Incidental Mutation 'R1014:Pkp3'
| ID |
96013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkp3
|
| Ensembl Gene |
ENSMUSG00000054065 |
| Gene Name |
plakophilin 3 |
| Synonyms |
2310056L12Rik |
| MMRRC Submission |
039118-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R1014 (G1)
|
| Quality Score |
121 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140658202-140670424 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140662739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 117
(Y117C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124434
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066873]
[ENSMUST00000106039]
[ENSMUST00000159375]
[ENSMUST00000160869]
[ENSMUST00000163041]
|
| AlphaFold |
Q9QY23 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066873
AA Change: Y195C
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000069961
Gene: ENSMUSG00000054065
AA Change: Y195C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
228 |
N/A |
INTRINSIC |
|
ARM
|
350 |
390 |
8.11e-5 |
SMART |
|
ARM
|
392 |
432 |
3.24e-4 |
SMART |
|
ARM
|
489 |
536 |
3.85e0 |
SMART |
|
internal_repeat_1
|
605 |
702 |
2.91e-9 |
PROSPERO |
|
low complexity region
|
717 |
731 |
N/A |
INTRINSIC |
|
low complexity region
|
757 |
774 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106039
AA Change: Y220C
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000101654
Gene: ENSMUSG00000054065
AA Change: Y220C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
253 |
N/A |
INTRINSIC |
|
ARM
|
375 |
415 |
8.11e-5 |
SMART |
|
ARM
|
417 |
457 |
3.24e-4 |
SMART |
|
ARM
|
514 |
561 |
3.85e0 |
SMART |
|
internal_repeat_1
|
630 |
727 |
4.99e-9 |
PROSPERO |
|
low complexity region
|
742 |
756 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
799 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159375
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160615
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160869
|
| SMART Domains |
Protein: ENSMUSP00000124013
Gene: ENSMUSG00000054065
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
54 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163041
AA Change: Y117C
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000124434
Gene: ENSMUSG00000054065
AA Change: Y117C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
150 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.8%
|
| 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 act in cellular desmosome-dependent adhesion and signaling pathways. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit retarded hair growth, epidermal thickening and abnormal hair follicles that lead to secondary alopecia and acute dermatitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago4 |
T |
C |
4: 126,400,578 (GRCm39) |
R712G |
probably damaging |
Het |
| Arg1 |
C |
A |
10: 24,792,758 (GRCm39) |
V159L |
probably benign |
Het |
| Caap1 |
C |
T |
4: 94,437,383 (GRCm39) |
C193Y |
probably benign |
Het |
| Cdh12 |
A |
T |
15: 21,492,706 (GRCm39) |
M242L |
probably damaging |
Het |
| Col19a1 |
A |
T |
1: 24,340,354 (GRCm39) |
|
probably null |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,088,674 (GRCm39) |
T101A |
possibly damaging |
Het |
| Dll4 |
T |
C |
2: 119,161,638 (GRCm39) |
C407R |
probably damaging |
Het |
| Ebf4 |
T |
C |
2: 130,207,388 (GRCm39) |
S484P |
probably benign |
Het |
| Gm10300 |
A |
G |
4: 131,802,023 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
C |
13: 13,808,645 (GRCm39) |
I105T |
possibly damaging |
Het |
| Mrgprx2 |
A |
G |
7: 48,132,306 (GRCm39) |
|
probably null |
Het |
| Musk |
T |
C |
4: 58,354,156 (GRCm39) |
L403P |
possibly damaging |
Het |
| Myh11 |
T |
C |
16: 14,054,274 (GRCm39) |
K363R |
possibly damaging |
Het |
| Nadk2 |
T |
C |
15: 9,091,334 (GRCm39) |
F202L |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,077,355 (GRCm39) |
T897M |
possibly damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,383 (GRCm39) |
W86R |
probably damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,684,928 (GRCm39) |
D465G |
probably damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,556,422 (GRCm39) |
L584Q |
probably damaging |
Het |
| Pcdhb5 |
T |
C |
18: 37,455,303 (GRCm39) |
L561P |
probably damaging |
Het |
| Pck2 |
A |
G |
14: 55,779,867 (GRCm39) |
S12G |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,353 (GRCm39) |
D726G |
probably damaging |
Het |
| Pcsk5 |
G |
T |
19: 17,542,194 (GRCm39) |
A799E |
probably damaging |
Het |
| Poldip2 |
T |
A |
11: 78,405,988 (GRCm39) |
D106E |
probably damaging |
Het |
| Ppm1d |
C |
A |
11: 85,227,980 (GRCm39) |
H299N |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,000,643 (GRCm39) |
Y911C |
probably damaging |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rtf1 |
T |
G |
2: 119,550,727 (GRCm39) |
S329A |
possibly damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,054,882 (GRCm39) |
I841T |
probably benign |
Het |
| Slc2a3 |
T |
C |
6: 122,708,525 (GRCm39) |
I367V |
possibly damaging |
Het |
| Slc30a8 |
A |
G |
15: 52,194,993 (GRCm39) |
T251A |
probably damaging |
Het |
| Spryd3 |
T |
A |
15: 102,041,966 (GRCm39) |
N19Y |
probably damaging |
Het |
| Tll2 |
A |
T |
19: 41,092,290 (GRCm39) |
Y516N |
probably damaging |
Het |
| Tlr5 |
G |
A |
1: 182,803,242 (GRCm39) |
G849R |
probably benign |
Het |
| Wdr64 |
A |
G |
1: 175,583,192 (GRCm39) |
E376G |
probably damaging |
Het |
| Zfp318 |
GAA |
GAANAA |
17: 46,723,462 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Pkp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01120:Pkp3
|
APN |
7 |
140,664,095 (GRCm39) |
nonsense |
probably null |
|
|
IGL01367:Pkp3
|
APN |
7 |
140,663,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01793:Pkp3
|
APN |
7 |
140,668,817 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02140:Pkp3
|
APN |
7 |
140,669,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02231:Pkp3
|
APN |
7 |
140,664,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02708:Pkp3
|
APN |
7 |
140,669,681 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02755:Pkp3
|
APN |
7 |
140,668,318 (GRCm39) |
splice site |
probably null |
|
|
IGL03017:Pkp3
|
APN |
7 |
140,663,283 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03351:Pkp3
|
APN |
7 |
140,662,606 (GRCm39) |
missense |
probably benign |
|
|
PIT4514001:Pkp3
|
UTSW |
7 |
140,669,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0145:Pkp3
|
UTSW |
7 |
140,669,676 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0153:Pkp3
|
UTSW |
7 |
140,663,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0184:Pkp3
|
UTSW |
7 |
140,668,280 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1664:Pkp3
|
UTSW |
7 |
140,667,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1844:Pkp3
|
UTSW |
7 |
140,668,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1891:Pkp3
|
UTSW |
7 |
140,663,969 (GRCm39) |
splice site |
probably null |
|
|
R2100:Pkp3
|
UTSW |
7 |
140,663,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3772:Pkp3
|
UTSW |
7 |
140,662,259 (GRCm39) |
start codon destroyed |
probably null |
|
|
R4003:Pkp3
|
UTSW |
7 |
140,668,650 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4089:Pkp3
|
UTSW |
7 |
140,664,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4670:Pkp3
|
UTSW |
7 |
140,662,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5266:Pkp3
|
UTSW |
7 |
140,663,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5619:Pkp3
|
UTSW |
7 |
140,668,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6113:Pkp3
|
UTSW |
7 |
140,662,569 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6820:Pkp3
|
UTSW |
7 |
140,659,757 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7650:Pkp3
|
UTSW |
7 |
140,662,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7662:Pkp3
|
UTSW |
7 |
140,658,292 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8087:Pkp3
|
UTSW |
7 |
140,667,551 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8335:Pkp3
|
UTSW |
7 |
140,667,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9525:Pkp3
|
UTSW |
7 |
140,668,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Pkp3
|
UTSW |
7 |
140,669,861 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Pkp3
|
UTSW |
7 |
140,662,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTGAGTTCTGCCCACAATG -3'
(R):5'- ACCTGTGCTGGATGTAAGCTGC -3'
Sequencing Primer
(F):5'- CCACAATGGGGGCAGTG -3'
(R):5'- CTGAAGGCAGGTCAATGTCATC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation