Incidental Mutation 'R9503:Mpp2'
ID |
717706 |
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 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9503 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
101947841-101979341 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101955468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 94
(D94G)
|
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: D77G
PolyPhen 2
Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000017458 Gene: ENSMUSG00000017314 AA Change: D77G
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: D94G
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000097967 Gene: ENSMUSG00000017314 AA Change: D94G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
A |
19: 8,987,458 (GRCm39) |
V2914E |
probably damaging |
Het |
Bcan |
G |
A |
3: 87,900,748 (GRCm39) |
P495L |
probably benign |
Het |
Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
Cc2d2b |
C |
T |
19: 40,804,275 (GRCm39) |
T934M |
unknown |
Het |
Ciao1 |
T |
C |
2: 127,084,916 (GRCm39) |
D274G |
probably damaging |
Het |
Cpne9 |
G |
T |
6: 113,271,732 (GRCm39) |
R364L |
possibly damaging |
Het |
D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
Fbn2 |
T |
C |
18: 58,171,313 (GRCm39) |
Y2150C |
probably damaging |
Het |
Hdac4 |
A |
T |
1: 91,929,956 (GRCm39) |
F177I |
probably damaging |
Het |
Lama2 |
A |
G |
10: 26,865,440 (GRCm39) |
V2906A |
possibly damaging |
Het |
Nudt14 |
A |
G |
12: 112,898,566 (GRCm39) |
L178P |
probably damaging |
Het |
Or14a258 |
C |
T |
7: 86,035,228 (GRCm39) |
M213I |
probably benign |
Het |
Pcnt |
A |
G |
10: 76,263,882 (GRCm39) |
W361R |
possibly damaging |
Het |
Pcnx4 |
G |
T |
12: 72,588,561 (GRCm39) |
S123I |
probably damaging |
Het |
Pnp |
A |
G |
14: 51,188,423 (GRCm39) |
N199S |
probably benign |
Het |
Prr12 |
G |
T |
7: 44,693,020 (GRCm39) |
P1504Q |
unknown |
Het |
Pus7l |
T |
A |
15: 94,438,666 (GRCm39) |
I60L |
probably benign |
Het |
Strn3 |
A |
T |
12: 51,656,894 (GRCm39) |
F795I |
possibly damaging |
Het |
Stxbp3 |
A |
G |
3: 108,710,911 (GRCm39) |
L327P |
probably damaging |
Het |
Themis2 |
A |
G |
4: 132,510,657 (GRCm39) |
|
probably null |
Het |
Ube2j1 |
C |
T |
4: 33,049,781 (GRCm39) |
Q260* |
probably null |
Het |
Unc93b1 |
A |
G |
19: 3,986,373 (GRCm39) |
I136V |
possibly damaging |
Het |
Usp9y |
T |
A |
Y: 1,316,045 (GRCm39) |
Q2030L |
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 |
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 |
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'- AGTCATGTGTCTCCAGGAGG -3'
(R):5'- ACCCAGAGTGATGATGCAAGTG -3'
Sequencing Primer
(F):5'- CATGTGTCTCCAGGAGGGACTAAAG -3'
(R):5'- CAAGTGGGGTTTAGGGGCTTAGAG -3'
|
Posted On |
2022-07-18 |