Incidental Mutation 'R1052:Pdlim3'
ID94052
Institutional Source Beutler Lab
Gene Symbol Pdlim3
Ensembl Gene ENSMUSG00000031636
Gene NamePDZ and LIM domain 3
SynonymsALP
MMRRC Submission 039142-MU
Accession Numbers
Genbank: NM_016798; MGI: 1859274 
Is this an essential gene? Possibly essential (E-score: 0.602) question?
Stock #R1052 (G1)
Quality Score225
Status Not validated
Chromosome8
Chromosomal Location45885461-45919548 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 45896800 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 49 (I49N)
Ref Sequence ENSEMBL: ENSMUSP00000034053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034053] [ENSMUST00000210422]
PDB Structure
Solution structure of PDZ domain of mouse Alpha-actinin-2 associated LIM protein [SOLUTION NMR]
Solution structure of the LIM domain of alpha-actinin-2 associated LIM protein [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000034053
AA Change: I49N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034053
Gene: ENSMUSG00000031636
AA Change: I49N

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: I49N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211190
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A T 2: 103,705,072 Y528F possibly damaging Het
Acad10 G A 5: 121,649,541 T115I possibly damaging Het
Adam19 T C 11: 46,127,265 F385L probably damaging Het
Adgb T C 10: 10,442,613 N162D probably benign Het
Arhgap20 C A 9: 51,846,270 P521T probably damaging Het
Arsa A T 15: 89,475,177 L134Q probably damaging Het
Atp5b A G 10: 128,090,052 Y508C probably damaging Het
AW554918 G A 18: 25,420,010 M287I probably benign Het
Bmp4 T C 14: 46,383,903 K395E probably damaging Het
Cacna2d4 A G 6: 119,300,333 Y669C probably damaging Het
Casq2 T C 3: 102,144,234 probably null Het
Cdk5rap1 A T 2: 154,360,599 I237N possibly damaging Het
Cerk G C 15: 86,149,364 S286C possibly damaging Het
Cir1 A C 2: 73,287,643 L186R probably damaging Het
Csf3r A T 4: 126,042,988 probably null Het
Cyp3a41a A T 5: 145,705,811 I246K possibly damaging Het
Cyp8b1 A G 9: 121,915,282 F328S possibly damaging Het
Dzank1 A T 2: 144,513,445 V110D probably benign Het
Gm13089 T C 4: 143,696,907 I437M possibly damaging Het
Gm6729 T A 10: 86,540,935 noncoding transcript Het
Gnpat T C 8: 124,877,507 F246L probably benign Het
Gnpat T A 8: 124,878,516 L248H probably damaging Het
Gstm7 T C 3: 107,926,950 T163A probably benign Het
Hspa5 A G 2: 34,775,098 T424A probably damaging Het
Itgb1 T G 8: 128,713,305 D158E probably damaging Het
Kif21a A G 15: 90,935,650 V1637A probably benign Het
Kl G T 5: 150,982,520 V452F probably damaging Het
Krt23 T C 11: 99,478,219 N416S probably benign Het
Lama4 A T 10: 39,092,245 H1461L possibly damaging Het
Lamc3 A G 2: 31,928,802 T1180A probably benign Het
Mboat2 T C 12: 24,946,528 Y145H probably damaging Het
Mlxipl T A 5: 135,113,710 I126N probably damaging Het
Myo16 T A 8: 10,570,181 N1577K possibly damaging Het
Nlrp4f A G 13: 65,185,083 V87A possibly damaging Het
Olfr1039 A G 2: 86,131,571 F31L probably benign Het
Olfr414 A T 1: 174,431,135 K236* probably null Het
Pask A T 1: 93,330,827 D266E probably benign Het
Pcdhb17 A G 18: 37,486,846 Y563C probably damaging Het
Pla2g4c T A 7: 13,343,409 V292E possibly damaging Het
Prrt4 G T 6: 29,169,814 Q880K possibly damaging Het
Pygb A G 2: 150,786,938 D24G probably benign Het
R3hcc1l T A 19: 42,563,654 D363E probably damaging Het
Rif1 A C 2: 52,111,562 Q1676P probably benign Het
Ryr1 C A 7: 29,096,258 R1069L probably damaging Het
Sdk2 C T 11: 113,838,646 silent Het
Slc2a13 A G 15: 91,412,160 V317A probably damaging Het
Slc35b4 A T 6: 34,161,684 F197I probably damaging Het
Tchhl1 G A 3: 93,470,213 V75I probably benign Het
Ubr4 T C 4: 139,455,460 S3521P possibly damaging Het
Zbtb14 C A 17: 69,388,502 F398L probably damaging Het
Zfp335 GTCCTCCTCCTCCTCCTC GTCCTCCTCCTCCTC 2: 164,907,468 probably benign Het
Zfp874a T G 13: 67,442,420 I382L possibly damaging 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
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
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 PCR Primer
(F):5'- AGTTCAAGTCAAGTACCAAAGTTGCCA -3'
(R):5'- TTTCTCACGAGGCAGAGGAGACCA -3'

Sequencing Primer
(F):5'- CACTGATACAATTGAGCAACTGAG -3'
(R):5'- AGGCAGAGGAGACCAGTTAG -3'
Posted On2014-01-05