Incidental Mutation 'IGL02871:Ezr'
ID 362575
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ezr
Ensembl Gene ENSMUSG00000052397
Gene Name ezrin
Synonyms Vil2, cytovillin, ezrin, p81
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02871
Quality Score
Status
Chromosome 17
Chromosomal Location 7005530-7050179 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 7009789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 352 (Q352*)
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 null
Transcript: ENSMUST00000064234
AA Change: Q352*
SMART Domains Protein: ENSMUSP00000063734
Gene: ENSMUSG00000052397
AA Change: Q352*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:FYVE_2 8 124 3.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159880
SMART Domains Protein: ENSMUSP00000125469
Gene: ENSMUSG00000041831

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
C2 126 231 9.17e-15 SMART
C2 283 406 1.92e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161118
Predicted Effect probably benign
Transcript: ENSMUST00000162635
SMART Domains Protein: ENSMUSP00000124496
Gene: ENSMUSG00000041831

DomainStartEndE-ValueType
Pfam:FYVE_2 8 124 4.3e-27 PFAM
low complexity region 158 176 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232362
Coding Region Coverage
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl15 C A 13: 114,291,374 (GRCm39) H179Q probably benign Het
Bin3 T A 14: 70,366,354 (GRCm39) C72* probably null Het
Brca2 C T 5: 150,466,017 (GRCm39) T1927I probably benign Het
Cap2 A G 13: 46,678,968 (GRCm39) D26G probably benign Het
Casz1 T G 4: 149,028,776 (GRCm39) S1074A possibly damaging Het
Chd5 C T 4: 152,461,142 (GRCm39) P1244L probably damaging Het
Exosc9 A G 3: 36,619,430 (GRCm39) N408S probably benign Het
Fbxl4 T A 4: 22,386,213 (GRCm39) D273E probably benign Het
Gm3269 A T 14: 16,028,154 (GRCm39) N193I probably damaging Het
Haus8 A T 8: 71,709,138 (GRCm39) M90K probably benign Het
Igkv5-39 A T 6: 69,877,490 (GRCm39) S89T probably benign Het
Nlrp4b A C 7: 10,449,192 (GRCm39) D465A probably benign Het
Nsf A G 11: 103,752,882 (GRCm39) probably benign Het
Nt5c1b G A 12: 10,431,325 (GRCm39) M409I probably damaging Het
Or4a75 T C 2: 89,448,504 (GRCm39) I11V probably benign Het
Or4c103 T A 2: 88,513,428 (GRCm39) Y216F probably damaging Het
Or5ac17 T A 16: 59,036,737 (GRCm39) K80* probably null Het
Pga5 T C 19: 10,649,144 (GRCm39) probably benign Het
Pigk T A 3: 152,472,153 (GRCm39) I355K probably damaging Het
Prom1 T C 5: 44,187,018 (GRCm39) Y404C probably damaging Het
Ptprs T C 17: 56,754,443 (GRCm39) E199G probably damaging Het
Sec24c T C 14: 20,742,950 (GRCm39) S935P probably benign Het
Slc22a13 T C 9: 119,025,077 (GRCm39) T200A probably benign Het
Svep1 T A 4: 58,100,871 (GRCm39) I1264L probably benign Het
Tcf7l2 T A 19: 55,907,429 (GRCm39) C349S probably damaging Het
Thbs2 T C 17: 14,906,048 (GRCm39) H284R probably benign Het
Vmn2r19 C T 6: 123,313,042 (GRCm39) S704L probably damaging Het
Vmn2r50 A G 7: 9,781,714 (GRCm39) Y344H possibly damaging Het
Other mutations in Ezr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01783:Ezr APN 17 7,009,888 (GRCm39) unclassified probably benign
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
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
Posted On 2015-12-18