Incidental Mutation 'R5866:Pdlim7'
ID 454190
Institutional Source Beutler Lab
Gene Symbol Pdlim7
Ensembl Gene ENSMUSG00000021493
Gene Name PDZ and LIM domain 7
Synonyms 2410002J21Rik, 1110003B01Rik, Enigma
MMRRC Submission 044075-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.876) question?
Stock # R5866 (G1)
Quality Score 214
Status Validated
Chromosome 13
Chromosomal Location 55645300-55661281 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55646501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 445 (D445V)
Ref Sequence ENSEMBL: ENSMUSP00000120465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046246] [ENSMUST00000155098]
AlphaFold Q3TJD7
Predicted Effect probably damaging
Transcript: ENSMUST00000046246
AA Change: D445V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047173
Gene: ENSMUSG00000021493
AA Change: D445V

DomainStartEndE-ValueType
PDZ 12 85 3.74e-14 SMART
low complexity region 209 223 N/A INTRINSIC
low complexity region 264 273 N/A INTRINSIC
LIM 281 332 3.69e-18 SMART
LIM 340 391 8.29e-21 SMART
LIM 399 452 2.47e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153230
Predicted Effect probably damaging
Transcript: ENSMUST00000155098
AA Change: D445V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120465
Gene: ENSMUSG00000021493
AA Change: D445V

DomainStartEndE-ValueType
PDZ 12 85 3.74e-14 SMART
low complexity region 209 223 N/A INTRINSIC
low complexity region 264 273 N/A INTRINSIC
LIM 281 332 3.69e-18 SMART
LIM 340 391 8.29e-21 SMART
LIM 399 452 2.47e-19 SMART
Meta Mutation Damage Score 0.8344 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.2%
  • 20x: 90.7%
Validation Efficiency 91% (51/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is representative of a family of proteins composed of conserved PDZ and LIM domains. LIM domains are proposed to function in protein-protein recognition in a variety of contexts including gene transcription and development and in cytoskeletal interaction. The LIM domains of this protein bind to protein kinases, whereas the PDZ domain binds to actin filaments. The gene product is involved in the assembly of an actin filament-associated complex essential for transmission of ret/ptc2 mitogenic signaling. The biological function is likely to be that of an adapter, with the PDZ domain localizing the LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit heart defects and hemostatic dysfunction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik A G 1: 120,096,814 (GRCm39) probably benign Het
A530084C06Rik G A 13: 31,743,178 (GRCm39) A25V unknown Het
A730018C14Rik T C 12: 112,381,472 (GRCm39) noncoding transcript Het
Aasdh G T 5: 77,024,058 (GRCm39) A198E probably damaging Het
Abcb8 C T 5: 24,607,101 (GRCm39) A328V probably damaging Het
Ace3 C A 11: 105,888,330 (GRCm39) H347N probably damaging Het
Amy1 A T 3: 113,355,569 (GRCm39) M302K possibly damaging Het
Apol11b C T 15: 77,524,747 (GRCm39) V13M probably null Het
Arfgef2 T A 2: 166,678,177 (GRCm39) V131E possibly damaging Het
Arnt T A 3: 95,398,037 (GRCm39) probably benign Het
Atl1 T C 12: 69,972,785 (GRCm39) V35A probably damaging Het
BC061237 A T 14: 44,738,730 (GRCm39) D43V possibly damaging Het
Cracd A G 5: 77,005,384 (GRCm39) T582A unknown Het
Cyp4f17 T C 17: 32,725,887 (GRCm39) S7P probably benign Het
Ddx60 A G 8: 62,393,774 (GRCm39) Y70C probably damaging Het
Defb34 T C 8: 19,176,468 (GRCm39) L53P probably damaging Het
Dennd5a T C 7: 109,518,567 (GRCm39) T525A probably benign Het
Ephb3 T C 16: 21,030,129 (GRCm39) probably benign Het
Fam83d T A 2: 158,621,750 (GRCm39) probably null Het
Gramd2b A G 18: 56,607,108 (GRCm39) D74G possibly damaging Het
Hax1 A G 3: 89,903,035 (GRCm39) probably benign Het
Kcnh8 T C 17: 53,263,804 (GRCm39) I767T probably benign Het
Ldah G A 12: 8,270,614 (GRCm39) V5I possibly damaging Het
Nbeal2 A G 9: 110,460,560 (GRCm39) V1758A probably damaging Het
Nos1 A G 5: 118,033,967 (GRCm39) D363G probably damaging Het
Or14j6 C T 17: 38,214,700 (GRCm39) R88* probably null Het
Phip T A 9: 82,772,203 (GRCm39) M1115L probably benign Het
Pigb C T 9: 72,936,966 (GRCm39) A215T probably damaging Het
Pkd1 A T 17: 24,799,935 (GRCm39) S2952C probably damaging Het
Plxnb2 T C 15: 89,051,775 (GRCm39) D148G probably damaging Het
Ppp1r36 T C 12: 76,473,579 (GRCm39) F70S possibly damaging Het
Rad52 G A 6: 119,889,907 (GRCm39) probably benign Het
Rasa2 T A 9: 96,427,823 (GRCm39) T681S probably benign Het
Rel A T 11: 23,692,724 (GRCm39) Y436* probably null Het
Sec16a G A 2: 26,309,650 (GRCm39) P2119S probably benign Het
Sema6d C A 2: 124,506,262 (GRCm39) T733K probably benign Het
Sf3b3 C T 8: 111,541,266 (GRCm39) A950T probably benign Het
Slc24a5 T A 2: 124,927,591 (GRCm39) F297I probably damaging Het
Spp2 A T 1: 88,340,025 (GRCm39) D122V possibly damaging Het
Stap1 A G 5: 86,225,906 (GRCm39) K60R probably benign Het
Stat1 A G 1: 52,178,423 (GRCm39) K286E probably damaging Het
Stn1 T C 19: 47,505,568 (GRCm39) T129A probably benign Het
Tagap C T 17: 8,152,285 (GRCm39) T490I probably damaging Het
Tbc1d2 T C 4: 46,637,715 (GRCm39) E177G possibly damaging Het
Tln2 A T 9: 67,174,150 (GRCm39) L841Q probably damaging Het
Tmem59 T A 4: 107,047,754 (GRCm39) M71K probably damaging Het
Ugt2a3 G A 5: 87,484,406 (GRCm39) T206I probably damaging Het
Utp20 G A 10: 88,608,421 (GRCm39) H1539Y possibly damaging Het
Vps13a T C 19: 16,657,387 (GRCm39) N1794S probably benign Het
Vsig10 A T 5: 117,490,814 (GRCm39) probably null Het
Zfp97 T A 17: 17,365,087 (GRCm39) F195L possibly damaging Het
Other mutations in Pdlim7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0737:Pdlim7 UTSW 13 55,652,693 (GRCm39) splice site probably null
R1518:Pdlim7 UTSW 13 55,656,107 (GRCm39) nonsense probably null
R1857:Pdlim7 UTSW 13 55,653,858 (GRCm39) missense probably damaging 1.00
R1886:Pdlim7 UTSW 13 55,653,981 (GRCm39) missense probably benign 0.34
R1887:Pdlim7 UTSW 13 55,653,981 (GRCm39) missense probably benign 0.34
R5139:Pdlim7 UTSW 13 55,654,869 (GRCm39) missense probably damaging 1.00
R5367:Pdlim7 UTSW 13 55,653,975 (GRCm39) missense probably benign 0.01
R5922:Pdlim7 UTSW 13 55,656,768 (GRCm39) missense probably damaging 1.00
R6328:Pdlim7 UTSW 13 55,655,905 (GRCm39) intron probably benign
R6787:Pdlim7 UTSW 13 55,656,810 (GRCm39) missense probably damaging 1.00
R6980:Pdlim7 UTSW 13 55,656,041 (GRCm39) missense probably benign 0.35
R7690:Pdlim7 UTSW 13 55,656,744 (GRCm39) missense probably damaging 1.00
R7911:Pdlim7 UTSW 13 55,646,919 (GRCm39) missense probably damaging 1.00
R9091:Pdlim7 UTSW 13 55,655,354 (GRCm39) missense probably damaging 0.99
R9270:Pdlim7 UTSW 13 55,655,354 (GRCm39) missense probably damaging 0.99
X0010:Pdlim7 UTSW 13 55,656,797 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- CACCAGTGAGTGAGTGATGGTG -3'
(R):5'- TGTTTGCGCAGTAAGCACC -3'

Sequencing Primer
(F):5'- TGTGGGAACGGGGACTG -3'
(R):5'- GCAGTAAGCACCTCCCTC -3'
Posted On 2017-02-10