Incidental Mutation 'R8342:Pdlim2'
| ID |
644978 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdlim2
|
| Ensembl Gene |
ENSMUSG00000022090 |
| Gene Name |
PDZ and LIM domain 2 |
| Synonyms |
SLIM, 4732462F18Rik, mystique |
| MMRRC Submission |
067731-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R8342 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
70401667-70415130 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 70403563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 283
(C283F)
|
| 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 damaging
Transcript: ENSMUST00000022681
AA Change: C283F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022681
Gene: ENSMUSG00000022090
AA Change: C283F
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000116694
Gene: ENSMUSG00000022090
AA Change: C84F
| 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 damaging
Transcript: ENSMUST00000127836
AA Change: C62F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141050
Gene: ENSMUSG00000022090
AA Change: C62F
| 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 damaging
Transcript: ENSMUST00000129174
AA Change: C62F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139820
Gene: ENSMUSG00000022090
AA Change: C62F
| 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 damaging
Transcript: ENSMUST00000153735
AA Change: C283F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116200
Gene: ENSMUSG00000022090
AA Change: C283F
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
A |
G |
6: 86,963,321 (GRCm39) |
D917G |
unknown |
Het |
| Adad1 |
T |
C |
3: 37,134,050 (GRCm39) |
S322P |
probably damaging |
Het |
| Agbl4 |
C |
T |
4: 110,976,224 (GRCm39) |
L194F |
probably damaging |
Het |
| Ahr |
C |
T |
12: 35,558,271 (GRCm39) |
G250R |
probably damaging |
Het |
| AI987944 |
A |
T |
7: 41,024,310 (GRCm39) |
I226N |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,691,619 (GRCm39) |
V1114A |
probably damaging |
Het |
| Ankrd49 |
C |
A |
9: 14,692,823 (GRCm39) |
A114S |
probably damaging |
Het |
| Arl6 |
C |
T |
16: 59,442,802 (GRCm39) |
G140D |
unknown |
Het |
| Arrdc3 |
A |
G |
13: 81,031,790 (GRCm39) |
S8G |
probably benign |
Het |
| Ate1 |
A |
T |
7: 130,105,495 (GRCm39) |
V298E |
probably benign |
Het |
| Atp6v1b2 |
A |
G |
8: 69,554,035 (GRCm39) |
I71V |
probably benign |
Het |
| Bin1 |
A |
G |
18: 32,546,166 (GRCm39) |
M112V |
probably benign |
Het |
| Camk2b |
C |
T |
11: 5,940,383 (GRCm39) |
A152T |
probably benign |
Het |
| Cars2 |
A |
C |
8: 11,579,706 (GRCm39) |
F251V |
probably damaging |
Het |
| Cdkl1 |
A |
T |
12: 69,800,952 (GRCm39) |
F229I |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,486,171 (GRCm39) |
Y556F |
possibly damaging |
Het |
| Chst15 |
T |
C |
7: 131,849,615 (GRCm39) |
N442S |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,436,707 (GRCm39) |
D1602E |
possibly damaging |
Het |
| Col9a3 |
A |
T |
2: 180,245,183 (GRCm39) |
I131F |
unknown |
Het |
| Cyp4f15 |
A |
T |
17: 32,909,733 (GRCm39) |
D110V |
possibly damaging |
Het |
| Dlec1 |
A |
G |
9: 118,968,457 (GRCm39) |
I1258V |
probably benign |
Het |
| Dpyd |
A |
G |
3: 119,108,452 (GRCm39) |
T832A |
possibly damaging |
Het |
| Eno1 |
A |
G |
4: 150,329,693 (GRCm39) |
Y189C |
probably damaging |
Het |
| Gnat3 |
A |
G |
5: 18,208,838 (GRCm39) |
T181A |
|
Het |
| Kif1b |
T |
C |
4: 149,306,805 (GRCm39) |
M852V |
probably damaging |
Het |
| Klk1b26 |
A |
T |
7: 43,665,508 (GRCm39) |
I139F |
probably damaging |
Het |
| Loxhd1 |
G |
A |
18: 77,493,681 (GRCm39) |
V1547M |
possibly damaging |
Het |
| Lrp4 |
A |
G |
2: 91,318,790 (GRCm39) |
T876A |
probably damaging |
Het |
| Malrd1 |
G |
T |
2: 15,638,035 (GRCm39) |
W451L |
unknown |
Het |
| Marchf6 |
A |
T |
15: 31,494,262 (GRCm39) |
N261K |
possibly damaging |
Het |
| Mcpt2 |
T |
C |
14: 56,280,250 (GRCm39) |
C50R |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,569,981 (GRCm39) |
V846A |
unknown |
Het |
| Muc5b |
A |
T |
7: 141,414,602 (GRCm39) |
D2516V |
unknown |
Het |
| Myh15 |
T |
C |
16: 48,913,120 (GRCm39) |
L359P |
probably benign |
Het |
| Nemp1 |
G |
A |
10: 127,528,898 (GRCm39) |
V201I |
probably benign |
Het |
| Nr2e1 |
A |
T |
10: 42,444,425 (GRCm39) |
L228Q |
probably damaging |
Het |
| Nrg1 |
C |
A |
8: 32,312,334 (GRCm39) |
V388L |
probably benign |
Het |
| Nrg3 |
T |
A |
14: 38,734,053 (GRCm39) |
T278S |
probably damaging |
Het |
| Numb |
T |
C |
12: 83,854,990 (GRCm39) |
E112G |
probably benign |
Het |
| Or1l4b |
T |
C |
2: 37,036,778 (GRCm39) |
S185P |
probably damaging |
Het |
| Or8g2b |
A |
C |
9: 39,751,612 (GRCm39) |
N294T |
probably damaging |
Het |
| Potegl |
T |
A |
2: 23,147,017 (GRCm39) |
|
probably null |
Het |
| Ppm1a |
G |
A |
12: 72,830,909 (GRCm39) |
G145R |
probably damaging |
Het |
| Pramel14 |
T |
A |
4: 143,720,809 (GRCm39) |
D44V |
probably benign |
Het |
| Pramel18 |
A |
T |
4: 101,767,581 (GRCm39) |
M277L |
probably benign |
Het |
| Prune2 |
C |
A |
19: 17,103,027 (GRCm39) |
Q2729K |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Scn9a |
G |
T |
2: 66,366,626 (GRCm39) |
T719K |
probably benign |
Het |
| Slc12a7 |
T |
C |
13: 73,933,281 (GRCm39) |
V113A |
probably benign |
Het |
| Slc23a1 |
C |
T |
18: 35,755,588 (GRCm39) |
G436E |
probably damaging |
Het |
| Slc37a2 |
A |
T |
9: 37,149,510 (GRCm39) |
|
probably null |
Het |
| Steap1 |
G |
A |
5: 5,790,816 (GRCm39) |
S44L |
probably benign |
Het |
| Sucnr1 |
C |
T |
3: 59,994,155 (GRCm39) |
R228C |
probably damaging |
Het |
| Sult3a1 |
G |
A |
10: 33,742,517 (GRCm39) |
G48D |
probably damaging |
Het |
| Syn3 |
A |
T |
10: 86,302,891 (GRCm39) |
V88D |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,058,622 (GRCm39) |
D7297G |
probably benign |
Het |
| Tmco5 |
T |
C |
2: 116,710,734 (GRCm39) |
I18T |
probably damaging |
Het |
| Trpc1 |
A |
G |
9: 95,608,601 (GRCm39) |
L230P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,719,785 (GRCm39) |
N7108S |
unknown |
Het |
| Ubr5 |
A |
G |
15: 38,025,081 (GRCm39) |
V559A |
|
Het |
| Ugt1a7c |
T |
C |
1: 88,022,973 (GRCm39) |
V44A |
possibly damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,790,494 (GRCm39) |
S494C |
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 |
|
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 |
|
|
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'- AAATGCCATTGTGTATAGCTGG -3'
Sequencing Primer
(F):5'- AGGTGCGTCATCTGGGTACAG -3'
(R):5'- ATGCCATTGTGTATAGCTGGATACC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation