Incidental Mutation 'R6794:Jph3'
| ID |
531669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jph3
|
| Ensembl Gene |
ENSMUSG00000025318 |
| Gene Name |
junctophilin 3 |
| Synonyms |
JP-3 |
| MMRRC Submission |
044907-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
R6794 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
122457298-122517822 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122512124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 704
(L704P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026357]
[ENSMUST00000127664]
[ENSMUST00000167439]
|
| AlphaFold |
Q9ET77 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026357
AA Change: L704P
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000026357
Gene: ENSMUSG00000025318
AA Change: L704P
| 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 |
probably benign
Transcript: ENSMUST00000167439
AA Change: L704P
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000126190
Gene: ENSMUSG00000025318
AA Change: L704P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt |
T |
C |
1: 93,063,104 (GRCm39) |
V30A |
possibly damaging |
Het |
| Atf7 |
T |
C |
15: 102,465,900 (GRCm39) |
K87E |
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,641,624 (GRCm39) |
S932P |
probably benign |
Het |
| Btg4 |
A |
C |
9: 51,030,651 (GRCm39) |
K250N |
possibly damaging |
Het |
| Cracdl |
A |
G |
1: 37,676,936 (GRCm39) |
|
probably null |
Het |
| Cyc1 |
A |
G |
15: 76,228,850 (GRCm39) |
Y132C |
probably damaging |
Het |
| Dcaf5 |
A |
T |
12: 80,445,667 (GRCm39) |
D137E |
possibly damaging |
Het |
| Ddr2 |
C |
A |
1: 169,809,667 (GRCm39) |
W770L |
probably damaging |
Het |
| Disc1 |
T |
C |
8: 125,814,514 (GRCm39) |
V126A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,099,805 (GRCm39) |
N643D |
probably benign |
Het |
| Gabrg1 |
C |
T |
5: 70,973,314 (GRCm39) |
R75H |
probably damaging |
Het |
| Gm14418 |
A |
T |
2: 177,079,631 (GRCm39) |
H121Q |
probably damaging |
Het |
| H2-Ob |
T |
A |
17: 34,460,162 (GRCm39) |
L20Q |
possibly damaging |
Het |
| Herpud1 |
T |
A |
8: 95,121,398 (GRCm39) |
|
probably null |
Het |
| Ica1 |
T |
C |
6: 8,653,659 (GRCm39) |
D326G |
probably benign |
Het |
| Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
| Lnpep |
T |
G |
17: 17,751,421 (GRCm39) |
N948T |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,741,893 (GRCm39) |
V3888D |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,363,289 (GRCm39) |
|
probably benign |
Het |
| Nfkb2 |
T |
C |
19: 46,296,159 (GRCm39) |
|
probably null |
Het |
| Pik3r2 |
T |
C |
8: 71,223,361 (GRCm39) |
H380R |
probably benign |
Het |
| Prim1 |
T |
C |
10: 127,854,018 (GRCm39) |
S124P |
probably damaging |
Het |
| Prokr1 |
T |
C |
6: 87,565,675 (GRCm39) |
T57A |
possibly damaging |
Het |
| Ptpn4 |
T |
C |
1: 119,671,120 (GRCm39) |
T213A |
probably damaging |
Het |
| Sapcd2 |
A |
G |
2: 25,266,379 (GRCm39) |
S389G |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,364,955 (GRCm39) |
Q421R |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,101,985 (GRCm39) |
Y430H |
probably damaging |
Het |
| Shf |
A |
G |
2: 122,184,321 (GRCm39) |
L234P |
probably damaging |
Het |
| Slc22a29 |
G |
T |
19: 8,138,887 (GRCm39) |
S525Y |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,950,519 (GRCm39) |
|
probably null |
Het |
| Tln2 |
T |
C |
9: 67,193,840 (GRCm39) |
D666G |
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 103,797,992 (GRCm39) |
E502K |
probably benign |
Het |
| Vmn2r118 |
T |
A |
17: 55,899,348 (GRCm39) |
H852L |
possibly damaging |
Het |
| Vmn2r72 |
A |
G |
7: 85,387,204 (GRCm39) |
F787L |
probably damaging |
Het |
| Xpc |
G |
A |
6: 91,483,839 (GRCm39) |
A169V |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,043,655 (GRCm39) |
H131R |
unknown |
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 |
|
R2160:Jph3
|
UTSW |
8 |
122,479,970 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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 |
|
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'- ACAGAGACTGAGGTCCAAGTCC -3'
(R):5'- CTTCTAAAGGGTGAGGCCAG -3'
Sequencing Primer
(F):5'- TGAGGTCCAAGTCCCAAAACAAGG -3'
(R):5'- ATCCATCTCAGGCAAGTGTG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation