Incidental Mutation 'R1857:Pdlim7'
ID 206259
Institutional Source Beutler Lab
Gene Symbol Pdlim7
Ensembl Gene ENSMUSG00000021493
Gene Name PDZ and LIM domain 7
Synonyms 2410002J21Rik, 1110003B01Rik, Enigma
MMRRC Submission 039881-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.862) question?
Stock # R1857 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 55645300-55661281 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55653858 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 253 (T253M)
Ref Sequence ENSEMBL: ENSMUSP00000120465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046246] [ENSMUST00000069929] [ENSMUST00000069968] [ENSMUST00000131306] [ENSMUST00000155098] [ENSMUST00000153426] [ENSMUST00000144288]
AlphaFold Q3TJD7
Predicted Effect probably damaging
Transcript: ENSMUST00000046246
AA Change: T253M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047173
Gene: ENSMUSG00000021493
AA Change: T253M

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 damaging
Transcript: ENSMUST00000155098
AA Change: T253M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120465
Gene: ENSMUSG00000021493
AA Change: T253M

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: ENSMUST00000184300
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153230
Predicted Effect probably benign
Transcript: ENSMUST00000153426
SMART Domains Protein: ENSMUSP00000118867
Gene: ENSMUSG00000021493

DomainStartEndE-ValueType
Pfam:PDZ 3 58 1.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144288
SMART Domains Protein: ENSMUSP00000121614
Gene: ENSMUSG00000021493

DomainStartEndE-ValueType
PDZ 12 85 3.74e-14 SMART
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.2%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,766,789 (GRCm39) I57N probably damaging Het
Abca15 T C 7: 119,960,592 (GRCm39) S685P probably damaging Het
Adpgk G T 9: 59,222,248 (GRCm39) V392L probably benign Het
Akap14 C T X: 36,420,779 (GRCm39) A476T probably damaging Het
Amdhd1 A T 10: 93,367,416 (GRCm39) I246N probably damaging Het
Amhr2 T A 15: 102,355,212 (GRCm39) L165* probably null Het
Atr T A 9: 95,747,150 (GRCm39) I144N probably damaging Het
Ccdc33 T C 9: 57,939,991 (GRCm39) N750S possibly damaging Het
Cdh23 A G 10: 60,159,076 (GRCm39) I2233T probably damaging Het
Cfap46 C A 7: 139,233,324 (GRCm39) V774F probably damaging Het
Cfap69 G T 5: 5,632,518 (GRCm39) T362K possibly damaging Het
Cnih3 A G 1: 181,277,638 (GRCm39) H101R probably damaging Het
Crebrf T A 17: 26,961,937 (GRCm39) Y345N probably benign Het
Cyb5r4 C T 9: 86,923,332 (GRCm39) S185L probably benign Het
Cyp2j5 T C 4: 96,547,723 (GRCm39) E173G possibly damaging Het
Cyp3a41b T A 5: 145,503,660 (GRCm39) I296F probably benign Het
Dse T C 10: 34,029,225 (GRCm39) T622A probably benign Het
Duxf4 A G 10: 58,071,602 (GRCm39) V204A probably benign Het
Dync1h1 T A 12: 110,629,059 (GRCm39) F4205L probably damaging Het
Eif3a A C 19: 60,770,635 (GRCm39) L71V probably damaging Het
Eif3h T C 15: 51,662,674 (GRCm39) Y124C probably damaging Het
Eif4g3 A T 4: 137,903,187 (GRCm39) Q1169L possibly damaging Het
Endod1 T A 9: 14,268,405 (GRCm39) H360L probably benign Het
Fbxo38 A G 18: 62,648,489 (GRCm39) I683T probably damaging Het
Frem2 T A 3: 53,562,294 (GRCm39) T738S probably benign Het
Gm1527 A T 3: 28,957,539 (GRCm39) T148S probably damaging Het
Gm4894 T C 9: 49,189,976 (GRCm39) S84P unknown Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Il1f10 A T 2: 24,182,817 (GRCm39) D31V possibly damaging Het
Lrrc56 A G 7: 140,787,421 (GRCm39) M353V probably benign Het
Meiob T C 17: 25,042,544 (GRCm39) V124A probably damaging Het
Mmp11 A T 10: 75,764,191 (GRCm39) D91E probably benign Het
Mpped2 T C 2: 106,613,989 (GRCm39) Y108H probably damaging Het
Mroh9 A G 1: 162,866,714 (GRCm39) V674A probably damaging Het
Mtor G T 4: 148,565,336 (GRCm39) Q1015H probably damaging Het
Mylk3 G A 8: 86,055,223 (GRCm39) T711I probably damaging Het
Ndufaf6 G T 4: 11,053,474 (GRCm39) H277Q probably benign Het
Neurl4 G T 11: 69,796,361 (GRCm39) G435V probably damaging Het
Nipal2 A G 15: 34,678,779 (GRCm39) S21P possibly damaging Het
Nphp1 T A 2: 127,612,296 (GRCm39) D217V probably benign Het
Nphp3 T C 9: 103,898,493 (GRCm39) I432T possibly damaging Het
Oprd1 T G 4: 131,840,992 (GRCm39) D322A probably damaging Het
Or10ag2 T C 2: 87,248,992 (GRCm39) L198P probably damaging Het
Or2b28 A G 13: 21,531,346 (GRCm39) M83V possibly damaging Het
Or56a3b T G 7: 104,770,751 (GRCm39) L29R probably benign Het
Pcdh10 C A 3: 45,334,372 (GRCm39) Q229K possibly damaging Het
Pfdn1 C A 18: 36,584,153 (GRCm39) M60I probably benign Het
Pigc T G 1: 161,798,446 (GRCm39) S143A possibly damaging Het
Pkd1l2 T C 8: 117,767,408 (GRCm39) D1294G possibly damaging Het
Ppp2r1a T C 17: 21,181,951 (GRCm39) S490P possibly damaging Het
Ppp2r3d T A 9: 101,090,092 (GRCm39) N77I probably damaging Het
Pramel17 T C 4: 101,692,770 (GRCm39) Y410C probably damaging Het
Pramel29 C T 4: 143,935,091 (GRCm39) V217I possibly damaging Het
Prl7a2 A T 13: 27,843,163 (GRCm39) C213* probably null Het
Prpf8 T A 11: 75,386,249 (GRCm39) probably null Het
Psmd7 A T 8: 108,311,525 (GRCm39) N109K probably damaging Het
Ptprn T C 1: 75,224,549 (GRCm39) K936E possibly damaging Het
Ro60 T C 1: 143,646,488 (GRCm39) T86A probably benign Het
Ror1 A T 4: 100,298,700 (GRCm39) Q691L probably damaging Het
Sars2 A G 7: 28,449,437 (GRCm39) M322V probably benign Het
Scfd2 C A 5: 74,372,962 (GRCm39) E638* probably null Het
Scgb3a2 A G 18: 43,899,900 (GRCm39) T63A probably benign Het
Slc5a4a T C 10: 76,002,569 (GRCm39) S242P probably benign Het
Smarcd1 A G 15: 99,607,295 (GRCm39) K382E probably damaging Het
Sox5 T A 6: 143,906,541 (GRCm39) S305C probably damaging Het
Sp5 C A 2: 70,307,213 (GRCm39) H299Q possibly damaging Het
Stard13 T C 5: 151,018,903 (GRCm39) Y60C probably damaging Het
Tmprss6 A G 15: 78,336,752 (GRCm39) F383L probably damaging Het
Ttc23 T C 7: 67,328,821 (GRCm39) probably null Het
Ugt2b34 T C 5: 87,052,241 (GRCm39) T252A possibly damaging Het
Vangl2 A T 1: 171,837,464 (GRCm39) L115Q probably damaging Het
Vmn1r42 A G 6: 89,821,597 (GRCm39) I324T probably benign Het
Vwa5b1 A G 4: 138,296,413 (GRCm39) F1205L probably damaging Het
Zfp951 G C 5: 104,962,723 (GRCm39) T281R probably damaging Het
Zscan30 A G 18: 24,104,524 (GRCm39) noncoding transcript 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
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 PCR Primer
(F):5'- TAACTCTCAGAAAGCAGCGG -3'
(R):5'- AAGGCTACCCTGGGTTCTAC -3'

Sequencing Primer
(F):5'- CTCTCAGAAAGCAGCGGAGGTAG -3'
(R):5'- GGTTCTACCCTCTACCCTTTGG -3'
Posted On 2014-06-23