Incidental Mutation 'R6395:Pdlim5'
ID 514704
Institutional Source Beutler Lab
Gene Symbol Pdlim5
Ensembl Gene ENSMUSG00000028273
Gene Name PDZ and LIM domain 5
Synonyms Enh, 1110001A05Rik, Enh3, Enh2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6395 (G1)
Quality Score 221.009
Status Not validated
Chromosome 3
Chromosomal Location 141945351-142101457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 142020183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 92 (P92Q)
Ref Sequence ENSEMBL: ENSMUSP00000143343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029941] [ENSMUST00000058626] [ENSMUST00000090134] [ENSMUST00000168967] [ENSMUST00000170361] [ENSMUST00000195975] [ENSMUST00000196220] [ENSMUST00000196908] [ENSMUST00000198381] [ENSMUST00000200043]
AlphaFold Q8CI51
Predicted Effect probably benign
Transcript: ENSMUST00000029941
AA Change: P92Q

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000029941
Gene: ENSMUSG00000028273
AA Change: P92Q

DomainStartEndE-ValueType
PDZ 12 85 5.54e-17 SMART
low complexity region 144 171 N/A INTRINSIC
Pfam:DUF4749 212 305 1.3e-9 PFAM
low complexity region 310 339 N/A INTRINSIC
LIM 414 465 3.17e-17 SMART
LIM 473 524 4.62e-19 SMART
LIM 532 585 1.79e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000058626
AA Change: P92Q

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000059267
Gene: ENSMUSG00000028273
AA Change: P92Q

DomainStartEndE-ValueType
PDZ 12 85 5.54e-17 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000090134
AA Change: P92Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000087595
Gene: ENSMUSG00000028273
AA Change: P92Q

DomainStartEndE-ValueType
PDZ 12 85 5.54e-17 SMART
low complexity region 111 118 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000168967
AA Change: P92Q

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000132647
Gene: ENSMUSG00000028273
AA Change: P92Q

DomainStartEndE-ValueType
PDZ 12 85 5.54e-17 SMART
low complexity region 144 171 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000170361
AA Change: P92Q

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128752
Gene: ENSMUSG00000028273
AA Change: P92Q

DomainStartEndE-ValueType
PDZ 12 85 5.54e-17 SMART
Pfam:DUF4749 101 207 2.7e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000195975
AA Change: P92Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142737
Gene: ENSMUSG00000028273
AA Change: P92Q

DomainStartEndE-ValueType
PDZ 12 85 5.54e-17 SMART
low complexity region 237 246 N/A INTRINSIC
low complexity region 266 283 N/A INTRINSIC
low complexity region 316 331 N/A INTRINSIC
low complexity region 333 362 N/A INTRINSIC
LIM 437 488 3.17e-17 SMART
LIM 496 547 4.62e-19 SMART
LIM 555 608 1.79e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000196220
AA Change: P92Q

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142460
Gene: ENSMUSG00000028273
AA Change: P92Q

DomainStartEndE-ValueType
PDZ 12 85 5.54e-17 SMART
low complexity region 226 243 N/A INTRINSIC
low complexity region 276 291 N/A INTRINSIC
low complexity region 293 322 N/A INTRINSIC
LIM 397 448 3.17e-17 SMART
LIM 456 507 4.62e-19 SMART
LIM 515 568 1.79e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196908
AA Change: P92Q

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000143098
Gene: ENSMUSG00000028273
AA Change: P92Q

DomainStartEndE-ValueType
PDZ 12 85 5.54e-17 SMART
low complexity region 144 171 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000198381
AA Change: P92Q

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142899
Gene: ENSMUSG00000028273
AA Change: P92Q

DomainStartEndE-ValueType
PDZ 12 85 5.54e-17 SMART
low complexity region 201 230 N/A INTRINSIC
LIM 305 356 3.17e-17 SMART
LIM 364 415 4.62e-19 SMART
LIM 423 476 1.79e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000200043
AA Change: P92Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143343
Gene: ENSMUSG00000028273
AA Change: P92Q

DomainStartEndE-ValueType
PDZ 12 85 5.54e-17 SMART
low complexity region 228 243 N/A INTRINSIC
low complexity region 245 274 N/A INTRINSIC
LIM 349 400 3.17e-17 SMART
LIM 408 459 4.62e-19 SMART
LIM 467 520 1.79e-16 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.6%
  • 20x: 98.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired cardiac muscle contractility, wider Z-lines, and dilated cardiomyopathy. Mice heterozygous for a gene trap allele exhibit impaired response to methamphetamine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actc1 C A 2: 113,879,731 (GRCm39) E243* probably null Het
Ahi1 T C 10: 20,855,491 (GRCm39) I600T possibly damaging Het
Apob A G 12: 8,058,507 (GRCm39) T2330A probably benign Het
Cabin1 A T 10: 75,582,576 (GRCm39) M280K probably benign Het
Ccdc117 T C 11: 5,484,762 (GRCm39) probably null Het
Cct8 G T 16: 87,283,364 (GRCm39) Y292* probably null Het
Celf1 A G 2: 90,834,203 (GRCm39) I165V probably benign Het
Cenpc1 A T 5: 86,183,429 (GRCm39) N453K probably benign Het
Chst10 T C 1: 38,910,770 (GRCm39) I131M probably damaging Het
Cltc A G 11: 86,616,006 (GRCm39) I420T probably damaging Het
Cspg4b T G 13: 113,506,003 (GRCm39) C2377W probably damaging Het
Dact3 A C 7: 16,617,086 (GRCm39) Q95P probably damaging Het
Dennd2c T C 3: 103,056,540 (GRCm39) probably null Het
Dock2 G T 11: 34,182,874 (GRCm39) H1586Q probably damaging Het
Dst T C 1: 34,221,771 (GRCm39) M2525T probably benign Het
Egflam T C 15: 7,261,176 (GRCm39) H786R probably damaging Het
Eml6 T C 11: 29,759,321 (GRCm39) T811A probably benign Het
Epha1 T C 6: 42,343,106 (GRCm39) T148A probably damaging Het
Fsip1 A C 2: 118,067,406 (GRCm39) S306A probably damaging Het
Gga2 A T 7: 121,607,661 (GRCm39) probably null Het
Gm10801 C CGTT 2: 98,494,152 (GRCm39) probably benign Het
Gm9837 T A 11: 53,360,885 (GRCm39) probably benign Het
Gnl2 A T 4: 124,940,058 (GRCm39) Q310L probably damaging Het
H2-M1 T C 17: 36,982,701 (GRCm39) D53G probably benign Het
Hmcn2 T A 2: 31,259,269 (GRCm39) D1036E probably damaging Het
Htr3a A T 9: 48,811,871 (GRCm39) D381E probably benign Het
Igdcc4 G A 9: 65,042,400 (GRCm39) G106R probably damaging Het
Igfbp2 A G 1: 72,864,078 (GRCm39) T114A probably damaging Het
Ints14 A G 9: 64,885,406 (GRCm39) probably null Het
Kcnt1 T A 2: 25,799,251 (GRCm39) M906K possibly damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lars2 A G 9: 123,200,990 (GRCm39) Q18R probably benign Het
Mndal C T 1: 173,698,999 (GRCm39) C222Y possibly damaging Het
Msto1 C T 3: 88,812,781 (GRCm39) A1854V possibly damaging Het
Musk G A 4: 58,286,169 (GRCm39) G20R probably benign Het
Or6c215 G T 10: 129,638,013 (GRCm39) P127Q probably damaging Het
Oxct1 G T 15: 4,056,309 (GRCm39) S19I possibly damaging Het
Papss2 G A 19: 32,641,876 (GRCm39) G517D probably damaging Het
Parp14 T C 16: 35,676,918 (GRCm39) S1017G probably benign Het
Pde2a A G 7: 101,150,242 (GRCm39) Q227R probably benign Het
Pkd1l3 C T 8: 110,350,595 (GRCm39) T480I probably benign Het
Pla2g4c C T 7: 13,077,933 (GRCm39) T357I probably benign Het
Ppp3ca A G 3: 136,583,531 (GRCm39) R213G possibly damaging Het
Pramel18 G A 4: 101,767,189 (GRCm39) R146H probably benign Het
Prrc1 C T 18: 57,495,619 (GRCm39) S32L probably null Het
Prss47 C T 13: 65,197,116 (GRCm39) V207I probably benign Het
Prtg G A 9: 72,819,414 (GRCm39) V1136I possibly damaging Het
Psmb8 T A 17: 34,418,265 (GRCm39) M69K possibly damaging Het
Rb1 A T 14: 73,436,636 (GRCm39) D876E probably damaging Het
Rnasel T C 1: 153,637,867 (GRCm39) M680T probably damaging Het
Rnf111 G T 9: 70,383,692 (GRCm39) N80K possibly damaging Het
Senp1 C T 15: 97,946,074 (GRCm39) C557Y probably damaging Het
Serpina3a A T 12: 104,082,710 (GRCm39) Y161F probably damaging Het
Serpinb11 A T 1: 107,299,781 (GRCm39) probably null Het
Sgpl1 C A 10: 60,947,936 (GRCm39) probably null Het
Slc37a4 A G 9: 44,310,576 (GRCm39) Y60C probably damaging Het
Slc38a10 A G 11: 120,015,208 (GRCm39) S381P probably benign Het
Slc5a7 C T 17: 54,585,849 (GRCm39) V323I probably damaging Het
Slco1a7 T A 6: 141,668,818 (GRCm39) probably null Het
Smarcal1 A T 1: 72,655,716 (GRCm39) E665V possibly damaging Het
Specc1 C A 11: 62,023,164 (GRCm39) N736K probably damaging Het
Tas2r121 T C 6: 132,677,495 (GRCm39) Y159C probably benign Het
Tex54 A G 19: 8,718,462 (GRCm39) D68G probably benign Het
Trank1 A G 9: 111,196,268 (GRCm39) I1431V probably damaging Het
Ttll6 T C 11: 96,047,414 (GRCm39) V671A probably benign Het
Ttn A T 2: 76,748,931 (GRCm39) probably benign Het
Uimc1 T C 13: 55,188,389 (GRCm39) T557A possibly damaging Het
Uri1 C A 7: 37,661,974 (GRCm39) V446L probably benign Het
Vpreb1b C T 16: 17,798,771 (GRCm39) R86C probably damaging Het
Vwa8 A G 14: 79,331,184 (GRCm39) K1231E probably benign Het
Xcr1 G A 9: 123,684,854 (GRCm39) R303C probably damaging Het
Zfp619 C A 7: 39,186,454 (GRCm39) A828E possibly damaging Het
Zfp687 T C 3: 94,915,049 (GRCm39) S1151G possibly damaging Het
Other mutations in Pdlim5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02673:Pdlim5 APN 3 142,058,548 (GRCm39) missense probably damaging 1.00
R1868:Pdlim5 UTSW 3 142,012,060 (GRCm39) critical splice acceptor site probably null
R1937:Pdlim5 UTSW 3 141,950,742 (GRCm39) missense possibly damaging 0.46
R3000:Pdlim5 UTSW 3 142,017,892 (GRCm39) missense probably damaging 1.00
R4477:Pdlim5 UTSW 3 141,964,978 (GRCm39) missense probably benign 0.09
R4959:Pdlim5 UTSW 3 142,017,740 (GRCm39) intron probably benign
R4973:Pdlim5 UTSW 3 142,017,740 (GRCm39) intron probably benign
R5135:Pdlim5 UTSW 3 142,010,126 (GRCm39) missense probably benign 0.34
R5393:Pdlim5 UTSW 3 141,964,947 (GRCm39) missense probably damaging 1.00
R5445:Pdlim5 UTSW 3 142,058,495 (GRCm39) missense probably null 1.00
R5707:Pdlim5 UTSW 3 142,010,060 (GRCm39) missense probably damaging 1.00
R6154:Pdlim5 UTSW 3 141,983,674 (GRCm39) missense possibly damaging 0.68
R6269:Pdlim5 UTSW 3 142,018,086 (GRCm39) missense possibly damaging 0.57
R6600:Pdlim5 UTSW 3 141,965,039 (GRCm39) missense probably damaging 1.00
R6911:Pdlim5 UTSW 3 142,010,076 (GRCm39) missense probably damaging 0.98
R7135:Pdlim5 UTSW 3 142,017,683 (GRCm39) splice site probably null
R7283:Pdlim5 UTSW 3 142,017,741 (GRCm39) critical splice acceptor site probably null
R7334:Pdlim5 UTSW 3 141,950,678 (GRCm39) missense probably damaging 1.00
R7660:Pdlim5 UTSW 3 141,964,946 (GRCm39) missense probably damaging 1.00
R7687:Pdlim5 UTSW 3 141,983,608 (GRCm39) missense probably benign 0.02
R7696:Pdlim5 UTSW 3 141,983,623 (GRCm39) missense probably benign 0.08
R7779:Pdlim5 UTSW 3 141,948,447 (GRCm39) missense probably benign 0.27
R7904:Pdlim5 UTSW 3 142,018,154 (GRCm39) missense probably damaging 1.00
R8171:Pdlim5 UTSW 3 142,017,948 (GRCm39) missense probably benign
R8913:Pdlim5 UTSW 3 141,950,666 (GRCm39) missense probably damaging 1.00
R9082:Pdlim5 UTSW 3 142,009,163 (GRCm39) missense possibly damaging 0.52
R9087:Pdlim5 UTSW 3 142,058,594 (GRCm39) missense possibly damaging 0.92
R9103:Pdlim5 UTSW 3 142,010,174 (GRCm39) missense possibly damaging 0.80
R9320:Pdlim5 UTSW 3 141,953,109 (GRCm39) missense probably damaging 1.00
R9515:Pdlim5 UTSW 3 142,010,111 (GRCm39) missense probably damaging 1.00
R9664:Pdlim5 UTSW 3 142,018,058 (GRCm39) missense probably benign 0.01
R9711:Pdlim5 UTSW 3 141,948,529 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTTTGTAAGTTCTGGTTTCTACTTC -3'
(R):5'- AACGCTGACTTCTAATTACATGAG -3'

Sequencing Primer
(F):5'- CCCTCTTTGTTTCTTATGGGAAAG -3'
(R):5'- GCATTCCAGAGGTAGGATCTC -3'
Posted On 2018-05-04