Incidental Mutation 'R9712:Ezr'
ID 730287
Institutional Source Beutler Lab
Gene Symbol Ezr
Ensembl Gene ENSMUSG00000052397
Gene Name ezrin
Synonyms cytovillin, Vil2, ezrin, p81
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9712 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 6738041-6782784 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6752995 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 229 (E229G)
Ref Sequence ENSEMBL: ENSMUSP00000063734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064234]
AlphaFold P26040
Predicted Effect probably damaging
Transcript: ENSMUST00000064234
AA Change: E229G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063734
Gene: ENSMUSG00000052397
AA Change: E229G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik A T 19: 3,715,784 M20L probably benign Het
9430007A20Rik C T 4: 144,528,784 A258V probably benign Het
Abca8b T A 11: 109,942,337 D1241V probably benign Het
Adam20 G A 8: 40,795,453 R200H probably benign Het
Adcy10 T C 1: 165,513,112 F229L probably damaging Het
Adsl A T 15: 80,955,639 N126I probably benign Het
Ahnak AGATCTC A 19: 9,007,028 probably benign Het
Ahnak GATCTCTAT GAT 19: 9,007,029 probably benign Het
Aktip G A 8: 91,129,727 P41S probably damaging Het
Alkbh3 C A 2: 93,980,973 R258L probably damaging Het
Arfgap3 A G 15: 83,313,533 Y341H probably benign Het
Arhgef26 C T 3: 62,423,613 L583F probably damaging Het
Arhgef40 T C 14: 51,988,958 I153T probably damaging Het
Atp1a1 T C 3: 101,591,441 S179G probably benign Het
Bok T C 1: 93,686,507 S21P probably damaging Het
C130060K24Rik A G 6: 65,456,140 I315V probably benign Het
Ccdc136 A G 6: 29,417,442 E754G probably benign Het
Cers3 A G 7: 66,773,630 K108E probably benign Het
Cmya5 T C 13: 93,065,373 probably null Het
Col19a1 T C 1: 24,328,067 E478G possibly damaging Het
Colec10 T A 15: 54,459,784 S134R possibly damaging Het
Ctnnb1 A T 9: 120,955,829 I514F probably damaging Het
Cux1 C T 5: 136,309,819 E664K probably benign Het
Dars T C 1: 128,405,462 Q75R probably benign Het
Disp1 T A 1: 183,135,815 S16C probably damaging Het
Dnah7a A T 1: 53,559,140 V1412E probably benign Het
Ect2l C T 10: 18,168,434 V226I probably benign Het
Ep400 T A 5: 110,756,643 H30L unknown Het
Ephx4 A G 5: 107,419,781 I202V probably benign Het
Exoc3 A T 13: 74,192,908 F259Y probably damaging Het
Fat1 A T 8: 45,017,380 I1472L probably benign Het
Fsd1l T G 4: 53,679,972 D223E probably benign Het
Gata6 A T 18: 11,059,064 D377V possibly damaging Het
Gm12185 A T 11: 48,907,389 M759K probably benign Het
Gm21994 C T 2: 150,254,576 R311Q probably benign Het
Gm9922 C T 14: 101,729,457 A120T unknown Het
Hectd4 A T 5: 121,310,681 Y364F probably benign Het
Hnrnph1 A G 11: 50,385,869 S465G unknown Het
Ifi204 T C 1: 173,749,358 Y559C probably damaging Het
Ift88 T C 14: 57,481,396 S613P probably damaging Het
Kif21a G C 15: 90,985,325 A441G probably damaging Het
Kif21a G T 15: 90,995,512 T191K probably benign Het
Lrit1 T A 14: 37,060,127 C252* probably null Het
Ncbp1 T A 4: 46,144,837 D29E probably benign Het
Nlrp10 A T 7: 108,925,528 D248E probably damaging Het
Nphp4 T G 4: 152,547,064 V807G probably benign Het
Nsd1 T C 13: 55,246,043 S589P possibly damaging Het
Oas1b T A 5: 120,814,485 N80K probably damaging Het
Olfr1055 G A 2: 86,347,239 H176Y probably benign Het
Olfr1135 A T 2: 87,671,761 I202N probably benign Het
Oprk1 T A 1: 5,598,873 C181S probably damaging Het
Oprl1 T A 2: 181,718,419 N89K probably damaging Het
Pdcd11 A G 19: 47,129,302 K1697E probably damaging Het
Pdp1 G A 4: 11,961,607 H254Y probably benign Het
Pds5b A T 5: 150,805,663 D1419V possibly damaging Het
Per1 G T 11: 69,100,649 G3V probably benign Het
Pex16 C A 2: 92,376,643 N55K probably damaging Het
Phldb2 C A 16: 45,774,977 L862F probably benign Het
Pld5 T A 1: 175,964,006 D478V probably benign Het
Pms2 T C 5: 143,914,796 I177T probably damaging Het
Pou1f1 A T 16: 65,529,872 E119D probably benign Het
Ppp2r1a A C 17: 20,958,796 E295A probably damaging Het
Rad51ap2 A T 12: 11,457,592 N505I possibly damaging Het
Rasal3 A C 17: 32,396,562 V434G probably damaging Het
Rasgrf2 C T 13: 91,987,973 V6M Het
Rwdd1 A T 10: 34,001,156 D197E Het
Scn11a A T 9: 119,790,010 C755* probably null Het
Skil T C 3: 31,116,860 S443P probably benign Het
Slc12a6 T C 2: 112,356,472 C939R probably damaging Het
Slc25a36 A G 9: 97,079,177 S269P probably benign Het
Srrm4 T A 5: 116,482,393 H92L unknown Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,301,649 probably benign Het
Tbc1d4 A T 14: 101,507,410 V260E probably benign Het
Tbc1d8 T C 1: 39,385,232 N593D probably damaging Het
Trex1 C A 9: 109,058,737 R62L probably damaging Het
Trpm3 A T 19: 22,715,352 D269V possibly damaging Het
Trpv4 G T 5: 114,633,150 Y439* probably null Het
Ttn G A 2: 76,734,248 T28515I probably damaging Het
Ucn2 G A 9: 108,986,503 G111D probably damaging Het
Uhrf2 A G 19: 30,056,481 I212V possibly damaging Het
Usp24 T A 4: 106,347,367 M261K probably benign Het
Vmn1r235 A T 17: 21,261,698 D95V probably benign Het
Vwf G A 6: 125,624,573 R826Q Het
Zfp28 T C 7: 6,393,879 C438R probably damaging Het
Other mutations in Ezr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01783:Ezr APN 17 6742489 unclassified probably benign
IGL02871:Ezr APN 17 6742390 nonsense probably null
R0020:Ezr UTSW 17 6742727 missense probably damaging 1.00
R0020:Ezr UTSW 17 6742727 missense probably damaging 1.00
R0277:Ezr UTSW 17 6754765 nonsense probably null
R0323:Ezr UTSW 17 6754765 nonsense probably null
R0930:Ezr UTSW 17 6753999 nonsense probably null
R1497:Ezr UTSW 17 6742708 missense probably benign 0.07
R1669:Ezr UTSW 17 6739313 missense probably damaging 1.00
R1801:Ezr UTSW 17 6742372 missense possibly damaging 0.62
R2078:Ezr UTSW 17 6782642 start codon destroyed probably null 0.23
R4250:Ezr UTSW 17 6754797 missense probably damaging 1.00
R4448:Ezr UTSW 17 6753074 missense probably benign 0.01
R4610:Ezr UTSW 17 6739722 missense possibly damaging 0.71
R4691:Ezr UTSW 17 6759562 missense probably benign
R4736:Ezr UTSW 17 6741576 missense probably benign 0.42
R5327:Ezr UTSW 17 6753049 missense probably damaging 1.00
R6564:Ezr UTSW 17 6742847 missense probably damaging 0.99
R7863:Ezr UTSW 17 6741464 missense probably damaging 1.00
R8788:Ezr UTSW 17 6753993 missense probably benign 0.29
R8910:Ezr UTSW 17 6755900 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTCCCATGTCCTACAGAACAG -3'
(R):5'- AGCAGAGACTTGTGTGTTCAG -3'

Sequencing Primer
(F):5'- TGTCCTACAGAACAGATGTACAAG -3'
(R):5'- CAGGTGTGAATGCTGCTAAC -3'
Posted On 2022-10-06