Incidental Mutation 'R8676:Mpp7'
| ID |
661415 |
| 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 |
068531-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R8676 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
7347959-7626866 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 7440430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000111535
Gene: ENSMUSG00000057440
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
93% (54/58) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
G |
A |
4: 144,396,683 (GRCm39) |
R350C |
possibly damaging |
Het |
| Acsm3 |
T |
A |
7: 119,374,392 (GRCm39) |
S281R |
probably damaging |
Het |
| Adipor2 |
G |
T |
6: 119,340,447 (GRCm39) |
|
probably benign |
Het |
| Alk |
T |
C |
17: 72,204,936 (GRCm39) |
S1079G |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,302,009 (GRCm39) |
|
probably null |
Het |
| Anxa6 |
C |
A |
11: 54,892,108 (GRCm39) |
E283* |
probably null |
Het |
| Bnc2 |
T |
C |
4: 84,194,550 (GRCm39) |
H858R |
possibly damaging |
Het |
| Btnl6 |
T |
C |
17: 34,727,043 (GRCm39) |
S496G |
probably benign |
Het |
| Ccdc88a |
T |
C |
11: 29,410,860 (GRCm39) |
S449P |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,246,689 (GRCm39) |
D916E |
probably damaging |
Het |
| Cfap43 |
A |
T |
19: 47,736,456 (GRCm39) |
L1345H |
possibly damaging |
Het |
| Cyld |
A |
T |
8: 89,456,138 (GRCm39) |
H396L |
probably benign |
Het |
| Cyp20a1 |
A |
G |
1: 60,418,579 (GRCm39) |
T340A |
possibly damaging |
Het |
| Czib |
A |
G |
4: 107,752,796 (GRCm39) |
N152D |
unknown |
Het |
| Dera |
A |
T |
6: 137,807,202 (GRCm39) |
I217F |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,154,539 (GRCm39) |
L247P |
probably damaging |
Het |
| Eftud2 |
G |
A |
11: 102,759,447 (GRCm39) |
T152M |
probably damaging |
Het |
| Entrep1 |
T |
C |
19: 23,965,858 (GRCm39) |
K214E |
probably damaging |
Het |
| Epb41l2 |
C |
T |
10: 25,319,674 (GRCm39) |
T169M |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,845,023 (GRCm39) |
D407G |
unknown |
Het |
| Gli3 |
T |
A |
13: 15,889,619 (GRCm39) |
C578S |
probably damaging |
Het |
| Gm6408 |
A |
G |
5: 146,419,237 (GRCm39) |
N84S |
probably benign |
Het |
| Heatr5a |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
12: 51,934,702 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
C |
A |
7: 55,838,361 (GRCm39) |
T3296K |
probably damaging |
Het |
| Hnf4g |
A |
T |
3: 3,708,133 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
C |
A |
6: 24,755,826 (GRCm39) |
Q15K |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kcna3 |
A |
G |
3: 106,943,908 (GRCm39) |
E57G |
probably damaging |
Het |
| Kcnc3 |
C |
A |
7: 44,241,020 (GRCm39) |
D237E |
probably benign |
Het |
| Map3k8 |
A |
G |
18: 4,343,137 (GRCm39) |
V130A |
probably benign |
Het |
| Mtres1 |
A |
G |
10: 43,408,933 (GRCm39) |
L70S |
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,233,311 (GRCm39) |
L610Q |
probably damaging |
Het |
| Or13p5 |
C |
A |
4: 118,592,235 (GRCm39) |
P170T |
probably damaging |
Het |
| Or5ap2 |
T |
A |
2: 85,680,246 (GRCm39) |
M150K |
probably benign |
Het |
| Or8b52 |
T |
C |
9: 38,577,064 (GRCm39) |
I25M |
probably benign |
Het |
| Pcdhb5 |
A |
T |
18: 37,454,129 (GRCm39) |
T170S |
probably benign |
Het |
| Polr3b |
T |
A |
10: 84,516,251 (GRCm39) |
H626Q |
probably benign |
Het |
| Prkg1 |
A |
T |
19: 31,742,146 (GRCm39) |
L26Q |
probably damaging |
Het |
| Prob1 |
T |
C |
18: 35,787,039 (GRCm39) |
N405S |
possibly damaging |
Het |
| Proz |
T |
G |
8: 13,123,630 (GRCm39) |
S300R |
probably damaging |
Het |
| Psg19 |
A |
G |
7: 18,527,990 (GRCm39) |
I251T |
probably benign |
Het |
| Rcbtb1 |
T |
C |
14: 59,467,401 (GRCm39) |
I413T |
possibly damaging |
Het |
| Rnf144b |
T |
A |
13: 47,382,452 (GRCm39) |
Y103N |
probably damaging |
Het |
| Rspry1 |
G |
C |
8: 95,358,747 (GRCm39) |
G194R |
probably benign |
Het |
| Scn2b |
A |
G |
9: 45,036,917 (GRCm39) |
I142V |
probably damaging |
Het |
| Spata20 |
A |
T |
11: 94,372,607 (GRCm39) |
L588H |
probably damaging |
Het |
| Stk32b |
T |
A |
5: 37,614,503 (GRCm39) |
H335L |
probably benign |
Het |
| Taar4 |
A |
C |
10: 23,836,801 (GRCm39) |
D137A |
possibly damaging |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Tek |
A |
T |
4: 94,738,074 (GRCm39) |
H708L |
probably benign |
Het |
| Tmem89 |
C |
T |
9: 108,744,095 (GRCm39) |
L132F |
unknown |
Het |
| Ugt2b38 |
T |
C |
5: 87,559,681 (GRCm39) |
I404V |
probably benign |
Het |
| Vmn1r16 |
C |
T |
6: 57,299,814 (GRCm39) |
M269I |
probably benign |
Het |
| Vmn1r201 |
A |
G |
13: 22,659,422 (GRCm39) |
K212R |
probably damaging |
Het |
| Vmn2r11 |
A |
C |
5: 109,201,626 (GRCm39) |
F293V |
probably damaging |
Het |
| Zdhhc17 |
A |
T |
10: 110,798,240 (GRCm39) |
|
probably benign |
Het |
| Zfp423 |
C |
A |
8: 88,509,338 (GRCm39) |
M335I |
probably benign |
Het |
| Zfp74 |
T |
C |
7: 29,634,079 (GRCm39) |
Y543C |
probably damaging |
Het |
| Zfp975 |
A |
T |
7: 42,312,264 (GRCm39) |
S116R |
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 |
|
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 |
|
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'- CACGGGATTGCCTTGTCTTC -3'
(R):5'- TGGCTTCTTCTAAGGAGAATACCAAG -3'
Sequencing Primer
(F):5'- CTTCCTTAGGATCGTAGTCAAAGAGG -3'
(R):5'- TCCCTGATACCAGAGTCA -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation