Incidental Mutation 'R6911:Pdlim5'
| ID |
539009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdlim5
|
| Ensembl Gene |
ENSMUSG00000028273 |
| Gene Name |
PDZ and LIM domain 5 |
| Synonyms |
Enh, 1110001A05Rik, Enh3, Enh2 |
| MMRRC Submission |
045003-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6911 (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 142010076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 289
(I289V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029941]
[ENSMUST00000058626]
[ENSMUST00000090134]
[ENSMUST00000168967]
[ENSMUST00000170361]
[ENSMUST00000195975]
[ENSMUST00000196220]
[ENSMUST00000196908]
[ENSMUST00000198381]
[ENSMUST00000200043]
|
| AlphaFold |
Q8CI51 |
| PDB Structure |
Solution structure of the PDZ domain of Enigma homologue protein [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029941
AA Change: I289V
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029941
Gene: ENSMUSG00000028273
AA Change: I289V
| 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: I191V
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000059267
Gene: ENSMUSG00000028273
AA Change: I191V
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090134
AA Change: I166V
PolyPhen 2
Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000087595
Gene: ENSMUSG00000028273
AA Change: I166V
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
|
low complexity region
|
111 |
118 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168967
AA Change: I186V
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132647
Gene: ENSMUSG00000028273
AA Change: I186V
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
|
low complexity region
|
144 |
171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170361
AA Change: I191V
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128752
Gene: ENSMUSG00000028273
AA Change: I191V
| 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: I180V
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142737
Gene: ENSMUSG00000028273
AA Change: I180V
| 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: I180V
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142460
Gene: ENSMUSG00000028273
AA Change: I180V
| 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: I289V
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000143098
Gene: ENSMUSG00000028273
AA Change: I289V
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
|
low complexity region
|
144 |
171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198381
AA Change: I180V
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142899
Gene: ENSMUSG00000028273
AA Change: I180V
| 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: ENSMUST00000200043
AA Change: I180V
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143343
Gene: ENSMUSG00000028273
AA Change: I180V
| 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
|
| Meta Mutation Damage Score |
0.0908 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.1%
|
| Validation Efficiency |
98% (60/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
A |
15: 81,948,068 (GRCm39) |
M655K |
probably benign |
Het |
| Adam34l |
A |
T |
8: 44,078,146 (GRCm39) |
F693I |
probably benign |
Het |
| Amt |
G |
T |
9: 108,178,428 (GRCm39) |
|
probably null |
Het |
| Anapc7 |
A |
T |
5: 122,578,343 (GRCm39) |
K443* |
probably null |
Het |
| Apcs |
A |
G |
1: 172,721,752 (GRCm39) |
V198A |
probably benign |
Het |
| Atp2a1 |
A |
G |
7: 126,056,008 (GRCm39) |
V271A |
probably damaging |
Het |
| Bltp2 |
T |
A |
11: 78,159,179 (GRCm39) |
I459N |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 104,912,411 (GRCm39) |
I555T |
possibly damaging |
Het |
| Cgnl1 |
T |
C |
9: 71,563,497 (GRCm39) |
E810G |
possibly damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,199,009 (GRCm39) |
D101G |
probably damaging |
Het |
| Coq7 |
T |
A |
7: 118,109,385 (GRCm39) |
H221L |
unknown |
Het |
| Depdc5 |
A |
T |
5: 33,081,536 (GRCm39) |
Q566L |
probably damaging |
Het |
| Dync1i2 |
G |
A |
2: 71,077,446 (GRCm39) |
V233I |
probably benign |
Het |
| Erp44 |
G |
T |
4: 48,204,268 (GRCm39) |
H298N |
probably benign |
Het |
| Fam162a |
A |
G |
16: 35,866,747 (GRCm39) |
|
probably null |
Het |
| Fancd2 |
A |
G |
6: 113,525,346 (GRCm39) |
E274G |
probably damaging |
Het |
| Fkbp15 |
G |
T |
4: 62,258,527 (GRCm39) |
Q147K |
probably damaging |
Het |
| Ganab |
T |
A |
19: 8,885,152 (GRCm39) |
|
probably null |
Het |
| Gfm1 |
T |
C |
3: 67,358,636 (GRCm39) |
V409A |
possibly damaging |
Het |
| Gnptab |
G |
A |
10: 88,267,258 (GRCm39) |
G450S |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 34,542,185 (GRCm39) |
M1L |
probably benign |
Het |
| Helz |
C |
T |
11: 107,510,051 (GRCm39) |
T558I |
probably benign |
Het |
| Htra4 |
A |
G |
8: 25,515,721 (GRCm39) |
V439A |
probably damaging |
Het |
| Kctd17 |
A |
G |
15: 78,318,206 (GRCm39) |
E95G |
probably damaging |
Het |
| Kif18b |
T |
C |
11: 102,807,206 (GRCm39) |
D43G |
probably damaging |
Het |
| Lrpprc |
G |
A |
17: 85,063,711 (GRCm39) |
S550L |
possibly damaging |
Het |
| Lrrfip1 |
T |
A |
1: 91,042,529 (GRCm39) |
C311* |
probably null |
Het |
| Mcoln2 |
C |
T |
3: 145,898,011 (GRCm39) |
T44I |
probably damaging |
Het |
| Med13l |
A |
G |
5: 118,893,723 (GRCm39) |
T2010A |
possibly damaging |
Het |
| Med23 |
C |
T |
10: 24,778,079 (GRCm39) |
T803M |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,357,716 (GRCm39) |
F290S |
probably damaging |
Het |
| Myh13 |
C |
T |
11: 67,245,753 (GRCm39) |
Q1095* |
probably null |
Het |
| Nktr |
C |
A |
9: 121,583,392 (GRCm39) |
Y93* |
probably null |
Het |
| Nox3 |
A |
G |
17: 3,736,198 (GRCm39) |
S143P |
probably damaging |
Het |
| Ntrk2 |
A |
T |
13: 59,007,029 (GRCm39) |
E210D |
probably damaging |
Het |
| Nup210 |
G |
T |
6: 91,007,112 (GRCm39) |
A568E |
probably damaging |
Het |
| Or10ak9 |
T |
A |
4: 118,726,335 (GRCm39) |
M119K |
probably damaging |
Het |
| Or2y1g |
A |
G |
11: 49,171,634 (GRCm39) |
I220V |
probably benign |
Het |
| Or4g16 |
A |
G |
2: 111,136,618 (GRCm39) |
T23A |
probably benign |
Het |
| Or5as1 |
T |
A |
2: 86,980,111 (GRCm39) |
K298I |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Per1 |
C |
T |
11: 68,994,083 (GRCm39) |
T443M |
probably damaging |
Het |
| Plxna1 |
A |
G |
6: 89,297,956 (GRCm39) |
V1774A |
probably damaging |
Het |
| Poteg |
A |
G |
8: 27,940,326 (GRCm39) |
Y165C |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,329,270 (GRCm39) |
T582A |
probably benign |
Het |
| Psma5 |
A |
G |
3: 108,172,464 (GRCm39) |
E60G |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Ryr2 |
T |
C |
13: 11,842,445 (GRCm39) |
N484S |
possibly damaging |
Het |
| Sec31a |
A |
G |
5: 100,541,123 (GRCm39) |
I328T |
possibly damaging |
Het |
| Slc12a2 |
G |
T |
18: 58,052,541 (GRCm39) |
V787L |
probably benign |
Het |
| St14 |
C |
T |
9: 31,018,081 (GRCm39) |
R177Q |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tom1l1 |
G |
T |
11: 90,534,987 (GRCm39) |
|
probably null |
Het |
| Ttf1 |
A |
G |
2: 28,954,863 (GRCm39) |
R76G |
probably benign |
Het |
| Ube4a |
C |
T |
9: 44,854,056 (GRCm39) |
E581K |
probably damaging |
Het |
| Vmn2r114 |
A |
G |
17: 23,510,104 (GRCm39) |
V792A |
probably damaging |
Het |
| Wdr11 |
T |
C |
7: 129,208,819 (GRCm39) |
I430T |
probably benign |
Het |
| Xkr4 |
T |
C |
1: 3,741,544 (GRCm39) |
K10E |
possibly damaging |
Het |
| Zfp451 |
T |
C |
1: 33,842,537 (GRCm39) |
|
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 |
|
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 |
|
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'- TTCAGTGCGATTCCCTGGAC -3'
(R):5'- ACCCTTTAGCACAGTTTACTCTAAC -3'
Sequencing Primer
(F):5'- GGACTGGAATCTTCTTTTGTACAAC -3'
(R):5'- GCACAGTTTACTCTAACCTATACATG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation