Incidental Mutation 'R1265:Pkp2'
ID |
151152 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pkp2
|
Ensembl Gene |
ENSMUSG00000041957 |
Gene Name |
plakophilin 2 |
Synonyms |
Pkp2l, 1200008D14Rik, 1200012P04Rik |
MMRRC Submission |
039332-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1265 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
16031209-16090576 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 16043168 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 76
(N76S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036890
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039408]
[ENSMUST00000161342]
[ENSMUST00000162150]
|
AlphaFold |
Q9CQ73 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039408
AA Change: N76S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000036890 Gene: ENSMUSG00000041957 AA Change: N76S
Domain | Start | End | E-Value | Type |
low complexity region
|
258 |
271 |
N/A |
INTRINSIC |
ARM
|
342 |
382 |
7.5e-9 |
SMART |
ARM
|
384 |
425 |
5.14e-7 |
SMART |
Blast:ARM
|
426 |
481 |
2e-29 |
BLAST |
ARM
|
484 |
530 |
8.76e-1 |
SMART |
ARM
|
631 |
672 |
2.98e-3 |
SMART |
Blast:ARM
|
677 |
718 |
2e-11 |
BLAST |
Blast:ARM
|
720 |
763 |
5e-17 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161342
|
SMART Domains |
Protein: ENSMUSP00000125219 Gene: ENSMUSG00000041957
Domain | Start | End | E-Value | Type |
low complexity region
|
258 |
271 |
N/A |
INTRINSIC |
Pfam:Arm
|
342 |
382 |
3.5e-10 |
PFAM |
Pfam:Arm
|
384 |
425 |
4.7e-9 |
PFAM |
Blast:ARM
|
426 |
477 |
5e-27 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162150
|
SMART Domains |
Protein: ENSMUSP00000124898 Gene: ENSMUSG00000041957
Domain | Start | End | E-Value | Type |
low complexity region
|
258 |
271 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
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 gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice display embryonic lethality with impaired heart formation, hemopericardium, and hemoperitoneum. [provided by MGI curators]
|
Allele List at MGI |
All alleles(6) : Targeted(2) Gene trapped(4)
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi1 |
T |
C |
2: 22,836,734 (GRCm39) |
D316G |
possibly damaging |
Het |
Aebp1 |
T |
C |
11: 5,821,740 (GRCm39) |
V713A |
probably damaging |
Het |
Alg2 |
T |
C |
4: 47,474,289 (GRCm39) |
|
probably benign |
Het |
Ank1 |
T |
A |
8: 23,607,053 (GRCm39) |
V1273E |
possibly damaging |
Het |
Cntnap5a |
A |
G |
1: 116,356,248 (GRCm39) |
T760A |
possibly damaging |
Het |
Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
Igf2r |
A |
T |
17: 12,913,011 (GRCm39) |
V1779E |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 41,366,666 (GRCm39) |
V537M |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
Ly6h |
T |
A |
15: 75,438,032 (GRCm39) |
M27L |
probably benign |
Het |
Nphs2 |
A |
G |
1: 156,146,317 (GRCm39) |
T173A |
probably damaging |
Het |
Nsd3 |
T |
C |
8: 26,172,578 (GRCm39) |
V779A |
probably benign |
Het |
Or3a1d |
T |
C |
11: 74,237,766 (GRCm39) |
I95V |
probably benign |
Het |
Pdzd7 |
T |
C |
19: 45,029,124 (GRCm39) |
D82G |
possibly damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,647,625 (GRCm39) |
S976P |
probably benign |
Het |
Slc38a3 |
A |
G |
9: 107,529,185 (GRCm39) |
F489S |
probably damaging |
Het |
Sox11 |
T |
C |
12: 27,391,735 (GRCm39) |
T225A |
probably benign |
Het |
Tbx10 |
T |
C |
19: 4,046,625 (GRCm39) |
F35S |
probably damaging |
Het |
Tcf4 |
T |
C |
18: 69,776,003 (GRCm39) |
M40T |
possibly damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Thsd7a |
T |
C |
6: 12,317,418 (GRCm39) |
N1630S |
probably damaging |
Het |
Urb2 |
A |
G |
8: 124,751,892 (GRCm39) |
D75G |
probably damaging |
Het |
|
Other mutations in Pkp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
P0014:Pkp2
|
UTSW |
16 |
16,058,386 (GRCm39) |
missense |
probably benign |
0.08 |
R0131:Pkp2
|
UTSW |
16 |
16,058,577 (GRCm39) |
splice site |
probably benign |
|
R0581:Pkp2
|
UTSW |
16 |
16,087,647 (GRCm39) |
splice site |
probably benign |
|
R0722:Pkp2
|
UTSW |
16 |
16,064,892 (GRCm39) |
missense |
probably benign |
|
R0882:Pkp2
|
UTSW |
16 |
16,087,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R0942:Pkp2
|
UTSW |
16 |
16,043,894 (GRCm39) |
missense |
probably benign |
|
R1236:Pkp2
|
UTSW |
16 |
16,043,766 (GRCm39) |
missense |
probably benign |
|
R1674:Pkp2
|
UTSW |
16 |
16,058,422 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1687:Pkp2
|
UTSW |
16 |
16,086,573 (GRCm39) |
critical splice donor site |
probably null |
|
R1769:Pkp2
|
UTSW |
16 |
16,080,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R2094:Pkp2
|
UTSW |
16 |
16,064,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R4360:Pkp2
|
UTSW |
16 |
16,086,546 (GRCm39) |
missense |
probably benign |
0.03 |
R4739:Pkp2
|
UTSW |
16 |
16,048,588 (GRCm39) |
missense |
probably damaging |
0.99 |
R5162:Pkp2
|
UTSW |
16 |
16,078,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R5607:Pkp2
|
UTSW |
16 |
16,078,239 (GRCm39) |
missense |
probably damaging |
0.98 |
R6334:Pkp2
|
UTSW |
16 |
16,043,933 (GRCm39) |
missense |
probably damaging |
0.99 |
R6918:Pkp2
|
UTSW |
16 |
16,090,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R7274:Pkp2
|
UTSW |
16 |
16,064,793 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7408:Pkp2
|
UTSW |
16 |
16,079,537 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7698:Pkp2
|
UTSW |
16 |
16,058,523 (GRCm39) |
missense |
probably benign |
0.01 |
R7788:Pkp2
|
UTSW |
16 |
16,043,272 (GRCm39) |
missense |
probably benign |
0.01 |
R8030:Pkp2
|
UTSW |
16 |
16,064,774 (GRCm39) |
missense |
probably benign |
|
R8056:Pkp2
|
UTSW |
16 |
16,031,264 (GRCm39) |
missense |
probably benign |
0.28 |
R8161:Pkp2
|
UTSW |
16 |
16,031,313 (GRCm39) |
missense |
probably damaging |
0.99 |
R8253:Pkp2
|
UTSW |
16 |
16,086,406 (GRCm39) |
missense |
probably damaging |
1.00 |
R8681:Pkp2
|
UTSW |
16 |
16,048,545 (GRCm39) |
missense |
probably benign |
|
R9259:Pkp2
|
UTSW |
16 |
16,043,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R9570:Pkp2
|
UTSW |
16 |
16,078,278 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9720:Pkp2
|
UTSW |
16 |
16,087,584 (GRCm39) |
missense |
probably benign |
0.18 |
Z1176:Pkp2
|
UTSW |
16 |
16,048,564 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGCTACCTGCAACTCAGAAAGAGAG -3'
(R):5'- GCAGTCATTCCAGCCTGTATGAGAG -3'
Sequencing Primer
(F):5'- GATTACTGGCATACACTACTGGC -3'
(R):5'- TGAAGCATATTGACCTGACCG -3'
|
Posted On |
2014-01-29 |