Incidental Mutation 'R6979:Mpp7'
ID |
542640 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mpp7
|
Ensembl Gene |
ENSMUSG00000057440 |
Gene Name |
membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) |
Synonyms |
2810038M04Rik, LOC381166, 5430426E14Rik, 1110068J02Rik |
MMRRC Submission |
045087-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.145)
|
Stock # |
R6979 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
7347959-7626866 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 7355049 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Threonine
at position 459
(N459T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111535
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115869]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115869
AA Change: N459T
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000111535 Gene: ENSMUSG00000057440 AA Change: N459T
Domain | Start | End | E-Value | Type |
L27
|
10 |
68 |
7.05e-14 |
SMART |
L27
|
72 |
125 |
3.72e-13 |
SMART |
PDZ
|
147 |
220 |
3.8e-15 |
SMART |
SH3
|
231 |
297 |
1.4e-11 |
SMART |
low complexity region
|
317 |
328 |
N/A |
INTRINSIC |
GuKc
|
367 |
563 |
4.01e-65 |
SMART |
|
Meta Mutation Damage Score |
0.2939 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
Validation Efficiency |
100% (50/50) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
C |
T |
3: 59,947,424 (GRCm39) |
T374M |
probably benign |
Het |
Aspg |
A |
G |
12: 112,087,378 (GRCm39) |
D278G |
possibly damaging |
Het |
Aspm |
C |
A |
1: 139,408,223 (GRCm39) |
A2370E |
probably damaging |
Het |
Ccnt2 |
T |
C |
1: 127,702,873 (GRCm39) |
M65T |
probably damaging |
Het |
Cd163 |
A |
G |
6: 124,294,945 (GRCm39) |
T670A |
probably benign |
Het |
Cpne3 |
G |
A |
4: 19,533,098 (GRCm39) |
T279I |
probably benign |
Het |
Ctdspl |
G |
A |
9: 118,869,598 (GRCm39) |
V227M |
probably damaging |
Het |
Ctnnd2 |
A |
G |
15: 30,619,376 (GRCm39) |
E99G |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,896,095 (GRCm39) |
S728P |
probably damaging |
Het |
Dmxl2 |
A |
G |
9: 54,358,163 (GRCm39) |
I512T |
possibly damaging |
Het |
Dop1a |
A |
T |
9: 86,403,695 (GRCm39) |
T1630S |
possibly damaging |
Het |
Dqx1 |
A |
G |
6: 83,037,992 (GRCm39) |
D460G |
probably damaging |
Het |
Foxg1 |
T |
C |
12: 49,431,567 (GRCm39) |
|
probably benign |
Het |
H2-Q2 |
T |
A |
17: 35,564,623 (GRCm39) |
|
probably null |
Het |
Hes6 |
T |
C |
1: 91,340,810 (GRCm39) |
E17G |
possibly damaging |
Het |
Ighv1-42 |
T |
C |
12: 114,900,848 (GRCm39) |
Y79C |
possibly damaging |
Het |
Itfg2 |
T |
C |
6: 128,388,554 (GRCm39) |
D311G |
probably damaging |
Het |
Itgb5 |
T |
A |
16: 33,740,356 (GRCm39) |
C489S |
probably damaging |
Het |
Map4k5 |
A |
T |
12: 69,869,622 (GRCm39) |
C488S |
probably damaging |
Het |
Mark1 |
C |
T |
1: 184,644,825 (GRCm39) |
G377D |
possibly damaging |
Het |
Mat2a |
A |
G |
6: 72,412,096 (GRCm39) |
V318A |
probably damaging |
Het |
Mrc2 |
C |
A |
11: 105,239,461 (GRCm39) |
N1348K |
probably damaging |
Het |
Mroh5 |
T |
C |
15: 73,664,978 (GRCm39) |
K264R |
probably benign |
Het |
Mtor |
A |
G |
4: 148,608,930 (GRCm39) |
M1529V |
possibly damaging |
Het |
Mtrr |
C |
T |
13: 68,718,122 (GRCm39) |
|
probably null |
Het |
Nwd1 |
C |
T |
8: 73,394,288 (GRCm39) |
P517L |
probably damaging |
Het |
Or4a27 |
T |
A |
2: 88,559,528 (GRCm39) |
R138S |
probably benign |
Het |
Or8h10 |
A |
G |
2: 86,808,577 (GRCm39) |
S188P |
probably damaging |
Het |
Polr1c |
A |
G |
17: 46,557,095 (GRCm39) |
F63L |
probably damaging |
Het |
Polrmt |
C |
T |
10: 79,582,400 (GRCm39) |
|
probably null |
Het |
Pomt2 |
T |
C |
12: 87,177,125 (GRCm39) |
I287M |
probably damaging |
Het |
Prkar2a |
T |
A |
9: 108,610,342 (GRCm39) |
N190K |
possibly damaging |
Het |
Prl3d3 |
T |
A |
13: 27,341,545 (GRCm39) |
Y59N |
possibly damaging |
Het |
Prl5a1 |
T |
A |
13: 28,335,189 (GRCm39) |
F199L |
probably benign |
Het |
Prpf38b |
A |
G |
3: 108,818,640 (GRCm39) |
V40A |
probably benign |
Het |
Ptchd1 |
T |
A |
X: 154,357,708 (GRCm39) |
Y499F |
probably damaging |
Het |
Ptgs1 |
A |
G |
2: 36,141,311 (GRCm39) |
D586G |
probably benign |
Het |
Slx4 |
T |
C |
16: 3,802,879 (GRCm39) |
K1312E |
probably damaging |
Het |
Smok3c |
A |
G |
5: 138,062,987 (GRCm39) |
D158G |
probably benign |
Het |
Spen |
A |
T |
4: 141,205,374 (GRCm39) |
D1084E |
unknown |
Het |
Tcp11l1 |
C |
T |
2: 104,536,784 (GRCm39) |
G27D |
probably benign |
Het |
Tep1 |
A |
G |
14: 51,076,094 (GRCm39) |
S1679P |
possibly damaging |
Het |
Tmem259 |
C |
T |
10: 79,814,391 (GRCm39) |
V322I |
possibly damaging |
Het |
Tmpo |
A |
T |
10: 90,988,359 (GRCm39) |
|
probably null |
Het |
Ttn |
C |
A |
2: 76,555,137 (GRCm39) |
A30623S |
probably damaging |
Het |
Ube2l3 |
G |
A |
16: 16,977,841 (GRCm39) |
|
probably benign |
Het |
Unkl |
A |
G |
17: 25,418,890 (GRCm39) |
D146G |
probably damaging |
Het |
Vmn1r51 |
A |
T |
6: 90,106,186 (GRCm39) |
H34L |
possibly damaging |
Het |
Vmn2r17 |
A |
G |
5: 109,576,265 (GRCm39) |
T379A |
possibly damaging |
Het |
Zfp35 |
G |
T |
18: 24,136,927 (GRCm39) |
G424C |
probably benign |
Het |
Zfp420 |
T |
A |
7: 29,575,446 (GRCm39) |
H555Q |
probably damaging |
Het |
|
Other mutations in Mpp7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00938:Mpp7
|
APN |
18 |
7,353,297 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01575:Mpp7
|
APN |
18 |
7,403,365 (GRCm39) |
splice site |
probably benign |
|
IGL02973:Mpp7
|
APN |
18 |
7,403,297 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02985:Mpp7
|
APN |
18 |
7,461,637 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03224:Mpp7
|
APN |
18 |
7,403,269 (GRCm39) |
missense |
probably benign |
0.28 |
IGL03248:Mpp7
|
APN |
18 |
7,403,269 (GRCm39) |
missense |
probably benign |
0.28 |
R0040:Mpp7
|
UTSW |
18 |
7,403,180 (GRCm39) |
splice site |
probably benign |
|
R0089:Mpp7
|
UTSW |
18 |
7,439,555 (GRCm39) |
splice site |
probably benign |
|
R1413:Mpp7
|
UTSW |
18 |
7,350,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R1634:Mpp7
|
UTSW |
18 |
7,350,984 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1859:Mpp7
|
UTSW |
18 |
7,350,967 (GRCm39) |
makesense |
probably null |
|
R2379:Mpp7
|
UTSW |
18 |
7,403,345 (GRCm39) |
nonsense |
probably null |
|
R2869:Mpp7
|
UTSW |
18 |
7,461,678 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2869:Mpp7
|
UTSW |
18 |
7,461,678 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2871:Mpp7
|
UTSW |
18 |
7,461,678 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2871:Mpp7
|
UTSW |
18 |
7,461,678 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3008:Mpp7
|
UTSW |
18 |
7,461,678 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3009:Mpp7
|
UTSW |
18 |
7,461,678 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3010:Mpp7
|
UTSW |
18 |
7,461,678 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3782:Mpp7
|
UTSW |
18 |
7,351,085 (GRCm39) |
missense |
probably damaging |
0.99 |
R3980:Mpp7
|
UTSW |
18 |
7,444,062 (GRCm39) |
missense |
probably benign |
0.23 |
R4574:Mpp7
|
UTSW |
18 |
7,353,228 (GRCm39) |
missense |
probably benign |
0.02 |
R4772:Mpp7
|
UTSW |
18 |
7,379,983 (GRCm39) |
splice site |
probably null |
|
R5066:Mpp7
|
UTSW |
18 |
7,513,002 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5437:Mpp7
|
UTSW |
18 |
7,458,930 (GRCm39) |
critical splice donor site |
probably null |
|
R5451:Mpp7
|
UTSW |
18 |
7,442,855 (GRCm39) |
missense |
probably null |
0.95 |
R5578:Mpp7
|
UTSW |
18 |
7,355,101 (GRCm39) |
missense |
probably benign |
|
R5651:Mpp7
|
UTSW |
18 |
7,355,016 (GRCm39) |
critical splice donor site |
probably null |
|
R5787:Mpp7
|
UTSW |
18 |
7,461,682 (GRCm39) |
missense |
probably benign |
|
R6984:Mpp7
|
UTSW |
18 |
7,441,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R7448:Mpp7
|
UTSW |
18 |
7,351,079 (GRCm39) |
missense |
probably damaging |
0.98 |
R7517:Mpp7
|
UTSW |
18 |
7,440,183 (GRCm39) |
nonsense |
probably null |
|
R8278:Mpp7
|
UTSW |
18 |
7,444,025 (GRCm39) |
missense |
probably benign |
|
R8373:Mpp7
|
UTSW |
18 |
7,444,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R8676:Mpp7
|
UTSW |
18 |
7,440,430 (GRCm39) |
critical splice donor site |
probably null |
|
R9206:Mpp7
|
UTSW |
18 |
7,403,327 (GRCm39) |
missense |
probably benign |
0.12 |
R9208:Mpp7
|
UTSW |
18 |
7,403,327 (GRCm39) |
missense |
probably benign |
0.12 |
R9439:Mpp7
|
UTSW |
18 |
7,461,692 (GRCm39) |
nonsense |
probably null |
|
R9790:Mpp7
|
UTSW |
18 |
7,355,049 (GRCm39) |
missense |
probably benign |
0.07 |
R9791:Mpp7
|
UTSW |
18 |
7,355,049 (GRCm39) |
missense |
probably benign |
0.07 |
X0028:Mpp7
|
UTSW |
18 |
7,403,273 (GRCm39) |
missense |
probably benign |
0.04 |
Z1177:Mpp7
|
UTSW |
18 |
7,355,062 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTGTGAACTTGACTGAAGAAAAC -3'
(R):5'- ATTTGCCGAAGTGCTTGGC -3'
Sequencing Primer
(F):5'- CCAAGAGATACAAACATTGATCTCTG -3'
(R):5'- CACAGCAAAATTTTTACACATTCAGC -3'
|
Posted On |
2018-11-28 |