Incidental Mutation 'R5135:Pdlim5'
ID 396109
Institutional Source Beutler Lab
Gene Symbol Pdlim5
Ensembl Gene ENSMUSG00000028273
Gene Name PDZ and LIM domain 5
Synonyms Enh, 1110001A05Rik, Enh3, Enh2
MMRRC Submission 043261-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5135 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 141945351-142101457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 142010126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 174 (R174H)
Ref Sequence ENSEMBL: ENSMUSP00000059267 (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: R272H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029941
Gene: ENSMUSG00000028273
AA Change: R272H

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: R174H

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000059267
Gene: ENSMUSG00000028273
AA Change: R174H

DomainStartEndE-ValueType
PDZ 12 85 5.54e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090134
AA Change: R149H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000087595
Gene: ENSMUSG00000028273
AA Change: R149H

DomainStartEndE-ValueType
PDZ 12 85 5.54e-17 SMART
low complexity region 111 118 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168967
AA Change: R169H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132647
Gene: ENSMUSG00000028273
AA Change: R169H

DomainStartEndE-ValueType
PDZ 12 85 5.54e-17 SMART
low complexity region 144 171 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170361
AA Change: R174H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128752
Gene: ENSMUSG00000028273
AA Change: R174H

DomainStartEndE-ValueType
PDZ 12 85 5.54e-17 SMART
Pfam:DUF4749 101 207 2.7e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195975
AA Change: R163H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000142737
Gene: ENSMUSG00000028273
AA Change: R163H

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 probably benign
Transcript: ENSMUST00000196220
AA Change: R163H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000142460
Gene: ENSMUSG00000028273
AA Change: R163H

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: R272H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143098
Gene: ENSMUSG00000028273
AA Change: R272H

DomainStartEndE-ValueType
PDZ 12 85 5.54e-17 SMART
low complexity region 144 171 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198381
AA Change: R163H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142899
Gene: ENSMUSG00000028273
AA Change: R163H

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 benign
Transcript: ENSMUST00000200043
AA Change: R163H

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000143343
Gene: ENSMUSG00000028273
AA Change: R163H

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
Predicted Effect unknown
Transcript: ENSMUST00000197808
AA Change: R26H
Predicted Effect probably benign
Transcript: ENSMUST00000200650
Meta Mutation Damage Score 0.0607 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (82/84)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik T C 1: 183,765,703 (GRCm39) S119G probably benign Het
4930553M12Rik G T 4: 88,786,508 (GRCm39) H37N unknown Het
Adam10 T A 9: 70,673,356 (GRCm39) C496S probably damaging Het
Aldh18a1 A C 19: 40,543,261 (GRCm39) probably benign Het
Alox5 A G 6: 116,390,747 (GRCm39) F468S probably benign Het
Ankrd50 T C 3: 38,509,952 (GRCm39) H805R probably damaging Het
Ap2s1 T A 7: 16,481,248 (GRCm39) D72E probably damaging Het
Apaf1 T C 10: 90,895,956 (GRCm39) Y372C probably damaging Het
Apob C T 12: 8,060,086 (GRCm39) T2823I probably damaging Het
Bhmt A G 13: 93,763,831 (GRCm39) V70A probably damaging Het
Bltp3b T C 10: 89,625,217 (GRCm39) I48T probably damaging Het
Cdc42bpg T A 19: 6,370,648 (GRCm39) L1247H probably damaging Het
Cel A G 2: 28,449,435 (GRCm39) V264A probably benign Het
Celsr2 T C 3: 108,305,975 (GRCm39) N2043S probably damaging Het
Clca4a A T 3: 144,660,707 (GRCm39) W706R probably damaging Het
Col22a1 G T 15: 71,671,186 (GRCm39) P1058Q unknown Het
Cyp4a14 A G 4: 115,347,157 (GRCm39) probably null Het
Dhx30 T G 9: 109,927,863 (GRCm39) R55S probably damaging Het
Dlgap5 C T 14: 47,637,122 (GRCm39) R452H probably damaging Het
Dnah12 T A 14: 26,492,434 (GRCm39) D1191E probably damaging Het
Dock3 A T 9: 106,810,196 (GRCm39) I164N probably damaging Het
Edrf1 T A 7: 133,252,773 (GRCm39) M436K probably benign Het
Eif2ak2 T A 17: 79,173,774 (GRCm39) Y268F probably damaging Het
Evi2a G A 11: 79,418,277 (GRCm39) T111M possibly damaging Het
Fzd4 A G 7: 89,056,709 (GRCm39) E252G probably damaging Het
Gcm2 A G 13: 41,256,435 (GRCm39) V438A probably benign Het
Gm10722 T C 9: 3,000,937 (GRCm39) C6R probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm4846 T C 1: 166,311,551 (GRCm39) D436G probably damaging Het
Gm5414 T A 15: 101,536,203 (GRCm39) I141F probably damaging Het
Gm6185 T A 1: 161,025,801 (GRCm39) noncoding transcript Het
Grip2 T C 6: 91,750,897 (GRCm39) E776G possibly damaging Het
H2-Ob T A 17: 34,462,490 (GRCm39) V160E probably benign Het
Hormad1 T C 3: 95,492,531 (GRCm39) probably benign Het
Ighv2-1 A T 12: 113,538,082 (GRCm39) probably benign Het
Igkv4-92 A T 6: 68,732,538 (GRCm39) C14S probably benign Het
Iqsec3 T C 6: 121,360,878 (GRCm39) I993M probably damaging Het
Kdm5b T A 1: 134,516,484 (GRCm39) probably benign Het
Kitl T C 10: 99,924,084 (GRCm39) probably null Het
Klhl26 G T 8: 70,905,368 (GRCm39) R100S probably benign Het
Kpna4 C T 3: 69,000,142 (GRCm39) probably null Het
Lama5 T A 2: 179,844,013 (GRCm39) N383Y possibly damaging Het
Large1 T G 8: 73,544,724 (GRCm39) I685L probably benign Het
Larp4b A G 13: 9,220,773 (GRCm39) E590G probably damaging Het
Liph A T 16: 21,774,915 (GRCm39) C425* probably null Het
Lrrc31 A T 3: 30,739,039 (GRCm39) C327* probably null Het
Lrrc36 T C 8: 106,190,530 (GRCm39) V733A probably benign Het
Mmel1 T A 4: 154,966,781 (GRCm39) I83K probably benign Het
Myo16 G T 8: 10,526,114 (GRCm39) V885L probably benign Het
Naip2 A T 13: 100,315,948 (GRCm39) N277K probably damaging Het
Ncapg2 T A 12: 116,391,406 (GRCm39) I485N possibly damaging Het
Npc1l1 A T 11: 6,174,245 (GRCm39) Y687N possibly damaging Het
Obscn A T 11: 59,020,479 (GRCm39) V922E probably damaging Het
Oc90 A G 15: 65,755,679 (GRCm39) S223P probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or4a80 A T 2: 89,582,239 (GRCm39) L311H possibly damaging Het
Or4e1 T C 14: 52,701,311 (GRCm39) I52V probably benign Het
Pakap G T 4: 57,855,912 (GRCm39) A414S probably benign Het
Pex5l G T 3: 33,009,980 (GRCm39) A386E probably damaging Het
Plcxd1 T A 5: 110,249,229 (GRCm39) probably benign Het
Pramel12 T G 4: 143,145,579 (GRCm39) S349R probably benign Het
Prl8a1 A T 13: 27,763,802 (GRCm39) probably null Het
Ryr2 G T 13: 11,677,016 (GRCm39) N3278K probably benign Het
Sacm1l A G 9: 123,406,090 (GRCm39) M324V probably benign Het
Sdad1 T C 5: 92,451,793 (GRCm39) T143A probably benign Het
Sec11a A T 7: 80,572,812 (GRCm39) probably benign Het
Sema6a A G 18: 47,424,239 (GRCm39) V223A probably damaging Het
Serpinb6c A G 13: 34,064,080 (GRCm39) V325A probably damaging Het
Slc4a2 G A 5: 24,635,125 (GRCm39) A177T possibly damaging Het
Slc5a4a A G 10: 75,983,428 (GRCm39) N22D unknown Het
Stard13 C T 5: 150,986,232 (GRCm39) W308* probably null Het
Tanc2 C T 11: 105,748,379 (GRCm39) L504F possibly damaging Het
Tfap2e G T 4: 126,614,337 (GRCm39) N282K probably damaging Het
Usp36 G T 11: 118,155,731 (GRCm39) T682K possibly damaging Het
Zc3h11a T C 1: 133,561,527 (GRCm39) T315A probably benign Het
Zfa-ps T A 10: 52,419,118 (GRCm39) noncoding transcript Het
Zfp1002 A T 2: 150,097,410 (GRCm39) Y34* probably null Het
Zfp663 A T 2: 165,195,590 (GRCm39) C210S possibly damaging Het
Zfp747 T C 7: 126,973,566 (GRCm39) I201M probably damaging Het
Zic4 C T 9: 91,266,205 (GRCm39) T276M probably 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
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
R6395:Pdlim5 UTSW 3 142,020,183 (GRCm39) missense probably damaging 1.00
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'- TTTCAGTGCGATTCCCTGGAC -3'
(R):5'- ACCCTTTAGCACAGTTTACTCTAAC -3'

Sequencing Primer
(F):5'- GGACTGGAATCTTCTTTTGTACAAC -3'
(R):5'- GCACAGTTTACTCTAACCTATACATG -3'
Posted On 2016-06-21