Incidental Mutation 'R4448:Ezr'
ID 328860
Institutional Source Beutler Lab
Gene Symbol Ezr
Ensembl Gene ENSMUSG00000052397
Gene Name ezrin
Synonyms Vil2, cytovillin, ezrin, p81
MMRRC Submission 041709-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4448 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 7005530-7050179 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7020473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 203 (I203V)
Ref Sequence ENSEMBL: ENSMUSP00000063734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064234]
AlphaFold P26040
Predicted Effect probably benign
Transcript: ENSMUST00000064234
AA Change: I203V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000063734
Gene: ENSMUSG00000052397
AA Change: I203V

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
Meta Mutation Damage Score 0.0691 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 94% (49/52)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3930402G23Rik T A 8: 10,976,129 (GRCm39) noncoding transcript Het
A1cf A T 19: 31,923,262 (GRCm39) T513S probably benign Het
Acaca A T 11: 84,153,318 (GRCm39) I909F probably damaging Het
Adgb T C 10: 10,266,569 (GRCm39) I980V probably benign Het
Akap13 T A 7: 75,392,508 (GRCm39) F2450L probably damaging Het
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Asb8 A G 15: 98,039,211 (GRCm39) V63A possibly damaging Het
Atp6v1b2 T A 8: 69,554,674 (GRCm39) D126E probably benign Het
BC048562 T A 9: 108,315,723 (GRCm39) L43Q probably damaging Het
Ctcf A T 8: 106,406,925 (GRCm39) probably benign Het
Efs A G 14: 55,157,649 (GRCm39) S128P probably damaging Het
Epg5 T A 18: 78,005,676 (GRCm39) M722K probably damaging Het
F5 A T 1: 164,026,468 (GRCm39) N1680I possibly damaging Het
Fcna A G 2: 25,515,488 (GRCm39) F194L probably damaging Het
Fut7 A G 2: 25,314,951 (GRCm39) T70A probably benign Het
Galnt2 A G 8: 125,022,116 (GRCm39) D14G probably benign Het
Gpr4 G A 7: 18,956,926 (GRCm39) A283T probably damaging Het
Herc2 T C 7: 55,877,640 (GRCm39) L4569P probably damaging Het
Hhip C T 8: 80,770,574 (GRCm39) probably null Het
Hoxc12 A G 15: 102,846,911 (GRCm39) K268E probably damaging Het
Iqcm T C 8: 76,356,394 (GRCm39) S176P probably damaging Het
Kansl1l A G 1: 66,777,318 (GRCm39) S605P probably damaging Het
Kcnh4 A G 11: 100,646,733 (GRCm39) F198L probably benign Het
Kmt2e T C 5: 23,669,788 (GRCm39) F92L possibly damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Mycbp2 T C 14: 103,425,938 (GRCm39) I2396V possibly damaging Het
Nckap5 G A 1: 125,953,463 (GRCm39) Q1030* probably null Het
Pag1 T C 3: 9,764,526 (GRCm39) E209G probably benign Het
Pramel30 A C 4: 144,059,255 (GRCm39) H322P probably damaging Het
Pttg1 A T 11: 43,315,517 (GRCm39) probably benign Het
Rab38 T G 7: 88,139,833 (GRCm39) D167E probably benign Het
Rbm26 A T 14: 105,388,986 (GRCm39) F302I probably damaging Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Sec23b A G 2: 144,401,171 (GRCm39) N11D probably benign Het
Sipa1l1 G A 12: 82,388,524 (GRCm39) G250D probably benign Het
Sipa1l2 A T 8: 126,219,094 (GRCm39) V81D probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Sqstm1 A G 11: 50,093,866 (GRCm39) probably benign Het
Taf4 A G 2: 179,577,764 (GRCm39) L519P possibly damaging Het
Tdrd6 C T 17: 43,940,626 (GRCm39) G141S probably benign Het
Urb1 C T 16: 90,566,282 (GRCm39) V1502I possibly damaging Het
Vmn1r222 A C 13: 23,416,463 (GRCm39) V250G probably benign Het
Vmn1r222 G A 13: 23,416,830 (GRCm39) L128F probably damaging Het
Wwc2 A G 8: 48,321,702 (GRCm39) Y471H unknown Het
Other mutations in Ezr
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GCTAACTTCCAGGTCACCAC -3'
(R):5'- TACAGGGCTCAGGACAACAC -3'

Sequencing Primer
(F):5'- CTTCCAGGTCACCACTTAAGATGATG -3'
(R):5'- CATCCCGTATGCCGTGC -3'
Posted On 2015-07-21