Incidental Mutation 'IGL02189:Pdlim3'
ID 283803
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) question?
Stock # IGL02189
Quality Score
Status
Chromosome 8
Chromosomal Location 46338498-46372585 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46338630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 5 (V5A)
Ref Sequence ENSEMBL: ENSMUSP00000148113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034053] [ENSMUST00000210422]
AlphaFold O70209
Predicted Effect probably damaging
Transcript: ENSMUST00000034053
AA Change: V5A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034053
Gene: ENSMUSG00000031636
AA Change: V5A

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: V5A

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A T 11: 48,838,248 (GRCm39) Y780N probably benign Het
Aadacl2 T C 3: 59,932,609 (GRCm39) S375P probably damaging Het
Abi1 A C 2: 22,930,076 (GRCm39) M1R probably null Het
Acss1 T C 2: 150,471,788 (GRCm39) D322G probably damaging Het
Adam22 G A 5: 8,380,029 (GRCm39) R90W possibly damaging Het
Agtpbp1 T C 13: 59,648,275 (GRCm39) H515R probably benign Het
C3 T C 17: 57,527,113 (GRCm39) K779E probably benign Het
Cfhr2 A G 1: 139,749,497 (GRCm39) Y162H probably damaging Het
Chchd5 T C 2: 128,975,188 (GRCm39) probably benign Het
Csmd1 T A 8: 16,321,620 (GRCm39) I493F probably damaging Het
Daam1 A T 12: 71,993,059 (GRCm39) R349S unknown Het
Dnah11 T C 12: 118,046,314 (GRCm39) E1708G probably benign Het
Epg5 A G 18: 78,056,085 (GRCm39) D1753G probably damaging Het
Flt4 T G 11: 49,516,830 (GRCm39) C206G probably damaging Het
Fscn1 G T 5: 142,946,375 (GRCm39) A58S possibly damaging Het
Gapvd1 A T 2: 34,618,556 (GRCm39) N272K probably damaging Het
Gem T A 4: 11,706,121 (GRCm39) S70T possibly damaging Het
H2-K2 A G 17: 34,218,466 (GRCm39) L150P probably damaging Het
Hsd3b3 T A 3: 98,649,454 (GRCm39) I290L probably benign Het
Iws1 A G 18: 32,226,178 (GRCm39) R689G probably damaging Het
Klk1b22 A G 7: 43,765,630 (GRCm39) probably null Het
Klra4 T A 6: 130,021,105 (GRCm39) D230V possibly damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Liat1 A G 11: 75,891,056 (GRCm39) K57E probably damaging Het
Lilra5 A T 7: 4,240,968 (GRCm39) M21L probably benign Het
Lrrc20 T A 10: 61,362,887 (GRCm39) V44D possibly damaging Het
Mtx1 T G 3: 89,116,624 (GRCm39) M426L probably damaging Het
Mylk2 C T 2: 152,757,074 (GRCm39) P283L probably damaging Het
Mynn T A 3: 30,667,693 (GRCm39) probably benign Het
Odr4 G T 1: 150,247,784 (GRCm39) N356K possibly damaging Het
Or4c1 A C 2: 89,133,641 (GRCm39) C98W probably damaging Het
Parl T A 16: 20,116,453 (GRCm39) I116F probably damaging Het
Pld1 G A 3: 28,174,932 (GRCm39) V857I probably benign Het
Ptprf T A 4: 118,070,839 (GRCm39) probably benign Het
Ptprn A G 1: 75,235,139 (GRCm39) S170P possibly damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Rps27a C A 11: 29,496,772 (GRCm39) Q40H probably damaging Het
Ryr3 A T 2: 112,585,183 (GRCm39) probably benign Het
Scube3 G T 17: 28,381,970 (GRCm39) C332F probably benign Het
Sh3glb2 T C 2: 30,235,351 (GRCm39) probably null Het
Sh3tc2 A G 18: 62,123,693 (GRCm39) E818G probably benign Het
Slc16a3 G A 11: 120,847,597 (GRCm39) V262I probably benign Het
Sptbn1 T A 11: 30,067,871 (GRCm39) D1781V probably damaging Het
Ssr1 C T 13: 38,171,492 (GRCm39) probably null Het
Tep1 A G 14: 51,064,283 (GRCm39) L2442S probably benign Het
Tonsl A T 15: 76,507,378 (GRCm39) V94D possibly damaging Het
Ttc22 A T 4: 106,496,354 (GRCm39) H468L probably benign Het
Ttc27 C T 17: 75,036,894 (GRCm39) T189M probably damaging Het
Ttn T C 2: 76,720,500 (GRCm39) probably benign Het
Ttn T G 2: 76,590,239 (GRCm39) I21157L probably damaging Het
Vav3 T A 3: 109,433,276 (GRCm39) probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Pdlim3
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL02834:Pdlim3 APN 8 46,370,569 (GRCm39) missense probably benign 0.02
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 2015-04-16