Incidental Mutation 'R1207:Pdlim2'
ID |
500176 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdlim2
|
Ensembl Gene |
ENSMUSG00000022090 |
Gene Name |
PDZ and LIM domain 2 |
Synonyms |
SLIM, 4732462F18Rik, mystique |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R1207 (G1)
|
Quality Score |
133 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
70401667-70415130 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 70402228 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 296
(R296H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116200
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022681]
[ENSMUST00000127836]
[ENSMUST00000129174]
[ENSMUST00000143393]
[ENSMUST00000153735]
|
AlphaFold |
Q8R1G6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022681
AA Change: R296H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022681 Gene: ENSMUSG00000022090 AA Change: R296H
Domain | Start | End | E-Value | Type |
PDZ
|
11 |
84 |
3.41e-17 |
SMART |
low complexity region
|
129 |
144 |
N/A |
INTRINSIC |
Pfam:DUF4749
|
169 |
256 |
4.4e-12 |
PFAM |
low complexity region
|
259 |
271 |
N/A |
INTRINSIC |
LIM
|
282 |
334 |
1.25e-6 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000125300
AA Change: R97H
|
SMART Domains |
Protein: ENSMUSP00000116694 Gene: ENSMUSG00000022090 AA Change: R97H
Domain | Start | End | E-Value | Type |
Pfam:DUF4749
|
7 |
58 |
6.4e-13 |
PFAM |
low complexity region
|
61 |
73 |
N/A |
INTRINSIC |
LIM
|
84 |
136 |
1.25e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000127836
AA Change: R75H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141050 Gene: ENSMUSG00000022090 AA Change: R75H
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
29 |
N/A |
INTRINSIC |
low complexity region
|
38 |
50 |
N/A |
INTRINSIC |
LIM
|
61 |
113 |
5.9e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000129174
AA Change: R75H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139820 Gene: ENSMUSG00000022090 AA Change: R75H
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
29 |
N/A |
INTRINSIC |
low complexity region
|
38 |
50 |
N/A |
INTRINSIC |
LIM
|
61 |
113 |
5.9e-9 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135944
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141363
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143393
|
SMART Domains |
Protein: ENSMUSP00000119222 Gene: ENSMUSG00000022090
Domain | Start | End | E-Value | Type |
PDZ
|
11 |
84 |
3.41e-17 |
SMART |
low complexity region
|
129 |
144 |
N/A |
INTRINSIC |
low complexity region
|
199 |
210 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000153735
AA Change: R296H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116200 Gene: ENSMUSG00000022090 AA Change: R296H
Domain | Start | End | E-Value | Type |
PDZ
|
11 |
84 |
3.41e-17 |
SMART |
low complexity region
|
129 |
144 |
N/A |
INTRINSIC |
low complexity region
|
199 |
210 |
N/A |
INTRINSIC |
low complexity region
|
241 |
250 |
N/A |
INTRINSIC |
low complexity region
|
259 |
271 |
N/A |
INTRINSIC |
LIM
|
282 |
334 |
1.25e-6 |
SMART |
|
Meta Mutation Damage Score |
0.8007 |
Coding Region Coverage |
- 1x: 98.5%
- 3x: 96.4%
- 10x: 87.4%
- 20x: 66.2%
|
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 the ALP subfamily of PDZ-LIM domain proteins. The encoded protein suppresses anchorage-dependent growth and promotes cell migration and adhesion through interactions with the actin cytoskeleton via the PDZ domain. The encoded protein is also a putative tumor suppressor protein, and decreased expression of this gene is associated with several malignancies including breast cancer and adult T-cell leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] PHENOTYPE: Mice homozygous for a knock-out allele display increased IFN-gamma production by Th1 cells and an enhanced inflammatory response to in vivo challenge with heat-killed Listeria monocytogenes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 11 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
Camsap3 |
C |
T |
8: 3,654,708 (GRCm39) |
R782C |
probably damaging |
Het |
Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
Parp4 |
A |
C |
14: 56,885,339 (GRCm39) |
I1473L |
unknown |
Het |
Sfi1 |
C |
CT |
11: 3,096,255 (GRCm39) |
|
probably null |
Het |
Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
Spmip8 |
G |
T |
8: 96,047,137 (GRCm39) |
R94L |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,587,404 (GRCm39) |
K13236M |
probably damaging |
Het |
Ugt1a10 |
G |
A |
1: 88,143,976 (GRCm39) |
A199T |
probably damaging |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Pdlim2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02295:Pdlim2
|
APN |
14 |
70,403,532 (GRCm39) |
splice site |
probably benign |
|
IGL02338:Pdlim2
|
APN |
14 |
70,411,906 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03286:Pdlim2
|
APN |
14 |
70,411,925 (GRCm39) |
missense |
possibly damaging |
0.88 |
PIT4504001:Pdlim2
|
UTSW |
14 |
70,403,579 (GRCm39) |
missense |
probably benign |
0.44 |
R0751:Pdlim2
|
UTSW |
14 |
70,402,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R0768:Pdlim2
|
UTSW |
14 |
70,402,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R0832:Pdlim2
|
UTSW |
14 |
70,402,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1167:Pdlim2
|
UTSW |
14 |
70,402,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1207:Pdlim2
|
UTSW |
14 |
70,402,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1343:Pdlim2
|
UTSW |
14 |
70,402,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1412:Pdlim2
|
UTSW |
14 |
70,411,773 (GRCm39) |
splice site |
probably benign |
|
R1595:Pdlim2
|
UTSW |
14 |
70,402,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R1689:Pdlim2
|
UTSW |
14 |
70,408,688 (GRCm39) |
missense |
probably damaging |
0.98 |
R1703:Pdlim2
|
UTSW |
14 |
70,411,784 (GRCm39) |
critical splice donor site |
probably null |
|
R1843:Pdlim2
|
UTSW |
14 |
70,402,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1845:Pdlim2
|
UTSW |
14 |
70,402,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1923:Pdlim2
|
UTSW |
14 |
70,402,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1924:Pdlim2
|
UTSW |
14 |
70,402,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1925:Pdlim2
|
UTSW |
14 |
70,402,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R2004:Pdlim2
|
UTSW |
14 |
70,402,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R2005:Pdlim2
|
UTSW |
14 |
70,402,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R2202:Pdlim2
|
UTSW |
14 |
70,402,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R2205:Pdlim2
|
UTSW |
14 |
70,402,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R2237:Pdlim2
|
UTSW |
14 |
70,408,698 (GRCm39) |
missense |
probably benign |
0.05 |
R2843:Pdlim2
|
UTSW |
14 |
70,403,549 (GRCm39) |
missense |
probably benign |
0.02 |
R4042:Pdlim2
|
UTSW |
14 |
70,402,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R4965:Pdlim2
|
UTSW |
14 |
70,405,464 (GRCm39) |
unclassified |
probably benign |
|
R4971:Pdlim2
|
UTSW |
14 |
70,405,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R5951:Pdlim2
|
UTSW |
14 |
70,405,229 (GRCm39) |
missense |
probably benign |
0.06 |
R6252:Pdlim2
|
UTSW |
14 |
70,405,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R7208:Pdlim2
|
UTSW |
14 |
70,411,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R7597:Pdlim2
|
UTSW |
14 |
70,403,645 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7627:Pdlim2
|
UTSW |
14 |
70,408,924 (GRCm39) |
missense |
probably benign |
|
R8342:Pdlim2
|
UTSW |
14 |
70,403,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R8554:Pdlim2
|
UTSW |
14 |
70,408,698 (GRCm39) |
missense |
probably benign |
|
R9361:Pdlim2
|
UTSW |
14 |
70,402,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
|
Posted On |
2017-12-01 |