Incidental Mutation 'IGL02742:Jph2'
| ID |
305939 |
| 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 # |
IGL02742
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
163178162-163239913 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 163217699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 326
(P326S)
|
| 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: P326S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000017961
Gene: ENSMUSG00000017817
AA Change: P326S
| 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: P326S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105052
Gene: ENSMUSG00000017817
AA Change: P326S
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
A |
G |
9: 103,972,824 (GRCm39) |
T506A |
probably damaging |
Het |
| Ankib1 |
A |
C |
5: 3,743,479 (GRCm39) |
D845E |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,919,399 (GRCm39) |
V369A |
possibly damaging |
Het |
| Ccdc50 |
T |
A |
16: 27,225,534 (GRCm39) |
|
probably benign |
Het |
| Clec2g |
A |
G |
6: 128,957,224 (GRCm39) |
I61V |
possibly damaging |
Het |
| Col16a1 |
G |
A |
4: 129,955,172 (GRCm39) |
|
probably benign |
Het |
| Dapk2 |
A |
G |
9: 66,139,096 (GRCm39) |
Y139C |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,840,757 (GRCm39) |
V667A |
probably damaging |
Het |
| Fnip1 |
T |
C |
11: 54,384,177 (GRCm39) |
L334P |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,839,739 (GRCm39) |
E682G |
possibly damaging |
Het |
| Ints8 |
T |
C |
4: 11,241,627 (GRCm39) |
E272G |
possibly damaging |
Het |
| Krtap1-4 |
T |
C |
11: 99,473,940 (GRCm39) |
|
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,654,022 (GRCm39) |
I1135T |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,958,439 (GRCm39) |
V320A |
probably benign |
Het |
| Myh6 |
A |
C |
14: 55,191,381 (GRCm39) |
I820S |
possibly damaging |
Het |
| Napg |
A |
T |
18: 63,119,319 (GRCm39) |
T110S |
probably damaging |
Het |
| Nova1 |
G |
A |
12: 46,767,475 (GRCm39) |
Q56* |
probably null |
Het |
| Phyhip |
A |
G |
14: 70,699,367 (GRCm39) |
|
probably null |
Het |
| Pkd2l2 |
C |
A |
18: 34,549,970 (GRCm39) |
S205* |
probably null |
Het |
| Ppp2r1a |
G |
T |
17: 21,179,265 (GRCm39) |
C101F |
probably benign |
Het |
| Serpinb3c |
G |
A |
1: 107,200,872 (GRCm39) |
R182* |
probably null |
Het |
| St18 |
A |
C |
1: 6,872,540 (GRCm39) |
|
probably benign |
Het |
| St6galnac4 |
C |
T |
2: 32,487,096 (GRCm39) |
R264C |
possibly damaging |
Het |
| Tmem168 |
T |
C |
6: 13,603,261 (GRCm39) |
Y35C |
probably benign |
Het |
| Tmem219 |
A |
G |
7: 126,496,220 (GRCm39) |
L74P |
probably damaging |
Het |
| Trpc4 |
T |
A |
3: 54,206,667 (GRCm39) |
N622K |
probably damaging |
Het |
| Trpm6 |
A |
C |
19: 18,807,376 (GRCm39) |
|
probably benign |
Het |
| Ttl |
C |
A |
2: 128,908,213 (GRCm39) |
F49L |
possibly damaging |
Het |
| Tut7 |
C |
T |
13: 59,964,156 (GRCm39) |
D250N |
probably damaging |
Het |
| Vmn1r123 |
A |
T |
7: 20,896,968 (GRCm39) |
I287F |
possibly damaging |
Het |
| Vmn2r97 |
T |
G |
17: 19,149,432 (GRCm39) |
I273M |
probably damaging |
Het |
| Wdr5 |
C |
A |
2: 27,410,437 (GRCm39) |
|
probably benign |
Het |
| Zfp37 |
C |
A |
4: 62,110,548 (GRCm39) |
C172F |
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 |
|
IGL02593:Jph2
|
APN |
2 |
163,239,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02713:Jph2
|
APN |
2 |
163,217,837 (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 |
Incidental Mutation