Incidental Mutation 'R2190:Pkp1'
| ID |
238000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkp1
|
| Ensembl Gene |
ENSMUSG00000026413 |
| Gene Name |
plakophilin 1 |
| Synonyms |
|
| MMRRC Submission |
040192-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.618)
|
| Stock # |
R2190 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
135799133-135846945 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135807709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 520
(S520G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027667]
[ENSMUST00000163260]
[ENSMUST00000189805]
|
| AlphaFold |
P97350 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027667
AA Change: S520G
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000027667
Gene: ENSMUSG00000026413
AA Change: S520G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
60 |
N/A |
INTRINSIC |
|
ARM
|
277 |
317 |
2.65e-9 |
SMART |
|
ARM
|
319 |
360 |
3.47e-4 |
SMART |
|
ARM
|
361 |
416 |
1.3e1 |
SMART |
|
ARM
|
417 |
464 |
5.59e1 |
SMART |
|
ARM
|
516 |
557 |
8.48e1 |
SMART |
|
ARM
|
565 |
604 |
3.85e0 |
SMART |
|
ARM
|
605 |
650 |
5.76e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132793
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163260
AA Change: S520G
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000128418
Gene: ENSMUSG00000026413
AA Change: S520G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
60 |
N/A |
INTRINSIC |
|
ARM
|
277 |
317 |
2.65e-9 |
SMART |
|
ARM
|
319 |
360 |
3.47e-4 |
SMART |
|
ARM
|
361 |
416 |
1.3e1 |
SMART |
|
ARM
|
417 |
464 |
5.59e1 |
SMART |
|
ARM
|
516 |
557 |
8.48e1 |
SMART |
|
ARM
|
565 |
604 |
3.85e0 |
SMART |
|
ARM
|
605 |
650 |
5.76e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189805
|
| SMART Domains |
Protein: ENSMUSP00000140883
Gene: ENSMUSG00000026413
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
60 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced birth weight, absent whiskers, and neonatal lethality associated with skin fragility, skin lesions, loss of desmosomal adhesion, and impaired skin barrier function due to abnormal tight junction formation. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted(4)
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
T |
8: 111,766,785 (GRCm39) |
T56S |
probably damaging |
Het |
| Acbd6 |
A |
T |
1: 155,500,652 (GRCm39) |
H204L |
probably damaging |
Het |
| Acnat2 |
T |
A |
4: 49,383,551 (GRCm39) |
M1L |
probably benign |
Het |
| Adgrg5 |
A |
T |
8: 95,660,579 (GRCm39) |
I73F |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,219,487 (GRCm39) |
T474A |
probably benign |
Het |
| Arid3a |
A |
G |
10: 79,782,365 (GRCm39) |
D252G |
possibly damaging |
Het |
| Aspg |
G |
T |
12: 112,091,322 (GRCm39) |
E501D |
probably damaging |
Het |
| Bicral |
A |
G |
17: 47,136,049 (GRCm39) |
I387T |
probably damaging |
Het |
| Bub1 |
T |
C |
2: 127,652,645 (GRCm39) |
N574S |
probably benign |
Het |
| Casr |
G |
A |
16: 36,315,778 (GRCm39) |
T764M |
probably damaging |
Het |
| Ccdc60 |
A |
G |
5: 116,295,639 (GRCm39) |
S259P |
probably damaging |
Het |
| Ccne2 |
A |
T |
4: 11,197,241 (GRCm39) |
N181I |
probably benign |
Het |
| Chd4 |
A |
G |
6: 125,091,260 (GRCm39) |
D89G |
probably benign |
Het |
| Col25a1 |
C |
T |
3: 130,378,364 (GRCm39) |
P606S |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,680,491 (GRCm39) |
S582P |
possibly damaging |
Het |
| Dlg4 |
A |
G |
11: 69,933,430 (GRCm39) |
D619G |
probably damaging |
Het |
| Elavl2 |
C |
T |
4: 91,152,331 (GRCm39) |
V129I |
probably benign |
Het |
| Epha3 |
A |
G |
16: 63,366,552 (GRCm39) |
I965T |
probably benign |
Het |
| Fbxw16 |
G |
A |
9: 109,265,739 (GRCm39) |
S360L |
probably damaging |
Het |
| Fgf14 |
T |
C |
14: 124,221,330 (GRCm39) |
Y158C |
probably damaging |
Het |
| Gm44511 |
A |
G |
6: 128,803,163 (GRCm39) |
I16T |
possibly damaging |
Het |
| Has2 |
C |
A |
15: 56,531,183 (GRCm39) |
V511F |
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,109,185 (GRCm39) |
R1025C |
probably damaging |
Het |
| Hsd17b12 |
T |
C |
2: 93,864,408 (GRCm39) |
Y233C |
probably benign |
Het |
| Il36rn |
A |
T |
2: 24,170,831 (GRCm39) |
I43F |
probably damaging |
Het |
| Inpp5b |
T |
A |
4: 124,678,988 (GRCm39) |
I465N |
probably damaging |
Het |
| Irak2 |
T |
A |
6: 113,663,904 (GRCm39) |
N423K |
probably damaging |
Het |
| Itga2 |
C |
A |
13: 115,007,141 (GRCm39) |
V396L |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,874,685 (GRCm39) |
T212A |
possibly damaging |
Het |
| Lipo2 |
A |
T |
19: 33,725,969 (GRCm39) |
N94K |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,390,869 (GRCm39) |
T1519A |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,353,005 (GRCm39) |
V1558A |
probably benign |
Het |
| Mocos |
C |
A |
18: 24,797,114 (GRCm39) |
H91Q |
probably benign |
Het |
| Myh14 |
G |
A |
7: 44,310,487 (GRCm39) |
T132I |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,322,237 (GRCm39) |
D803E |
possibly damaging |
Het |
| Ntsr2 |
T |
A |
12: 16,704,018 (GRCm39) |
I173N |
probably damaging |
Het |
| Or14c43 |
A |
G |
7: 86,115,573 (GRCm39) |
Y318C |
possibly damaging |
Het |
| Or5b105 |
T |
G |
19: 13,079,857 (GRCm39) |
K270N |
probably damaging |
Het |
| Pitx3 |
T |
C |
19: 46,125,486 (GRCm39) |
Y86C |
probably damaging |
Het |
| Pygo1 |
C |
T |
9: 72,852,529 (GRCm39) |
Q239* |
probably null |
Het |
| Rab13 |
A |
G |
3: 90,130,851 (GRCm39) |
E68G |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,525,201 (GRCm39) |
E797G |
probably benign |
Het |
| Slc5a1 |
T |
C |
5: 33,261,937 (GRCm39) |
|
probably null |
Het |
| Slco1c1 |
A |
G |
6: 141,508,893 (GRCm39) |
T518A |
probably benign |
Het |
| Spint1 |
A |
G |
2: 119,068,661 (GRCm39) |
I132V |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,544,601 (GRCm39) |
I4514N |
probably benign |
Het |
| Tenm3 |
T |
G |
8: 48,848,579 (GRCm39) |
S87R |
probably damaging |
Het |
| Thap4 |
G |
T |
1: 93,678,381 (GRCm39) |
P135Q |
probably damaging |
Het |
| Tmed9 |
A |
G |
13: 55,741,156 (GRCm39) |
E57G |
probably benign |
Het |
| Tnrc18 |
C |
T |
5: 142,761,644 (GRCm39) |
V594I |
unknown |
Het |
| Trmt1 |
A |
T |
8: 85,416,470 (GRCm39) |
K64* |
probably null |
Het |
| Usf2 |
A |
G |
7: 30,654,606 (GRCm39) |
V198A |
probably damaging |
Het |
| Usp14 |
A |
T |
18: 10,007,835 (GRCm39) |
C168S |
probably damaging |
Het |
| Vav3 |
C |
A |
3: 109,470,130 (GRCm39) |
T525K |
probably damaging |
Het |
| Vmn1r52 |
A |
G |
6: 90,156,151 (GRCm39) |
I152V |
probably benign |
Het |
| Vmn2r81 |
A |
G |
10: 79,104,085 (GRCm39) |
D236G |
possibly damaging |
Het |
| Wdr19 |
G |
A |
5: 65,401,509 (GRCm39) |
V975I |
possibly damaging |
Het |
|
| Other mutations in Pkp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00943:Pkp1
|
APN |
1 |
135,805,922 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02113:Pkp1
|
APN |
1 |
135,811,652 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02149:Pkp1
|
APN |
1 |
135,814,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02582:Pkp1
|
APN |
1 |
135,817,664 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02655:Pkp1
|
APN |
1 |
135,817,511 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03166:Pkp1
|
APN |
1 |
135,805,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0008:Pkp1
|
UTSW |
1 |
135,803,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0180:Pkp1
|
UTSW |
1 |
135,814,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0368:Pkp1
|
UTSW |
1 |
135,814,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0368:Pkp1
|
UTSW |
1 |
135,803,421 (GRCm39) |
missense |
probably benign |
|
|
R0601:Pkp1
|
UTSW |
1 |
135,805,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0725:Pkp1
|
UTSW |
1 |
135,808,478 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1414:Pkp1
|
UTSW |
1 |
135,811,823 (GRCm39) |
splice site |
probably benign |
|
|
R1926:Pkp1
|
UTSW |
1 |
135,805,411 (GRCm39) |
missense |
probably benign |
|
|
R2082:Pkp1
|
UTSW |
1 |
135,812,714 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2249:Pkp1
|
UTSW |
1 |
135,808,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4457:Pkp1
|
UTSW |
1 |
135,803,362 (GRCm39) |
makesense |
probably null |
|
|
R4838:Pkp1
|
UTSW |
1 |
135,810,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4885:Pkp1
|
UTSW |
1 |
135,846,690 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4995:Pkp1
|
UTSW |
1 |
135,808,593 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5436:Pkp1
|
UTSW |
1 |
135,846,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5440:Pkp1
|
UTSW |
1 |
135,810,230 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5652:Pkp1
|
UTSW |
1 |
135,810,335 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5898:Pkp1
|
UTSW |
1 |
135,810,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5908:Pkp1
|
UTSW |
1 |
135,846,621 (GRCm39) |
nonsense |
probably null |
|
|
R6006:Pkp1
|
UTSW |
1 |
135,805,406 (GRCm39) |
splice site |
probably null |
|
|
R6013:Pkp1
|
UTSW |
1 |
135,811,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6218:Pkp1
|
UTSW |
1 |
135,807,646 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6232:Pkp1
|
UTSW |
1 |
135,814,599 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7000:Pkp1
|
UTSW |
1 |
135,817,692 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7799:Pkp1
|
UTSW |
1 |
135,817,695 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7883:Pkp1
|
UTSW |
1 |
135,812,641 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8486:Pkp1
|
UTSW |
1 |
135,846,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8822:Pkp1
|
UTSW |
1 |
135,807,661 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8848:Pkp1
|
UTSW |
1 |
135,807,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9099:Pkp1
|
UTSW |
1 |
135,805,429 (GRCm39) |
missense |
probably benign |
|
|
R9498:Pkp1
|
UTSW |
1 |
135,817,820 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCGAGAAAGGATAGTCTG -3'
(R):5'- AGAGAACCATGGTCCATTCCC -3'
Sequencing Primer
(F):5'- ATAGTCTGGTGGGAGATGCAG -3'
(R):5'- CACTTTGGTGATTCTAGGATGCACAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation