Incidental Mutation 'R1412:Pdlim2'
| ID |
159648 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdlim2
|
| Ensembl Gene |
ENSMUSG00000022090 |
| Gene Name |
PDZ and LIM domain 2 |
| Synonyms |
SLIM, 4732462F18Rik, mystique |
| MMRRC Submission |
039468-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R1412 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70401667-70415130 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 70411773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022681]
[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 |
noncoding transcript
Transcript: ENSMUST00000123125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135944
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138792
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.5%
|
| Validation Efficiency |
98% (48/49) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
T |
C |
19: 8,867,359 (GRCm39) |
|
probably benign |
Het |
| Abca15 |
C |
T |
7: 119,944,546 (GRCm39) |
R394C |
possibly damaging |
Het |
| Adamts9 |
T |
C |
6: 92,773,414 (GRCm39) |
Q1152R |
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,243,569 (GRCm39) |
G6277E |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,619,298 (GRCm39) |
N41S |
probably benign |
Het |
| Akap7 |
A |
T |
10: 25,165,495 (GRCm39) |
|
probably null |
Het |
| Arl6ip1 |
A |
G |
7: 117,719,591 (GRCm39) |
I179T |
possibly damaging |
Het |
| Atp1a4 |
C |
T |
1: 172,059,576 (GRCm39) |
D839N |
probably damaging |
Het |
| B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
| C1qtnf12 |
T |
C |
4: 156,047,190 (GRCm39) |
V52A |
probably benign |
Het |
| C1qtnf2 |
A |
G |
11: 43,381,959 (GRCm39) |
Y257C |
probably damaging |
Het |
| Cdc123 |
A |
T |
2: 5,808,776 (GRCm39) |
D233E |
possibly damaging |
Het |
| Chdh |
G |
A |
14: 29,756,680 (GRCm39) |
E369K |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,172,695 (GRCm39) |
V491A |
probably benign |
Het |
| Focad |
T |
C |
4: 88,196,498 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
T |
C |
17: 37,365,805 (GRCm39) |
|
probably null |
Het |
| Hat1 |
G |
T |
2: 71,250,961 (GRCm39) |
E170* |
probably null |
Het |
| Hs3st5 |
A |
T |
10: 36,708,672 (GRCm39) |
H69L |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,235,196 (GRCm39) |
|
probably benign |
Het |
| Itga2b |
A |
T |
11: 102,347,831 (GRCm39) |
L890Q |
probably benign |
Het |
| Or52e8b |
A |
G |
7: 104,673,402 (GRCm39) |
F262L |
probably damaging |
Het |
| Or7d11 |
C |
G |
9: 19,966,711 (GRCm39) |
G16A |
possibly damaging |
Het |
| Parp10 |
A |
G |
15: 76,127,284 (GRCm39) |
L51P |
probably damaging |
Het |
| Pbld2 |
A |
G |
10: 62,883,301 (GRCm39) |
T108A |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,241,989 (GRCm39) |
V243A |
possibly damaging |
Het |
| Pla2g12b |
G |
A |
10: 59,239,804 (GRCm39) |
|
probably null |
Het |
| Raly |
A |
G |
2: 154,699,315 (GRCm39) |
T40A |
possibly damaging |
Het |
| Rasgrp3 |
G |
T |
17: 75,816,822 (GRCm39) |
|
probably null |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Smim22 |
G |
C |
16: 4,825,649 (GRCm39) |
E11D |
possibly damaging |
Het |
| Socs2 |
T |
C |
10: 95,250,780 (GRCm39) |
S18G |
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,228,151 (GRCm39) |
E720G |
possibly damaging |
Het |
| Tas2r135 |
A |
G |
6: 42,382,768 (GRCm39) |
I102M |
probably benign |
Het |
| Tex19.2 |
A |
G |
11: 121,007,761 (GRCm39) |
V229A |
possibly damaging |
Het |
| Vmn1r234 |
T |
A |
17: 21,449,512 (GRCm39) |
I142N |
probably benign |
Het |
| Vps35l |
A |
T |
7: 118,409,194 (GRCm39) |
I612F |
probably damaging |
Het |
| Vwa3a |
C |
T |
7: 120,379,377 (GRCm39) |
T494I |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,641,199 (GRCm39) |
D1166G |
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 |
|
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 |
|
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'- CTGTACCATTCTCATGGCTGGGAAC -3'
(R):5'- GCCACTCAAGCCTGTAAGGGATTAG -3'
Sequencing Primer
(F):5'- TGGGAACCAGTCAAACCTG -3'
(R):5'- GTATTCAGCAGCCAGCATCTG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation