Incidental Mutation 'R5787:Mpp7'
| ID |
448120 |
| 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 # |
R5787 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
7347959-7626866 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7461682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 64
(N64D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111535
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115869]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115869
AA Change: N64D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111535
Gene: ENSMUSG00000057440
AA Change: N64D
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Adam24 |
A |
G |
8: 41,133,941 (GRCm39) |
N470D |
possibly damaging |
Het |
| Adcy8 |
T |
C |
15: 64,576,067 (GRCm39) |
D1027G |
probably damaging |
Het |
| Amph |
A |
T |
13: 19,132,624 (GRCm39) |
I8F |
possibly damaging |
Het |
| Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,419,882 (GRCm39) |
|
probably null |
Het |
| Ano5 |
G |
A |
7: 51,216,066 (GRCm39) |
D348N |
possibly damaging |
Het |
| Atp6v0a1 |
A |
G |
11: 100,909,400 (GRCm39) |
D43G |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,046,882 (GRCm39) |
|
probably null |
Het |
| Btnl10 |
T |
A |
11: 58,811,169 (GRCm39) |
I164N |
probably damaging |
Het |
| Ccdc174 |
C |
T |
6: 91,858,291 (GRCm39) |
Q71* |
probably null |
Het |
| Ceacam3 |
G |
A |
7: 16,888,971 (GRCm39) |
E247K |
possibly damaging |
Het |
| Chrna2 |
A |
G |
14: 66,386,457 (GRCm39) |
D201G |
probably benign |
Het |
| Clasp2 |
G |
A |
9: 113,691,310 (GRCm39) |
D448N |
probably damaging |
Het |
| Clcn2 |
C |
A |
16: 20,522,183 (GRCm39) |
R829L |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,384,898 (GRCm39) |
S440P |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,450,797 (GRCm39) |
D29G |
probably damaging |
Het |
| Cpne4 |
A |
G |
9: 104,899,600 (GRCm39) |
T428A |
probably benign |
Het |
| Cul3 |
T |
C |
1: 80,260,438 (GRCm39) |
I304V |
probably benign |
Het |
| Cyp11a1 |
C |
A |
9: 57,922,550 (GRCm39) |
Q77K |
probably benign |
Het |
| Cyp3a25 |
A |
G |
5: 145,935,313 (GRCm39) |
V101A |
probably benign |
Het |
| Cyp4f15 |
T |
C |
17: 32,921,782 (GRCm39) |
F485L |
probably damaging |
Het |
| Des |
T |
A |
1: 75,340,290 (GRCm39) |
V399E |
probably damaging |
Het |
| Dhx58 |
T |
C |
11: 100,592,145 (GRCm39) |
D301G |
possibly damaging |
Het |
| Ear6 |
A |
G |
14: 52,091,855 (GRCm39) |
E134G |
probably benign |
Het |
| Eif2b3 |
A |
G |
4: 116,901,637 (GRCm39) |
D100G |
probably damaging |
Het |
| Erich1 |
T |
C |
8: 14,083,776 (GRCm39) |
|
probably null |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Htr4 |
T |
C |
18: 62,546,693 (GRCm39) |
V82A |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,052,985 (GRCm39) |
D219G |
probably damaging |
Het |
| Ifit1 |
T |
A |
19: 34,624,975 (GRCm39) |
V37E |
probably benign |
Het |
| Isg20 |
T |
A |
7: 78,569,558 (GRCm39) |
D176E |
probably benign |
Het |
| Islr2 |
A |
G |
9: 58,105,637 (GRCm39) |
V585A |
probably damaging |
Het |
| Kat6a |
A |
G |
8: 23,422,663 (GRCm39) |
E991G |
probably damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,977,726 (GRCm39) |
Y104C |
probably damaging |
Het |
| Lrtm1 |
G |
C |
14: 28,743,947 (GRCm39) |
E138D |
possibly damaging |
Het |
| Mllt3 |
A |
T |
4: 87,759,057 (GRCm39) |
D330E |
probably damaging |
Het |
| Naip6 |
G |
T |
13: 100,436,724 (GRCm39) |
Q600K |
probably benign |
Het |
| Nop9 |
T |
G |
14: 55,983,791 (GRCm39) |
C141G |
possibly damaging |
Het |
| Nos1ap |
T |
C |
1: 170,146,141 (GRCm39) |
E471G |
probably benign |
Het |
| Npr2 |
A |
G |
4: 43,633,593 (GRCm39) |
T246A |
possibly damaging |
Het |
| Or2t1 |
A |
C |
14: 14,328,725 (GRCm38) |
M205L |
probably damaging |
Het |
| Or4a76 |
T |
A |
2: 89,461,018 (GRCm39) |
I75F |
probably benign |
Het |
| Or6z1 |
A |
T |
7: 6,504,989 (GRCm39) |
S79T |
probably damaging |
Het |
| Pdlim4 |
T |
A |
11: 53,946,042 (GRCm39) |
D271V |
probably damaging |
Het |
| Pik3r6 |
T |
C |
11: 68,430,753 (GRCm39) |
V518A |
possibly damaging |
Het |
| Rab5a |
C |
T |
17: 53,804,650 (GRCm39) |
P87S |
probably damaging |
Het |
| Rbsn |
C |
T |
6: 92,176,797 (GRCm39) |
V239I |
possibly damaging |
Het |
| Rsph14 |
T |
A |
10: 74,793,460 (GRCm39) |
I314F |
possibly damaging |
Het |
| S1pr2 |
A |
T |
9: 20,879,232 (GRCm39) |
S199T |
probably benign |
Het |
| Scrib |
A |
G |
15: 75,931,151 (GRCm39) |
L902P |
probably damaging |
Het |
| Slc25a23 |
T |
C |
17: 57,360,825 (GRCm39) |
T200A |
probably damaging |
Het |
| Slc8a1 |
A |
T |
17: 81,696,166 (GRCm39) |
I956N |
probably damaging |
Het |
| Spef2 |
A |
G |
15: 9,748,812 (GRCm39) |
V15A |
possibly damaging |
Het |
| Stim1 |
T |
A |
7: 102,084,647 (GRCm39) |
V533E |
possibly damaging |
Het |
| Tbck |
A |
T |
3: 132,443,329 (GRCm39) |
D585V |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,271,037 (GRCm39) |
L80Q |
probably benign |
Het |
| Trim67 |
C |
T |
8: 125,521,051 (GRCm39) |
R138* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,580,627 (GRCm39) |
N23422S |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,260,511 (GRCm39) |
*1023Q |
probably null |
Het |
| Vmn1r208 |
T |
C |
13: 22,956,841 (GRCm39) |
N219D |
possibly damaging |
Het |
| Vmn1r8 |
T |
A |
6: 57,013,244 (GRCm39) |
S98R |
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 |
|
|
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'- TCTGTCTGAAGAAAGTTTTGCC -3'
Sequencing Primer
(F):5'- CAGAGATTTGGGAAACATTTGCAAC -3'
(R):5'- GATGGATTGCATATACATGTCTGCC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation