Incidental Mutation 'R6269:Pdlim5'
ID |
507206 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdlim5
|
Ensembl Gene |
ENSMUSG00000028273 |
Gene Name |
PDZ and LIM domain 5 |
Synonyms |
Enh, 1110001A05Rik, Enh3, Enh2 |
MMRRC Submission |
044440-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6269 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
141945351-142101457 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 142018086 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 170
(T170A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143098
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029941]
[ENSMUST00000058626]
[ENSMUST00000090134]
[ENSMUST00000168967]
[ENSMUST00000170361]
[ENSMUST00000195975]
[ENSMUST00000196220]
[ENSMUST00000196908]
[ENSMUST00000198381]
[ENSMUST00000200043]
|
AlphaFold |
Q8CI51 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029941
AA Change: T170A
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000029941 Gene: ENSMUSG00000028273 AA Change: T170A
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
|
SMART Domains |
Protein: ENSMUSP00000059267 Gene: ENSMUSG00000028273
Domain | Start | End | E-Value | Type |
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090134
|
SMART Domains |
Protein: ENSMUSP00000087595 Gene: ENSMUSG00000028273
Domain | Start | End | E-Value | Type |
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
low complexity region
|
111 |
118 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168967
|
SMART Domains |
Protein: ENSMUSP00000132647 Gene: ENSMUSG00000028273
Domain | Start | End | E-Value | Type |
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
low complexity region
|
144 |
171 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170361
|
SMART Domains |
Protein: ENSMUSP00000128752 Gene: ENSMUSG00000028273
Domain | Start | End | E-Value | Type |
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
Pfam:DUF4749
|
101 |
207 |
2.7e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195975
|
SMART Domains |
Protein: ENSMUSP00000142737 Gene: ENSMUSG00000028273
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 |
probably benign
Transcript: ENSMUST00000196220
|
SMART Domains |
Protein: ENSMUSP00000142460 Gene: ENSMUSG00000028273
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: ENSMUST00000196908
AA Change: T170A
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000143098 Gene: ENSMUSG00000028273 AA Change: T170A
Domain | Start | End | E-Value | Type |
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
low complexity region
|
144 |
171 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198381
|
SMART Domains |
Protein: ENSMUSP00000142899 Gene: ENSMUSG00000028273
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 |
probably benign
Transcript: ENSMUST00000200043
|
SMART Domains |
Protein: ENSMUSP00000143343 Gene: ENSMUSG00000028273
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
A |
6: 86,941,033 (GRCm39) |
I609N |
unknown |
Het |
Ano10 |
A |
T |
9: 122,090,308 (GRCm39) |
I277N |
probably damaging |
Het |
Ap2b1 |
A |
G |
11: 83,237,499 (GRCm39) |
D483G |
probably damaging |
Het |
As3mt |
T |
A |
19: 46,708,391 (GRCm39) |
F226Y |
probably damaging |
Het |
Atp10a |
G |
A |
7: 58,453,487 (GRCm39) |
R855H |
possibly damaging |
Het |
Bin3 |
T |
A |
14: 70,374,611 (GRCm39) |
H213Q |
probably benign |
Het |
Bora |
T |
C |
14: 99,311,103 (GRCm39) |
C512R |
probably damaging |
Het |
Camk2b |
T |
A |
11: 5,928,497 (GRCm39) |
D414V |
probably damaging |
Het |
Ccdc27 |
A |
T |
4: 154,122,179 (GRCm39) |
L233Q |
unknown |
Het |
Ccdc73 |
T |
C |
2: 104,737,978 (GRCm39) |
S25P |
probably damaging |
Het |
Cenpf |
G |
A |
1: 189,392,117 (GRCm39) |
H572Y |
probably benign |
Het |
Chil4 |
A |
G |
3: 106,111,487 (GRCm39) |
V209A |
probably damaging |
Het |
Clstn1 |
T |
C |
4: 149,728,524 (GRCm39) |
V650A |
probably benign |
Het |
Cox6a2 |
T |
A |
7: 127,805,437 (GRCm39) |
S11C |
probably benign |
Het |
Csf1 |
T |
C |
3: 107,656,317 (GRCm39) |
E238G |
probably benign |
Het |
Cyp2c23 |
T |
A |
19: 44,017,626 (GRCm39) |
M1L |
unknown |
Het |
Cyp4a10 |
T |
A |
4: 115,381,509 (GRCm39) |
M191K |
probably damaging |
Het |
Cyp4a14 |
A |
G |
4: 115,348,328 (GRCm39) |
V383A |
possibly damaging |
Het |
D130052B06Rik |
T |
G |
11: 33,573,916 (GRCm39) |
V171G |
possibly damaging |
Het |
Dlgap2 |
A |
G |
8: 14,872,369 (GRCm39) |
T617A |
probably benign |
Het |
Dyrk4 |
T |
A |
6: 126,863,690 (GRCm39) |
I351F |
probably damaging |
Het |
Epg5 |
T |
C |
18: 77,991,585 (GRCm39) |
V94A |
probably benign |
Het |
Fam111a |
A |
G |
19: 12,565,807 (GRCm39) |
T519A |
probably benign |
Het |
Gdpd4 |
A |
G |
7: 97,623,669 (GRCm39) |
S314G |
probably damaging |
Het |
Gm9758 |
T |
A |
5: 14,962,274 (GRCm39) |
K111N |
possibly damaging |
Het |
Gpr137b |
A |
T |
13: 13,538,096 (GRCm39) |
V285E |
probably damaging |
Het |
Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
Itgal |
T |
A |
7: 126,929,389 (GRCm39) |
L1102Q |
probably null |
Het |
Kctd19 |
T |
A |
8: 106,121,992 (GRCm39) |
Y185F |
possibly damaging |
Het |
Kif5b |
A |
G |
18: 6,223,558 (GRCm39) |
L317P |
possibly damaging |
Het |
Klhl42 |
C |
A |
6: 146,993,805 (GRCm39) |
A259E |
probably damaging |
Het |
Lrrc2 |
A |
G |
9: 110,810,017 (GRCm39) |
D351G |
probably damaging |
Het |
Med12l |
A |
G |
3: 59,135,243 (GRCm39) |
E797G |
probably damaging |
Het |
Mink1 |
A |
G |
11: 70,489,813 (GRCm39) |
E63G |
probably damaging |
Het |
Nek9 |
T |
C |
12: 85,379,103 (GRCm39) |
|
probably null |
Het |
Or12e8 |
A |
T |
2: 87,677,218 (GRCm39) |
H201L |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Parp6 |
G |
A |
9: 59,557,295 (GRCm39) |
V627I |
probably benign |
Het |
Pclo |
C |
T |
5: 14,572,108 (GRCm39) |
Q498* |
probably null |
Het |
Pgap1 |
A |
T |
1: 54,587,167 (GRCm39) |
Y136* |
probably null |
Het |
Pgghg |
T |
A |
7: 140,526,097 (GRCm39) |
N563K |
probably damaging |
Het |
Plxnb2 |
A |
G |
15: 89,044,916 (GRCm39) |
M1143T |
probably benign |
Het |
Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
Prc1 |
G |
A |
7: 79,959,175 (GRCm39) |
R381Q |
probably damaging |
Het |
Psph |
A |
T |
5: 129,843,529 (GRCm39) |
I175N |
probably damaging |
Het |
Rbbp8nl |
T |
A |
2: 179,923,305 (GRCm39) |
K131* |
probably null |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
Sde2 |
G |
A |
1: 180,683,371 (GRCm39) |
V42I |
probably benign |
Het |
Slc25a3 |
G |
A |
10: 90,952,963 (GRCm39) |
R314* |
probably null |
Het |
Spag9 |
A |
G |
11: 93,935,333 (GRCm39) |
N48S |
probably benign |
Het |
Srp54b |
T |
C |
12: 55,302,757 (GRCm39) |
M351T |
possibly damaging |
Het |
Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
Tcaf2 |
A |
G |
6: 42,604,342 (GRCm39) |
L679P |
probably damaging |
Het |
Tnrc6b |
T |
A |
15: 80,764,944 (GRCm39) |
N815K |
probably benign |
Het |
Usp17la |
A |
T |
7: 104,509,557 (GRCm39) |
Q54L |
possibly damaging |
Het |
Vmn2r92 |
T |
A |
17: 18,387,036 (GRCm39) |
I125K |
probably benign |
Het |
Xrra1 |
T |
C |
7: 99,566,679 (GRCm39) |
Y732H |
probably damaging |
Het |
Zfp131 |
A |
G |
13: 120,227,941 (GRCm39) |
S603P |
possibly damaging |
Het |
Zfp28 |
G |
T |
7: 6,396,612 (GRCm39) |
S349I |
probably benign |
Het |
|
Other mutations in Pdlim5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02673:Pdlim5
|
APN |
3 |
142,058,548 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTTAATGTCACCCTGGGATC -3'
(R):5'- AGGAAGTAGTTAAGCCTGTGC -3'
Sequencing Primer
(F):5'- AATGTCACCCTGGGATCCTCTTC -3'
(R):5'- GAAGTAGTTAAGCCTGTGCCCATTAC -3'
|
Posted On |
2018-03-15 |