Incidental Mutation 'IGL02295:Pdlim2'
| ID |
290161 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.090)
|
| Stock # |
IGL02295
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
70401667-70415130 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 70403532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022681]
[ENSMUST00000127836]
[ENSMUST00000129174]
[ENSMUST00000143393]
[ENSMUST00000153735]
|
| AlphaFold |
Q8R1G6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022681
|
| SMART Domains |
Protein: ENSMUSP00000022681
Gene: ENSMUSG00000022090
| 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 |
probably benign
Transcript: ENSMUST00000125300
|
| SMART Domains |
Protein: ENSMUSP00000116694
Gene: ENSMUSG00000022090
| 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 benign
Transcript: ENSMUST00000127836
|
| SMART Domains |
Protein: ENSMUSP00000141050
Gene: ENSMUSG00000022090
| 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 benign
Transcript: ENSMUST00000129174
|
| SMART Domains |
Protein: ENSMUSP00000139820
Gene: ENSMUSG00000022090
| 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 benign
Transcript: ENSMUST00000153735
|
| SMART Domains |
Protein: ENSMUSP00000116200
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 |
|
low complexity region
|
241 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
271 |
N/A |
INTRINSIC |
|
LIM
|
282 |
334 |
1.25e-6 |
SMART |
|
| Coding Region Coverage |
|
| 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: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411K16Rik |
A |
G |
19: 42,041,394 (GRCm39) |
N175S |
possibly damaging |
Het |
| Adam20 |
A |
T |
8: 41,249,873 (GRCm39) |
N661I |
probably damaging |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or51f1 |
T |
A |
7: 102,506,031 (GRCm39) |
M153L |
probably benign |
Het |
| Or6c1b |
T |
A |
10: 129,272,903 (GRCm39) |
V74D |
possibly damaging |
Het |
| Phtf2 |
T |
C |
5: 21,012,428 (GRCm39) |
D49G |
probably damaging |
Het |
| Ppp1ca |
T |
A |
19: 4,244,481 (GRCm39) |
L180* |
probably null |
Het |
| Prdm10 |
T |
C |
9: 31,273,664 (GRCm39) |
V1027A |
probably benign |
Het |
| Slc38a10 |
T |
C |
11: 120,007,684 (GRCm39) |
|
probably benign |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Vmn1r172 |
A |
T |
7: 23,359,342 (GRCm39) |
T76S |
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,692,406 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pdlim2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation