Incidental Mutation 'R7911:Pdlim7'
ID 610530
Institutional Source Beutler Lab
Gene Symbol Pdlim7
Ensembl Gene ENSMUSG00000021493
Gene Name PDZ and LIM domain 7
Synonyms 2410002J21Rik, 1110003B01Rik, Enigma
MMRRC Submission 045960-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.862) question?
Stock # R7911 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 55645300-55661281 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55646919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 389 (E389G)
Ref Sequence ENSEMBL: ENSMUSP00000047173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046246] [ENSMUST00000155098]
AlphaFold Q3TJD7
Predicted Effect probably damaging
Transcript: ENSMUST00000046246
AA Change: E389G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047173
Gene: ENSMUSG00000021493
AA Change: E389G

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 damaging
Transcript: ENSMUST00000155098
AA Change: E389G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120465
Gene: ENSMUSG00000021493
AA Change: E389G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (67/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik T C 5: 107,693,667 (GRCm39) F95L probably benign Het
Abca3 C G 17: 24,617,478 (GRCm39) D1058E probably damaging Het
Abca7 C A 10: 79,840,867 (GRCm39) R919S probably benign Het
Abcc2 T C 19: 43,792,109 (GRCm39) S297P probably benign Het
Abcc8 A G 7: 45,803,860 (GRCm39) L438P probably damaging Het
Acbd6 C A 1: 155,562,750 (GRCm39) D250E probably damaging Het
Ankrd31 A G 13: 97,015,608 (GRCm39) N1626D possibly damaging Het
Arrdc4 C T 7: 68,394,924 (GRCm39) E112K probably benign Het
B3galnt1 T A 3: 69,482,574 (GRCm39) Y229F probably damaging Het
Calcrl A C 2: 84,181,575 (GRCm39) I191S probably damaging Het
Camkmt T A 17: 85,759,866 (GRCm39) probably null Het
Card11 A G 5: 140,867,755 (GRCm39) probably null Het
Cfap157 A G 2: 32,668,219 (GRCm39) L407P probably damaging Het
Cfap299 T A 5: 98,885,567 (GRCm39) M158K possibly damaging Het
Chst15 T C 7: 131,872,251 (GRCm39) Q10R probably benign Het
Ciao3 A G 17: 25,999,372 (GRCm39) E262G probably benign Het
Col26a1 A G 5: 136,771,952 (GRCm39) L424P probably damaging Het
Cryzl2 T C 1: 157,299,925 (GRCm39) M308T probably benign Het
Ctu2 T C 8: 123,207,733 (GRCm39) I403T probably benign Het
Ddhd2 A G 8: 26,238,563 (GRCm39) probably null Het
Dmrt1 T A 19: 25,580,692 (GRCm39) L368Q probably benign Het
Dnah7b C A 1: 46,178,838 (GRCm39) P837Q probably damaging Het
Drg2 T A 11: 60,355,001 (GRCm39) L283Q possibly damaging Het
Dscam G A 16: 96,445,122 (GRCm39) T1523I probably benign Het
Farp1 T C 14: 121,479,818 (GRCm39) S370P probably damaging Het
Fbxl21 G A 13: 56,684,976 (GRCm39) G360D probably damaging Het
Fbxo39 T C 11: 72,208,358 (GRCm39) S237P probably damaging Het
Gart G T 16: 91,435,672 (GRCm39) F180L probably benign Het
Gng4 T C 13: 13,999,857 (GRCm39) L42P possibly damaging Het
Heatr9 T A 11: 83,403,234 (GRCm39) D435V probably damaging Het
Hsh2d A G 8: 72,950,648 (GRCm39) E45G probably damaging Het
Ighv1-74 A G 12: 115,766,410 (GRCm39) I70T probably damaging Het
Igkv1-133 T A 6: 67,701,924 (GRCm39) F9L probably benign Het
Ipo5 A G 14: 121,167,051 (GRCm39) probably null Het
Jmjd1c T C 10: 67,067,774 (GRCm39) V1578A probably damaging Het
Kcnj5 T C 9: 32,233,517 (GRCm39) D266G probably damaging Het
Klk1b9 A T 7: 43,629,211 (GRCm39) K206N probably damaging Het
Macir T A 1: 97,573,615 (GRCm39) H150L probably damaging Het
Madd C T 2: 90,997,853 (GRCm39) G725D probably null Het
Mki67 A T 7: 135,306,333 (GRCm39) H576Q probably damaging Het
Mprip T A 11: 59,651,681 (GRCm39) I36N Het
Mycbp2 T G 14: 103,437,621 (GRCm39) E2113D probably damaging Het
Noa1 T C 5: 77,457,677 (GRCm39) Y76C probably damaging Het
Noct A G 3: 51,155,069 (GRCm39) probably benign Het
Or5ac23 C T 16: 59,149,606 (GRCm39) D89N possibly damaging Het
Pcdhga6 C T 18: 37,842,479 (GRCm39) S733L not run Het
Ppip5k1 A G 2: 121,173,139 (GRCm39) Y480H possibly damaging Het
Prc1 T A 7: 79,954,120 (GRCm39) D93E probably benign Het
Prdm15 A G 16: 97,613,792 (GRCm39) M459T probably benign Het
Ptpn13 G A 5: 103,688,924 (GRCm39) A906T probably damaging Het
Ptpn21 T C 12: 98,655,101 (GRCm39) E622G probably damaging Het
Pum1 T C 4: 130,501,788 (GRCm39) V1104A probably benign Het
Scn2a G A 2: 65,512,427 (GRCm39) R188Q probably null Het
Sh3pxd2b G A 11: 32,321,533 (GRCm39) V31I probably damaging Het
Skor1 T C 9: 63,052,328 (GRCm39) E547G possibly damaging Het
Slk C T 19: 47,603,668 (GRCm39) T183I Het
Sorcs1 C A 19: 50,132,470 (GRCm39) D1163Y unknown Het
Tex14 G A 11: 87,424,428 (GRCm39) probably null Het
Them5 A G 3: 94,253,496 (GRCm39) T169A possibly damaging Het
Tlcd4 A T 3: 121,022,041 (GRCm39) I119K probably damaging Het
Trav5-4 T C 14: 53,941,908 (GRCm39) F94L probably benign Het
Trpc6 G C 9: 8,656,705 (GRCm39) G789R probably benign Het
Ttn A T 2: 76,537,095 (GRCm39) C34944* probably null Het
Usp53 T C 3: 122,754,916 (GRCm39) M180V probably benign Het
Vwa3b T C 1: 37,193,107 (GRCm39) S8P probably damaging Het
Wdr90 A T 17: 26,069,723 (GRCm39) M1205K probably benign Het
Zcwpw1 A T 5: 137,795,032 (GRCm39) E76V probably null 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
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
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'- ATGTGTCATGCCAGCTGAAG -3'
(R):5'- TAATATTTTACAGCAGTGGGAGGG -3'

Sequencing Primer
(F):5'- TCATGCCAGCTGAAGCCCAG -3'
(R):5'- GGGAGGGGCCACGTCAG -3'
Posted On 2019-12-20