Mutagenetix > Incidental Mutation

Incidental Mutation 'R1801:Ezr'

203177

Institutional Source

Beutler Lab

Gene Symbol

Ezr

Ensembl Gene

ENSMUSG00000052397

Gene Name

ezrin

Synonyms

Vil2, cytovillin, ezrin, p81

MMRRC Submission

039831-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1801 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

7005530-7050179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7009771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 358 (T358A)

Ref Sequence

ENSEMBL: ENSMUSP00000063734 (fasta)

Gene Model

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

AlphaFold

P26040

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064234
AA Change: T358A

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000063734
Gene: ENSMUSG00000052397
AA Change: T358A

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.5%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,903,230 (GRCm39)	E362G	probably damaging	Het
Abcc5	T	C	16: 20,157,637 (GRCm39)	M1307V	probably benign	Het
Adam34l	A	T	8: 44,078,954 (GRCm39)	C423*	probably null	Het
Adamts9	A	G	6: 92,840,357 (GRCm39)	V1142A	probably benign	Het
Ano10	T	C	9: 122,082,096 (GRCm39)	N525S	probably damaging	Het
Bpifa2	T	C	2: 153,853,424 (GRCm39)		probably null	Het
C7	C	T	15: 5,041,503 (GRCm39)	V468I	possibly damaging	Het
Carf	A	T	1: 60,180,664 (GRCm39)	H362L	possibly damaging	Het
Ccdc171	A	C	4: 83,465,132 (GRCm39)	I37L	probably benign	Het
Ccdc182	T	C	11: 88,185,016 (GRCm39)	L32P	possibly damaging	Het
Celsr3	A	T	9: 108,711,825 (GRCm39)	D1678V	possibly damaging	Het
Col7a1	A	T	9: 108,790,065 (GRCm39)	Y920F	unknown	Het
Cpsf3	T	C	12: 21,363,791 (GRCm39)	V627A	probably benign	Het
D7Ertd443e	A	G	7: 133,871,941 (GRCm39)	M640T	probably damaging	Het
Ddi2	T	C	4: 141,411,283 (GRCm39)	D543G	probably damaging	Het
Dnah9	T	C	11: 65,846,123 (GRCm39)	N2972D	probably damaging	Het
Dnajc18	T	C	18: 35,813,857 (GRCm39)	D304G	probably damaging	Het
Epg5	T	C	18: 78,026,705 (GRCm39)	V1232A	possibly damaging	Het
Filip1	A	G	9: 79,723,128 (GRCm39)	S1164P	probably damaging	Het
Gmip	T	C	8: 70,267,127 (GRCm39)	V341A	probably benign	Het
Gnb3	A	C	6: 124,812,599 (GRCm39)	F286V	probably benign	Het
Gpatch2	T	A	1: 186,958,028 (GRCm39)	S128T	probably benign	Het
Gpr87	T	C	3: 59,086,813 (GRCm39)	R231G	possibly damaging	Het
Hip1r	G	A	5: 124,136,871 (GRCm39)	R613Q	probably benign	Het
Hsd3b7	T	C	7: 127,402,206 (GRCm39)	Y284H	possibly damaging	Het
Il1rap	A	T	16: 26,517,625 (GRCm39)	D275V	probably damaging	Het
Il4	G	T	11: 53,509,365 (GRCm39)	H23Q	possibly damaging	Het
Kit	A	G	5: 75,809,053 (GRCm39)	Y749C	probably damaging	Het
Klb	A	G	5: 65,506,578 (GRCm39)	K275R	probably null	Het
Klhl12	G	T	1: 134,416,808 (GRCm39)	R510L	probably damaging	Het
Lrrc8b	A	G	5: 105,628,689 (GRCm39)	Y345C	probably damaging	Het
Med15	T	C	16: 17,498,599 (GRCm39)	T98A	possibly damaging	Het
Mmp1a	T	A	9: 7,475,391 (GRCm39)	Y387N	probably damaging	Het
Myrf	C	A	19: 10,191,555 (GRCm39)	V928L	probably benign	Het
Nr1d1	T	C	11: 98,662,325 (GRCm39)	K134E	probably damaging	Het
Nrxn3	A	T	12: 90,250,356 (GRCm39)	D305V	probably damaging	Het
Obscn	A	C	11: 58,889,147 (GRCm39)	S7542A	unknown	Het
Or4a27	T	A	2: 88,559,608 (GRCm39)	I112F	probably damaging	Het
Pak4	G	A	7: 28,264,615 (GRCm39)	R96C	probably damaging	Het
Pde6b	A	T	5: 108,575,713 (GRCm39)	D691V	possibly damaging	Het
Pdss2	A	G	10: 43,221,601 (GRCm39)	E171G	probably benign	Het
Pdzd2	C	T	15: 12,387,740 (GRCm39)	V873I	possibly damaging	Het
Plb1	A	T	5: 32,450,587 (GRCm39)	D376V	probably damaging	Het
Plekhg1	T	C	10: 3,913,904 (GRCm39)	Y1209H	probably damaging	Het
Prickle2	A	G	6: 92,393,885 (GRCm39)	C263R	probably damaging	Het
Psma2	A	T	13: 14,798,190 (GRCm39)	Y104F	probably benign	Het
Ptger4	T	A	15: 5,272,281 (GRCm39)	M113L	possibly damaging	Het
Rgs10	T	G	7: 128,006,201 (GRCm39)	D17A	possibly damaging	Het
Rpap3	A	G	15: 97,592,090 (GRCm39)	S189P	possibly damaging	Het
Rsbn1	T	C	3: 103,822,188 (GRCm39)	L102P	probably damaging	Het
Ryr2	T	C	13: 11,610,167 (GRCm39)	S655G	probably benign	Het
Samd4b	A	T	7: 28,106,756 (GRCm39)		probably null	Het
Sema4a	C	T	3: 88,344,056 (GRCm39)	D732N	probably benign	Het
Sh3bp5l	A	G	11: 58,237,177 (GRCm39)	D378G	probably benign	Het
Sh3gl3	C	T	7: 81,933,327 (GRCm39)	T230I	possibly damaging	Het
Slc28a2b	C	T	2: 122,352,133 (GRCm39)	R324C	possibly damaging	Het
Slc5a1	A	T	5: 33,304,297 (GRCm39)	Q299L	probably damaging	Het
Ssc5d	C	A	7: 4,939,606 (GRCm39)	H681N	probably benign	Het
Sugp2	T	C	8: 70,689,360 (GRCm39)	S10P	possibly damaging	Het
Supt5	A	G	7: 28,016,639 (GRCm39)		probably null	Het
Syna	A	G	5: 134,588,943 (GRCm39)	V2A	probably benign	Het
Tcp1	T	A	17: 13,141,089 (GRCm39)	Y299*	probably null	Het
Tenm3	C	A	8: 48,729,291 (GRCm39)	V1572L	probably benign	Het
Tent4b	T	G	8: 88,977,416 (GRCm39)	V406G	probably benign	Het
Trp53rka	A	G	2: 165,333,533 (GRCm39)	S119P	probably damaging	Het
Ubr4	T	A	4: 139,179,874 (GRCm39)		probably null	Het
Uchl4	T	A	9: 64,142,757 (GRCm39)	D79E	probably benign	Het
Vmn2r17	C	A	5: 109,576,344 (GRCm39)	T405K	probably damaging	Het
Xpnpep1	A	G	19: 52,998,564 (GRCm39)	L228P	probably damaging	Het
Xrcc4	T	G	13: 90,140,698 (GRCm39)	E170D	probably damaging	Het
Zfp945	T	C	17: 23,070,736 (GRCm39)	T388A	probably damaging	Het
Zfp947	G	A	17: 22,365,443 (GRCm39)	A77V	probably benign	Het
Zkscan5	G	A	5: 145,157,015 (GRCm39)	G433R	probably damaging	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
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'- AAGATGGCACTGCAATTGC -3'
(R):5'- CAGACACAGGCTATGGCATC -3'

Sequencing Primer
(F):5'- ATGGCACTGCAATTGCTCTGTTC -3'
(R):5'- ACAGGCTATGGCATCCCTGTG -3'

Posted On

2014-06-23