Incidental Mutation 'R7627:Pdlim2'
| ID |
589515 |
| 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: 0.090)
|
| Stock # |
R7627 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
70401667-70415130 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70408924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 151
(D151G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022681]
[ENSMUST00000127836]
[ENSMUST00000129174]
[ENSMUST00000143393]
[ENSMUST00000153735]
|
| AlphaFold |
Q8R1G6 |
| PDB Structure |
Solution structure of the PDZ domain of PDZ and LIM domain 2 [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022681
AA Change: D151G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022681
Gene: ENSMUSG00000022090
AA Change: D151G
| 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 |
probably benign
Transcript: ENSMUST00000143393
AA Change: D151G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119222
Gene: ENSMUSG00000022090
AA Change: D151G
| 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: D151G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116200
Gene: ENSMUSG00000022090
AA Change: D151G
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230112D13Rik |
T |
A |
14: 34,234,055 (GRCm39) |
I79L |
unknown |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Acvrl1 |
G |
A |
15: 101,033,747 (GRCm39) |
R143Q |
probably benign |
Het |
| Adam22 |
A |
G |
5: 8,417,933 (GRCm39) |
S8P |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,617,690 (GRCm39) |
I2054T |
possibly damaging |
Het |
| Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,157,152 (GRCm39) |
|
probably benign |
Het |
| Cad |
T |
A |
5: 31,217,508 (GRCm39) |
L354Q |
probably damaging |
Het |
| Ccdc15 |
A |
T |
9: 37,253,698 (GRCm39) |
C184S |
unknown |
Het |
| Ccl8 |
A |
G |
11: 82,006,865 (GRCm39) |
D26G |
probably benign |
Het |
| Ccsap |
T |
C |
8: 124,569,097 (GRCm39) |
Y248C |
probably damaging |
Het |
| Col5a1 |
T |
G |
2: 27,840,665 (GRCm39) |
Y271* |
probably null |
Het |
| Dnmt3b |
A |
G |
2: 153,519,500 (GRCm39) |
N695S |
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,156,140 (GRCm39) |
C234R |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,101,111 (GRCm39) |
D2758E |
probably benign |
Het |
| Eif2ak3 |
A |
T |
6: 70,869,919 (GRCm39) |
T869S |
probably benign |
Het |
| Foxn4 |
G |
T |
5: 114,398,495 (GRCm39) |
P175H |
possibly damaging |
Het |
| Gbp5 |
T |
G |
3: 142,206,319 (GRCm39) |
M1R |
probably null |
Het |
| Glp2r |
G |
T |
11: 67,637,589 (GRCm39) |
L30I |
unknown |
Het |
| Gls |
A |
T |
1: 52,205,425 (GRCm39) |
D639E |
probably benign |
Het |
| Gm5145 |
G |
T |
17: 20,790,654 (GRCm39) |
E11* |
probably null |
Het |
| Gm9772 |
T |
A |
17: 22,226,160 (GRCm39) |
K41N |
probably damaging |
Het |
| Gnat3 |
A |
T |
5: 18,204,746 (GRCm39) |
D133V |
|
Het |
| Gse1 |
C |
A |
8: 121,299,516 (GRCm39) |
P849T |
unknown |
Het |
| H2ac15 |
C |
A |
13: 21,937,916 (GRCm39) |
V28L |
probably benign |
Het |
| Hoxb9 |
A |
G |
11: 96,165,521 (GRCm39) |
T197A |
probably damaging |
Het |
| Krt39 |
A |
G |
11: 99,405,575 (GRCm39) |
S442P |
possibly damaging |
Het |
| Leng9 |
A |
G |
7: 4,151,617 (GRCm39) |
L353P |
probably damaging |
Het |
| Mamdc2 |
A |
T |
19: 23,288,355 (GRCm39) |
M561K |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,458,225 (GRCm39) |
V395A |
probably damaging |
Het |
| Mrpl32 |
G |
A |
13: 14,787,498 (GRCm39) |
R36C |
probably benign |
Het |
| Or6b2b |
A |
T |
1: 92,419,107 (GRCm39) |
Y123* |
probably null |
Het |
| Or7e168 |
A |
G |
9: 19,719,947 (GRCm39) |
D111G |
probably damaging |
Het |
| Papss1 |
T |
A |
3: 131,290,873 (GRCm39) |
D205E |
probably benign |
Het |
| Pdxp |
T |
C |
15: 78,798,339 (GRCm39) |
V57A |
probably damaging |
Het |
| Plec |
T |
A |
15: 76,061,594 (GRCm39) |
E2781V |
probably damaging |
Het |
| Prr7 |
GCGCCGCCGCACGCGCACCCGCACCCACACCATCACGCACTGCCGCACCCACCGCCGCCGCAC |
GCGCCGCCGCAC |
13: 55,620,147 (GRCm39) |
|
probably benign |
Het |
| Rnf32 |
G |
A |
5: 29,402,948 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,776,213 (GRCm39) |
V1108A |
possibly damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,686,104 (GRCm39) |
H276R |
probably benign |
Het |
| Slco1a7 |
C |
T |
6: 141,690,271 (GRCm39) |
V161I |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,032,944 (GRCm39) |
D1000E |
probably damaging |
Het |
| Sva |
C |
A |
6: 42,019,598 (GRCm39) |
Q153K |
unknown |
Het |
| Tmprss11d |
T |
C |
5: 86,457,365 (GRCm39) |
Y236C |
possibly damaging |
Het |
| Zfp160 |
T |
C |
17: 21,247,270 (GRCm39) |
S607P |
probably damaging |
Het |
| Zfp82 |
C |
A |
7: 29,756,147 (GRCm39) |
G312W |
probably damaging |
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 |
|
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 |
|
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'- TGTGTCAGACTCTGGAAACTG -3'
(R):5'- TTCCAGTCATGAGCTACAGC -3'
Sequencing Primer
(F):5'- TGTGTCAGACTCTGGAAACTGAAATG -3'
(R):5'- TCAAGGGTGCAGCCAGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation