Incidental Mutation 'R3009:Mpp7'
ID |
257471 |
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.145)
|
Stock # |
R3009 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
7347959-7626866 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 7461678 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 65
(P65L)
|
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: P65L
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000111535 Gene: ENSMUSG00000057440 AA Change: P65L
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
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: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap12 |
A |
G |
10: 4,307,891 (GRCm39) |
D1567G |
probably benign |
Het |
Bmp3 |
T |
C |
5: 99,027,696 (GRCm39) |
S439P |
probably damaging |
Het |
Btnl2 |
C |
T |
17: 34,582,492 (GRCm39) |
R353C |
probably damaging |
Het |
Galc |
T |
C |
12: 98,170,228 (GRCm39) |
D676G |
probably damaging |
Het |
Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
Gprc6a |
T |
C |
10: 51,504,392 (GRCm39) |
T151A |
probably benign |
Het |
Limk2 |
A |
G |
11: 3,309,046 (GRCm39) |
I104T |
probably benign |
Het |
Mei1 |
A |
G |
15: 81,996,726 (GRCm39) |
H585R |
probably damaging |
Het |
Mtfr1 |
A |
T |
3: 19,269,750 (GRCm39) |
T133S |
probably benign |
Het |
Or12k8 |
T |
C |
2: 36,975,089 (GRCm39) |
I224V |
probably benign |
Het |
Or5h22 |
A |
G |
16: 58,895,350 (GRCm39) |
V31A |
probably benign |
Het |
Or6b13 |
T |
C |
7: 139,782,669 (GRCm39) |
R5G |
probably benign |
Het |
Or8k35 |
T |
C |
2: 86,424,714 (GRCm39) |
T153A |
probably benign |
Het |
Prkg1 |
G |
A |
19: 31,641,512 (GRCm39) |
T57I |
possibly damaging |
Het |
Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Urb1 |
A |
G |
16: 90,571,686 (GRCm39) |
I1041T |
probably benign |
Het |
Vmn2r72 |
A |
T |
7: 85,398,850 (GRCm39) |
M501K |
probably benign |
Het |
Vmn2r91 |
G |
A |
17: 18,325,717 (GRCm39) |
V112I |
probably benign |
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 |
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 |
|
R6979:Mpp7
|
UTSW |
18 |
7,355,049 (GRCm39) |
missense |
possibly damaging |
0.64 |
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'- CAGAGATTTGGGAAACATTTGCAAC -3'
(R):5'- TCTGTCTGAAGAAAGTTTTGCC -3'
Sequencing Primer
(F):5'- GGGAAACATTTGCAACTTCTTCTAG -3'
(R):5'- GGATTGCATATACATGTCTGCC -3'
|
Posted On |
2015-01-11 |