Incidental Mutation 'R9082:Pdlim5'
| ID |
690065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdlim5
|
| Ensembl Gene |
ENSMUSG00000028273 |
| Gene Name |
PDZ and LIM domain 5 |
| Synonyms |
Enh, 1110001A05Rik, Enh3, Enh2 |
| MMRRC Submission |
068901-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9082 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
141945351-142101457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 142009163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 191
(V191I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087595
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029941]
[ENSMUST00000058626]
[ENSMUST00000090134]
[ENSMUST00000168967]
[ENSMUST00000170361]
[ENSMUST00000195975]
[ENSMUST00000196220]
[ENSMUST00000196908]
[ENSMUST00000198381]
[ENSMUST00000200043]
|
| AlphaFold |
Q8CI51 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029941
|
| SMART Domains |
Protein: ENSMUSP00000029941
Gene: ENSMUSG00000028273
| 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: ENSMUST00000058626
AA Change: V216I
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000059267
Gene: ENSMUSG00000028273
AA Change: V216I
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090134
AA Change: V191I
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000087595
Gene: ENSMUSG00000028273
AA Change: V191I
| 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
AA Change: V211I
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000132647
Gene: ENSMUSG00000028273
AA Change: V211I
| 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
AA Change: V216I
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128752
Gene: ENSMUSG00000028273
AA Change: V216I
| 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 |
probably benign
Transcript: ENSMUST00000196908
AA Change: V314I
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000143098
Gene: ENSMUSG00000028273
AA Change: V314I
| 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: ENSMUST00000197808
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200650
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (55/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
G |
T |
5: 90,698,095 (GRCm39) |
C499F |
probably damaging |
Het |
| Agap2 |
A |
G |
10: 126,918,911 (GRCm39) |
E429G |
probably damaging |
Het |
| Ankrd22 |
A |
T |
19: 34,126,662 (GRCm39) |
V56D |
probably damaging |
Het |
| Apol11b |
C |
T |
15: 77,524,771 (GRCm39) |
E5K |
possibly damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,099,874 (GRCm39) |
S408L |
unknown |
Het |
| Cdk4 |
T |
A |
10: 126,900,732 (GRCm39) |
L128Q |
probably damaging |
Het |
| Clu |
T |
C |
14: 66,217,153 (GRCm39) |
S329P |
probably damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,637,335 (GRCm39) |
N1071D |
probably damaging |
Het |
| Col5a1 |
T |
C |
2: 27,852,122 (GRCm39) |
S540P |
possibly damaging |
Het |
| Cpne2 |
A |
C |
8: 95,295,237 (GRCm39) |
I441L |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,203,952 (GRCm39) |
S87P |
probably damaging |
Het |
| Dhodh |
G |
T |
8: 110,322,734 (GRCm39) |
N211K |
probably damaging |
Het |
| Dtnb |
G |
A |
12: 3,822,740 (GRCm39) |
A570T |
possibly damaging |
Het |
| Eif3m |
A |
T |
2: 104,836,217 (GRCm39) |
V209E |
probably damaging |
Het |
| Fbxo31 |
G |
A |
8: 122,281,136 (GRCm39) |
R337C |
probably damaging |
Het |
| Fktn |
T |
C |
4: 53,720,010 (GRCm39) |
V8A |
unknown |
Het |
| Ftdc1 |
T |
C |
16: 58,437,294 (GRCm39) |
R5G |
probably benign |
Het |
| Gcnt1 |
G |
T |
19: 17,307,559 (GRCm39) |
S55R |
probably benign |
Het |
| Gm11011 |
G |
T |
2: 169,426,424 (GRCm39) |
P63Q |
|
Het |
| Grk5 |
T |
C |
19: 61,034,567 (GRCm39) |
I105T |
possibly damaging |
Het |
| Gskip |
G |
A |
12: 105,665,009 (GRCm39) |
S16N |
probably benign |
Het |
| Gys1 |
C |
A |
7: 45,088,917 (GRCm39) |
N169K |
probably benign |
Het |
| Itgb2 |
T |
C |
10: 77,384,503 (GRCm39) |
L208P |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,607,878 (GRCm39) |
C568R |
probably damaging |
Het |
| Krt84 |
C |
T |
15: 101,440,814 (GRCm39) |
G126D |
unknown |
Het |
| Lrrc26 |
T |
A |
2: 25,180,344 (GRCm39) |
F115Y |
probably damaging |
Het |
| Mul1 |
T |
C |
4: 138,166,945 (GRCm39) |
I338T |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,412,660 (GRCm39) |
L716H |
probably damaging |
Het |
| Ncoa1 |
C |
T |
12: 4,346,106 (GRCm39) |
V414I |
probably benign |
Het |
| Negr1 |
C |
A |
3: 156,774,876 (GRCm39) |
C197* |
probably null |
Het |
| Nisch |
G |
T |
14: 30,899,331 (GRCm39) |
A438E |
unknown |
Het |
| Nsun5 |
T |
C |
5: 135,402,828 (GRCm39) |
L174P |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,903,612 (GRCm39) |
V7454E |
probably benign |
Het |
| Optn |
A |
C |
2: 5,059,451 (GRCm39) |
N22K |
probably damaging |
Het |
| Or5k15 |
C |
T |
16: 58,709,834 (GRCm39) |
V250M |
probably damaging |
Het |
| Or6d13 |
G |
A |
6: 116,517,969 (GRCm39) |
C185Y |
probably damaging |
Het |
| Pcdhb22 |
A |
G |
18: 37,653,047 (GRCm39) |
N248S |
probably damaging |
Het |
| Pcnx2 |
A |
C |
8: 126,613,753 (GRCm39) |
L566R |
probably damaging |
Het |
| Pdzrn3 |
C |
T |
6: 101,146,094 (GRCm39) |
|
probably null |
Het |
| Peak1 |
A |
T |
9: 56,165,504 (GRCm39) |
I808N |
probably benign |
Het |
| Pomt1 |
A |
C |
2: 32,142,973 (GRCm39) |
Y617S |
probably damaging |
Het |
| Ptch2 |
G |
A |
4: 116,962,297 (GRCm39) |
|
probably null |
Het |
| Rptn |
A |
G |
3: 93,302,928 (GRCm39) |
H87R |
possibly damaging |
Het |
| Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
| Slc37a4 |
A |
G |
9: 44,313,016 (GRCm39) |
T333A |
probably benign |
Het |
| Slc5a7 |
A |
G |
17: 54,604,139 (GRCm39) |
V9A |
probably benign |
Het |
| Slc6a20a |
A |
G |
9: 123,507,832 (GRCm39) |
F14L |
possibly damaging |
Het |
| Smg7 |
A |
T |
1: 152,715,928 (GRCm39) |
M1062K |
probably damaging |
Het |
| Tsc22d4 |
T |
C |
5: 137,749,509 (GRCm39) |
Y262H |
probably damaging |
Het |
| Vmn2r83 |
C |
T |
10: 79,304,894 (GRCm39) |
H35Y |
probably benign |
Het |
| Zc3h13 |
CAGAGACCGGGACAGAAGGAGAGAC |
CAGAGAC |
14: 75,569,381 (GRCm39) |
|
probably benign |
Het |
| Zeb1 |
C |
T |
18: 5,772,557 (GRCm39) |
H949Y |
probably damaging |
Het |
| Zfp184 |
T |
A |
13: 22,143,636 (GRCm39) |
H447Q |
probably damaging |
Het |
| Zfp551 |
T |
C |
7: 12,151,004 (GRCm39) |
E135G |
probably 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 |
|
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 |
|
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'- CCAATTGTTCTAGTTTTCACGAGTC -3'
(R):5'- ATTTCCAGGAGGACTCTGCAG -3'
Sequencing Primer
(F):5'- TGTTCTAGTTTTCACGAGTCAAATG -3'
(R):5'- CAGGAGGACTCTGCAGACTAATTTC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation