Incidental Mutation 'R6395:Pdlim5'
ID |
514704 |
Institutional Source |
Beutler Lab
|
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 # |
R6395 (G1)
|
Quality Score |
221.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
141945351-142101457 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 142020183 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 92
(P92Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143343
(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
AA Change: P92Q
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000029941 Gene: ENSMUSG00000028273 AA Change: P92Q
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: P92Q
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000059267 Gene: ENSMUSG00000028273 AA Change: P92Q
Domain | Start | End | E-Value | Type |
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090134
AA Change: P92Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000087595 Gene: ENSMUSG00000028273 AA Change: P92Q
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: P92Q
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000132647 Gene: ENSMUSG00000028273 AA Change: P92Q
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: P92Q
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000128752 Gene: ENSMUSG00000028273 AA Change: P92Q
Domain | Start | End | E-Value | Type |
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
Pfam:DUF4749
|
101 |
207 |
2.7e-10 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000195975
AA Change: P92Q
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142737 Gene: ENSMUSG00000028273 AA Change: P92Q
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: P92Q
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000142460 Gene: ENSMUSG00000028273 AA Change: P92Q
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: P92Q
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000143098 Gene: ENSMUSG00000028273 AA Change: P92Q
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: ENSMUST00000198381
AA Change: P92Q
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000142899 Gene: ENSMUSG00000028273 AA Change: P92Q
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 damaging
Transcript: ENSMUST00000200043
AA Change: P92Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143343 Gene: ENSMUSG00000028273 AA Change: P92Q
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: 100.0%
- 3x: 100.0%
- 10x: 99.6%
- 20x: 98.3%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actc1 |
C |
A |
2: 113,879,731 (GRCm39) |
E243* |
probably null |
Het |
Ahi1 |
T |
C |
10: 20,855,491 (GRCm39) |
I600T |
possibly damaging |
Het |
Apob |
A |
G |
12: 8,058,507 (GRCm39) |
T2330A |
probably benign |
Het |
Cabin1 |
A |
T |
10: 75,582,576 (GRCm39) |
M280K |
probably benign |
Het |
Ccdc117 |
T |
C |
11: 5,484,762 (GRCm39) |
|
probably null |
Het |
Cct8 |
G |
T |
16: 87,283,364 (GRCm39) |
Y292* |
probably null |
Het |
Celf1 |
A |
G |
2: 90,834,203 (GRCm39) |
I165V |
probably benign |
Het |
Cenpc1 |
A |
T |
5: 86,183,429 (GRCm39) |
N453K |
probably benign |
Het |
Chst10 |
T |
C |
1: 38,910,770 (GRCm39) |
I131M |
probably damaging |
Het |
Cltc |
A |
G |
11: 86,616,006 (GRCm39) |
I420T |
probably damaging |
Het |
Cspg4b |
T |
G |
13: 113,506,003 (GRCm39) |
C2377W |
probably damaging |
Het |
Dact3 |
A |
C |
7: 16,617,086 (GRCm39) |
Q95P |
probably damaging |
Het |
Dennd2c |
T |
C |
3: 103,056,540 (GRCm39) |
|
probably null |
Het |
Dock2 |
G |
T |
11: 34,182,874 (GRCm39) |
H1586Q |
probably damaging |
Het |
Dst |
T |
C |
1: 34,221,771 (GRCm39) |
M2525T |
probably benign |
Het |
Egflam |
T |
C |
15: 7,261,176 (GRCm39) |
H786R |
probably damaging |
Het |
Eml6 |
T |
C |
11: 29,759,321 (GRCm39) |
T811A |
probably benign |
Het |
Epha1 |
T |
C |
6: 42,343,106 (GRCm39) |
T148A |
probably damaging |
Het |
Fsip1 |
A |
C |
2: 118,067,406 (GRCm39) |
S306A |
probably damaging |
Het |
Gga2 |
A |
T |
7: 121,607,661 (GRCm39) |
|
probably null |
Het |
Gm10801 |
C |
CGTT |
2: 98,494,152 (GRCm39) |
|
probably benign |
Het |
Gm9837 |
T |
A |
11: 53,360,885 (GRCm39) |
|
probably benign |
Het |
Gnl2 |
A |
T |
4: 124,940,058 (GRCm39) |
Q310L |
probably damaging |
Het |
H2-M1 |
T |
C |
17: 36,982,701 (GRCm39) |
D53G |
probably benign |
Het |
Hmcn2 |
T |
A |
2: 31,259,269 (GRCm39) |
D1036E |
probably damaging |
Het |
Htr3a |
A |
T |
9: 48,811,871 (GRCm39) |
D381E |
probably benign |
Het |
Igdcc4 |
G |
A |
9: 65,042,400 (GRCm39) |
G106R |
probably damaging |
Het |
Igfbp2 |
A |
G |
1: 72,864,078 (GRCm39) |
T114A |
probably damaging |
Het |
Ints14 |
A |
G |
9: 64,885,406 (GRCm39) |
|
probably null |
Het |
Kcnt1 |
T |
A |
2: 25,799,251 (GRCm39) |
M906K |
possibly damaging |
Het |
Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
Lars2 |
A |
G |
9: 123,200,990 (GRCm39) |
Q18R |
probably benign |
Het |
Mndal |
C |
T |
1: 173,698,999 (GRCm39) |
C222Y |
possibly damaging |
Het |
Msto1 |
C |
T |
3: 88,812,781 (GRCm39) |
A1854V |
possibly damaging |
Het |
Musk |
G |
A |
4: 58,286,169 (GRCm39) |
G20R |
probably benign |
Het |
Or6c215 |
G |
T |
10: 129,638,013 (GRCm39) |
P127Q |
probably damaging |
Het |
Oxct1 |
G |
T |
15: 4,056,309 (GRCm39) |
S19I |
possibly damaging |
Het |
Papss2 |
G |
A |
19: 32,641,876 (GRCm39) |
G517D |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,676,918 (GRCm39) |
S1017G |
probably benign |
Het |
Pde2a |
A |
G |
7: 101,150,242 (GRCm39) |
Q227R |
probably benign |
Het |
Pkd1l3 |
C |
T |
8: 110,350,595 (GRCm39) |
T480I |
probably benign |
Het |
Pla2g4c |
C |
T |
7: 13,077,933 (GRCm39) |
T357I |
probably benign |
Het |
Ppp3ca |
A |
G |
3: 136,583,531 (GRCm39) |
R213G |
possibly damaging |
Het |
Pramel18 |
G |
A |
4: 101,767,189 (GRCm39) |
R146H |
probably benign |
Het |
Prrc1 |
C |
T |
18: 57,495,619 (GRCm39) |
S32L |
probably null |
Het |
Prss47 |
C |
T |
13: 65,197,116 (GRCm39) |
V207I |
probably benign |
Het |
Prtg |
G |
A |
9: 72,819,414 (GRCm39) |
V1136I |
possibly damaging |
Het |
Psmb8 |
T |
A |
17: 34,418,265 (GRCm39) |
M69K |
possibly damaging |
Het |
Rb1 |
A |
T |
14: 73,436,636 (GRCm39) |
D876E |
probably damaging |
Het |
Rnasel |
T |
C |
1: 153,637,867 (GRCm39) |
M680T |
probably damaging |
Het |
Rnf111 |
G |
T |
9: 70,383,692 (GRCm39) |
N80K |
possibly damaging |
Het |
Senp1 |
C |
T |
15: 97,946,074 (GRCm39) |
C557Y |
probably damaging |
Het |
Serpina3a |
A |
T |
12: 104,082,710 (GRCm39) |
Y161F |
probably damaging |
Het |
Serpinb11 |
A |
T |
1: 107,299,781 (GRCm39) |
|
probably null |
Het |
Sgpl1 |
C |
A |
10: 60,947,936 (GRCm39) |
|
probably null |
Het |
Slc37a4 |
A |
G |
9: 44,310,576 (GRCm39) |
Y60C |
probably damaging |
Het |
Slc38a10 |
A |
G |
11: 120,015,208 (GRCm39) |
S381P |
probably benign |
Het |
Slc5a7 |
C |
T |
17: 54,585,849 (GRCm39) |
V323I |
probably damaging |
Het |
Slco1a7 |
T |
A |
6: 141,668,818 (GRCm39) |
|
probably null |
Het |
Smarcal1 |
A |
T |
1: 72,655,716 (GRCm39) |
E665V |
possibly damaging |
Het |
Specc1 |
C |
A |
11: 62,023,164 (GRCm39) |
N736K |
probably damaging |
Het |
Tas2r121 |
T |
C |
6: 132,677,495 (GRCm39) |
Y159C |
probably benign |
Het |
Tex54 |
A |
G |
19: 8,718,462 (GRCm39) |
D68G |
probably benign |
Het |
Trank1 |
A |
G |
9: 111,196,268 (GRCm39) |
I1431V |
probably damaging |
Het |
Ttll6 |
T |
C |
11: 96,047,414 (GRCm39) |
V671A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,748,931 (GRCm39) |
|
probably benign |
Het |
Uimc1 |
T |
C |
13: 55,188,389 (GRCm39) |
T557A |
possibly damaging |
Het |
Uri1 |
C |
A |
7: 37,661,974 (GRCm39) |
V446L |
probably benign |
Het |
Vpreb1b |
C |
T |
16: 17,798,771 (GRCm39) |
R86C |
probably damaging |
Het |
Vwa8 |
A |
G |
14: 79,331,184 (GRCm39) |
K1231E |
probably benign |
Het |
Xcr1 |
G |
A |
9: 123,684,854 (GRCm39) |
R303C |
probably damaging |
Het |
Zfp619 |
C |
A |
7: 39,186,454 (GRCm39) |
A828E |
possibly damaging |
Het |
Zfp687 |
T |
C |
3: 94,915,049 (GRCm39) |
S1151G |
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 |
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'- ACTTTGTAAGTTCTGGTTTCTACTTC -3'
(R):5'- AACGCTGACTTCTAATTACATGAG -3'
Sequencing Primer
(F):5'- CCCTCTTTGTTTCTTATGGGAAAG -3'
(R):5'- GCATTCCAGAGGTAGGATCTC -3'
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Posted On |
2018-05-04 |