Incidental Mutation 'IGL02333:Emp2'
| ID |
288780 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Emp2
|
| Ensembl Gene |
ENSMUSG00000022505 |
| Gene Name |
epithelial membrane protein 2 |
| Synonyms |
Xmp |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
IGL02333
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
10099613-10131832 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10102375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 146
(Y146H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078357]
|
| AlphaFold |
O88662 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078357
AA Change: Y146H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077466
Gene: ENSMUSG00000022505
AA Change: Y146H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
1 |
165 |
1.4e-60 |
PFAM |
|
Pfam:Claudin_2
|
13 |
167 |
5.9e-10 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tetraspan protein of the PMP22/EMP family. The encoded protein regulates cell membrane composition. It has been associated with various functions including endocytosis, cell signaling, cell proliferation, cell migration, cell adhesion, cell death, cholesterol homeostasis, urinary albumin excretion, and embryo implantation. It is known to negatively regulate caveolin-1, a scaffolding protein which is the main component of the caveolae plasma membrane invaginations found in most cell types. Through activation of PTK2 it positively regulates vascular endothelial growth factor A. It also modulates the function of specific integrin isomers in the plasma membrane. Up-regulation of this gene has been linked to cancer progression in multiple different tissues. Mutations in this gene have been associated with nephrotic syndrome type 10 (NPHS10). [provided by RefSeq, Mar 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
G |
A |
11: 105,862,273 (GRCm39) |
V276I |
probably benign |
Het |
| Acss2 |
T |
A |
2: 155,397,804 (GRCm39) |
W289R |
probably damaging |
Het |
| Alpk2 |
A |
G |
18: 65,482,551 (GRCm39) |
S19P |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,527,544 (GRCm39) |
|
probably benign |
Het |
| Atxn1 |
G |
A |
13: 45,720,680 (GRCm39) |
S405F |
probably damaging |
Het |
| Atxn2 |
A |
G |
5: 121,919,450 (GRCm39) |
Y386C |
probably damaging |
Het |
| Bach2 |
T |
A |
4: 32,575,334 (GRCm39) |
L643* |
probably null |
Het |
| Ccl22 |
T |
A |
8: 95,476,507 (GRCm39) |
L91Q |
probably damaging |
Het |
| Cdc40 |
A |
G |
10: 40,743,855 (GRCm39) |
Y81H |
probably benign |
Het |
| Col5a3 |
C |
A |
9: 20,710,602 (GRCm39) |
R549M |
unknown |
Het |
| Eif3e |
A |
T |
15: 43,129,533 (GRCm39) |
N198K |
probably benign |
Het |
| Impg1 |
G |
A |
9: 80,322,808 (GRCm39) |
L66F |
possibly damaging |
Het |
| Itsn1 |
A |
G |
16: 91,617,564 (GRCm39) |
|
probably benign |
Het |
| Khdrbs3 |
T |
C |
15: 68,921,243 (GRCm39) |
Y187H |
probably damaging |
Het |
| Klhdc7a |
T |
A |
4: 139,694,467 (GRCm39) |
H160L |
probably benign |
Het |
| Klhl2 |
G |
A |
8: 65,212,784 (GRCm39) |
R252W |
probably damaging |
Het |
| Krba1 |
C |
T |
6: 48,390,021 (GRCm39) |
T595I |
probably damaging |
Het |
| Myo9b |
G |
T |
8: 71,811,637 (GRCm39) |
D1887Y |
possibly damaging |
Het |
| Olfm4 |
C |
T |
14: 80,259,210 (GRCm39) |
T453I |
probably damaging |
Het |
| Sin3a |
A |
G |
9: 57,014,843 (GRCm39) |
N688S |
possibly damaging |
Het |
| Slc47a1 |
A |
G |
11: 61,260,950 (GRCm39) |
V150A |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,063,724 (GRCm39) |
L2234P |
probably damaging |
Het |
| Trpm4 |
C |
T |
7: 44,971,539 (GRCm39) |
V166M |
possibly damaging |
Het |
| Usp54 |
A |
T |
14: 20,639,463 (GRCm39) |
F156L |
probably damaging |
Het |
| Vmn2r32 |
A |
T |
7: 7,467,143 (GRCm39) |
F795Y |
probably damaging |
Het |
|
| Other mutations in Emp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03085:Emp2
|
APN |
16 |
10,105,910 (GRCm39) |
splice site |
probably benign |
|
|
IGL03354:Emp2
|
APN |
16 |
10,103,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
P0025:Emp2
|
UTSW |
16 |
10,103,469 (GRCm39) |
splice site |
probably benign |
|
|
R0724:Emp2
|
UTSW |
16 |
10,102,479 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2391:Emp2
|
UTSW |
16 |
10,102,452 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5759:Emp2
|
UTSW |
16 |
10,102,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Emp2
|
UTSW |
16 |
10,110,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7916:Emp2
|
UTSW |
16 |
10,102,437 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9619:Emp2
|
UTSW |
16 |
10,102,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation