Incidental Mutation 'IGL01367:Mpp2'
| ID |
75970 |
| 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 # |
IGL01367
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
101947841-101979341 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101954135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 187
(E187G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017458
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017458]
[ENSMUST00000100398]
|
| AlphaFold |
Q9WV34 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017458
AA Change: E187G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000017458
Gene: ENSMUSG00000017314
AA Change: E187G
| 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 damaging
Transcript: ENSMUST00000100398
AA Change: E204G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097967
Gene: ENSMUSG00000017314
AA Change: E204G
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
A |
G |
11: 30,404,843 (GRCm39) |
V20A |
possibly damaging |
Het |
| Alk |
T |
C |
17: 72,207,781 (GRCm39) |
I985V |
probably damaging |
Het |
| Anapc2 |
A |
C |
2: 25,164,794 (GRCm39) |
R59S |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,711,696 (GRCm39) |
D165E |
probably benign |
Het |
| Asb8 |
A |
T |
15: 98,034,054 (GRCm39) |
V167D |
probably damaging |
Het |
| Atp5pf |
A |
G |
16: 84,625,360 (GRCm39) |
M81T |
probably benign |
Het |
| Bcl7b |
A |
G |
5: 135,208,950 (GRCm39) |
T138A |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,146,566 (GRCm39) |
L2869P |
probably damaging |
Het |
| Chl1 |
T |
C |
6: 103,706,186 (GRCm39) |
S1174P |
probably benign |
Het |
| Clec2g |
T |
C |
6: 128,925,699 (GRCm39) |
I36T |
unknown |
Het |
| Denr |
A |
G |
5: 124,046,182 (GRCm39) |
D4G |
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,155,096 (GRCm39) |
|
probably benign |
Het |
| Egf |
C |
T |
3: 129,496,104 (GRCm39) |
|
probably null |
Het |
| Galnt10 |
A |
C |
11: 57,616,409 (GRCm39) |
Y108S |
probably damaging |
Het |
| Gls |
C |
T |
1: 52,207,558 (GRCm39) |
G602D |
probably damaging |
Het |
| Grb10 |
G |
T |
11: 11,895,599 (GRCm39) |
Q242K |
probably damaging |
Het |
| Hspg2 |
A |
T |
4: 137,265,800 (GRCm39) |
Y1837F |
probably damaging |
Het |
| Ikzf1 |
G |
T |
11: 11,698,358 (GRCm39) |
A70S |
probably benign |
Het |
| Il17ra |
T |
C |
6: 120,458,426 (GRCm39) |
Y526H |
probably damaging |
Het |
| Il34 |
A |
T |
8: 111,469,375 (GRCm39) |
I186N |
possibly damaging |
Het |
| Iqca1 |
G |
A |
1: 89,998,350 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,896,546 (GRCm39) |
Y136C |
probably damaging |
Het |
| Man2b2 |
A |
T |
5: 36,971,681 (GRCm39) |
Y257* |
probably null |
Het |
| Map3k19 |
A |
G |
1: 127,752,088 (GRCm39) |
F421S |
possibly damaging |
Het |
| Melk |
A |
G |
4: 44,332,907 (GRCm39) |
T288A |
possibly damaging |
Het |
| Mtf2 |
A |
G |
5: 108,252,323 (GRCm39) |
T394A |
probably benign |
Het |
| Neil2 |
A |
G |
14: 63,429,177 (GRCm39) |
S39P |
probably damaging |
Het |
| Or4e5 |
T |
A |
14: 52,727,624 (GRCm39) |
I266F |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 58,286,566 (GRCm39) |
E1214G |
possibly damaging |
Het |
| Pcdhb17 |
G |
T |
18: 37,620,548 (GRCm39) |
Q779H |
probably benign |
Het |
| Pik3c2b |
A |
G |
1: 133,033,726 (GRCm39) |
I1577V |
probably benign |
Het |
| Pkp3 |
C |
T |
7: 140,663,989 (GRCm39) |
P389S |
probably damaging |
Het |
| Ppp4r2 |
T |
A |
6: 100,841,706 (GRCm39) |
Y92* |
probably null |
Het |
| Rnf13 |
T |
C |
3: 57,714,508 (GRCm39) |
I189T |
probably benign |
Het |
| Serpinf2 |
T |
C |
11: 75,328,871 (GRCm39) |
D53G |
probably benign |
Het |
| Slc47a2 |
T |
A |
11: 61,220,607 (GRCm39) |
T184S |
probably benign |
Het |
| Sned1 |
T |
C |
1: 93,210,936 (GRCm39) |
I1008T |
probably benign |
Het |
| Sorcs3 |
A |
T |
19: 48,784,814 (GRCm39) |
E1079V |
probably damaging |
Het |
| Trappc8 |
G |
A |
18: 20,999,176 (GRCm39) |
S318L |
probably benign |
Het |
| Trappc9 |
A |
G |
15: 72,462,002 (GRCm39) |
S909P |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,560,483 (GRCm39) |
T29306I |
probably damaging |
Het |
| Twnk |
G |
A |
19: 45,000,090 (GRCm39) |
R602Q |
possibly damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,075 (GRCm39) |
I261K |
probably damaging |
Het |
| Vmn2r77 |
G |
A |
7: 86,461,124 (GRCm39) |
A817T |
probably damaging |
Het |
|
| Other mutations in Mpp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01564:Mpp2
|
APN |
11 |
101,952,345 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2013-10-07 |
Incidental Mutation