Incidental Mutation 'R1142:Pdlim3'
ID102163
Institutional Source Beutler Lab
Gene Symbol Pdlim3
Ensembl Gene ENSMUSG00000031636
Gene NamePDZ and LIM domain 3
SynonymsALP
MMRRC Submission 039215-MU
Accession Numbers
Genbank: NM_016798; MGI: 1859274 
Is this an essential gene? Possibly non essential (E-score: 0.463) question?
Stock #R1142 (G1)
Quality Score210
Status Not validated
Chromosome8
Chromosomal Location45885461-45919548 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 45918961 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 348 (R348S)
Ref Sequence ENSEMBL: ENSMUSP00000148113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034053] [ENSMUST00000210422]
Predicted Effect probably damaging
Transcript: ENSMUST00000034053
AA Change: R300S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034053
Gene: ENSMUSG00000031636
AA Change: R300S

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 noncoding transcript
Transcript: ENSMUST00000209216
Predicted Effect probably damaging
Transcript: ENSMUST00000210422
AA Change: R348S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210432
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
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
Aldh18a1 A G 19: 40,551,213 S773P probably damaging Het
Alx3 T C 3: 107,600,664 F163S possibly damaging Het
Apobr A G 7: 126,587,482 M722V probably benign Het
Col6a5 A G 9: 105,934,317 S668P unknown Het
Cxadr A G 16: 78,334,839 T238A probably benign Het
Dph6 A G 2: 114,647,779 I27T probably damaging Het
Ephx3 G A 17: 32,185,274 H324Y probably benign Het
F830045P16Rik T A 2: 129,460,332 K447* probably null Het
Gjb3 G A 4: 127,326,431 R103W probably damaging Het
Hsp90ab1 C A 17: 45,568,974 E539* probably null Het
Jmjd1c T C 10: 67,225,345 L1159P probably damaging Het
Lamc3 T C 2: 31,940,721 I1490T probably damaging Het
Met T A 6: 17,527,183 C544* probably null Het
Phkg1 A G 5: 129,873,232 F101L possibly damaging Het
Polq A G 16: 37,013,217 M91V probably damaging Het
Slc38a9 T C 13: 112,714,210 I376T probably damaging Het
Tnc C T 4: 64,013,994 V728M probably damaging Het
Vmn1r85 T C 7: 13,084,554 N221S probably benign Het
Vmn2r91 T A 17: 18,136,443 W791R probably damaging Het
Zc3h13 T C 14: 75,315,984 Y284H probably benign Het
Other mutations in Pdlim3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00767:Pdlim3 APN 8 45896790 missense probably damaging 1.00
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
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
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
Predicted Primers
Posted On2014-01-15