Mutagenetix > Incidental Mutation

Incidental Mutation 'R6564:Ezr'

522383

Institutional Source

Beutler Lab

Gene Symbol

Ezr

Ensembl Gene

ENSMUSG00000052397

Gene Name

ezrin

Synonyms

Vil2, cytovillin, ezrin, p81

MMRRC Submission

044688-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6564 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7005530-7050179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 7010246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 268 (V268M)

Ref Sequence

ENSEMBL: ENSMUSP00000063734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064234] [ENSMUST00000160483]

AlphaFold

P26040

Predicted Effect

probably damaging
Transcript: ENSMUST00000064234
AA Change: V268M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063734
Gene: ENSMUSG00000052397
AA Change: V268M

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

noncoding transcript
Transcript: ENSMUST00000131131

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: ENSMUST00000231743

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.9%

Validation Efficiency

98% (56/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,622,613 (GRCm39)		probably null	Het
4931429L15Rik	C	A	9: 46,218,202 (GRCm39)	D179Y	probably damaging	Het
Abca1	A	T	4: 53,034,031 (GRCm39)	L2233Q	possibly damaging	Het
Abca12	T	A	1: 71,349,009 (GRCm39)	E834V	possibly damaging	Het
Abcc9	T	C	6: 142,548,834 (GRCm39)	Y1318C	probably damaging	Het
Adam15	C	A	3: 89,254,519 (GRCm39)	R121L	possibly damaging	Het
Afdn	T	A	17: 14,116,351 (GRCm39)	M1588K	probably benign	Het
Akap9	T	C	5: 4,078,491 (GRCm39)	S1849P	probably damaging	Het
Aoc1l1	T	C	6: 48,954,509 (GRCm39)	V549A	probably benign	Het
Bag6	T	C	17: 35,359,347 (GRCm39)	S213P	probably damaging	Het
Bpifb9a	T	C	2: 154,102,098 (GRCm39)	V65A	probably benign	Het
Chn1	T	A	2: 73,448,385 (GRCm39)	I203F	probably damaging	Het
Crnkl1	T	A	2: 145,770,165 (GRCm39)	E226V	possibly damaging	Het
Cspg4	A	G	9: 56,797,442 (GRCm39)	E1302G	probably benign	Het
Dnah5	G	T	15: 28,367,891 (GRCm39)	A2759S	probably benign	Het
Dtx1	T	A	5: 120,833,082 (GRCm39)	T119S	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fbxl15	T	C	19: 46,317,777 (GRCm39)	V153A	probably damaging	Het
Fkbpl	C	A	17: 34,865,240 (GRCm39)	A336E	probably benign	Het
Gsg1l2	A	G	11: 67,677,330 (GRCm39)	T200A	possibly damaging	Het
H2ax	T	C	9: 44,246,209 (GRCm39)	Y51H	probably damaging	Het
Ifi213	A	C	1: 173,422,862 (GRCm39)	M1R	probably null	Het
Kcnt1	A	C	2: 25,801,063 (GRCm39)	D1045A	probably benign	Het
Kdm4a	C	A	4: 118,034,636 (GRCm39)	A32S	probably benign	Het
Klkb1	A	T	8: 45,726,671 (GRCm39)	V444E	probably damaging	Het
Mccc1	T	C	3: 36,030,825 (GRCm39)	T414A	probably damaging	Het
Miga1	A	C	3: 151,990,959 (GRCm39)	N367K	probably damaging	Het
Mmp7	A	G	9: 7,695,185 (GRCm39)	D49G	probably benign	Het
Nlrp1a	A	G	11: 71,014,398 (GRCm39)	L284P	probably damaging	Het
Or7g33	G	A	9: 19,448,506 (GRCm39)	T240I	possibly damaging	Het
Or9s15	T	C	1: 92,524,285 (GRCm39)	S15P	probably benign	Het
Pbld1	T	A	10: 62,907,806 (GRCm39)	I224N	possibly damaging	Het
Pih1d1	A	T	7: 44,809,243 (GRCm39)	R276W	probably damaging	Het
Plekhg1	G	T	10: 3,914,153 (GRCm39)	V1292L	probably damaging	Het
Prex2	A	G	1: 11,171,285 (GRCm39)		probably null	Het
Rbm6	T	C	9: 107,710,697 (GRCm39)	Y498C	probably damaging	Het
Reps1	T	A	10: 17,998,140 (GRCm39)		probably null	Het
Ruvbl1	T	A	6: 88,456,208 (GRCm39)	I154N	possibly damaging	Het
Slc4a5	T	G	6: 83,257,042 (GRCm39)	F616V	possibly damaging	Het
Spag5	A	T	11: 78,206,401 (GRCm39)	T798S	probably damaging	Het
Spam1	T	A	6: 24,796,355 (GRCm39)	I102K	possibly damaging	Het
Sptbn2	C	A	19: 4,782,052 (GRCm39)	F430L	probably damaging	Het
Svs3a	T	A	2: 164,131,270 (GRCm39)	I21K	probably damaging	Het
Tet3	T	A	6: 83,363,052 (GRCm39)	I842L	possibly damaging	Het
Tlr2	T	A	3: 83,745,002 (GRCm39)	K360N	probably benign	Het
Tmem45b	C	G	9: 31,339,301 (GRCm39)	W138S	probably damaging	Het
Tpgs2	T	C	18: 25,291,344 (GRCm39)	E40G	probably damaging	Het
Traj40	T	C	14: 54,415,399 (GRCm39)		probably benign	Het
Trpm5	A	G	7: 142,626,507 (GRCm39)	S125P	probably damaging	Het
Ttc3	G	T	16: 94,243,470 (GRCm39)	C1158F	probably damaging	Het
Tubg1	T	C	11: 101,011,715 (GRCm39)	I74T	probably damaging	Het
Vav2	A	T	2: 27,169,197 (GRCm39)		probably null	Het
Wbp4	G	T	14: 79,704,868 (GRCm39)	H201N	probably damaging	Het
Wdhd1	A	G	14: 47,485,499 (GRCm39)	S821P	probably benign	Het
Wsb2	A	T	5: 117,508,625 (GRCm39)		probably null	Het
Zic5	A	G	14: 122,696,833 (GRCm39)	L594P	unknown	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
R1669:Ezr	UTSW	17	7,006,712 (GRCm39)	missense	probably damaging	1.00
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
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'- TGAGCAGACACTTGAGGATG -3'
(R):5'- CTTGACCCACTGAGCGTATATTC -3'

Sequencing Primer
(F):5'- ACACTTGAGGATGCAGCTGTC -3'
(R):5'- CTTAGGAAAGAAGGTCGTC -3'

Posted On

2018-06-06