Incidental Mutation 'R6458:Mpp2'
| ID |
517450 |
| 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 |
044593-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6458 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101947841-101979341 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101971595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 12
(M12L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017458
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017458]
[ENSMUST00000100398]
|
| AlphaFold |
Q9WV34 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017458
AA Change: M12L
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000017458
Gene: ENSMUSG00000017314
AA Change: M12L
| 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: M29L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000097967
Gene: ENSMUSG00000017314
AA Change: M29L
| 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: ENSMUST00000130903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132687
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147126
|
| Meta Mutation Damage Score |
0.0899 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.3%
|
| Validation Efficiency |
100% (56/56) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot8 |
A |
G |
2: 164,646,655 (GRCm39) |
V28A |
possibly damaging |
Het |
| Ak1 |
T |
A |
2: 32,520,385 (GRCm39) |
M61K |
probably damaging |
Het |
| Akap12 |
T |
C |
10: 4,305,148 (GRCm39) |
S653P |
probably damaging |
Het |
| Anapc4 |
G |
A |
5: 53,021,895 (GRCm39) |
R659H |
possibly damaging |
Het |
| Arel1 |
T |
C |
12: 84,987,159 (GRCm39) |
N86D |
possibly damaging |
Het |
| Bco1 |
A |
G |
8: 117,854,245 (GRCm39) |
D390G |
possibly damaging |
Het |
| Ccr1l1 |
A |
T |
9: 123,778,203 (GRCm39) |
D81E |
probably damaging |
Het |
| Chd1 |
A |
T |
17: 15,950,864 (GRCm39) |
N185I |
probably benign |
Het |
| Clca4b |
T |
G |
3: 144,617,088 (GRCm39) |
N854T |
possibly damaging |
Het |
| Col4a4 |
T |
C |
1: 82,433,546 (GRCm39) |
T1466A |
unknown |
Het |
| Cxcr4 |
T |
C |
1: 128,516,831 (GRCm39) |
I277V |
probably benign |
Het |
| Dgkq |
A |
G |
5: 108,802,242 (GRCm39) |
V441A |
possibly damaging |
Het |
| Dnah10 |
G |
T |
5: 124,886,333 (GRCm39) |
L3030F |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 77,991,469 (GRCm39) |
D55E |
probably benign |
Het |
| Ermap |
A |
T |
4: 119,035,337 (GRCm39) |
N550K |
probably damaging |
Het |
| Fnbp1l |
A |
T |
3: 122,350,089 (GRCm39) |
I374N |
probably damaging |
Het |
| Gadl1 |
T |
A |
9: 115,870,070 (GRCm39) |
*479K |
probably null |
Het |
| Gm5591 |
T |
A |
7: 38,218,459 (GRCm39) |
T805S |
probably damaging |
Het |
| H2-T3 |
A |
T |
17: 36,497,911 (GRCm39) |
M334K |
possibly damaging |
Het |
| Ihh |
C |
T |
1: 74,985,601 (GRCm39) |
A295T |
probably damaging |
Het |
| Il18r1 |
T |
A |
1: 40,530,342 (GRCm39) |
Y356* |
probably null |
Het |
| Lingo3 |
A |
G |
10: 80,671,150 (GRCm39) |
V260A |
probably damaging |
Het |
| Lrp2 |
T |
G |
2: 69,335,500 (GRCm39) |
M1408L |
probably benign |
Het |
| Mical1 |
C |
A |
10: 41,360,731 (GRCm39) |
H657N |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,553,017 (GRCm39) |
D4425E |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,579,694 (GRCm39) |
|
probably null |
Het |
| Myt1l |
T |
A |
12: 29,945,298 (GRCm39) |
F1021Y |
unknown |
Het |
| Nbas |
T |
C |
12: 13,338,750 (GRCm39) |
S197P |
probably damaging |
Het |
| Nckap1 |
T |
C |
2: 80,342,893 (GRCm39) |
|
probably null |
Het |
| Nek1 |
T |
G |
8: 61,553,046 (GRCm39) |
V903G |
probably benign |
Het |
| Or14c43 |
A |
G |
7: 86,114,888 (GRCm39) |
I90V |
probably damaging |
Het |
| Or1e18-ps1 |
T |
G |
11: 73,279,517 (GRCm39) |
S112R |
probably damaging |
Het |
| Or4p22 |
T |
A |
2: 88,317,562 (GRCm39) |
I162N |
possibly damaging |
Het |
| Or8b40 |
T |
C |
9: 38,027,350 (GRCm39) |
V91A |
possibly damaging |
Het |
| Ppm1j |
T |
C |
3: 104,688,560 (GRCm39) |
V53A |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,286,540 (GRCm39) |
D328E |
probably damaging |
Het |
| Rgma |
T |
A |
7: 73,059,442 (GRCm39) |
V88E |
probably damaging |
Het |
| Slc30a6 |
A |
G |
17: 74,730,108 (GRCm39) |
T333A |
probably damaging |
Het |
| Spr |
T |
C |
6: 85,114,039 (GRCm39) |
|
probably null |
Het |
| Srek1 |
A |
T |
13: 103,880,076 (GRCm39) |
V494E |
probably benign |
Het |
| Ston1 |
A |
T |
17: 88,942,731 (GRCm39) |
T46S |
probably benign |
Het |
| Stox2 |
T |
C |
8: 47,645,079 (GRCm39) |
K858E |
possibly damaging |
Het |
| Thoc1 |
G |
A |
18: 9,993,333 (GRCm39) |
R564Q |
probably benign |
Het |
| Thoc2l |
A |
T |
5: 104,670,169 (GRCm39) |
I1564L |
probably benign |
Het |
| Tmc5 |
T |
A |
7: 118,244,539 (GRCm39) |
N472K |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,594,134 (GRCm39) |
T856A |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,608,854 (GRCm39) |
W17721R |
probably damaging |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,365 (GRCm39) |
I43T |
probably benign |
Het |
| Vmn2r56 |
T |
A |
7: 12,427,984 (GRCm39) |
I761F |
probably damaging |
Het |
| Zfp109 |
T |
C |
7: 23,927,870 (GRCm39) |
D521G |
probably benign |
Het |
| Zfp516 |
A |
G |
18: 83,005,475 (GRCm39) |
H793R |
probably benign |
Het |
| Zfp800 |
A |
T |
6: 28,244,215 (GRCm39) |
I250N |
probably damaging |
Het |
| Zpbp |
T |
A |
11: 11,358,538 (GRCm39) |
Y243F |
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 |
|
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 |
|
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'- GTTCATCACCCAGGCACGATAC -3'
(R):5'- TGTCCCTAGGATCAATGCCC -3'
Sequencing Primer
(F):5'- ACCCTTCCAGGTGGCTTGTG -3'
(R):5'- CCCGAGGCATGCAAGGG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation