Incidental Mutation 'IGL02673:Pdlim5'
ID |
303016 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pdlim5
|
Ensembl Gene |
ENSMUSG00000028273 |
Gene Name |
PDZ and LIM domain 5 |
Synonyms |
Enh, 1110001A05Rik, Enh3, Enh2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02673
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
141945351-142101457 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 142058548 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 65
(E65D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143343
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029941]
[ENSMUST00000058626]
[ENSMUST00000090134]
[ENSMUST00000168967]
[ENSMUST00000170361]
[ENSMUST00000195975]
[ENSMUST00000196220]
[ENSMUST00000198381]
[ENSMUST00000196908]
[ENSMUST00000200043]
|
AlphaFold |
Q8CI51 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029941
AA Change: E65D
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000029941 Gene: ENSMUSG00000028273 AA Change: E65D
Domain | Start | End | E-Value | Type |
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
low complexity region
|
144 |
171 |
N/A |
INTRINSIC |
Pfam:DUF4749
|
212 |
305 |
1.3e-9 |
PFAM |
low complexity region
|
310 |
339 |
N/A |
INTRINSIC |
LIM
|
414 |
465 |
3.17e-17 |
SMART |
LIM
|
473 |
524 |
4.62e-19 |
SMART |
LIM
|
532 |
585 |
1.79e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000058626
AA Change: E65D
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000059267 Gene: ENSMUSG00000028273 AA Change: E65D
Domain | Start | End | E-Value | Type |
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090134
AA Change: E65D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000087595 Gene: ENSMUSG00000028273 AA Change: E65D
Domain | Start | End | E-Value | Type |
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
low complexity region
|
111 |
118 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168967
AA Change: E65D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132647 Gene: ENSMUSG00000028273 AA Change: E65D
Domain | Start | End | E-Value | Type |
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
low complexity region
|
144 |
171 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170361
AA Change: E65D
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000128752 Gene: ENSMUSG00000028273 AA Change: E65D
Domain | Start | End | E-Value | Type |
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
Pfam:DUF4749
|
101 |
207 |
2.7e-10 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195975
AA Change: E65D
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000142737 Gene: ENSMUSG00000028273 AA Change: E65D
Domain | Start | End | E-Value | Type |
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
low complexity region
|
237 |
246 |
N/A |
INTRINSIC |
low complexity region
|
266 |
283 |
N/A |
INTRINSIC |
low complexity region
|
316 |
331 |
N/A |
INTRINSIC |
low complexity region
|
333 |
362 |
N/A |
INTRINSIC |
LIM
|
437 |
488 |
3.17e-17 |
SMART |
LIM
|
496 |
547 |
4.62e-19 |
SMART |
LIM
|
555 |
608 |
1.79e-16 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196220
AA Change: E65D
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000142460 Gene: ENSMUSG00000028273 AA Change: E65D
Domain | Start | End | E-Value | Type |
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
low complexity region
|
226 |
243 |
N/A |
INTRINSIC |
low complexity region
|
276 |
291 |
N/A |
INTRINSIC |
low complexity region
|
293 |
322 |
N/A |
INTRINSIC |
LIM
|
397 |
448 |
3.17e-17 |
SMART |
LIM
|
456 |
507 |
4.62e-19 |
SMART |
LIM
|
515 |
568 |
1.79e-16 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198381
AA Change: E65D
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142899 Gene: ENSMUSG00000028273 AA Change: E65D
Domain | Start | End | E-Value | Type |
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
low complexity region
|
201 |
230 |
N/A |
INTRINSIC |
LIM
|
305 |
356 |
3.17e-17 |
SMART |
LIM
|
364 |
415 |
4.62e-19 |
SMART |
LIM
|
423 |
476 |
1.79e-16 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196908
AA Change: E65D
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000143098 Gene: ENSMUSG00000028273 AA Change: E65D
Domain | Start | End | E-Value | Type |
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
low complexity region
|
144 |
171 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000200043
AA Change: E65D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143343 Gene: ENSMUSG00000028273 AA Change: E65D
Domain | Start | End | E-Value | Type |
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
low complexity region
|
228 |
243 |
N/A |
INTRINSIC |
low complexity region
|
245 |
274 |
N/A |
INTRINSIC |
LIM
|
349 |
400 |
3.17e-17 |
SMART |
LIM
|
408 |
459 |
4.62e-19 |
SMART |
LIM
|
467 |
520 |
1.79e-16 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired cardiac muscle contractility, wider Z-lines, and dilated cardiomyopathy. Mice heterozygous for a gene trap allele exhibit impaired response to methamphetamine. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930012K11Rik |
T |
A |
14: 70,395,056 (GRCm39) |
T33S |
probably benign |
Het |
Abca4 |
T |
C |
3: 121,897,150 (GRCm39) |
Y610H |
probably damaging |
Het |
Agl |
A |
T |
3: 116,575,248 (GRCm39) |
C630S |
probably benign |
Het |
Alkbh6 |
G |
T |
7: 30,013,536 (GRCm39) |
G202C |
probably damaging |
Het |
Ascc3 |
A |
T |
10: 50,536,769 (GRCm39) |
M701L |
probably benign |
Het |
Bpgm |
T |
A |
6: 34,464,769 (GRCm39) |
L162Q |
probably damaging |
Het |
Ccdc150 |
A |
G |
1: 54,368,149 (GRCm39) |
T592A |
probably benign |
Het |
Chpf2 |
G |
A |
5: 24,796,302 (GRCm39) |
R416Q |
probably benign |
Het |
Col14a1 |
G |
A |
15: 55,282,178 (GRCm39) |
G813E |
unknown |
Het |
Col18a1 |
C |
T |
10: 76,894,997 (GRCm39) |
G983D |
probably damaging |
Het |
Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
Cyp2a22 |
T |
G |
7: 26,637,525 (GRCm39) |
K157Q |
probably benign |
Het |
Dhx57 |
A |
G |
17: 80,574,974 (GRCm39) |
V668A |
probably damaging |
Het |
Eps8l1 |
T |
A |
7: 4,481,731 (GRCm39) |
V743E |
probably damaging |
Het |
Fnbp4 |
C |
T |
2: 90,593,816 (GRCm39) |
T557M |
probably benign |
Het |
Fzd5 |
C |
T |
1: 64,774,265 (GRCm39) |
E499K |
possibly damaging |
Het |
Gm57858 |
A |
C |
3: 36,100,848 (GRCm39) |
|
probably benign |
Het |
Il1r2 |
A |
G |
1: 40,154,323 (GRCm39) |
Y230C |
probably damaging |
Het |
Insrr |
A |
C |
3: 87,720,368 (GRCm39) |
E1002A |
possibly damaging |
Het |
Kdm4a |
C |
T |
4: 118,025,769 (GRCm39) |
D146N |
probably benign |
Het |
Kidins220 |
G |
A |
12: 25,044,991 (GRCm39) |
V262M |
probably damaging |
Het |
Kif26b |
C |
T |
1: 178,649,170 (GRCm39) |
P430L |
probably damaging |
Het |
Mamdc4 |
T |
C |
2: 25,460,066 (GRCm39) |
S62G |
probably benign |
Het |
Mcu |
C |
A |
10: 59,303,466 (GRCm39) |
V124F |
probably damaging |
Het |
Mlf1 |
A |
G |
3: 67,301,280 (GRCm39) |
M98V |
probably benign |
Het |
Mogs |
T |
C |
6: 83,095,199 (GRCm39) |
V672A |
probably damaging |
Het |
Ntrk3 |
T |
C |
7: 77,900,512 (GRCm39) |
D609G |
probably damaging |
Het |
Or1n1 |
C |
T |
2: 36,750,188 (GRCm39) |
M57I |
probably benign |
Het |
Peg3 |
T |
C |
7: 6,713,413 (GRCm39) |
N603S |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,790,257 (GRCm39) |
Y980C |
probably benign |
Het |
Rack1 |
A |
G |
11: 48,691,357 (GRCm39) |
T23A |
probably benign |
Het |
Rad50 |
A |
T |
11: 53,579,067 (GRCm39) |
I497K |
probably benign |
Het |
Sin3a |
C |
A |
9: 57,014,725 (GRCm39) |
Q649K |
probably damaging |
Het |
Sirt6 |
A |
G |
10: 81,461,671 (GRCm39) |
F46L |
probably damaging |
Het |
Slc40a1 |
A |
T |
1: 45,957,576 (GRCm39) |
I136N |
possibly damaging |
Het |
Sspo |
G |
A |
6: 48,452,794 (GRCm39) |
R2834H |
probably damaging |
Het |
Sspo |
G |
T |
6: 48,475,709 (GRCm39) |
|
probably null |
Het |
Sycp2 |
T |
A |
2: 178,036,004 (GRCm39) |
T228S |
possibly damaging |
Het |
Uhrf2 |
T |
A |
19: 30,070,207 (GRCm39) |
N785K |
probably damaging |
Het |
Vmn2r58 |
T |
A |
7: 41,514,082 (GRCm39) |
Y187F |
possibly damaging |
Het |
Vmn2r80 |
A |
G |
10: 79,005,318 (GRCm39) |
I318M |
probably benign |
Het |
Vps13c |
T |
C |
9: 67,785,380 (GRCm39) |
L249P |
probably damaging |
Het |
Zw10 |
T |
A |
9: 48,988,893 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Pdlim5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1868:Pdlim5
|
UTSW |
3 |
142,012,060 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1937:Pdlim5
|
UTSW |
3 |
141,950,742 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3000:Pdlim5
|
UTSW |
3 |
142,017,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R4477:Pdlim5
|
UTSW |
3 |
141,964,978 (GRCm39) |
missense |
probably benign |
0.09 |
R4959:Pdlim5
|
UTSW |
3 |
142,017,740 (GRCm39) |
intron |
probably benign |
|
R4973:Pdlim5
|
UTSW |
3 |
142,017,740 (GRCm39) |
intron |
probably benign |
|
R5135:Pdlim5
|
UTSW |
3 |
142,010,126 (GRCm39) |
missense |
probably benign |
0.34 |
R5393:Pdlim5
|
UTSW |
3 |
141,964,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R5445:Pdlim5
|
UTSW |
3 |
142,058,495 (GRCm39) |
missense |
probably null |
1.00 |
R5707:Pdlim5
|
UTSW |
3 |
142,010,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R6154:Pdlim5
|
UTSW |
3 |
141,983,674 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6269:Pdlim5
|
UTSW |
3 |
142,018,086 (GRCm39) |
missense |
possibly damaging |
0.57 |
R6395:Pdlim5
|
UTSW |
3 |
142,020,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R6600:Pdlim5
|
UTSW |
3 |
141,965,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R6911:Pdlim5
|
UTSW |
3 |
142,010,076 (GRCm39) |
missense |
probably damaging |
0.98 |
R7135:Pdlim5
|
UTSW |
3 |
142,017,683 (GRCm39) |
splice site |
probably null |
|
R7283:Pdlim5
|
UTSW |
3 |
142,017,741 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7334:Pdlim5
|
UTSW |
3 |
141,950,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R7660:Pdlim5
|
UTSW |
3 |
141,964,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R7687:Pdlim5
|
UTSW |
3 |
141,983,608 (GRCm39) |
missense |
probably benign |
0.02 |
R7696:Pdlim5
|
UTSW |
3 |
141,983,623 (GRCm39) |
missense |
probably benign |
0.08 |
R7779:Pdlim5
|
UTSW |
3 |
141,948,447 (GRCm39) |
missense |
probably benign |
0.27 |
R7904:Pdlim5
|
UTSW |
3 |
142,018,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R8171:Pdlim5
|
UTSW |
3 |
142,017,948 (GRCm39) |
missense |
probably benign |
|
R8913:Pdlim5
|
UTSW |
3 |
141,950,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R9082:Pdlim5
|
UTSW |
3 |
142,009,163 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9087:Pdlim5
|
UTSW |
3 |
142,058,594 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9103:Pdlim5
|
UTSW |
3 |
142,010,174 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9320:Pdlim5
|
UTSW |
3 |
141,953,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R9515:Pdlim5
|
UTSW |
3 |
142,010,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R9664:Pdlim5
|
UTSW |
3 |
142,018,058 (GRCm39) |
missense |
probably benign |
0.01 |
R9711:Pdlim5
|
UTSW |
3 |
141,948,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |