Incidental Mutation 'R2313:Mpp2'
| ID |
245381 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2313 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
101947841-101979341 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101952898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 318
(E318G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017458]
[ENSMUST00000100398]
|
| AlphaFold |
Q9WV34 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017458
AA Change: E301G
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000017458
Gene: ENSMUSG00000017314
AA Change: E301G
| 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 |
possibly damaging
Transcript: ENSMUST00000100398
AA Change: E318G
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097967
Gene: ENSMUSG00000017314
AA Change: E318G
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.1%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
T |
A |
6: 116,390,822 (GRCm39) |
D443V |
probably benign |
Het |
| Ankrd53 |
A |
T |
6: 83,740,662 (GRCm39) |
H95L |
probably damaging |
Het |
| Chrnb3 |
A |
G |
8: 27,883,809 (GRCm39) |
Y182C |
probably damaging |
Het |
| Cln5 |
C |
T |
14: 103,309,182 (GRCm39) |
R79* |
probably null |
Het |
| Cntn3 |
C |
A |
6: 102,180,889 (GRCm39) |
V769L |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Il1r1 |
T |
C |
1: 40,352,470 (GRCm39) |
S550P |
probably benign |
Het |
| Klra7 |
T |
A |
6: 130,205,505 (GRCm39) |
T132S |
probably benign |
Het |
| Lrch3 |
A |
G |
16: 32,782,045 (GRCm39) |
N273S |
probably damaging |
Het |
| Lrriq3 |
A |
T |
3: 154,869,660 (GRCm39) |
R328S |
probably benign |
Het |
| Or4c122 |
C |
A |
2: 89,079,285 (GRCm39) |
C239F |
probably damaging |
Het |
| Or4n4 |
G |
A |
14: 50,519,431 (GRCm39) |
S93F |
probably damaging |
Het |
| Pglyrp2 |
A |
T |
17: 32,637,673 (GRCm39) |
D118E |
probably damaging |
Het |
| Ppp4c |
A |
G |
7: 126,386,629 (GRCm39) |
S153P |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,712,027 (GRCm39) |
S1642G |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Unc13d |
A |
G |
11: 115,954,560 (GRCm39) |
F1016S |
probably damaging |
Het |
| Vwa8 |
C |
G |
14: 79,149,658 (GRCm39) |
T140S |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,037,150 (GRCm39) |
F2046L |
probably damaging |
Het |
| Zfp788 |
A |
G |
7: 41,298,312 (GRCm39) |
H316R |
probably damaging |
Het |
| Zfp994 |
T |
A |
17: 22,420,266 (GRCm39) |
I228F |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACCCACCTGCATTCTTGGTG -3'
(R):5'- GACTTGCTCCAGATTGTAAACC -3'
Sequencing Primer
(F):5'- GGTGGTCAAATACATCATTCGC -3'
(R):5'- GCTCCAGATTGTAAACCAAGATG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation