Incidental Mutation 'PIT4504001:Pdlim2'
ID |
556030 |
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 # |
PIT4504001 (G1)
|
Quality Score |
121.008 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
70401667-70415130 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 70403579 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 278
(P278T)
|
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: P278T
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000022681 Gene: ENSMUSG00000022090 AA Change: P278T
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 damaging
Transcript: ENSMUST00000125300
AA Change: P79T
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000116694 Gene: ENSMUSG00000022090 AA Change: P79T
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: P57T
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000141050 Gene: ENSMUSG00000022090 AA Change: P57T
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: P57T
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000139820 Gene: ENSMUSG00000022090 AA Change: P57T
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
|
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: P278T
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000116200 Gene: ENSMUSG00000022090 AA Change: P278T
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: 92.8%
- 3x: 90.6%
- 10x: 84.7%
- 20x: 71.6%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
T |
A |
2: 103,547,537 (GRCm39) |
C970* |
probably null |
Het |
Adgrv1 |
G |
A |
13: 81,707,471 (GRCm39) |
P1312S |
probably damaging |
Het |
Arid5a |
T |
C |
1: 36,356,706 (GRCm39) |
I116T |
probably damaging |
Het |
Bank1 |
C |
A |
3: 135,806,180 (GRCm39) |
D485Y |
probably damaging |
Het |
Cbln3 |
C |
T |
14: 56,120,956 (GRCm39) |
V122M |
probably damaging |
Het |
Cox10 |
C |
T |
11: 63,855,042 (GRCm39) |
C413Y |
possibly damaging |
Het |
Ctsll3 |
T |
A |
13: 60,948,823 (GRCm39) |
D44V |
probably benign |
Het |
Cuzd1 |
A |
T |
7: 130,911,529 (GRCm39) |
N483K |
possibly damaging |
Het |
Dcaf4 |
G |
A |
12: 83,580,785 (GRCm39) |
|
probably null |
Het |
Ddx60 |
A |
G |
8: 62,411,147 (GRCm39) |
T470A |
probably benign |
Het |
Dennd1b |
T |
C |
1: 138,967,742 (GRCm39) |
V44A |
probably benign |
Het |
Dusp16 |
C |
A |
6: 134,716,846 (GRCm39) |
V154F |
possibly damaging |
Het |
Ect2 |
G |
A |
3: 27,181,097 (GRCm39) |
R586* |
probably null |
Het |
Ermard |
T |
A |
17: 15,279,084 (GRCm39) |
C460* |
probably null |
Het |
Fat2 |
C |
T |
11: 55,146,936 (GRCm39) |
G4020D |
possibly damaging |
Het |
Flacc1 |
T |
A |
1: 58,698,258 (GRCm39) |
I348F |
probably benign |
Het |
Galnt16 |
G |
T |
12: 80,639,191 (GRCm39) |
E402* |
probably null |
Het |
Gm5414 |
T |
G |
15: 101,534,258 (GRCm39) |
D282A |
probably damaging |
Het |
Gm6741 |
C |
T |
17: 91,544,344 (GRCm39) |
Q36* |
probably null |
Het |
Gm7356 |
A |
T |
17: 14,221,720 (GRCm39) |
L103Q |
probably damaging |
Het |
Hcn1 |
A |
G |
13: 118,112,411 (GRCm39) |
T792A |
possibly damaging |
Het |
Hemgn |
T |
C |
4: 46,395,863 (GRCm39) |
N458D |
probably benign |
Het |
Hesx1 |
C |
A |
14: 26,723,838 (GRCm39) |
D140E |
probably benign |
Het |
Hjv |
A |
T |
3: 96,435,813 (GRCm39) |
D357V |
probably damaging |
Het |
Hmgcr |
A |
G |
13: 96,799,605 (GRCm39) |
I163T |
possibly damaging |
Het |
Igfbpl1 |
T |
C |
4: 45,813,469 (GRCm39) |
T249A |
possibly damaging |
Het |
Il33 |
A |
T |
19: 29,930,139 (GRCm39) |
H78L |
probably benign |
Het |
Inpp4b |
A |
T |
8: 82,768,564 (GRCm39) |
D691V |
probably damaging |
Het |
Itpr2 |
T |
A |
6: 146,131,369 (GRCm39) |
N1945I |
probably damaging |
Het |
Lnpep |
A |
G |
17: 17,799,289 (GRCm39) |
V122A |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,305,747 (GRCm39) |
D2938G |
probably damaging |
Het |
Lrrc8c |
A |
T |
5: 105,756,403 (GRCm39) |
Y726F |
probably benign |
Het |
Magi3 |
G |
T |
3: 103,922,842 (GRCm39) |
Q1292K |
probably benign |
Het |
Mllt3 |
A |
C |
4: 87,692,324 (GRCm39) |
F546L |
probably damaging |
Het |
Mrpl14 |
A |
G |
17: 46,009,147 (GRCm39) |
K82R |
probably benign |
Het |
Noxred1 |
A |
G |
12: 87,271,653 (GRCm39) |
V172A |
possibly damaging |
Het |
Obscn |
A |
T |
11: 59,023,948 (GRCm39) |
I574N |
probably damaging |
Het |
Or2n1b |
A |
G |
17: 38,460,060 (GRCm39) |
T194A |
probably benign |
Het |
Or5k8 |
T |
A |
16: 58,644,671 (GRCm39) |
T134S |
probably benign |
Het |
Osbpl11 |
T |
A |
16: 33,054,864 (GRCm39) |
V649D |
probably benign |
Het |
Pm20d2 |
A |
C |
4: 33,183,152 (GRCm39) |
L223V |
probably damaging |
Het |
Pmpcb |
G |
T |
5: 21,948,388 (GRCm39) |
R223L |
probably damaging |
Het |
Pole2 |
A |
T |
12: 69,256,759 (GRCm39) |
Y255* |
probably null |
Het |
Rims1 |
T |
A |
1: 22,467,684 (GRCm39) |
I317L |
|
Het |
Scnn1g |
C |
A |
7: 121,341,554 (GRCm39) |
H239N |
probably benign |
Het |
Spag17 |
A |
G |
3: 100,010,426 (GRCm39) |
|
probably null |
Het |
Tenm3 |
A |
T |
8: 48,746,692 (GRCm39) |
F1038I |
probably damaging |
Het |
Tshz2 |
T |
C |
2: 169,727,971 (GRCm39) |
F856L |
probably damaging |
Het |
Ubtf |
A |
G |
11: 102,197,508 (GRCm39) |
S715P |
unknown |
Het |
Usp13 |
A |
C |
3: 32,959,579 (GRCm39) |
S557R |
probably damaging |
Het |
Usp19 |
T |
A |
9: 108,370,169 (GRCm39) |
S43T |
probably benign |
Het |
Vmn2r7 |
A |
T |
3: 64,623,397 (GRCm39) |
Y308N |
probably benign |
Het |
Zfp455 |
A |
G |
13: 67,346,685 (GRCm39) |
D32G |
probably damaging |
Het |
Zfp512 |
T |
A |
5: 31,634,225 (GRCm39) |
|
probably null |
Het |
Zfr |
A |
G |
15: 12,166,244 (GRCm39) |
E838G |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCAGGCTTTTCTAAGAGGAGG -3'
(R):5'- CGGAGGAATGTCATAAAATGCC -3'
Sequencing Primer
(F):5'- AGGTGCGTCATCTGGGTACAG -3'
(R):5'- ATGCCATTGTGTATAGCTGGATACC -3'
|
Posted On |
2019-06-07 |