Incidental Mutation 'R6817:Pkp4'
| ID |
537364 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkp4
|
| Ensembl Gene |
ENSMUSG00000026991 |
| Gene Name |
plakophilin 4 |
| Synonyms |
p0071, 5031422I09Rik, Armrp, 9430019K17Rik |
| MMRRC Submission |
044929-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6817 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
58991194-59185552 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59148944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 566
(Y566H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037903]
[ENSMUST00000102754]
[ENSMUST00000112577]
[ENSMUST00000123908]
[ENSMUST00000168631]
[ENSMUST00000183359]
[ENSMUST00000184332]
|
| AlphaFold |
Q68FH0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037903
AA Change: Y566H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042249
Gene: ENSMUSG00000026991
AA Change: Y566H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
41 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
478 |
N/A |
INTRINSIC |
|
ARM
|
574 |
614 |
5.68e-9 |
SMART |
|
ARM
|
618 |
659 |
1.61e-8 |
SMART |
|
ARM
|
660 |
717 |
4.54e1 |
SMART |
|
ARM
|
719 |
766 |
9.97e0 |
SMART |
|
low complexity region
|
777 |
788 |
N/A |
INTRINSIC |
|
ARM
|
876 |
916 |
3.34e-6 |
SMART |
|
ARM
|
964 |
1008 |
1.32e-4 |
SMART |
|
low complexity region
|
1057 |
1073 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102754
AA Change: Y550H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099815
Gene: ENSMUSG00000026991
AA Change: Y550H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
41 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
478 |
N/A |
INTRINSIC |
|
ARM
|
558 |
598 |
5.68e-9 |
SMART |
|
ARM
|
602 |
643 |
1.61e-8 |
SMART |
|
ARM
|
644 |
701 |
4.54e1 |
SMART |
|
ARM
|
703 |
750 |
9.97e0 |
SMART |
|
low complexity region
|
761 |
772 |
N/A |
INTRINSIC |
|
ARM
|
860 |
900 |
3.34e-6 |
SMART |
|
ARM
|
948 |
992 |
1.32e-4 |
SMART |
|
low complexity region
|
1083 |
1100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112577
AA Change: Y209H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108196
Gene: ENSMUSG00000026991
AA Change: Y209H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
126 |
137 |
N/A |
INTRINSIC |
|
ARM
|
217 |
257 |
5.68e-9 |
SMART |
|
ARM
|
261 |
302 |
1.61e-8 |
SMART |
|
ARM
|
303 |
360 |
4.54e1 |
SMART |
|
ARM
|
362 |
409 |
9.97e0 |
SMART |
|
low complexity region
|
420 |
431 |
N/A |
INTRINSIC |
|
ARM
|
519 |
559 |
3.34e-6 |
SMART |
|
ARM
|
607 |
651 |
1.32e-4 |
SMART |
|
low complexity region
|
742 |
759 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123908
AA Change: Y566H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122152
Gene: ENSMUSG00000026991
AA Change: Y566H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
41 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
478 |
N/A |
INTRINSIC |
|
ARM
|
574 |
614 |
5.68e-9 |
SMART |
|
ARM
|
618 |
659 |
1.61e-8 |
SMART |
|
ARM
|
660 |
717 |
4.54e1 |
SMART |
|
ARM
|
719 |
766 |
9.97e0 |
SMART |
|
low complexity region
|
777 |
788 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168631
AA Change: Y550H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129836
Gene: ENSMUSG00000026991
AA Change: Y550H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
41 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
478 |
N/A |
INTRINSIC |
|
ARM
|
558 |
598 |
5.68e-9 |
SMART |
|
ARM
|
602 |
643 |
1.61e-8 |
SMART |
|
ARM
|
644 |
701 |
4.54e1 |
SMART |
|
ARM
|
703 |
750 |
9.97e0 |
SMART |
|
low complexity region
|
761 |
772 |
N/A |
INTRINSIC |
|
ARM
|
860 |
900 |
3.34e-6 |
SMART |
|
ARM
|
948 |
992 |
1.32e-4 |
SMART |
|
low complexity region
|
1041 |
1057 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183359
|
| SMART Domains |
Protein: ENSMUSP00000139141
Gene: ENSMUSG00000026991
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
41 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184332
|
| Meta Mutation Damage Score |
0.6505 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
96% (47/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila 'armadillo' gene product, that are typically 42 to 45 amino acids in length. These proteins can be divided into subfamilies based on their number of repeats, their overall sequence similarity, and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be a component of desmosomal plaque and other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
PHENOTYPE: An uncharacterized gene trap insertion does not result in an obvious phenotype during the observation period early in life, although abnormalities may still develop at older age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
| Arhgap21 |
A |
C |
2: 20,885,107 (GRCm39) |
L690R |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,656,637 (GRCm39) |
N1549S |
probably benign |
Het |
| Cast |
T |
C |
13: 74,847,277 (GRCm39) |
T670A |
possibly damaging |
Het |
| Cd109 |
A |
G |
9: 78,622,237 (GRCm39) |
D1409G |
probably benign |
Het |
| Cemip |
A |
G |
7: 83,637,200 (GRCm39) |
F311S |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,744,524 (GRCm39) |
I1210F |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cops5 |
G |
A |
1: 10,100,829 (GRCm39) |
L256F |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,402,027 (GRCm39) |
|
probably null |
Het |
| Dab1 |
A |
G |
4: 104,536,743 (GRCm39) |
K178E |
probably damaging |
Het |
| Ddc |
A |
G |
11: 11,774,854 (GRCm39) |
Y346H |
probably damaging |
Het |
| Dlg2 |
T |
G |
7: 91,614,872 (GRCm39) |
D225E |
probably benign |
Het |
| Dsg1b |
A |
T |
18: 20,527,462 (GRCm39) |
I198F |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,049,807 (GRCm39) |
H155R |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,036,305 (GRCm39) |
H247R |
probably damaging |
Het |
| Esrp1 |
A |
G |
4: 11,357,552 (GRCm39) |
V355A |
probably damaging |
Het |
| Fam78b |
A |
G |
1: 166,906,419 (GRCm39) |
M193V |
possibly damaging |
Het |
| Gdpd4 |
A |
G |
7: 97,607,037 (GRCm39) |
T4A |
probably benign |
Het |
| Gm17175 |
T |
C |
14: 51,810,478 (GRCm39) |
N50D |
possibly damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,173,931 (GRCm39) |
|
probably benign |
Het |
| Lpo |
T |
C |
11: 87,700,067 (GRCm39) |
N525D |
probably benign |
Het |
| Lrrc41 |
G |
A |
4: 115,946,502 (GRCm39) |
E406K |
possibly damaging |
Het |
| Lrrc59 |
G |
C |
11: 94,520,891 (GRCm39) |
D21H |
probably damaging |
Het |
| Mgat4a |
G |
A |
1: 37,488,204 (GRCm39) |
R472* |
probably null |
Het |
| Mroh7 |
C |
T |
4: 106,571,312 (GRCm39) |
A14T |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,416,650 (GRCm39) |
S3199P |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,237,326 (GRCm39) |
Y270F |
probably damaging |
Het |
| Myo18b |
T |
A |
5: 112,978,104 (GRCm39) |
T1273S |
probably benign |
Het |
| Nos2 |
A |
T |
11: 78,836,092 (GRCm39) |
E385V |
possibly damaging |
Het |
| Nsl1 |
T |
G |
1: 190,795,471 (GRCm39) |
|
probably null |
Het |
| Nup93 |
T |
C |
8: 95,041,310 (GRCm39) |
|
probably null |
Het |
| Or5d45 |
A |
T |
2: 88,153,107 (GRCm39) |
M314K |
probably benign |
Het |
| Pcna-ps2 |
T |
G |
19: 9,260,861 (GRCm39) |
M40R |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,377,407 (GRCm39) |
E148G |
probably damaging |
Het |
| Pirt |
A |
G |
11: 66,816,737 (GRCm39) |
E16G |
probably damaging |
Het |
| Psg17 |
A |
C |
7: 18,548,565 (GRCm39) |
V402G |
probably damaging |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Rassf7 |
A |
G |
7: 140,797,360 (GRCm39) |
E191G |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,353,111 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
C |
T |
5: 53,221,370 (GRCm39) |
T272I |
probably damaging |
Het |
| Sos2 |
T |
C |
12: 69,664,935 (GRCm39) |
E332G |
probably benign |
Het |
| Spdye4c |
T |
C |
2: 128,438,430 (GRCm39) |
Y263H |
probably damaging |
Het |
| Tmprss11f |
C |
T |
5: 86,704,793 (GRCm39) |
V42I |
probably benign |
Het |
| Trpv5 |
T |
A |
6: 41,634,941 (GRCm39) |
N463Y |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 188,595,061 (GRCm39) |
Q3831L |
probably benign |
Het |
| Wdr41 |
C |
A |
13: 95,133,812 (GRCm39) |
|
probably null |
Het |
| Zfand1 |
A |
G |
3: 10,405,884 (GRCm39) |
C246R |
probably benign |
Het |
|
| Other mutations in Pkp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Pkp4
|
APN |
2 |
59,169,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00987:Pkp4
|
APN |
2 |
59,138,701 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01321:Pkp4
|
APN |
2 |
59,180,971 (GRCm39) |
splice site |
probably null |
|
|
IGL01393:Pkp4
|
APN |
2 |
59,178,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02058:Pkp4
|
APN |
2 |
59,142,073 (GRCm39) |
nonsense |
probably null |
|
|
IGL02313:Pkp4
|
APN |
2 |
59,140,598 (GRCm39) |
nonsense |
probably null |
|
|
IGL02635:Pkp4
|
APN |
2 |
59,135,842 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03017:Pkp4
|
APN |
2 |
59,096,769 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03051:Pkp4
|
APN |
2 |
59,142,106 (GRCm39) |
missense |
probably benign |
0.29 |
|
Degrasso
|
UTSW |
2 |
59,148,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
melted
|
UTSW |
2 |
59,165,276 (GRCm39) |
critical splice donor site |
probably null |
|
|
BB004:Pkp4
|
UTSW |
2 |
59,142,098 (GRCm39) |
missense |
probably damaging |
0.97 |
|
BB014:Pkp4
|
UTSW |
2 |
59,142,098 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0206:Pkp4
|
UTSW |
2 |
59,096,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0207:Pkp4
|
UTSW |
2 |
59,135,832 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0208:Pkp4
|
UTSW |
2 |
59,096,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0325:Pkp4
|
UTSW |
2 |
59,148,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0620:Pkp4
|
UTSW |
2 |
59,152,987 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0781:Pkp4
|
UTSW |
2 |
59,169,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1110:Pkp4
|
UTSW |
2 |
59,169,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1537:Pkp4
|
UTSW |
2 |
59,045,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1607:Pkp4
|
UTSW |
2 |
59,152,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1654:Pkp4
|
UTSW |
2 |
59,167,963 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1760:Pkp4
|
UTSW |
2 |
59,142,185 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2051:Pkp4
|
UTSW |
2 |
59,165,248 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2871:Pkp4
|
UTSW |
2 |
59,138,500 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2871:Pkp4
|
UTSW |
2 |
59,138,500 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3161:Pkp4
|
UTSW |
2 |
59,138,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4261:Pkp4
|
UTSW |
2 |
59,135,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4342:Pkp4
|
UTSW |
2 |
59,180,952 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4731:Pkp4
|
UTSW |
2 |
59,165,276 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4799:Pkp4
|
UTSW |
2 |
59,172,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4913:Pkp4
|
UTSW |
2 |
59,135,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5383:Pkp4
|
UTSW |
2 |
59,140,617 (GRCm39) |
nonsense |
probably null |
|
|
R5418:Pkp4
|
UTSW |
2 |
59,140,506 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5906:Pkp4
|
UTSW |
2 |
59,135,420 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5946:Pkp4
|
UTSW |
2 |
59,135,411 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6360:Pkp4
|
UTSW |
2 |
59,045,091 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6616:Pkp4
|
UTSW |
2 |
59,180,896 (GRCm39) |
nonsense |
probably null |
|
|
R7390:Pkp4
|
UTSW |
2 |
59,140,484 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7408:Pkp4
|
UTSW |
2 |
59,142,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7464:Pkp4
|
UTSW |
2 |
59,138,481 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7702:Pkp4
|
UTSW |
2 |
59,138,757 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7787:Pkp4
|
UTSW |
2 |
59,152,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7927:Pkp4
|
UTSW |
2 |
59,142,098 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8055:Pkp4
|
UTSW |
2 |
59,138,359 (GRCm39) |
missense |
probably benign |
|
|
R8359:Pkp4
|
UTSW |
2 |
59,180,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8465:Pkp4
|
UTSW |
2 |
59,172,525 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8555:Pkp4
|
UTSW |
2 |
59,138,379 (GRCm39) |
nonsense |
probably null |
|
|
R8909:Pkp4
|
UTSW |
2 |
59,184,758 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9224:Pkp4
|
UTSW |
2 |
59,144,738 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9397:Pkp4
|
UTSW |
2 |
59,148,856 (GRCm39) |
nonsense |
probably null |
|
|
R9486:Pkp4
|
UTSW |
2 |
59,138,722 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9583:Pkp4
|
UTSW |
2 |
59,178,104 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9732:Pkp4
|
UTSW |
2 |
59,138,797 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Pkp4
|
UTSW |
2 |
59,172,588 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCCTCTGCAAACATTGATTGG -3'
(R):5'- AACCAATGCTCTTACCTGCCG -3'
Sequencing Primer
(F):5'- AGATTTTTGTAACTTCTCATGCCTG -3'
(R):5'- GCCGAGCCATCTTTCCAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation