Incidental Mutation 'R1645:Pdlim3'
ID 173821
Institutional Source Beutler Lab
Gene Symbol Pdlim3
Ensembl Gene ENSMUSG00000031636
Gene Name PDZ and LIM domain 3
Synonyms ALP
MMRRC Submission 039681-MU
Accession Numbers 
Genbank: NM_016798; MGI: 1859274
Essential gene? Possibly essential (E-score: 0.703) question?
Stock # R1645 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 45885461-45919548 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45896748 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 32 (I32V)
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: I32V

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034053
Gene: ENSMUSG00000031636
AA Change: I32V

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 benign
Transcript: ENSMUST00000210422
AA Change: I32V

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211190
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 89.2%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 122,155,277 M1732V probably benign Het
Acvr1 A T 2: 58,462,899 C350S probably damaging Het
Adgrl2 A T 3: 148,865,608 V130D probably damaging Het
Anapc1 A G 2: 128,658,246 probably null Het
Asap1 A T 15: 64,089,475 V1116E probably damaging Het
Bcas1 T A 2: 170,387,167 D308V probably damaging Het
Brca1 G A 11: 101,510,053 H1468Y probably benign Het
C2cd5 A G 6: 143,050,126 C421R probably damaging Het
C4b A G 17: 34,740,597 S363P probably damaging Het
Camk2b A T 11: 5,972,719 C484S probably damaging Het
Ccny T C 18: 9,345,199 T192A probably damaging Het
Chl1 G T 6: 103,683,180 A356S probably benign Het
Dst T A 1: 34,225,722 Y4850N probably damaging Het
Dyrk4 C A 6: 126,894,793 E171* probably null Het
Ephb1 A G 9: 101,927,559 Y928H probably damaging Het
Fam114a2 A T 11: 57,499,795 N304K probably benign Het
Fam189b C A 3: 89,186,847 D322E possibly damaging Het
Fras1 A T 5: 96,700,586 D1820V possibly damaging Het
Gabbr2 A T 4: 46,664,963 probably null Het
Gm6358 T C 16: 89,141,079 W69R unknown Het
Ikbkb C A 8: 22,691,066 S127I probably damaging Het
Impa1 A T 3: 10,328,441 M48K possibly damaging Het
Klra2 A T 6: 131,243,894 probably null Het
Lama1 A T 17: 67,737,682 Y192F probably benign Het
Lama2 T A 10: 27,368,985 T267S probably damaging Het
Mroh7 G A 4: 106,720,668 T271I probably benign Het
Myo9b A G 8: 71,322,978 E348G probably damaging Het
Nrp2 C T 1: 62,785,124 P796L probably damaging Het
Ntn4 C T 10: 93,707,353 R314W probably damaging Het
Olfr120 A T 17: 37,726,338 T114S probably benign Het
Olfr640 A G 7: 104,022,003 F105S probably damaging Het
Olfr827 T A 10: 130,210,212 D306V probably damaging Het
P3h2 T A 16: 25,997,232 H177L probably damaging Het
Pcdhb16 T C 18: 37,479,370 I461T probably benign Het
Pigu A C 2: 155,328,678 Y143* probably null Het
Prkd3 A C 17: 78,956,520 probably null Het
Psrc1 C T 3: 108,385,238 R116W probably damaging Het
Rab5b A G 10: 128,686,826 S29P possibly damaging Het
Rbm26 A G 14: 105,150,817 V403A probably damaging Het
Rbm47 G T 5: 66,027,138 R41S probably benign Het
Rngtt A G 4: 33,362,939 I364M probably damaging Het
Ryr2 A T 13: 11,718,482 C2271* probably null Het
Shcbp1 T A 8: 4,749,645 Q277L probably benign Het
Sntg1 T C 1: 8,803,931 T5A probably benign Het
Snx24 T C 18: 53,389,562 F163S probably benign Het
Spert C A 14: 75,583,649 R212L probably benign Het
Srp72 T C 5: 76,998,278 V581A probably benign Het
Srrt T A 5: 137,302,139 K59* probably null Het
Tnrc6b A G 15: 80,882,958 T975A probably damaging Het
Vmn1r174 G A 7: 23,754,352 V148I possibly damaging Het
Vmn2r115 T A 17: 23,346,218 C360S possibly damaging Het
Vwa8 A T 14: 79,182,987 Q1709H probably damaging Het
Wdr11 A G 7: 129,613,889 T526A probably benign Het
Zfp532 C A 18: 65,687,264 N973K 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
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
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
R9163:Pdlim3 UTSW 8 45885674 critical splice donor site probably null
R9673:Pdlim3 UTSW 8 45915158 missense possibly damaging 0.52
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'- GTCAAGTACCAAAGTTGCCAAAATG -3'
(R):5'- GGTTCAGGCTCTCCAGAAAAAC -3'
Posted On 2014-04-24