Incidental Mutation 'R6360:Pkp4'
| ID |
513048 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkp4
|
| Ensembl Gene |
ENSMUSG00000026991 |
| Gene Name |
plakophilin 4 |
| Synonyms |
p0071, 5031422I09Rik, Armrp, 9430019K17Rik |
| MMRRC Submission |
044510-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6360 (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 A
at 59045091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 22
(V22D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037903]
[ENSMUST00000102754]
[ENSMUST00000123908]
[ENSMUST00000168631]
[ENSMUST00000183359]
[ENSMUST00000184332]
[ENSMUST00000184705]
|
| AlphaFold |
Q68FH0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037903
AA Change: V22D
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000042249
Gene: ENSMUSG00000026991
AA Change: V22D
| 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 benign
Transcript: ENSMUST00000102754
AA Change: V22D
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000099815
Gene: ENSMUSG00000026991
AA Change: V22D
| 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 |
noncoding transcript
Transcript: ENSMUST00000122888
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123908
AA Change: V22D
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000122152
Gene: ENSMUSG00000026991
AA Change: V22D
| 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 |
noncoding transcript
Transcript: ENSMUST00000126749
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168631
AA Change: V22D
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000129836
Gene: ENSMUSG00000026991
AA Change: V22D
| 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
AA Change: V22D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000139141
Gene: ENSMUSG00000026991
AA Change: V22D
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
41 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184332
AA Change: V22D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184705
AA Change: V22D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183625
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (59/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
G |
A |
8: 77,985,831 (GRCm39) |
Q657* |
probably null |
Het |
| Car15 |
T |
C |
16: 17,655,930 (GRCm39) |
T560A |
probably benign |
Het |
| Cass4 |
C |
T |
2: 172,274,531 (GRCm39) |
H769Y |
probably damaging |
Het |
| Cdh6 |
A |
G |
15: 13,041,546 (GRCm39) |
I506T |
possibly damaging |
Het |
| Clstn3 |
G |
T |
6: 124,415,388 (GRCm39) |
R659S |
possibly damaging |
Het |
| Cntnap5b |
C |
T |
1: 100,359,461 (GRCm39) |
R695* |
probably null |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Dab2ip |
A |
G |
2: 35,600,278 (GRCm39) |
H355R |
probably benign |
Het |
| Dennd2a |
C |
T |
6: 39,470,076 (GRCm39) |
A539T |
probably benign |
Het |
| Dnajc18 |
T |
C |
18: 35,819,762 (GRCm39) |
E173G |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,857,899 (GRCm39) |
I1472V |
probably benign |
Het |
| Esco1 |
A |
T |
18: 10,574,931 (GRCm39) |
F714I |
probably damaging |
Het |
| Fam107a |
T |
G |
14: 8,299,619 (GRCm38) |
H73P |
probably damaging |
Het |
| Flg |
A |
G |
3: 93,197,908 (GRCm39) |
|
probably benign |
Het |
| Fyn |
C |
A |
10: 39,402,879 (GRCm39) |
T217K |
possibly damaging |
Het |
| Gbp9 |
T |
C |
5: 105,231,596 (GRCm39) |
D330G |
probably benign |
Het |
| Gin1 |
T |
C |
1: 97,720,264 (GRCm39) |
S509P |
possibly damaging |
Het |
| Gm17067 |
A |
C |
7: 42,357,906 (GRCm39) |
S199A |
probably benign |
Het |
| Grk4 |
A |
T |
5: 34,831,881 (GRCm39) |
K50M |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,629,481 (GRCm39) |
H272R |
probably benign |
Het |
| Ipo7 |
T |
A |
7: 109,626,336 (GRCm39) |
L48Q |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,756,191 (GRCm39) |
I515T |
probably damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,351,208 (GRCm39) |
S190R |
possibly damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,064,096 (GRCm39) |
N336S |
probably benign |
Het |
| Lbr |
G |
T |
1: 181,659,720 (GRCm39) |
D158E |
probably benign |
Het |
| Mphosph10 |
T |
C |
7: 64,039,703 (GRCm39) |
Q89R |
probably benign |
Het |
| Nectin3 |
T |
A |
16: 46,231,472 (GRCm39) |
T21S |
probably benign |
Het |
| Numb |
C |
A |
12: 83,844,036 (GRCm39) |
R383L |
probably damaging |
Het |
| Or2p2 |
A |
T |
13: 21,256,753 (GRCm39) |
N239K |
probably damaging |
Het |
| Or9a7 |
G |
T |
6: 40,521,647 (GRCm39) |
Q89K |
possibly damaging |
Het |
| Pcdhb11 |
A |
T |
18: 37,555,212 (GRCm39) |
I181F |
probably benign |
Het |
| Pcgf2 |
T |
A |
11: 97,583,235 (GRCm39) |
|
probably null |
Het |
| Pdzd8 |
T |
C |
19: 59,289,415 (GRCm39) |
T662A |
probably benign |
Het |
| Pex13 |
A |
C |
11: 23,605,690 (GRCm39) |
V180G |
probably benign |
Het |
| Pira1 |
A |
T |
7: 3,739,503 (GRCm39) |
L455Q |
probably damaging |
Het |
| Prkn |
T |
C |
17: 12,222,939 (GRCm39) |
F363S |
probably damaging |
Het |
| Prpf4b |
A |
C |
13: 35,085,416 (GRCm39) |
D954A |
probably damaging |
Het |
| Rfx8 |
T |
C |
1: 39,720,125 (GRCm39) |
I317V |
probably benign |
Het |
| Rnaseh2b |
T |
C |
14: 62,598,868 (GRCm39) |
S198P |
probably damaging |
Het |
| Rock1 |
A |
T |
18: 10,116,778 (GRCm39) |
C453S |
possibly damaging |
Het |
| Saxo4 |
T |
C |
19: 10,456,845 (GRCm39) |
N167D |
probably damaging |
Het |
| Scarf1 |
G |
T |
11: 75,406,495 (GRCm39) |
G260W |
probably damaging |
Het |
| Scyl1 |
T |
C |
19: 5,810,599 (GRCm39) |
E538G |
probably damaging |
Het |
| Sec14l5 |
A |
T |
16: 4,990,859 (GRCm39) |
I267F |
probably damaging |
Het |
| Senp6 |
T |
A |
9: 80,021,088 (GRCm39) |
V256D |
probably benign |
Het |
| Sf3b4 |
G |
A |
3: 96,084,044 (GRCm39) |
|
probably benign |
Het |
| Ssh1 |
T |
C |
5: 114,099,408 (GRCm39) |
|
probably null |
Het |
| Tas2r143 |
A |
C |
6: 42,377,769 (GRCm39) |
M200L |
probably benign |
Het |
| Tbc1d22a |
C |
T |
15: 86,098,830 (GRCm39) |
P19S |
probably damaging |
Het |
| Tent5b |
T |
C |
4: 133,214,067 (GRCm39) |
F313L |
probably damaging |
Het |
| Tmc5 |
T |
A |
7: 118,233,189 (GRCm39) |
M1K |
probably null |
Het |
| Tnc |
T |
C |
4: 63,918,970 (GRCm39) |
Y1151C |
probably damaging |
Het |
| Tshz3 |
A |
G |
7: 36,468,866 (GRCm39) |
E285G |
probably damaging |
Het |
| Txndc11 |
C |
T |
16: 10,902,656 (GRCm39) |
V664M |
probably damaging |
Het |
| Ube2g1 |
A |
T |
11: 72,553,908 (GRCm39) |
N20Y |
probably damaging |
Het |
| Ufl1 |
T |
A |
4: 25,265,476 (GRCm39) |
I369L |
probably benign |
Het |
| Vwf |
A |
T |
6: 125,660,489 (GRCm39) |
T2666S |
probably benign |
Het |
| Yif1a |
A |
G |
19: 5,142,369 (GRCm39) |
M259V |
probably benign |
Het |
| Zbtb46 |
T |
C |
2: 181,033,248 (GRCm39) |
D471G |
probably damaging |
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 |
|
R6616:Pkp4
|
UTSW |
2 |
59,180,896 (GRCm39) |
nonsense |
probably null |
|
|
R6817:Pkp4
|
UTSW |
2 |
59,148,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TAGCCAGCCACTGTAGTTCTTAG -3'
(R):5'- TGCCAGTCATCCCAATGTAC -3'
Sequencing Primer
(F):5'- TTAGGAACCATCTACAGTGGGACTC -3'
(R):5'- GTCATCCCAATGTACTCAGGG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation