Incidental Mutation 'R0737:Pdlim7'
ID 262268
Institutional Source Beutler Lab
Gene Symbol Pdlim7
Ensembl Gene ENSMUSG00000021493
Gene Name PDZ and LIM domain 7
Synonyms 2410002J21Rik, 1110003B01Rik, Enigma
MMRRC Submission 038918-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.876) question?
Stock # R0737 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 55645300-55661281 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 55652693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000047173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046246] [ENSMUST00000069929] [ENSMUST00000069968] [ENSMUST00000131306] [ENSMUST00000155098] [ENSMUST00000144288] [ENSMUST00000153426]
AlphaFold Q3TJD7
Predicted Effect probably null
Transcript: ENSMUST00000046246
SMART Domains Protein: ENSMUSP00000047173
Gene: ENSMUSG00000021493

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 probably benign
Transcript: ENSMUST00000069929
SMART Domains Protein: ENSMUSP00000064219
Gene: ENSMUSG00000021493

DomainStartEndE-ValueType
PDZ 12 85 3.74e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000069968
SMART Domains Protein: ENSMUSP00000070153
Gene: ENSMUSG00000021493

DomainStartEndE-ValueType
PDZ 12 85 3.74e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128911
Predicted Effect probably benign
Transcript: ENSMUST00000131306
SMART Domains Protein: ENSMUSP00000119753
Gene: ENSMUSG00000021493

DomainStartEndE-ValueType
PDZ 12 85 3.74e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136583
Predicted Effect probably benign
Transcript: ENSMUST00000155098
SMART Domains Protein: ENSMUSP00000120465
Gene: ENSMUSG00000021493

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: ENSMUST00000153230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184300
Predicted Effect probably benign
Transcript: ENSMUST00000144288
SMART Domains Protein: ENSMUSP00000121614
Gene: ENSMUSG00000021493

DomainStartEndE-ValueType
PDZ 12 85 3.74e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153426
SMART Domains Protein: ENSMUSP00000118867
Gene: ENSMUSG00000021493

DomainStartEndE-ValueType
Pfam:PDZ 3 58 1.4e-9 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik T A X: 69,437,813 (GRCm39) probably benign Het
Aff4 T A 11: 53,301,780 (GRCm39) L1043* probably null Het
Ankrd11 G T 8: 123,622,575 (GRCm39) R426S probably damaging Het
Atm T A 9: 53,367,866 (GRCm39) N2422I probably damaging Het
Bahcc1 C A 11: 120,163,667 (GRCm39) P655Q probably damaging Het
Baz2a A G 10: 127,951,949 (GRCm39) I556V possibly damaging Het
Ccdc33 T C 9: 57,989,331 (GRCm39) D114G probably damaging Het
Cdk5rap2 T C 4: 70,255,612 (GRCm39) H424R probably benign Het
Cfap57 T C 4: 118,438,299 (GRCm39) E864G possibly damaging Het
Cit T A 5: 116,084,978 (GRCm39) S836R probably damaging Het
Clip4 C T 17: 72,144,694 (GRCm39) Q95* probably null Het
Col17a1 C T 19: 47,657,872 (GRCm39) G433S possibly damaging Het
Col6a3 A G 1: 90,756,020 (GRCm39) F90L probably damaging Het
Cybc1 C T 11: 121,118,068 (GRCm39) probably null Het
Degs1l G A 1: 180,882,944 (GRCm39) M235I probably benign Het
Dnah9 T C 11: 65,998,724 (GRCm39) H1108R probably damaging Het
Elac1 A T 18: 73,872,110 (GRCm39) M295K probably damaging Het
Epas1 G T 17: 87,136,884 (GRCm39) G816C possibly damaging Het
Ermap C A 4: 119,035,707 (GRCm39) C427F probably damaging Het
Fbxo44 T C 4: 148,243,266 (GRCm39) probably benign Het
Fmo4 T A 1: 162,635,961 (GRCm39) K14* probably null Het
Gadl1 G A 9: 115,903,055 (GRCm39) M461I probably damaging Het
Garnl3 T A 2: 32,880,654 (GRCm39) I868F probably damaging Het
Gm7168 A G 17: 14,169,245 (GRCm39) D204G probably damaging Het
Hs6st3 T C 14: 120,106,795 (GRCm39) F401S possibly damaging Het
Kcnmb1 A T 11: 33,914,701 (GRCm39) M1L probably benign Het
Krt35 T C 11: 99,984,620 (GRCm39) T292A probably benign Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lamb2 T A 9: 108,360,993 (GRCm39) W572R probably benign Het
Letmd1 A G 15: 100,367,702 (GRCm39) T87A probably damaging Het
Lrp2 A G 2: 69,278,513 (GRCm39) Y3947H probably damaging Het
Mocos T C 18: 24,822,044 (GRCm39) F685L probably damaging Het
Nsun6 A T 2: 15,001,285 (GRCm39) F424I probably damaging Het
Nup88 A G 11: 70,860,776 (GRCm39) M1T probably null Het
Or13p5 C T 4: 118,592,421 (GRCm39) R232C probably benign Het
Or14c45 C T 7: 86,176,195 (GRCm39) P77S probably damaging Het
Or4c29 T C 2: 88,740,617 (GRCm39) N40S probably damaging Het
Pcdhb12 T A 18: 37,570,762 (GRCm39) V636D probably damaging Het
Pclo C A 5: 14,565,453 (GRCm39) A73E probably damaging Het
Phldb1 G A 9: 44,610,933 (GRCm39) P67S possibly damaging Het
Ppp2r2b T C 18: 43,192,257 (GRCm39) T17A probably benign Het
Ppp4r3c2 A G X: 88,797,926 (GRCm39) H586R probably benign Het
Rab11fip4 T C 11: 79,574,328 (GRCm39) V241A probably benign Het
Slc41a1 T C 1: 131,768,690 (GRCm39) L216P probably damaging Het
Slco1a8 G T 6: 141,949,154 (GRCm39) A74E possibly damaging Het
Smg6 T A 11: 75,050,662 (GRCm39) D1352E probably damaging Het
Tbc1d9 A T 8: 83,985,942 (GRCm39) I816F probably damaging Het
Tex264 T C 9: 106,536,498 (GRCm39) T220A probably benign Het
Tmco6 G A 18: 36,874,829 (GRCm39) V439I probably damaging Het
Tmem64 A G 4: 15,266,717 (GRCm39) I256V probably damaging Het
Tnks1bp1 A G 2: 84,882,880 (GRCm39) S236G possibly damaging Het
Tsc1 A G 2: 28,560,942 (GRCm39) T267A possibly damaging Het
Txndc2 A G 17: 65,946,548 (GRCm39) probably null Het
Vmn2r94 G A 17: 18,497,695 (GRCm39) Q26* probably null Het
Zan T C 5: 137,387,511 (GRCm39) D4900G unknown Het
Zkscan3 T C 13: 21,572,766 (GRCm39) T122A probably benign Het
Other mutations in Pdlim7
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5866:Pdlim7 UTSW 13 55,646,501 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-02-04