
Or2a7	T	A	6: 43,151,755 (GRCm39)	S278R	probably damaging	Het
Or2w6	A	T	13: 21,843,456 (GRCm39)	S12R	possibly damaging	Het
Or4c126	T	A	2: 89,824,144 (GRCm39)		probably null	Het
Or51a42	A	T	7: 103,708,516 (GRCm39)	S98T	probably benign	Het
Or5b97	A	T	19: 12,878,652 (GRCm39)	I164K	possibly damaging	Het
P2ry6	A	G	7: 100,587,630 (GRCm39)	V243A	probably damaging	Het
Pgc	C	A	17: 48,044,715 (GRCm39)	P321T	probably damaging	Het
Pramel22	T	G	4: 143,380,916 (GRCm39)	E369A	possibly damaging	Het
Prkd1	G	A	12: 50,441,709 (GRCm39)	H277Y	probably damaging	Het
Prkdc	T	A	16: 15,551,922 (GRCm39)	S2043T	probably damaging	Het
Rasal3	T	C	17: 32,622,072 (GRCm39)	N96D	possibly damaging	Het
Rnf4	T	C	5: 34,508,624 (GRCm39)	F162S	probably damaging	Het
Ros1	A	T	10: 52,037,907 (GRCm39)	N421K	probably damaging	Het
Rtn4rl1	A	G	11: 75,156,753 (GRCm39)	D395G	probably benign	Het
Scn8a	T	G	15: 100,909,001 (GRCm39)	V823G	probably damaging	Het
Sema3d	T	A	5: 12,558,051 (GRCm39)		probably benign	Het
Slc12a2	T	C	18: 58,037,307 (GRCm39)	I501T	probably damaging	Het
Slc12a7	C	T	13: 73,943,232 (GRCm39)	T382I	probably benign	Het
Slc16a12	T	A	19: 34,657,781 (GRCm39)	I41L	probably benign	Het
Slc1a1	C	A	19: 28,889,194 (GRCm39)	T489K	probably benign	Het
Slc24a3	C	T	2: 145,455,512 (GRCm39)	P467L	probably damaging	Het
Slco1a8	T	A	6: 141,933,415 (GRCm39)	I457F	probably benign	Het
Snai2	A	T	16: 14,524,908 (GRCm39)	Y138F	possibly damaging	Het
Sorcs1	A	C	19: 50,463,860 (GRCm39)	Y197D	probably damaging	Het
Sppl2a	T	A	2: 126,759,714 (GRCm39)		probably benign	Het
Srgap3	G	A	6: 112,699,865 (GRCm39)	P1038S	probably benign	Het
Ttn	T	C	2: 76,554,807 (GRCm39)	E30699G	probably damaging	Het
Vmn2r124	T	A	17: 18,283,206 (GRCm39)	M300K	possibly damaging	Het
Vwf	T	C	6: 125,624,869 (GRCm39)	S1873P	possibly damaging	Het
Wrap73	A	G	4: 154,240,588 (GRCm39)	D360G	probably damaging	Het
Zfp366	T	C	13: 99,366,069 (GRCm39)	M410T	probably damaging	Het
Zfp608	C	T	18: 55,120,811 (GRCm39)	V259I	probably benign	Het
Zfp69	C	T	4: 120,804,695 (GRCm39)		probably benign	Het
Zfp995	T	C	17: 22,098,945 (GRCm39)	T430A	probably benign	Het

Other mutations in Ezr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Ezr	APN	17	7,009,888 (GRCm39)	unclassified	probably benign
IGL02871:Ezr	APN	17	7,009,789 (GRCm39)	nonsense	probably null
R0020:Ezr	UTSW	17	7,010,126 (GRCm39)	missense	probably damaging	1.00
R0020:Ezr	UTSW	17	7,010,126 (GRCm39)	missense	probably damaging	1.00
R0277:Ezr	UTSW	17	7,022,164 (GRCm39)	nonsense	probably null
R0323:Ezr	UTSW	17	7,022,164 (GRCm39)	nonsense	probably null
R0930:Ezr	UTSW	17	7,021,398 (GRCm39)	nonsense	probably null
R1497:Ezr	UTSW	17	7,010,107 (GRCm39)	missense	probably benign	0.07
R1801:Ezr	UTSW	17	7,009,771 (GRCm39)	missense	possibly damaging	0.62
R2078:Ezr	UTSW	17	7,050,041 (GRCm39)	start codon destroyed	probably null	0.23
R4250:Ezr	UTSW	17	7,022,196 (GRCm39)	missense	probably damaging	1.00
R4448:Ezr	UTSW	17	7,020,473 (GRCm39)	missense	probably benign	0.01
R4610:Ezr	UTSW	17	7,007,121 (GRCm39)	missense	possibly damaging	0.71
R4691:Ezr	UTSW	17	7,026,961 (GRCm39)	missense	probably benign
R4736:Ezr	UTSW	17	7,008,975 (GRCm39)	missense	probably benign	0.42
R5327:Ezr	UTSW	17	7,020,448 (GRCm39)	missense	probably damaging	1.00
R6564:Ezr	UTSW	17	7,010,246 (GRCm39)	missense	probably damaging	0.99
R7863:Ezr	UTSW	17	7,008,863 (GRCm39)	missense	probably damaging	1.00
R8788:Ezr	UTSW	17	7,021,392 (GRCm39)	missense	probably benign	0.29
R8910:Ezr	UTSW	17	7,023,299 (GRCm39)	missense	probably damaging	1.00
R9712:Ezr	UTSW	17	7,020,394 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGCTGTCCCAGTGACAATGAATC -3'
(R):5'- AGACCCTGAGCAATGAGTTGTCCC -3'

Sequencing Primer
(F):5'- TGCTCCAAACAGGAAGTGATTC -3'
(R):5'- AATGAGTTGTCCCAGGCCC -3'

Posted On

2014-05-09