Incidental Mutation 'IGL02593:Jph2'
ID |
299778 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Jph2
|
Ensembl Gene |
ENSMUSG00000017817 |
Gene Name |
junctophilin 2 |
Synonyms |
1110002E14Rik, JP-2 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02593
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
163178162-163239913 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 163239166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 94
(Y94C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105052
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017961]
[ENSMUST00000109425]
|
AlphaFold |
Q9ET78 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000017961
AA Change: Y94C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000017961 Gene: ENSMUSG00000017817 AA Change: Y94C
Domain | Start | End | E-Value | Type |
MORN
|
12 |
33 |
7.12e0 |
SMART |
MORN
|
58 |
79 |
3.01e0 |
SMART |
Pfam:MORN
|
82 |
103 |
1.2e-2 |
PFAM |
MORN
|
104 |
125 |
4.99e-5 |
SMART |
MORN
|
127 |
148 |
3.67e-3 |
SMART |
low complexity region
|
153 |
168 |
N/A |
INTRINSIC |
low complexity region
|
198 |
208 |
N/A |
INTRINSIC |
low complexity region
|
212 |
234 |
N/A |
INTRINSIC |
low complexity region
|
246 |
279 |
N/A |
INTRINSIC |
MORN
|
283 |
304 |
3.61e-2 |
SMART |
MORN
|
306 |
327 |
6.23e-6 |
SMART |
low complexity region
|
367 |
382 |
N/A |
INTRINSIC |
low complexity region
|
388 |
402 |
N/A |
INTRINSIC |
low complexity region
|
432 |
448 |
N/A |
INTRINSIC |
low complexity region
|
473 |
487 |
N/A |
INTRINSIC |
low complexity region
|
568 |
587 |
N/A |
INTRINSIC |
low complexity region
|
588 |
612 |
N/A |
INTRINSIC |
low complexity region
|
656 |
671 |
N/A |
INTRINSIC |
transmembrane domain
|
673 |
695 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109425
AA Change: Y94C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105052 Gene: ENSMUSG00000017817 AA Change: Y94C
Domain | Start | End | E-Value | Type |
MORN
|
12 |
33 |
7.12e0 |
SMART |
MORN
|
58 |
79 |
3.01e0 |
SMART |
MORN
|
104 |
125 |
4.99e-5 |
SMART |
MORN
|
127 |
148 |
3.67e-3 |
SMART |
low complexity region
|
153 |
168 |
N/A |
INTRINSIC |
low complexity region
|
198 |
208 |
N/A |
INTRINSIC |
low complexity region
|
212 |
234 |
N/A |
INTRINSIC |
low complexity region
|
246 |
279 |
N/A |
INTRINSIC |
MORN
|
283 |
304 |
3.61e-2 |
SMART |
MORN
|
306 |
327 |
6.23e-6 |
SMART |
low complexity region
|
367 |
382 |
N/A |
INTRINSIC |
low complexity region
|
388 |
402 |
N/A |
INTRINSIC |
low complexity region
|
432 |
448 |
N/A |
INTRINSIC |
low complexity region
|
473 |
487 |
N/A |
INTRINSIC |
low complexity region
|
568 |
587 |
N/A |
INTRINSIC |
low complexity region
|
588 |
612 |
N/A |
INTRINSIC |
low complexity region
|
656 |
671 |
N/A |
INTRINSIC |
transmembrane domain
|
673 |
695 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for a targeted null mutation exhibit a deficiency of junctional membrane complexes in cardiac myocytes and die by embryonic day 10.5. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahsg |
G |
T |
16: 22,711,078 (GRCm39) |
|
probably null |
Het |
Bbs4 |
C |
T |
9: 59,235,880 (GRCm39) |
D232N |
probably damaging |
Het |
Cdh23 |
A |
T |
10: 60,301,774 (GRCm39) |
|
probably benign |
Het |
Cntn5 |
T |
C |
9: 9,833,504 (GRCm39) |
N554S |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,641,591 (GRCm39) |
I1652V |
probably benign |
Het |
Golga4 |
T |
C |
9: 118,384,634 (GRCm39) |
|
probably benign |
Het |
Idh3a |
T |
A |
9: 54,503,477 (GRCm39) |
|
probably benign |
Het |
Lnx2 |
A |
G |
5: 146,969,825 (GRCm39) |
S238P |
possibly damaging |
Het |
Loxhd1 |
A |
G |
18: 77,498,235 (GRCm39) |
I56V |
possibly damaging |
Het |
Myo9b |
A |
C |
8: 71,743,417 (GRCm39) |
E159D |
probably damaging |
Het |
Nkiras1 |
A |
G |
14: 18,278,475 (GRCm38) |
N63S |
possibly damaging |
Het |
Nnmt |
A |
G |
9: 48,516,103 (GRCm39) |
|
probably null |
Het |
Or13a22 |
G |
A |
7: 140,073,244 (GRCm39) |
R231H |
probably benign |
Het |
P2ry10 |
T |
C |
X: 106,146,302 (GRCm39) |
I79T |
possibly damaging |
Het |
Padi2 |
A |
G |
4: 140,677,153 (GRCm39) |
H647R |
probably damaging |
Het |
Pate10 |
T |
A |
9: 35,653,438 (GRCm39) |
C81S |
possibly damaging |
Het |
Ptchd4 |
A |
G |
17: 42,628,037 (GRCm39) |
D166G |
probably benign |
Het |
Scml2 |
T |
C |
X: 159,970,305 (GRCm39) |
V125A |
probably benign |
Het |
Senp2 |
A |
G |
16: 21,863,021 (GRCm39) |
D556G |
probably damaging |
Het |
Serpina3a |
G |
T |
12: 104,084,691 (GRCm39) |
V29L |
probably benign |
Het |
Sgcz |
A |
T |
8: 37,990,432 (GRCm39) |
I307N |
probably damaging |
Het |
Slc25a13 |
C |
T |
6: 6,042,265 (GRCm39) |
V638I |
probably benign |
Het |
Snx7 |
G |
A |
3: 117,633,609 (GRCm39) |
L84F |
probably damaging |
Het |
Ticrr |
A |
G |
7: 79,345,214 (GRCm39) |
D1693G |
probably damaging |
Het |
Tm9sf5 |
G |
A |
X: 56,467,320 (GRCm39) |
D245N |
probably benign |
Het |
Vmn2r7 |
C |
T |
3: 64,600,443 (GRCm39) |
C485Y |
probably damaging |
Het |
Vmn2r-ps129 |
C |
T |
17: 23,211,770 (GRCm39) |
|
noncoding transcript |
Het |
Zfyve9 |
A |
G |
4: 108,539,420 (GRCm39) |
V951A |
possibly damaging |
Het |
|
Other mutations in Jph2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01395:Jph2
|
APN |
2 |
163,181,847 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02314:Jph2
|
APN |
2 |
163,239,273 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02565:Jph2
|
APN |
2 |
163,239,265 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02713:Jph2
|
APN |
2 |
163,217,837 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02742:Jph2
|
APN |
2 |
163,217,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R1479:Jph2
|
UTSW |
2 |
163,181,191 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2069:Jph2
|
UTSW |
2 |
163,181,605 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3848:Jph2
|
UTSW |
2 |
163,181,332 (GRCm39) |
missense |
probably benign |
0.22 |
R4961:Jph2
|
UTSW |
2 |
163,217,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R6084:Jph2
|
UTSW |
2 |
163,217,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R6377:Jph2
|
UTSW |
2 |
163,181,632 (GRCm39) |
missense |
probably benign |
|
R6667:Jph2
|
UTSW |
2 |
163,218,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R6874:Jph2
|
UTSW |
2 |
163,181,407 (GRCm39) |
missense |
probably benign |
0.24 |
R7112:Jph2
|
UTSW |
2 |
163,217,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R7874:Jph2
|
UTSW |
2 |
163,217,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R8109:Jph2
|
UTSW |
2 |
163,181,206 (GRCm39) |
missense |
probably benign |
0.00 |
R8196:Jph2
|
UTSW |
2 |
163,180,621 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8802:Jph2
|
UTSW |
2 |
163,239,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R9098:Jph2
|
UTSW |
2 |
163,181,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R9228:Jph2
|
UTSW |
2 |
163,180,606 (GRCm39) |
missense |
probably benign |
0.11 |
R9274:Jph2
|
UTSW |
2 |
163,239,547 (GRCm39) |
start gained |
probably benign |
|
Z1088:Jph2
|
UTSW |
2 |
163,239,252 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1177:Jph2
|
UTSW |
2 |
163,218,297 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Posted On |
2015-04-16 |