Incidental Mutation 'R3008:Mpp7'
| ID |
257451 |
| 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: 0.131)
|
| Stock # |
R3008 (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: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
C |
3: 59,652,930 (GRCm39) |
L123P |
possibly damaging |
Het |
| Acap3 |
T |
C |
4: 155,990,139 (GRCm39) |
I773T |
probably benign |
Het |
| Atm |
A |
C |
9: 53,392,050 (GRCm39) |
F1780V |
probably benign |
Het |
| Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
| Cldn19 |
T |
G |
4: 119,112,987 (GRCm39) |
L73R |
probably damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,666,204 (GRCm39) |
Y1078C |
probably damaging |
Het |
| Foxo6 |
A |
T |
4: 120,125,961 (GRCm39) |
M278K |
probably benign |
Het |
| Gm10277 |
T |
A |
11: 77,676,362 (GRCm39) |
|
probably benign |
Het |
| Gm4871 |
A |
T |
5: 144,966,627 (GRCm39) |
D285E |
probably damaging |
Het |
| Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
| Ighv1-85 |
A |
T |
12: 115,963,704 (GRCm39) |
Y99N |
probably damaging |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,071 (GRCm39) |
L107Q |
probably damaging |
Het |
| Kif17 |
A |
G |
4: 138,005,476 (GRCm39) |
D347G |
probably damaging |
Het |
| Med22 |
T |
C |
2: 26,798,396 (GRCm39) |
|
probably benign |
Het |
| Mme |
T |
A |
3: 63,266,378 (GRCm39) |
N551K |
probably damaging |
Het |
| Muc2 |
A |
T |
7: 141,281,347 (GRCm39) |
H475L |
possibly damaging |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or8s10 |
G |
A |
15: 98,335,857 (GRCm39) |
C169Y |
probably damaging |
Het |
| Pdp2 |
T |
A |
8: 105,320,898 (GRCm39) |
I249N |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
G |
T |
1: 131,693,652 (GRCm39) |
G714V |
probably damaging |
Het |
| Tarbp1 |
G |
A |
8: 127,174,160 (GRCm39) |
T882I |
possibly damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Ubr5 |
A |
G |
15: 38,031,089 (GRCm39) |
S398P |
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 |
|
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 |
|
|
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'- CACAAGCGTGGTGATGACAG -3'
(R):5'- TGTTCTGTCTGAAGAAAGTTTTGCC -3'
Sequencing Primer
(F):5'- CAGAGATTTGGGAAACATTTGCAAC -3'
(R):5'- GGATTGCATATACATGTCTGCC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation