Incidental Mutation 'R2160:Jph3'
| ID |
235116 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jph3
|
| Ensembl Gene |
ENSMUSG00000025318 |
| Gene Name |
junctophilin 3 |
| Synonyms |
JP-3 |
| MMRRC Submission |
040163-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
R2160 (G1)
|
| Quality Score |
223 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
122457298-122517822 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 122479970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 216
(R216L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026357]
[ENSMUST00000127664]
[ENSMUST00000167439]
|
| AlphaFold |
Q9ET77 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026357
AA Change: R216L
PolyPhen 2
Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000026357
Gene: ENSMUSG00000025318
AA Change: R216L
| Domain | Start | End | E-Value | Type |
|---|
|
MORN
|
13 |
34 |
8.01e-1 |
SMART |
|
MORN
|
37 |
57 |
6.13e1 |
SMART |
|
MORN
|
59 |
80 |
2.99e-1 |
SMART |
|
Pfam:MORN
|
83 |
104 |
5.9e-2 |
PFAM |
|
MORN
|
105 |
126 |
8.1e-5 |
SMART |
|
MORN
|
128 |
149 |
2.74e-2 |
SMART |
|
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
244 |
N/A |
INTRINSIC |
|
MORN
|
286 |
307 |
2.78e-3 |
SMART |
|
MORN
|
309 |
330 |
1.03e-6 |
SMART |
|
low complexity region
|
360 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
409 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
494 |
N/A |
INTRINSIC |
|
transmembrane domain
|
721 |
743 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167439
AA Change: R216L
PolyPhen 2
Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000126190
Gene: ENSMUSG00000025318
AA Change: R216L
| Domain | Start | End | E-Value | Type |
|---|
|
MORN
|
13 |
34 |
8.01e-1 |
SMART |
|
MORN
|
37 |
57 |
6.13e1 |
SMART |
|
MORN
|
59 |
80 |
2.99e-1 |
SMART |
|
Pfam:MORN
|
83 |
104 |
5.8e-2 |
PFAM |
|
MORN
|
105 |
126 |
8.1e-5 |
SMART |
|
MORN
|
128 |
149 |
2.74e-2 |
SMART |
|
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
244 |
N/A |
INTRINSIC |
|
MORN
|
286 |
307 |
2.78e-3 |
SMART |
|
MORN
|
309 |
330 |
1.03e-6 |
SMART |
|
low complexity region
|
360 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
409 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
494 |
N/A |
INTRINSIC |
|
transmembrane domain
|
721 |
743 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169735
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172209
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired balance and motor coordination. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bpifb9b |
A |
G |
2: 154,161,595 (GRCm39) |
N576D |
possibly damaging |
Het |
| Braf |
C |
T |
6: 39,639,007 (GRCm39) |
C248Y |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,423,680 (GRCm39) |
E1218G |
possibly damaging |
Het |
| Cntnap4 |
G |
T |
8: 113,484,203 (GRCm39) |
G419C |
probably damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
C |
T |
11: 66,008,309 (GRCm39) |
D839N |
probably damaging |
Het |
| Evc2 |
A |
G |
5: 37,537,862 (GRCm39) |
T517A |
possibly damaging |
Het |
| Fbxw8 |
G |
A |
5: 118,263,053 (GRCm39) |
P209S |
probably damaging |
Het |
| Gcm1 |
A |
G |
9: 77,968,662 (GRCm39) |
K121E |
probably benign |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Herc2 |
A |
G |
7: 55,862,670 (GRCm39) |
D4077G |
probably benign |
Het |
| Inpp4b |
T |
A |
8: 82,848,004 (GRCm39) |
L937* |
probably null |
Het |
| Ipcef1 |
A |
T |
10: 6,840,650 (GRCm39) |
I349N |
probably damaging |
Het |
| Ipmk |
A |
G |
10: 71,217,256 (GRCm39) |
T267A |
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,392,138 (GRCm39) |
E242G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Krt76 |
A |
G |
15: 101,796,820 (GRCm39) |
Y360H |
probably damaging |
Het |
| Lctl |
A |
G |
9: 64,025,049 (GRCm39) |
I12V |
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,833,565 (GRCm39) |
V347A |
possibly damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,680,263 (GRCm39) |
S2058F |
probably damaging |
Het |
| Mark2 |
G |
C |
19: 7,260,112 (GRCm39) |
S111C |
probably damaging |
Het |
| Mon2 |
T |
A |
10: 122,911,834 (GRCm39) |
K12* |
probably null |
Het |
| Nup58 |
A |
G |
14: 60,476,957 (GRCm39) |
V238A |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,940,302 (GRCm39) |
D504G |
probably benign |
Het |
| Pla2g4e |
T |
C |
2: 120,015,687 (GRCm39) |
S286G |
probably benign |
Het |
| Ppfia4 |
A |
T |
1: 134,241,461 (GRCm39) |
V498D |
probably benign |
Het |
| Ppfibp1 |
A |
G |
6: 146,928,951 (GRCm39) |
E846G |
probably damaging |
Het |
| Ppp3ca |
G |
A |
3: 136,583,391 (GRCm39) |
C166Y |
probably damaging |
Het |
| Prpf3 |
T |
C |
3: 95,752,542 (GRCm39) |
K244E |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,502,239 (GRCm39) |
S37P |
probably damaging |
Het |
| Rab11fip3 |
G |
A |
17: 26,288,028 (GRCm39) |
H42Y |
probably benign |
Het |
| Sprn |
C |
A |
7: 139,733,419 (GRCm39) |
|
probably benign |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Thap12 |
A |
G |
7: 98,359,333 (GRCm39) |
S71G |
probably damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,879 (GRCm39) |
F127S |
probably damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,349,420 (GRCm39) |
V721I |
probably benign |
Het |
| Vmn2r56 |
A |
G |
7: 12,428,146 (GRCm39) |
F707L |
probably benign |
Het |
| Zfp976 |
C |
T |
7: 42,263,354 (GRCm39) |
S161N |
probably benign |
Het |
|
| Other mutations in Jph3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02976:Jph3
|
APN |
8 |
122,479,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0142:Jph3
|
UTSW |
8 |
122,480,110 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0200:Jph3
|
UTSW |
8 |
122,511,572 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0238:Jph3
|
UTSW |
8 |
122,480,459 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0238:Jph3
|
UTSW |
8 |
122,480,459 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1550:Jph3
|
UTSW |
8 |
122,511,598 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2127:Jph3
|
UTSW |
8 |
122,511,881 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3901:Jph3
|
UTSW |
8 |
122,480,158 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3902:Jph3
|
UTSW |
8 |
122,480,158 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5126:Jph3
|
UTSW |
8 |
122,479,787 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6073:Jph3
|
UTSW |
8 |
122,480,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6130:Jph3
|
UTSW |
8 |
122,479,826 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6794:Jph3
|
UTSW |
8 |
122,512,124 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6923:Jph3
|
UTSW |
8 |
122,480,110 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7337:Jph3
|
UTSW |
8 |
122,480,441 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7897:Jph3
|
UTSW |
8 |
122,516,136 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8041:Jph3
|
UTSW |
8 |
122,516,201 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8901:Jph3
|
UTSW |
8 |
122,457,561 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9110:Jph3
|
UTSW |
8 |
122,516,201 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9401:Jph3
|
UTSW |
8 |
122,511,854 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9689:Jph3
|
UTSW |
8 |
122,480,377 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9705:Jph3
|
UTSW |
8 |
122,508,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9781:Jph3
|
UTSW |
8 |
122,457,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGACCTCCATCAACTCC -3'
(R):5'- CTTCCATTCACCCACGTAGG -3'
Sequencing Primer
(F):5'- TCCATCAACTCCCTGCGCAG -3'
(R):5'- GATGTCGTCCTCAATGACCG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation