Incidental Mutation 'R2843:Pdlim2'
| ID |
254401 |
| 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 # |
R2843 (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 70403549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 288
(V288I)
|
| 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
AA Change: V288I
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000022681
Gene: ENSMUSG00000022090
AA Change: V288I
| 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: V89I
|
| SMART Domains |
Protein: ENSMUSP00000116694
Gene: ENSMUSG00000022090
AA Change: V89I
| 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
AA Change: V67I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000141050
Gene: ENSMUSG00000022090
AA Change: V67I
| 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
AA Change: V67I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000139820
Gene: ENSMUSG00000022090
AA Change: V67I
| 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
AA Change: V288I
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000116200
Gene: ENSMUSG00000022090
AA Change: V288I
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
C |
T |
5: 90,674,324 (GRCm39) |
R279* |
probably null |
Het |
| Arhgef18 |
A |
G |
8: 3,414,634 (GRCm39) |
E4G |
possibly damaging |
Het |
| Fbxw7 |
G |
A |
3: 84,883,527 (GRCm39) |
R486Q |
probably damaging |
Het |
| Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
| Hmg20b |
G |
C |
10: 81,182,404 (GRCm39) |
R209G |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,245,746 (GRCm39) |
V2153A |
probably benign |
Het |
| Jade1 |
T |
C |
3: 41,559,280 (GRCm39) |
Y454H |
probably damaging |
Het |
| Kcnn3 |
CGCAGCAGCAGCAGCAGCAGCAG |
CGCAGCAGCAGCAGCAGCAG |
3: 89,427,972 (GRCm39) |
|
probably benign |
Het |
| Pknox2 |
T |
C |
9: 36,805,624 (GRCm39) |
N395S |
probably benign |
Het |
| Ppfia3 |
C |
A |
7: 45,005,852 (GRCm39) |
R348L |
probably damaging |
Het |
| Rad51 |
T |
C |
2: 118,949,114 (GRCm39) |
V38A |
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Vmn2r18 |
T |
A |
5: 151,485,749 (GRCm39) |
T582S |
probably damaging |
Het |
| Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
| Zfp84 |
T |
G |
7: 29,474,758 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- GCAGGCTTTTCTAAGAGGAGGG -3'
(R):5'- GTATAGCTGGATACCTCTGTGG -3'
Sequencing Primer
(F):5'- AGGTGCGTCATCTGGGTACAG -3'
(R):5'- GTGGACAGGCAGCTCTCATG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation