Incidental Mutation 'IGL01564:Mpp2'
| ID |
90936 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mpp2
|
| Ensembl Gene |
ENSMUSG00000017314 |
| Gene Name |
membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) |
| Synonyms |
Pals4, Dlgh2, D11Bwg0652e, Dlg2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01564
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
101947841-101979341 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101952345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 393
(D393G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017458]
[ENSMUST00000100398]
|
| AlphaFold |
Q9WV34 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017458
AA Change: D376G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000017458
Gene: ENSMUSG00000017314
AA Change: D376G
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
11 |
66 |
1.19e-11 |
SMART |
|
L27
|
67 |
121 |
2.46e-13 |
SMART |
|
PDZ
|
149 |
219 |
1.89e-10 |
SMART |
|
SH3
|
228 |
292 |
9.77e-11 |
SMART |
|
GuKc
|
349 |
540 |
6.55e-79 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100398
AA Change: D393G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000097967
Gene: ENSMUSG00000017314
AA Change: D393G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
|
L27
|
28 |
83 |
1.19e-11 |
SMART |
|
L27
|
84 |
138 |
2.46e-13 |
SMART |
|
PDZ
|
166 |
236 |
1.89e-10 |
SMART |
|
SH3
|
245 |
309 |
9.77e-11 |
SMART |
|
GuKc
|
366 |
557 |
6.55e-79 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147126
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Palmitoylated membrane protein 2 is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. Palmitoylated membrane protein 2 contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat3 |
T |
A |
10: 80,442,693 (GRCm39) |
M177K |
probably damaging |
Het |
| Ankrd28 |
G |
T |
14: 31,477,724 (GRCm39) |
T48K |
probably damaging |
Het |
| Capn3 |
T |
C |
2: 120,311,189 (GRCm39) |
I112T |
probably damaging |
Het |
| Clec3a |
T |
A |
8: 115,152,282 (GRCm39) |
I96N |
probably damaging |
Het |
| Clic4 |
C |
T |
4: 134,944,504 (GRCm39) |
A224T |
probably damaging |
Het |
| Eif2b3 |
T |
C |
4: 116,885,739 (GRCm39) |
Y94H |
probably benign |
Het |
| Ep300 |
A |
T |
15: 81,516,665 (GRCm39) |
|
probably benign |
Het |
| Errfi1 |
C |
A |
4: 150,951,487 (GRCm39) |
T305N |
probably damaging |
Het |
| Fam131c |
T |
A |
4: 141,106,984 (GRCm39) |
|
probably null |
Het |
| Fbxo11 |
G |
A |
17: 88,310,324 (GRCm39) |
T494I |
probably benign |
Het |
| Homer2 |
T |
C |
7: 81,268,320 (GRCm39) |
|
probably null |
Het |
| Hpf1 |
C |
A |
8: 61,343,513 (GRCm39) |
|
probably benign |
Het |
| Hspa1b |
T |
C |
17: 35,176,525 (GRCm39) |
N487D |
probably benign |
Het |
| Ikbke |
C |
A |
1: 131,185,658 (GRCm39) |
A617S |
probably benign |
Het |
| Jade1 |
G |
T |
3: 41,551,084 (GRCm39) |
R174S |
possibly damaging |
Het |
| Lcmt1 |
T |
C |
7: 123,003,663 (GRCm39) |
F139S |
probably benign |
Het |
| Lipo2 |
T |
C |
19: 33,698,424 (GRCm39) |
T318A |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,567,498 (GRCm39) |
|
probably benign |
Het |
| Lsm14a |
T |
C |
7: 34,088,780 (GRCm39) |
|
probably benign |
Het |
| Nfyb |
T |
C |
10: 82,588,260 (GRCm39) |
Y137C |
probably damaging |
Het |
| Or10g1 |
T |
C |
14: 52,648,299 (GRCm39) |
D10G |
probably benign |
Het |
| Or5d35 |
A |
T |
2: 87,855,648 (GRCm39) |
H194L |
probably benign |
Het |
| Or5p55 |
T |
C |
7: 107,567,198 (GRCm39) |
I198T |
probably benign |
Het |
| Scn3a |
A |
C |
2: 65,291,790 (GRCm39) |
I1652S |
probably damaging |
Het |
| Slc33a1 |
C |
T |
3: 63,850,768 (GRCm39) |
V519I |
probably benign |
Het |
| Strada |
G |
T |
11: 106,064,118 (GRCm39) |
N66K |
probably damaging |
Het |
| Thoc2l |
A |
T |
5: 104,668,529 (GRCm39) |
Y1017F |
probably benign |
Het |
| Tlr1 |
T |
A |
5: 65,083,189 (GRCm39) |
I463F |
probably damaging |
Het |
| Tnfrsf19 |
G |
T |
14: 61,212,058 (GRCm39) |
F197L |
possibly damaging |
Het |
| Tph1 |
T |
A |
7: 46,300,305 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,646,922 (GRCm39) |
L3287H |
probably damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,633 (GRCm39) |
S164T |
possibly damaging |
Het |
| Zan |
C |
T |
5: 137,444,995 (GRCm39) |
V1755I |
unknown |
Het |
| Zmym4 |
T |
C |
4: 126,805,073 (GRCm39) |
I396V |
possibly damaging |
Het |
|
| Other mutations in Mpp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01367:Mpp2
|
APN |
11 |
101,954,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02158:Mpp2
|
APN |
11 |
101,954,088 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02456:Mpp2
|
APN |
11 |
101,950,199 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL03271:Mpp2
|
APN |
11 |
101,954,249 (GRCm39) |
splice site |
probably benign |
|
|
R0488:Mpp2
|
UTSW |
11 |
101,952,427 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0512:Mpp2
|
UTSW |
11 |
101,953,116 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0960:Mpp2
|
UTSW |
11 |
101,952,411 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1572:Mpp2
|
UTSW |
11 |
101,951,374 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1740:Mpp2
|
UTSW |
11 |
101,953,222 (GRCm39) |
splice site |
probably null |
|
|
R1867:Mpp2
|
UTSW |
11 |
101,955,493 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2133:Mpp2
|
UTSW |
11 |
101,955,421 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2277:Mpp2
|
UTSW |
11 |
101,955,127 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2279:Mpp2
|
UTSW |
11 |
101,955,127 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2313:Mpp2
|
UTSW |
11 |
101,952,898 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2882:Mpp2
|
UTSW |
11 |
101,955,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3429:Mpp2
|
UTSW |
11 |
101,976,141 (GRCm39) |
missense |
probably benign |
|
|
R4719:Mpp2
|
UTSW |
11 |
101,955,259 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4959:Mpp2
|
UTSW |
11 |
101,954,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4968:Mpp2
|
UTSW |
11 |
101,955,124 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5715:Mpp2
|
UTSW |
11 |
101,953,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5778:Mpp2
|
UTSW |
11 |
101,955,269 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6034:Mpp2
|
UTSW |
11 |
101,952,460 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6034:Mpp2
|
UTSW |
11 |
101,952,460 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6045:Mpp2
|
UTSW |
11 |
101,950,180 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6275:Mpp2
|
UTSW |
11 |
101,951,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6458:Mpp2
|
UTSW |
11 |
101,971,595 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6884:Mpp2
|
UTSW |
11 |
101,952,904 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6980:Mpp2
|
UTSW |
11 |
101,950,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Mpp2
|
UTSW |
11 |
101,950,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8746:Mpp2
|
UTSW |
11 |
101,954,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8752:Mpp2
|
UTSW |
11 |
101,976,129 (GRCm39) |
missense |
probably benign |
|
|
R9031:Mpp2
|
UTSW |
11 |
101,954,099 (GRCm39) |
missense |
probably benign |
|
|
R9338:Mpp2
|
UTSW |
11 |
101,951,249 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9503:Mpp2
|
UTSW |
11 |
101,955,468 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9508:Mpp2
|
UTSW |
11 |
101,951,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Mpp2
|
UTSW |
11 |
101,955,211 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Posted On |
2013-12-09 |
Incidental Mutation