Incidental Mutation 'R6275:Mpp2'
| ID |
507591 |
| 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 |
044445-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6275 (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 101951795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 401
(Y401F)
|
| 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: Y384F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000017458
Gene: ENSMUSG00000017314
AA Change: Y384F
| 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: Y401F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097967
Gene: ENSMUSG00000017314
AA Change: Y401F
| 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
|
| Meta Mutation Damage Score |
0.0939 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (56/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
A |
10: 79,833,625 (GRCm39) |
L30H |
probably damaging |
Het |
| Abcb6 |
T |
C |
1: 75,149,195 (GRCm39) |
|
probably null |
Het |
| Acsbg1 |
T |
A |
9: 54,517,056 (GRCm39) |
M586L |
probably benign |
Het |
| Ano6 |
A |
T |
15: 95,811,314 (GRCm39) |
Y159F |
probably damaging |
Het |
| C1ql1 |
A |
G |
11: 102,830,575 (GRCm39) |
I254T |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,531,519 (GRCm39) |
D318G |
possibly damaging |
Het |
| Ccr7 |
C |
T |
11: 99,036,489 (GRCm39) |
M144I |
probably damaging |
Het |
| Cdca3 |
C |
T |
6: 124,809,627 (GRCm39) |
|
probably null |
Het |
| Ces1h |
A |
T |
8: 94,099,274 (GRCm39) |
L93I |
probably benign |
Het |
| Cntfr |
T |
C |
4: 41,663,216 (GRCm39) |
D197G |
possibly damaging |
Het |
| Cyp2d12 |
C |
A |
15: 82,440,859 (GRCm39) |
P126T |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,862,248 (GRCm39) |
T2225A |
probably damaging |
Het |
| Edrf1 |
A |
T |
7: 133,269,311 (GRCm39) |
N1147Y |
possibly damaging |
Het |
| Eif1ad15 |
T |
C |
12: 88,287,995 (GRCm39) |
D86G |
possibly damaging |
Het |
| Eif1ad16 |
T |
C |
12: 87,985,255 (GRCm39) |
N96S |
probably benign |
Het |
| Ermap |
C |
T |
4: 119,035,747 (GRCm39) |
V414M |
probably damaging |
Het |
| Fam13a |
A |
G |
6: 58,931,242 (GRCm39) |
I446T |
probably damaging |
Het |
| Fgfbp3 |
T |
C |
19: 36,896,153 (GRCm39) |
H155R |
possibly damaging |
Het |
| Folr1 |
T |
A |
7: 101,508,742 (GRCm39) |
N61I |
probably damaging |
Het |
| Fsip1 |
T |
C |
2: 118,035,583 (GRCm39) |
I431V |
probably benign |
Het |
| Gm5493 |
A |
T |
17: 22,969,043 (GRCm39) |
E74D |
probably benign |
Het |
| H2-Oa |
A |
G |
17: 34,313,540 (GRCm39) |
D197G |
probably benign |
Het |
| Hps1 |
T |
C |
19: 42,758,046 (GRCm39) |
E169G |
probably null |
Het |
| Il17rc |
A |
T |
6: 113,457,308 (GRCm39) |
M372L |
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,565,501 (GRCm39) |
S1042G |
probably benign |
Het |
| Jchain |
A |
T |
5: 88,669,212 (GRCm39) |
V147E |
probably damaging |
Het |
| Laptm4b |
A |
G |
15: 34,283,473 (GRCm39) |
T211A |
probably benign |
Het |
| Mal2 |
T |
C |
15: 54,435,035 (GRCm39) |
|
probably null |
Het |
| Mov10l1 |
T |
A |
15: 88,910,823 (GRCm39) |
I1071N |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,965,610 (GRCm39) |
T1172A |
probably benign |
Het |
| Or51q1 |
T |
A |
7: 103,629,181 (GRCm39) |
S261T |
probably damaging |
Het |
| Pcnx1 |
G |
T |
12: 81,965,381 (GRCm39) |
S516I |
probably benign |
Het |
| Pidd1 |
C |
T |
7: 141,019,708 (GRCm39) |
A685T |
probably damaging |
Het |
| Psg28 |
A |
C |
7: 18,164,365 (GRCm39) |
Y116D |
probably damaging |
Het |
| Psmd11 |
T |
C |
11: 80,329,458 (GRCm39) |
|
probably benign |
Het |
| Rapgefl1 |
T |
A |
11: 98,741,946 (GRCm39) |
Y637N |
probably damaging |
Het |
| Rbm25 |
T |
A |
12: 83,691,206 (GRCm39) |
M66K |
probably damaging |
Het |
| Rnf38 |
T |
A |
4: 44,152,408 (GRCm39) |
H52L |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGTGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Sec62 |
A |
G |
3: 30,863,985 (GRCm39) |
Q89R |
probably damaging |
Het |
| Serpina6 |
T |
A |
12: 103,614,979 (GRCm39) |
Q289L |
probably benign |
Het |
| Sf3b2 |
A |
C |
19: 5,333,678 (GRCm39) |
I640S |
probably damaging |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Slc26a11 |
T |
C |
11: 119,250,125 (GRCm39) |
F127L |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,121,202 (GRCm39) |
D3936G |
probably damaging |
Het |
| Stac3 |
T |
A |
10: 127,343,615 (GRCm39) |
Y252* |
probably null |
Het |
| Stoml3 |
G |
A |
3: 53,414,927 (GRCm39) |
A240T |
probably damaging |
Het |
| Tanc1 |
A |
T |
2: 59,673,854 (GRCm39) |
H1653L |
probably benign |
Het |
| Tll1 |
A |
T |
8: 64,504,401 (GRCm39) |
L665* |
probably null |
Het |
| Tnr |
A |
C |
1: 159,688,840 (GRCm39) |
Q434P |
probably damaging |
Het |
| Tpgs1 |
C |
A |
10: 79,511,354 (GRCm39) |
D165E |
probably benign |
Het |
| Tsc2 |
A |
G |
17: 24,819,394 (GRCm39) |
V1185A |
probably benign |
Het |
| Tulp4 |
A |
G |
17: 6,249,011 (GRCm39) |
H203R |
probably damaging |
Het |
| Txnl4a |
T |
A |
18: 80,261,980 (GRCm39) |
M72K |
possibly damaging |
Het |
| Usp42 |
G |
A |
5: 143,700,727 (GRCm39) |
R1099W |
probably damaging |
Het |
| Zfp292 |
G |
A |
4: 34,808,883 (GRCm39) |
A1387V |
possibly damaging |
Het |
| Zfp994 |
A |
T |
17: 22,418,972 (GRCm39) |
L659* |
probably null |
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 |
|
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'- CCAGACGAGCTATAAGTACCTG -3'
(R):5'- TGTGGCCTTCCAGCAGTTAG -3'
Sequencing Primer
(F):5'- ATAAGTACCTGCGGGTTGACATCC -3'
(R):5'- TTCCAGCAGTTAGGGCTTCCAAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation