Incidental Mutation 'R5451:Mpp7'
| ID |
434610 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mpp7
|
| Ensembl Gene |
ENSMUSG00000057440 |
| Gene Name |
membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) |
| Synonyms |
2810038M04Rik, LOC381166, 1110068J02Rik, 5430426E14Rik |
| MMRRC Submission |
043016-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R5451 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
7347962-7626863 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7442855 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 156
(D156G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111535
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115869]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000115869
AA Change: D156G
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000111535
Gene: ENSMUSG00000057440
AA Change: D156G
| 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 |
0.4960 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
96% (52/54) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,294,917 (GRCm38) |
F1142S |
possibly damaging |
Het |
| Abca5 |
G |
A |
11: 110,319,796 (GRCm38) |
Q186* |
probably null |
Het |
| Calhm2 |
T |
A |
19: 47,132,875 (GRCm38) |
Y285F |
possibly damaging |
Het |
| Casr |
T |
C |
16: 36,509,908 (GRCm38) |
T355A |
probably damaging |
Het |
| Ccnq |
T |
A |
11: 78,751,289 (GRCm38) |
Q125L |
possibly damaging |
Het |
| Clca1 |
T |
C |
3: 145,027,986 (GRCm38) |
Y63C |
probably damaging |
Het |
| Cntnap5a |
T |
C |
1: 115,685,143 (GRCm38) |
S3P |
probably benign |
Het |
| Col27a1 |
G |
A |
4: 63,225,239 (GRCm38) |
G388D |
probably damaging |
Het |
| Cwh43 |
T |
C |
5: 73,431,913 (GRCm38) |
M447T |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,242,019 (GRCm38) |
G2747S |
possibly damaging |
Het |
| Fbxo7 |
A |
G |
10: 86,029,037 (GRCm38) |
S51G |
probably benign |
Het |
| Gabbr2 |
T |
A |
4: 46,684,294 (GRCm38) |
Y660F |
probably benign |
Het |
| Galnt15 |
A |
G |
14: 32,029,911 (GRCm38) |
E140G |
probably benign |
Het |
| Gemin6 |
T |
G |
17: 80,227,749 (GRCm38) |
V46G |
probably damaging |
Het |
| Gsap |
T |
A |
5: 21,217,447 (GRCm38) |
L138Q |
probably damaging |
Het |
| Igflr1 |
A |
G |
7: 30,566,322 (GRCm38) |
N57S |
possibly damaging |
Het |
| Ighv13-2 |
A |
G |
12: 114,357,853 (GRCm38) |
F89L |
probably damaging |
Het |
| Irf2bpl |
A |
G |
12: 86,882,072 (GRCm38) |
V609A |
probably benign |
Het |
| Jkampl |
A |
G |
6: 73,468,867 (GRCm38) |
V233A |
probably benign |
Het |
| Lingo1 |
T |
G |
9: 56,620,427 (GRCm38) |
I293L |
probably damaging |
Het |
| Lrrc14 |
A |
G |
15: 76,713,973 (GRCm38) |
D301G |
probably benign |
Het |
| Lsm2 |
T |
C |
17: 34,982,209 (GRCm38) |
|
probably benign |
Het |
| Map4 |
C |
T |
9: 110,037,783 (GRCm38) |
|
probably benign |
Het |
| Micall1 |
T |
A |
15: 79,126,904 (GRCm38) |
|
probably null |
Het |
| Mybbp1a |
A |
G |
11: 72,448,113 (GRCm38) |
D822G |
probably damaging |
Het |
| Naip2 |
A |
G |
13: 100,188,860 (GRCm38) |
V180A |
probably benign |
Het |
| Nol10 |
T |
A |
12: 17,359,102 (GRCm38) |
Y159* |
probably null |
Het |
| Nphp3 |
A |
G |
9: 104,042,022 (GRCm38) |
T1290A |
probably benign |
Het |
| Or12e1 |
T |
A |
2: 87,192,452 (GRCm38) |
V255E |
probably damaging |
Het |
| Or5aq1b |
T |
C |
2: 87,071,997 (GRCm38) |
I46V |
probably damaging |
Het |
| Or7g20 |
T |
C |
9: 19,035,491 (GRCm38) |
Y123H |
probably damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,463,356 (GRCm38) |
Y1290F |
possibly damaging |
Het |
| Rab42 |
T |
C |
4: 132,302,516 (GRCm38) |
N132D |
probably benign |
Het |
| Rfx3 |
T |
G |
19: 27,849,959 (GRCm38) |
T76P |
probably damaging |
Het |
| Rps13-ps2 |
G |
T |
7: 88,530,828 (GRCm38) |
|
noncoding transcript |
Het |
| Slc12a3 |
A |
G |
8: 94,357,027 (GRCm38) |
D894G |
possibly damaging |
Het |
| Slc25a15 |
G |
A |
8: 22,389,967 (GRCm38) |
T54I |
probably benign |
Het |
| Slco1c1 |
A |
T |
6: 141,559,878 (GRCm38) |
Q461L |
probably benign |
Het |
| Slfn5 |
T |
G |
11: 82,960,086 (GRCm38) |
I403R |
probably damaging |
Het |
| Srxn1 |
G |
A |
2: 152,105,879 (GRCm38) |
V66M |
probably damaging |
Het |
| Tbc1d32 |
T |
A |
10: 56,195,475 (GRCm38) |
T318S |
possibly damaging |
Het |
| Tiam2 |
G |
T |
17: 3,428,996 (GRCm38) |
R668M |
probably damaging |
Het |
| Tle7 |
A |
T |
8: 110,109,871 (GRCm38) |
I160F |
probably damaging |
Het |
| Trgj4 |
G |
T |
13: 19,342,165 (GRCm38) |
|
probably benign |
Het |
| Trim9 |
A |
G |
12: 70,346,829 (GRCm38) |
S114P |
probably benign |
Het |
| Trp53i11 |
T |
C |
2: 93,199,855 (GRCm38) |
L169P |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,754,824 (GRCm38) |
I22042F |
probably damaging |
Het |
| Vmn1r190-ps |
A |
G |
13: 22,144,731 (GRCm38) |
|
noncoding transcript |
Het |
|
| Other mutations in Mpp7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00938:Mpp7
|
APN |
18 |
7,353,297 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01575:Mpp7
|
APN |
18 |
7,403,365 (GRCm38) |
splice site |
probably benign |
|
|
IGL02973:Mpp7
|
APN |
18 |
7,403,297 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02985:Mpp7
|
APN |
18 |
7,461,637 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03224:Mpp7
|
APN |
18 |
7,403,269 (GRCm38) |
missense |
probably benign |
0.28 |
|
IGL03248:Mpp7
|
APN |
18 |
7,403,269 (GRCm38) |
missense |
probably benign |
0.28 |
|
R0040:Mpp7
|
UTSW |
18 |
7,403,180 (GRCm38) |
splice site |
probably benign |
|
|
R0089:Mpp7
|
UTSW |
18 |
7,439,555 (GRCm38) |
splice site |
probably benign |
|
|
R1413:Mpp7
|
UTSW |
18 |
7,350,977 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1634:Mpp7
|
UTSW |
18 |
7,350,984 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R1859:Mpp7
|
UTSW |
18 |
7,350,967 (GRCm38) |
makesense |
probably null |
|
|
R2379:Mpp7
|
UTSW |
18 |
7,403,345 (GRCm38) |
nonsense |
probably null |
|
|
R2869:Mpp7
|
UTSW |
18 |
7,461,678 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R2869:Mpp7
|
UTSW |
18 |
7,461,678 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R2871:Mpp7
|
UTSW |
18 |
7,461,678 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R2871:Mpp7
|
UTSW |
18 |
7,461,678 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R3008:Mpp7
|
UTSW |
18 |
7,461,678 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R3009:Mpp7
|
UTSW |
18 |
7,461,678 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R3010:Mpp7
|
UTSW |
18 |
7,461,678 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R3782:Mpp7
|
UTSW |
18 |
7,351,085 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3980:Mpp7
|
UTSW |
18 |
7,444,062 (GRCm38) |
missense |
probably benign |
0.23 |
|
R4574:Mpp7
|
UTSW |
18 |
7,353,228 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4772:Mpp7
|
UTSW |
18 |
7,379,983 (GRCm38) |
splice site |
probably null |
|
|
R5066:Mpp7
|
UTSW |
18 |
7,513,002 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5437:Mpp7
|
UTSW |
18 |
7,458,930 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5578:Mpp7
|
UTSW |
18 |
7,355,101 (GRCm38) |
missense |
probably benign |
|
|
R5651:Mpp7
|
UTSW |
18 |
7,355,016 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5787:Mpp7
|
UTSW |
18 |
7,461,682 (GRCm38) |
missense |
probably benign |
|
|
R6979:Mpp7
|
UTSW |
18 |
7,355,049 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R6984:Mpp7
|
UTSW |
18 |
7,441,623 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7448:Mpp7
|
UTSW |
18 |
7,351,079 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7517:Mpp7
|
UTSW |
18 |
7,440,183 (GRCm38) |
nonsense |
probably null |
|
|
R8278:Mpp7
|
UTSW |
18 |
7,444,025 (GRCm38) |
missense |
probably benign |
|
|
R8373:Mpp7
|
UTSW |
18 |
7,444,096 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8676:Mpp7
|
UTSW |
18 |
7,440,430 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9206:Mpp7
|
UTSW |
18 |
7,403,327 (GRCm38) |
missense |
probably benign |
0.12 |
|
R9208:Mpp7
|
UTSW |
18 |
7,403,327 (GRCm38) |
missense |
probably benign |
0.12 |
|
R9439:Mpp7
|
UTSW |
18 |
7,461,692 (GRCm38) |
nonsense |
probably null |
|
|
R9790:Mpp7
|
UTSW |
18 |
7,355,049 (GRCm38) |
missense |
probably benign |
0.07 |
|
R9791:Mpp7
|
UTSW |
18 |
7,355,049 (GRCm38) |
missense |
probably benign |
0.07 |
|
X0028:Mpp7
|
UTSW |
18 |
7,403,273 (GRCm38) |
missense |
probably benign |
0.04 |
|
Z1177:Mpp7
|
UTSW |
18 |
7,355,062 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGACCACGGAGGGAGATTCATC -3'
(R):5'- CGGTATGTTTGCTCCCTGAC -3'
Sequencing Primer
(F):5'- GGAGGGAGATTCATCTACTATGCATC -3'
(R):5'- TGTCTTACAACCCATTTCAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation