Incidental Mutation 'R4808:Jup'
| ID |
370846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jup
|
| Ensembl Gene |
ENSMUSG00000001552 |
| Gene Name |
junction plakoglobin |
| Synonyms |
D930025P04Rik, gamma-catenin, plakoglobin, PG, Ctnng |
| MMRRC Submission |
042427-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4808 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
100259784-100288589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 100269018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 465
(R465H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001592]
[ENSMUST00000107403]
|
| AlphaFold |
Q02257 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001592
AA Change: R465H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000001592
Gene: ENSMUSG00000001552
AA Change: R465H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
|
ARM
|
132 |
171 |
3.58e1 |
SMART |
|
ARM
|
172 |
214 |
4.03e1 |
SMART |
|
ARM
|
215 |
255 |
1.07e-4 |
SMART |
|
ARM
|
256 |
297 |
1.66e-1 |
SMART |
|
ARM
|
299 |
340 |
1.86e1 |
SMART |
|
ARM
|
341 |
381 |
9.23e-9 |
SMART |
|
ARM
|
382 |
420 |
2.29e1 |
SMART |
|
ARM
|
422 |
464 |
7.34e-3 |
SMART |
|
ARM
|
469 |
510 |
8.3e-2 |
SMART |
|
ARM
|
511 |
572 |
7.45e-4 |
SMART |
|
ARM
|
573 |
613 |
5.35e-5 |
SMART |
|
ARM
|
614 |
654 |
1.56e1 |
SMART |
|
low complexity region
|
708 |
723 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107403
AA Change: R465H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103026
Gene: ENSMUSG00000001552
AA Change: R465H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
|
ARM
|
132 |
171 |
3.58e1 |
SMART |
|
ARM
|
172 |
214 |
4.03e1 |
SMART |
|
ARM
|
215 |
255 |
1.07e-4 |
SMART |
|
ARM
|
256 |
297 |
1.66e-1 |
SMART |
|
ARM
|
299 |
340 |
1.86e1 |
SMART |
|
ARM
|
341 |
381 |
9.23e-9 |
SMART |
|
ARM
|
382 |
420 |
2.29e1 |
SMART |
|
ARM
|
422 |
464 |
7.34e-3 |
SMART |
|
ARM
|
469 |
510 |
8.3e-2 |
SMART |
|
ARM
|
511 |
572 |
7.45e-4 |
SMART |
|
ARM
|
573 |
613 |
5.35e-5 |
SMART |
|
ARM
|
614 |
654 |
1.56e1 |
SMART |
|
low complexity region
|
708 |
723 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151476
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152774
|
| Meta Mutation Damage Score |
0.8293 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
99% (71/72) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants die with severe heart defects at embryonic day 10.5-16, depending on genetic background. Mutants that survive to birth exhibit skin blistering and subcorneal acantholysis associated with reduced number of desmosomes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,667,536 (GRCm39) |
F309S |
unknown |
Het |
| Abi3bp |
A |
G |
16: 56,414,879 (GRCm39) |
D347G |
probably damaging |
Het |
| Adora2a |
A |
G |
10: 75,169,280 (GRCm39) |
N248S |
probably damaging |
Het |
| Agap3 |
T |
C |
5: 24,706,243 (GRCm39) |
F836L |
probably benign |
Het |
| Arap2 |
G |
A |
5: 62,887,984 (GRCm39) |
T454M |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atm |
A |
G |
9: 53,356,795 (GRCm39) |
S2819P |
probably damaging |
Het |
| Atp8b1 |
A |
G |
18: 64,694,782 (GRCm39) |
F500S |
probably benign |
Het |
| Catsper1 |
G |
A |
19: 5,394,164 (GRCm39) |
D682N |
possibly damaging |
Het |
| Chordc1 |
A |
G |
9: 18,203,709 (GRCm39) |
Y6C |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,088,756 (GRCm39) |
K273R |
probably damaging |
Het |
| Crat |
T |
C |
2: 30,300,033 (GRCm39) |
I116V |
probably benign |
Het |
| Cyp26a1 |
A |
G |
19: 37,689,573 (GRCm39) |
H423R |
probably benign |
Het |
| Cyp4f40 |
A |
G |
17: 32,893,249 (GRCm39) |
E360G |
probably benign |
Het |
| D430041D05Rik |
A |
C |
2: 104,031,455 (GRCm39) |
|
probably null |
Het |
| Eif3i |
A |
T |
4: 129,485,857 (GRCm39) |
F323I |
probably benign |
Het |
| Fam53a |
A |
G |
5: 33,765,023 (GRCm39) |
S228P |
probably damaging |
Het |
| Gm10305 |
C |
T |
4: 99,161,481 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7347 |
C |
T |
5: 26,259,995 (GRCm39) |
R185H |
probably benign |
Het |
| Golga2 |
G |
T |
2: 32,193,226 (GRCm39) |
A441S |
probably benign |
Het |
| Gphn |
T |
A |
12: 78,701,654 (GRCm39) |
S608T |
probably benign |
Het |
| Gramd1b |
A |
T |
9: 40,215,645 (GRCm39) |
V620E |
possibly damaging |
Het |
| H2bc18 |
T |
G |
3: 96,177,329 (GRCm39) |
S88A |
probably benign |
Het |
| H2-M9 |
T |
C |
17: 36,951,684 (GRCm39) |
T264A |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Hsd3b6 |
G |
A |
3: 98,713,601 (GRCm39) |
H233Y |
probably damaging |
Het |
| Ighv6-7 |
T |
A |
12: 114,419,341 (GRCm39) |
R88* |
probably null |
Het |
| Kif16b |
A |
T |
2: 142,699,278 (GRCm39) |
Y101N |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Mapkap1 |
G |
A |
2: 34,487,434 (GRCm39) |
|
probably null |
Het |
| Myocos |
T |
C |
1: 162,484,609 (GRCm39) |
|
probably benign |
Het |
| Nav1 |
C |
T |
1: 135,382,942 (GRCm39) |
G1197S |
probably damaging |
Het |
| Oas1g |
T |
G |
5: 121,017,385 (GRCm39) |
K223T |
possibly damaging |
Het |
| Oprd1 |
G |
A |
4: 131,844,705 (GRCm39) |
T101M |
probably damaging |
Het |
| Or14c40 |
A |
G |
7: 86,313,146 (GRCm39) |
D92G |
probably benign |
Het |
| Or51g2 |
T |
C |
7: 102,623,118 (GRCm39) |
H27R |
probably damaging |
Het |
| Pcdha7 |
G |
A |
18: 37,107,281 (GRCm39) |
C102Y |
probably damaging |
Het |
| Pcx |
T |
A |
19: 4,670,956 (GRCm39) |
S1086T |
probably benign |
Het |
| Pde8a |
A |
G |
7: 80,932,679 (GRCm39) |
T114A |
probably benign |
Het |
| Pias4 |
A |
G |
10: 80,991,674 (GRCm39) |
|
probably null |
Het |
| Pkn3 |
G |
A |
2: 29,980,093 (GRCm39) |
G750E |
probably damaging |
Het |
| Pramel5 |
G |
A |
4: 143,999,325 (GRCm39) |
A254V |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,554,368 (GRCm39) |
L119P |
probably damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,160,190 (GRCm39) |
L395Q |
probably damaging |
Het |
| Rbm19 |
T |
C |
5: 120,256,839 (GRCm39) |
S51P |
probably damaging |
Het |
| Rfx5 |
A |
G |
3: 94,865,591 (GRCm39) |
T297A |
probably benign |
Het |
| Scaf1 |
T |
C |
7: 44,658,063 (GRCm39) |
E272G |
probably damaging |
Het |
| Slc24a2 |
G |
T |
4: 86,950,475 (GRCm39) |
Q396K |
probably benign |
Het |
| Slc39a14 |
T |
C |
14: 70,553,250 (GRCm39) |
I162V |
probably damaging |
Het |
| Snap25 |
A |
G |
2: 136,612,022 (GRCm39) |
D70G |
probably damaging |
Het |
| Spata31d1b |
C |
T |
13: 59,863,535 (GRCm39) |
P228S |
probably benign |
Het |
| Sppl3 |
T |
A |
5: 115,221,485 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
G |
6: 48,428,095 (GRCm39) |
D314G |
probably damaging |
Het |
| Steap1 |
G |
T |
5: 5,788,829 (GRCm39) |
|
probably benign |
Het |
| Suox |
T |
A |
10: 128,507,758 (GRCm39) |
D90V |
possibly damaging |
Het |
| Sycp2 |
T |
C |
2: 178,035,754 (GRCm39) |
|
probably benign |
Het |
| Tektl1 |
A |
T |
10: 78,588,698 (GRCm39) |
D37E |
probably benign |
Het |
| Tln2 |
G |
T |
9: 67,239,015 (GRCm39) |
T1087K |
probably benign |
Het |
| Uap1l1 |
A |
G |
2: 25,252,097 (GRCm39) |
S473P |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,546,896 (GRCm39) |
N882K |
probably benign |
Het |
| Zfp536 |
A |
T |
7: 37,178,730 (GRCm39) |
C228S |
probably damaging |
Het |
|
| Other mutations in Jup |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01141:Jup
|
APN |
11 |
100,277,075 (GRCm39) |
missense |
probably benign |
|
|
IGL01797:Jup
|
APN |
11 |
100,272,498 (GRCm39) |
splice site |
probably benign |
|
|
IGL01926:Jup
|
APN |
11 |
100,274,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02030:Jup
|
APN |
11 |
100,267,817 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02073:Jup
|
APN |
11 |
100,274,215 (GRCm39) |
splice site |
probably benign |
|
|
IGL02218:Jup
|
APN |
11 |
100,272,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02450:Jup
|
APN |
11 |
100,269,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02955:Jup
|
APN |
11 |
100,267,565 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02976:Jup
|
APN |
11 |
100,269,192 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL03023:Jup
|
APN |
11 |
100,271,518 (GRCm39) |
splice site |
probably benign |
|
|
Jove
|
UTSW |
11 |
100,277,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02802:Jup
|
UTSW |
11 |
100,269,204 (GRCm39) |
missense |
probably benign |
|
|
PIT4403001:Jup
|
UTSW |
11 |
100,268,913 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0426:Jup
|
UTSW |
11 |
100,263,227 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0626:Jup
|
UTSW |
11 |
100,267,589 (GRCm39) |
missense |
probably benign |
|
|
R1330:Jup
|
UTSW |
11 |
100,263,502 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1437:Jup
|
UTSW |
11 |
100,274,402 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1448:Jup
|
UTSW |
11 |
100,274,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1473:Jup
|
UTSW |
11 |
100,270,427 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1686:Jup
|
UTSW |
11 |
100,263,260 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1824:Jup
|
UTSW |
11 |
100,264,963 (GRCm39) |
nonsense |
probably null |
|
|
R1875:Jup
|
UTSW |
11 |
100,263,120 (GRCm39) |
splice site |
probably null |
|
|
R2017:Jup
|
UTSW |
11 |
100,277,167 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2989:Jup
|
UTSW |
11 |
100,267,667 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3881:Jup
|
UTSW |
11 |
100,269,207 (GRCm39) |
missense |
probably benign |
|
|
R3882:Jup
|
UTSW |
11 |
100,269,207 (GRCm39) |
missense |
probably benign |
|
|
R4176:Jup
|
UTSW |
11 |
100,263,287 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4612:Jup
|
UTSW |
11 |
100,272,660 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4854:Jup
|
UTSW |
11 |
100,273,867 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4995:Jup
|
UTSW |
11 |
100,270,367 (GRCm39) |
nonsense |
probably null |
|
|
R5133:Jup
|
UTSW |
11 |
100,273,941 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5408:Jup
|
UTSW |
11 |
100,267,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5641:Jup
|
UTSW |
11 |
100,267,632 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5991:Jup
|
UTSW |
11 |
100,270,395 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6431:Jup
|
UTSW |
11 |
100,265,167 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6805:Jup
|
UTSW |
11 |
100,274,284 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7022:Jup
|
UTSW |
11 |
100,270,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Jup
|
UTSW |
11 |
100,272,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7399:Jup
|
UTSW |
11 |
100,269,177 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7707:Jup
|
UTSW |
11 |
100,273,878 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8017:Jup
|
UTSW |
11 |
100,265,023 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8019:Jup
|
UTSW |
11 |
100,265,023 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8074:Jup
|
UTSW |
11 |
100,277,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8181:Jup
|
UTSW |
11 |
100,267,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8326:Jup
|
UTSW |
11 |
100,272,571 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8969:Jup
|
UTSW |
11 |
100,270,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8970:Jup
|
UTSW |
11 |
100,270,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8971:Jup
|
UTSW |
11 |
100,270,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9139:Jup
|
UTSW |
11 |
100,270,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9140:Jup
|
UTSW |
11 |
100,270,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9145:Jup
|
UTSW |
11 |
100,269,124 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9168:Jup
|
UTSW |
11 |
100,274,219 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9370:Jup
|
UTSW |
11 |
100,270,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9372:Jup
|
UTSW |
11 |
100,270,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9373:Jup
|
UTSW |
11 |
100,270,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9381:Jup
|
UTSW |
11 |
100,270,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9506:Jup
|
UTSW |
11 |
100,267,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9685:Jup
|
UTSW |
11 |
100,274,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTATGACCCTGAACATGGACAG -3'
(R):5'- GAGAGTGTGCTGAAGATCCTG -3'
Sequencing Primer
(F):5'- TGAACATGGACAGACCCCTC -3'
(R):5'- TGCTGAAGATCCTGGTCAAC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation