Incidental Mutation 'R6600:Pdlim5'
| ID |
525175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdlim5
|
| Ensembl Gene |
ENSMUSG00000028273 |
| Gene Name |
PDZ and LIM domain 5 |
| Synonyms |
Enh, 1110001A05Rik, Enh3, Enh2 |
| MMRRC Submission |
044724-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6600 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
141945351-142101457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 141965039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 126
(R126G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029941]
[ENSMUST00000195975]
[ENSMUST00000196220]
[ENSMUST00000198381]
[ENSMUST00000200043]
|
| AlphaFold |
Q8CI51 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029941
AA Change: R374G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000029941
Gene: ENSMUSG00000028273
AA Change: R374G
| 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 |
possibly damaging
Transcript: ENSMUST00000195975
AA Change: R397G
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142737
Gene: ENSMUSG00000028273
AA Change: R397G
| 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
AA Change: R357G
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000142460
Gene: ENSMUSG00000028273
AA Change: R357G
| 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 |
probably damaging
Transcript: ENSMUST00000197808
AA Change: R176G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198381
AA Change: R265G
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000142899
Gene: ENSMUSG00000028273
AA Change: R265G
| 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 |
unknown
Transcript: ENSMUST00000200043
AA Change: R309G
|
| SMART Domains |
Protein: ENSMUSP00000143343
Gene: ENSMUSG00000028273
AA Change: R309G
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200650
AA Change: R126G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.0764 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (33/33) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
ACGC |
ACGCGC |
5: 138,645,710 (GRCm39) |
|
probably null |
Het |
| Adam1b |
C |
T |
5: 121,639,530 (GRCm39) |
C505Y |
probably damaging |
Het |
| Adam24 |
C |
A |
8: 41,133,587 (GRCm39) |
H352N |
probably damaging |
Het |
| Bcl6b |
A |
T |
11: 70,119,954 (GRCm39) |
L11Q |
probably damaging |
Het |
| C2cd5 |
A |
T |
6: 143,025,702 (GRCm39) |
V165E |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,836,192 (GRCm39) |
N852S |
probably benign |
Het |
| Cd320 |
T |
C |
17: 34,066,591 (GRCm39) |
C110R |
probably damaging |
Het |
| Cdk2ap1rt |
A |
C |
11: 48,717,115 (GRCm39) |
V21G |
probably damaging |
Het |
| Clasrp |
T |
A |
7: 19,324,207 (GRCm39) |
K223* |
probably null |
Het |
| Col5a1 |
C |
A |
2: 27,887,583 (GRCm39) |
N951K |
unknown |
Het |
| Csn2 |
T |
C |
5: 87,842,491 (GRCm39) |
T171A |
probably benign |
Het |
| Dse |
A |
G |
10: 34,028,537 (GRCm39) |
I851T |
probably benign |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Fbxo24 |
T |
A |
5: 137,611,135 (GRCm39) |
I413F |
probably damaging |
Het |
| Flywch2 |
C |
A |
17: 23,997,084 (GRCm39) |
G109V |
possibly damaging |
Het |
| Fnip1 |
A |
G |
11: 54,393,925 (GRCm39) |
D787G |
probably benign |
Het |
| Gramd1c |
T |
A |
16: 43,860,482 (GRCm39) |
R72* |
probably null |
Het |
| Hspd1 |
T |
C |
1: 55,117,777 (GRCm39) |
I494V |
probably benign |
Het |
| Limch1 |
T |
C |
5: 66,903,281 (GRCm39) |
V10A |
probably benign |
Het |
| Lrrfip1 |
C |
T |
1: 91,043,569 (GRCm39) |
S658F |
probably damaging |
Het |
| Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
| Naip1 |
C |
T |
13: 100,559,666 (GRCm39) |
G1113S |
probably benign |
Het |
| Nlrc3 |
A |
G |
16: 3,782,938 (GRCm39) |
I157T |
probably benign |
Het |
| Or4a67 |
A |
G |
2: 88,598,101 (GRCm39) |
V186A |
probably benign |
Het |
| Pgm1 |
C |
T |
4: 99,824,259 (GRCm39) |
R311* |
probably null |
Het |
| Ptcd3 |
T |
C |
6: 71,860,530 (GRCm39) |
Y559C |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,786,543 (GRCm39) |
S852P |
probably damaging |
Het |
| Rps6kb2 |
A |
T |
19: 4,208,850 (GRCm39) |
M259K |
probably damaging |
Het |
| Sema4b |
T |
C |
7: 79,862,676 (GRCm39) |
L84P |
probably benign |
Het |
| Slf1 |
A |
C |
13: 77,231,655 (GRCm39) |
S575A |
probably benign |
Het |
| Tjap1 |
T |
C |
17: 46,570,924 (GRCm39) |
N173S |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,803,781 (GRCm39) |
M1K |
probably null |
Het |
| Ubr1 |
C |
A |
2: 120,745,880 (GRCm39) |
K851N |
probably benign |
Het |
| Zfp568 |
C |
A |
7: 29,721,948 (GRCm39) |
R298S |
possibly damaging |
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 |
|
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 |
|
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'- TCCTATTACACAGAGGATAGCAAGAG -3'
(R):5'- TCGCTCATATCGTGGCTAATCC -3'
Sequencing Primer
(F):5'- TGTTACAGAACATTAAAAAGACCCAC -3'
(R):5'- ATCGTGGCTAATCCTTGGTTTATTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation