Incidental Mutation 'R0942:Pkp2'
| ID |
82772 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkp2
|
| Ensembl Gene |
ENSMUSG00000041957 |
| Gene Name |
plakophilin 2 |
| Synonyms |
Pkp2l, 1200008D14Rik, 1200012P04Rik |
| MMRRC Submission |
039081-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0942 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
16031209-16090576 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 16043894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 216
(G216V)
|
| 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: G216V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036890
Gene: ENSMUSG00000041957
AA Change: G216V
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
95% (40/42) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810064F22Rik |
C |
T |
9: 22,119,367 (GRCm39) |
|
noncoding transcript |
Het |
| Aass |
C |
T |
6: 23,075,151 (GRCm39) |
|
probably benign |
Het |
| Abcb5 |
C |
A |
12: 118,869,933 (GRCm39) |
V742F |
possibly damaging |
Het |
| Abcd4 |
A |
G |
12: 84,659,602 (GRCm39) |
I165T |
probably damaging |
Het |
| Acer3 |
T |
C |
7: 97,906,949 (GRCm39) |
Y119C |
probably damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,568,789 (GRCm39) |
|
probably benign |
Het |
| Ascc2 |
T |
A |
11: 4,618,380 (GRCm39) |
I325N |
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,074,591 (GRCm39) |
I1050N |
probably damaging |
Het |
| Brms1l |
T |
C |
12: 55,912,742 (GRCm39) |
V245A |
probably benign |
Het |
| Cadps2 |
T |
A |
6: 23,263,561 (GRCm39) |
D1270V |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,246,639 (GRCm39) |
M936K |
possibly damaging |
Het |
| Cenpj |
A |
G |
14: 56,792,666 (GRCm39) |
|
probably benign |
Het |
| Dner |
T |
C |
1: 84,563,030 (GRCm39) |
|
probably benign |
Het |
| Dzip1 |
T |
A |
14: 119,124,609 (GRCm39) |
R555* |
probably null |
Het |
| Enpp4 |
A |
T |
17: 44,412,772 (GRCm39) |
L254* |
probably null |
Het |
| Erich3 |
T |
A |
3: 154,444,788 (GRCm39) |
D518E |
probably benign |
Het |
| Gli2 |
G |
A |
1: 118,765,236 (GRCm39) |
R972C |
probably damaging |
Het |
| Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
| Grb7 |
T |
C |
11: 98,344,634 (GRCm39) |
Y346H |
probably damaging |
Het |
| Heg1 |
T |
C |
16: 33,581,173 (GRCm39) |
L1192P |
probably damaging |
Het |
| Il16 |
T |
A |
7: 83,312,349 (GRCm39) |
Q445L |
probably benign |
Het |
| Il17d |
C |
T |
14: 57,779,777 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,520,301 (GRCm39) |
N1936K |
probably benign |
Het |
| Lrrc45 |
T |
C |
11: 120,609,064 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Mphosph9 |
T |
A |
5: 124,400,100 (GRCm39) |
R934* |
probably null |
Het |
| Nek11 |
T |
A |
9: 105,172,570 (GRCm39) |
|
probably null |
Het |
| Nf1 |
T |
C |
11: 79,329,537 (GRCm39) |
S634P |
probably benign |
Het |
| Or14c40 |
T |
A |
7: 86,313,314 (GRCm39) |
M148K |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,396,355 (GRCm39) |
V1959A |
probably benign |
Het |
| Ppp1r16a |
T |
C |
15: 76,578,211 (GRCm39) |
L394P |
probably damaging |
Het |
| Ptprc |
G |
A |
1: 137,996,139 (GRCm39) |
Q1070* |
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rprd2 |
A |
T |
3: 95,672,730 (GRCm39) |
I891N |
probably damaging |
Het |
| Speer1e |
A |
T |
5: 11,236,488 (GRCm39) |
T174S |
probably benign |
Het |
| Taf15 |
T |
C |
11: 83,389,932 (GRCm39) |
I40T |
probably damaging |
Het |
| Tshz1 |
A |
G |
18: 84,031,178 (GRCm39) |
Y1077H |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,693,833 (GRCm39) |
E223G |
possibly 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 |
|
R1236:Pkp2
|
UTSW |
16 |
16,043,766 (GRCm39) |
missense |
probably benign |
|
|
R1265:Pkp2
|
UTSW |
16 |
16,043,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GCACAGTACAGTTCCCAGAAGTCAG -3'
(R):5'- TGTAAGGCAGGTTTGGAGGCTCAC -3'
Sequencing Primer
(F):5'- CAGCCTCTGAGGAGACTTG -3'
(R):5'- GTCAGCGAAGACACTCCTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation