Incidental Mutation 'IGL00767:Pdlim3'
ID12967
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdlim3
Ensembl Gene ENSMUSG00000031636
Gene NamePDZ and LIM domain 3
SynonymsALP
Accession Numbers
Genbank: NM_016798; MGI: 1859274 
Is this an essential gene? Possibly essential (E-score: 0.586) question?
Stock #IGL00767
Quality Score
Status
Chromosome8
Chromosomal Location45885461-45919548 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 45896790 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 46 (G46R)
Ref Sequence ENSEMBL: ENSMUSP00000148113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034053] [ENSMUST00000210422]
Predicted Effect probably damaging
Transcript: ENSMUST00000034053
AA Change: G46R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034053
Gene: ENSMUSG00000031636
AA Change: G46R

DomainStartEndE-ValueType
PDZ 11 84 3.86e-16 SMART
ZM 137 162 5.55e-11 SMART
LIM 245 296 3.73e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000210422
AA Change: G46R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211190
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik T C 6: 149,334,750 probably benign Het
Anpep A C 7: 79,840,890 S293A probably benign Het
Dgkh T A 14: 78,587,261 probably benign Het
Dlg5 T A 14: 24,165,285 T657S probably damaging Het
Hpf1 A G 8: 60,896,802 I155V probably benign Het
Il12rb2 T C 6: 67,303,562 I554V possibly damaging Het
Mindy2 A G 9: 70,634,003 probably null Het
Nostrin A G 2: 69,175,775 T268A probably benign Het
Npy6r A G 18: 44,276,318 T269A probably benign Het
Nt5dc3 T A 10: 86,820,273 probably benign Het
Osgin2 G A 4: 16,006,377 H106Y probably damaging Het
Pdpk1 T G 17: 24,106,861 K147N possibly damaging Het
Pfkfb3 T C 2: 11,488,754 D137G probably damaging Het
Polg G A 7: 79,451,925 P1048S probably damaging Het
Ptcd3 A T 6: 71,903,448 I97K probably damaging Het
Serpinb10 G T 1: 107,536,077 V30F possibly damaging Het
Stk17b A G 1: 53,764,023 probably benign Het
Tll1 G A 8: 64,071,321 R444C probably damaging Het
Ttbk2 A G 2: 120,745,745 V848A probably benign Het
Ttn T C 2: 76,885,673 probably benign Het
Other mutations in Pdlim3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01341:Pdlim3 APN 8 45915240 missense probably benign
IGL02189:Pdlim3 APN 8 45885593 missense probably damaging 1.00
IGL02834:Pdlim3 APN 8 45917532 missense probably benign 0.02
IGL03165:Pdlim3 APN 8 45918998 missense possibly damaging 0.82
C9142:Pdlim3 UTSW 8 45896832 missense probably benign 0.37
R0244:Pdlim3 UTSW 8 45908460 intron probably benign
R0369:Pdlim3 UTSW 8 45917506 missense probably benign
R1052:Pdlim3 UTSW 8 45896800 missense probably damaging 1.00
R1142:Pdlim3 UTSW 8 45918961 missense probably damaging 1.00
R1531:Pdlim3 UTSW 8 45896763 missense probably damaging 1.00
R1607:Pdlim3 UTSW 8 45896859 missense probably damaging 1.00
R1645:Pdlim3 UTSW 8 45896748 missense probably benign 0.37
R5641:Pdlim3 UTSW 8 45915263 splice site probably null
R5731:Pdlim3 UTSW 8 45915247 missense probably benign
R6501:Pdlim3 UTSW 8 45908602 missense possibly damaging 0.95
R7111:Pdlim3 UTSW 8 45917502 missense probably damaging 0.99
R7637:Pdlim3 UTSW 8 45909065 missense probably damaging 1.00
R7701:Pdlim3 UTSW 8 45908539 missense probably benign 0.17
R8223:Pdlim3 UTSW 8 45900525 missense possibly damaging 0.80
R8380:Pdlim3 UTSW 8 45917535 missense probably benign
Z1177:Pdlim3 UTSW 8 45909079 missense possibly damaging 0.63
Z1177:Pdlim3 UTSW 8 45909080 missense possibly damaging 0.77
Z1177:Pdlim3 UTSW 8 45918984 nonsense probably null
Posted On2012-12-06