Incidental Mutation 'IGL02834:Pdlim3'
| ID |
361572 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdlim3
|
| Ensembl Gene |
ENSMUSG00000031636 |
| Gene Name |
PDZ and LIM domain 3 |
| Synonyms |
ALP |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.702)
|
| Stock # |
IGL02834
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
46338498-46372585 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46370569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 290
(R290G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034053]
[ENSMUST00000210422]
|
| AlphaFold |
O70209 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034053
AA Change: R242G
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000034053
Gene: ENSMUSG00000031636
AA Change: R242G
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
11 |
84 |
3.86e-16 |
SMART |
|
ZM
|
137 |
162 |
5.55e-11 |
SMART |
|
LIM
|
245 |
296 |
3.73e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209216
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210422
AA Change: R290G
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210432
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for a knock-out allele show no major defects in skeletal muscle. However, homozygotes for another knock-out allele show partial background-sensitive prenatal lethality, embryonic right ventricular (RV) dilation and dysplasia, hypotrabeculation, and RV cardiomyopathy in surviving adults. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(1) Targeted, other(1) |
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
A |
T |
8: 78,091,729 (GRCm39) |
L430Q |
probably damaging |
Het |
| Cc2d2a |
C |
T |
5: 43,871,863 (GRCm39) |
R900* |
probably null |
Het |
| Cd14 |
A |
G |
18: 36,858,556 (GRCm39) |
Y300H |
probably benign |
Het |
| Dgcr8 |
T |
A |
16: 18,090,623 (GRCm39) |
T584S |
probably benign |
Het |
| Epb41l5 |
C |
T |
1: 119,551,685 (GRCm39) |
G100D |
probably benign |
Het |
| Fat4 |
G |
A |
3: 39,010,893 (GRCm39) |
G1998R |
probably damaging |
Het |
| Fndc3b |
A |
T |
3: 27,562,652 (GRCm39) |
L279H |
probably damaging |
Het |
| Gabrr1 |
A |
G |
4: 33,151,426 (GRCm39) |
E114G |
probably damaging |
Het |
| Gpr141b |
A |
T |
13: 19,914,045 (GRCm39) |
|
noncoding transcript |
Het |
| Hrh2 |
A |
G |
13: 54,369,019 (GRCm39) |
R332G |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,081,625 (GRCm39) |
I180V |
probably benign |
Het |
| Lyg2 |
T |
A |
1: 37,949,048 (GRCm39) |
R105W |
probably damaging |
Het |
| Myc |
A |
G |
15: 61,859,515 (GRCm39) |
I64V |
probably damaging |
Het |
| Nrcam |
G |
A |
12: 44,587,858 (GRCm39) |
|
probably null |
Het |
| Ogdhl |
A |
G |
14: 32,047,903 (GRCm39) |
Y51C |
probably damaging |
Het |
| Or13p5 |
C |
T |
4: 118,591,803 (GRCm39) |
L26F |
probably benign |
Het |
| Or51m1 |
T |
A |
7: 103,578,601 (GRCm39) |
C190* |
probably null |
Het |
| Ppm1l |
G |
A |
3: 69,456,676 (GRCm39) |
A198T |
probably damaging |
Het |
| Prkd2 |
A |
G |
7: 16,579,859 (GRCm39) |
D119G |
probably damaging |
Het |
| Rapgef3 |
A |
T |
15: 97,646,146 (GRCm39) |
I820N |
probably damaging |
Het |
| Scnn1b |
A |
G |
7: 121,511,285 (GRCm39) |
Y324C |
probably damaging |
Het |
| Smc5 |
G |
A |
19: 23,234,968 (GRCm39) |
R289C |
probably benign |
Het |
| Vmn2r51 |
T |
A |
7: 9,832,063 (GRCm39) |
R508* |
probably null |
Het |
| Vps13c |
A |
T |
9: 67,845,137 (GRCm39) |
I2074L |
probably benign |
Het |
| Wdr64 |
T |
C |
1: 175,633,415 (GRCm39) |
|
probably benign |
Het |
| Ydjc |
C |
T |
16: 16,965,153 (GRCm39) |
P74L |
probably benign |
Het |
|
| Other mutations in Pdlim3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00767:Pdlim3
|
APN |
8 |
46,349,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01341:Pdlim3
|
APN |
8 |
46,368,277 (GRCm39) |
missense |
probably benign |
|
|
IGL02189:Pdlim3
|
APN |
8 |
46,338,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03165:Pdlim3
|
APN |
8 |
46,372,035 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
C9142:Pdlim3
|
UTSW |
8 |
46,349,869 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0244:Pdlim3
|
UTSW |
8 |
46,361,497 (GRCm39) |
intron |
probably benign |
|
|
R0369:Pdlim3
|
UTSW |
8 |
46,370,543 (GRCm39) |
missense |
probably benign |
|
|
R1052:Pdlim3
|
UTSW |
8 |
46,349,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1142:Pdlim3
|
UTSW |
8 |
46,371,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1531:Pdlim3
|
UTSW |
8 |
46,349,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1607:Pdlim3
|
UTSW |
8 |
46,349,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1645:Pdlim3
|
UTSW |
8 |
46,349,785 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5641:Pdlim3
|
UTSW |
8 |
46,368,300 (GRCm39) |
splice site |
probably null |
|
|
R5731:Pdlim3
|
UTSW |
8 |
46,368,284 (GRCm39) |
missense |
probably benign |
|
|
R6501:Pdlim3
|
UTSW |
8 |
46,361,639 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7111:Pdlim3
|
UTSW |
8 |
46,370,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7637:Pdlim3
|
UTSW |
8 |
46,362,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7701:Pdlim3
|
UTSW |
8 |
46,361,576 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8223:Pdlim3
|
UTSW |
8 |
46,353,562 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8380:Pdlim3
|
UTSW |
8 |
46,370,572 (GRCm39) |
missense |
probably benign |
|
|
R9163:Pdlim3
|
UTSW |
8 |
46,338,711 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9673:Pdlim3
|
UTSW |
8 |
46,368,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Z1177:Pdlim3
|
UTSW |
8 |
46,372,021 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Pdlim3
|
UTSW |
8 |
46,362,117 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Z1177:Pdlim3
|
UTSW |
8 |
46,362,116 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Posted On |
2015-12-18 |
Incidental Mutation