Incidental Mutation 'R0020:Ezr'
| ID |
64750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ezr
|
| Ensembl Gene |
ENSMUSG00000052397 |
| Gene Name |
ezrin |
| Synonyms |
Vil2, cytovillin, ezrin, p81 |
| MMRRC Submission |
038315-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0020 (G1)
|
| Quality Score |
128 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
7005530-7050179 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 7010126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 308
(Q308K)
|
| 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 damaging
Transcript: ENSMUST00000064234
AA Change: Q308K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000063734
Gene: ENSMUSG00000052397
AA Change: Q308K
| 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 |
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: ENSMUST00000231743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232362
|
| Meta Mutation Damage Score |
0.4027 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.4%
|
| Validation Efficiency |
99% (67/68) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ado |
T |
C |
10: 67,383,927 (GRCm39) |
D226G |
probably benign |
Het |
| Agfg2 |
C |
T |
5: 137,652,064 (GRCm39) |
V432M |
probably benign |
Het |
| Atf2 |
T |
C |
2: 73,676,628 (GRCm39) |
D122G |
possibly damaging |
Het |
| Brd10 |
A |
T |
19: 29,693,597 (GRCm39) |
D2032E |
probably damaging |
Het |
| Cd2bp2 |
G |
A |
7: 126,792,996 (GRCm39) |
T342M |
probably damaging |
Het |
| Cip2a |
A |
T |
16: 48,821,975 (GRCm39) |
H201L |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,739,272 (GRCm39) |
I319F |
probably damaging |
Het |
| Cst11 |
T |
A |
2: 148,613,253 (GRCm39) |
Y24F |
probably damaging |
Het |
| Cstb |
T |
A |
10: 78,263,170 (GRCm39) |
V65E |
probably benign |
Het |
| Cyp2j11 |
G |
A |
4: 96,195,641 (GRCm39) |
H352Y |
probably benign |
Het |
| D130043K22Rik |
T |
A |
13: 25,038,475 (GRCm39) |
|
probably benign |
Het |
| Dbh |
A |
G |
2: 27,060,584 (GRCm39) |
|
probably benign |
Het |
| Dhdh |
T |
C |
7: 45,137,528 (GRCm39) |
K53R |
probably benign |
Het |
| Drc3 |
A |
G |
11: 60,261,371 (GRCm39) |
Y174C |
probably damaging |
Het |
| F3 |
A |
T |
3: 121,525,265 (GRCm39) |
N169Y |
probably damaging |
Het |
| Fbn2 |
G |
T |
18: 58,238,236 (GRCm39) |
T587K |
probably damaging |
Het |
| Fhl5 |
A |
T |
4: 25,200,054 (GRCm39) |
V260E |
probably benign |
Het |
| Glyr1 |
A |
G |
16: 4,854,913 (GRCm39) |
I55T |
probably damaging |
Het |
| Gm12695 |
G |
C |
4: 96,657,972 (GRCm39) |
P66A |
probably damaging |
Het |
| Gon4l |
G |
T |
3: 88,766,244 (GRCm39) |
V428L |
probably damaging |
Het |
| Ighv6-5 |
T |
C |
12: 114,380,241 (GRCm39) |
D92G |
probably null |
Het |
| Inhba |
A |
C |
13: 16,200,949 (GRCm39) |
K170N |
possibly damaging |
Het |
| Kng2 |
A |
G |
16: 22,816,046 (GRCm39) |
V317A |
probably benign |
Het |
| Larp1 |
T |
A |
11: 57,940,849 (GRCm39) |
D658E |
probably damaging |
Het |
| Map3k14 |
T |
C |
11: 103,118,500 (GRCm39) |
E562G |
probably damaging |
Het |
| Megf10 |
G |
T |
18: 57,420,965 (GRCm39) |
V868F |
possibly damaging |
Het |
| Nap1l1 |
A |
C |
10: 111,326,884 (GRCm39) |
E148D |
probably benign |
Het |
| Nlrp4a |
A |
T |
7: 26,149,797 (GRCm39) |
H468L |
probably damaging |
Het |
| Nphs1 |
G |
T |
7: 30,162,633 (GRCm39) |
V357L |
probably benign |
Het |
| Or10aa3 |
T |
A |
1: 173,878,413 (GRCm39) |
V158E |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,719,687 (GRCm39) |
T1275A |
unknown |
Het |
| Pde4d |
T |
A |
13: 110,091,104 (GRCm39) |
C35S |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,825,765 (GRCm39) |
|
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,651,382 (GRCm39) |
E910G |
probably damaging |
Het |
| Pot1b |
T |
A |
17: 55,960,429 (GRCm39) |
M634L |
probably benign |
Het |
| Ppp2r5c |
C |
T |
12: 110,541,257 (GRCm39) |
Q469* |
probably null |
Het |
| Ppp6r2 |
T |
A |
15: 89,143,342 (GRCm39) |
M163K |
probably damaging |
Het |
| Prss43 |
C |
A |
9: 110,657,580 (GRCm39) |
|
probably benign |
Het |
| Rb1cc1 |
C |
A |
1: 6,334,772 (GRCm39) |
N1444K |
possibly damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,021,350 (GRCm39) |
|
probably benign |
Het |
| Scube2 |
A |
G |
7: 109,430,095 (GRCm39) |
|
probably benign |
Het |
| Slamf9 |
T |
C |
1: 172,303,082 (GRCm39) |
S7P |
possibly damaging |
Het |
| Slc35b2 |
T |
A |
17: 45,877,782 (GRCm39) |
M303K |
probably damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,796,108 (GRCm38) |
F1116I |
probably benign |
Het |
| Slco1a8 |
A |
T |
6: 141,918,076 (GRCm39) |
V600E |
possibly damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,060,991 (GRCm39) |
|
probably benign |
Het |
| Tamalin |
T |
C |
15: 101,128,433 (GRCm39) |
V157A |
probably damaging |
Het |
| Tns3 |
A |
C |
11: 8,495,227 (GRCm39) |
|
probably null |
Het |
| Zfp282 |
T |
G |
6: 47,856,943 (GRCm39) |
W59G |
probably damaging |
Het |
| Zfp746 |
C |
A |
6: 48,041,641 (GRCm39) |
A362S |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCCATAGCCTGTGTCTGTGTCC -3'
(R):5'- CGATAACCAGCTCTCTCAGTGCAAG -3'
Sequencing Primer
(F):5'- CCTGCTTGATCCCAACTGG -3'
(R):5'- GAGAAACTCTTATGAAGTGCCGTC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation