Incidental Mutation 'R2356:Dlg5'
ID 246966
Institutional Source Beutler Lab
Gene Symbol Dlg5
Ensembl Gene ENSMUSG00000021782
Gene Name discs large MAGUK scaffold protein 5
Synonyms 4933429D20Rik
MMRRC Submission 040338-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2356 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 24184021-24295988 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 24220496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000087879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042009] [ENSMUST00000073687] [ENSMUST00000090398]
AlphaFold E9Q9R9
Predicted Effect probably null
Transcript: ENSMUST00000042009
SMART Domains Protein: ENSMUSP00000044852
Gene: ENSMUSG00000021782

DomainStartEndE-ValueType
coiled coil region 20 247 N/A INTRINSIC
low complexity region 261 274 N/A INTRINSIC
PDZ 279 356 2.02e-10 SMART
PDZ 364 447 9.5e-16 SMART
low complexity region 510 517 N/A INTRINSIC
low complexity region 692 711 N/A INTRINSIC
low complexity region 903 918 N/A INTRINSIC
PDZ 1009 1080 2.1e-17 SMART
PDZ 1164 1236 2.97e-8 SMART
SH3 1250 1314 3.73e-7 SMART
low complexity region 1338 1358 N/A INTRINSIC
GuKc 1375 1561 5.43e-53 SMART
Predicted Effect probably null
Transcript: ENSMUST00000073687
SMART Domains Protein: ENSMUSP00000073367
Gene: ENSMUSG00000021782

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
low complexity region 22 36 N/A INTRINSIC
low complexity region 44 66 N/A INTRINSIC
Pfam:Takusan 104 191 1.4e-27 PFAM
coiled coil region 308 578 N/A INTRINSIC
low complexity region 592 605 N/A INTRINSIC
PDZ 610 687 2.02e-10 SMART
PDZ 695 773 1.25e-15 SMART
low complexity region 836 843 N/A INTRINSIC
low complexity region 1018 1037 N/A INTRINSIC
low complexity region 1229 1244 N/A INTRINSIC
PDZ 1335 1406 2.1e-17 SMART
PDZ 1490 1562 2.97e-8 SMART
SH3 1576 1640 3.73e-7 SMART
low complexity region 1664 1684 N/A INTRINSIC
GuKc 1701 1887 5.43e-53 SMART
Predicted Effect probably null
Transcript: ENSMUST00000090398
SMART Domains Protein: ENSMUSP00000087879
Gene: ENSMUSG00000021782

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
low complexity region 22 36 N/A INTRINSIC
low complexity region 44 66 N/A INTRINSIC
low complexity region 109 123 N/A INTRINSIC
Pfam:Takusan 128 213 6e-33 PFAM
coiled coil region 331 601 N/A INTRINSIC
low complexity region 615 628 N/A INTRINSIC
PDZ 633 710 2.02e-10 SMART
PDZ 718 796 1.25e-15 SMART
low complexity region 859 866 N/A INTRINSIC
low complexity region 1041 1060 N/A INTRINSIC
low complexity region 1252 1267 N/A INTRINSIC
PDZ 1358 1429 2.1e-17 SMART
PDZ 1513 1585 2.97e-8 SMART
SH3 1599 1663 3.73e-7 SMART
low complexity region 1687 1707 N/A INTRINSIC
GuKc 1724 1910 5.43e-53 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224920
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology. [provided by MGI curators]
Allele List at MGI

All alleles(19) : Targeted, other(1) Gene trapped(18)

Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 G T 16: 20,379,249 (GRCm39) R705L probably benign Het
Adcy6 A T 15: 98,494,897 (GRCm39) probably null Het
Ank1 A T 8: 23,575,688 (GRCm39) T145S probably damaging Het
Aph1a T C 3: 95,801,544 (GRCm39) F21S probably benign Het
Apoa5 T A 9: 46,181,341 (GRCm39) V139E probably damaging Het
Arhgap44 T C 11: 64,900,851 (GRCm39) K595R probably damaging Het
Arhgap5 C T 12: 52,565,930 (GRCm39) P967L probably benign Het
Atp13a5 A T 16: 29,099,887 (GRCm39) I683N probably damaging Het
Cdc6 A G 11: 98,810,118 (GRCm39) T476A probably benign Het
Cdk10 T C 8: 123,955,908 (GRCm39) V199A probably damaging Het
Ces2h G A 8: 105,742,570 (GRCm39) C94Y probably damaging Het
Clcn1 G A 6: 42,268,559 (GRCm39) G155D probably damaging Het
Cxcr4 A G 1: 128,517,251 (GRCm39) Y135H probably damaging Het
Dapp1 A G 3: 137,643,510 (GRCm39) V184A possibly damaging Het
Dhrs7 A C 12: 72,699,155 (GRCm39) S276A probably benign Het
Dnaaf1 T A 8: 120,315,026 (GRCm39) F278Y probably damaging Het
Dnaaf2 A G 12: 69,244,992 (GRCm39) F23S probably benign Het
En2 G T 5: 28,371,330 (GRCm39) probably benign Het
Erbb4 T A 1: 68,117,755 (GRCm39) M887L probably benign Het
Exoc5 T C 14: 49,253,738 (GRCm39) M482V probably benign Het
Foxk1 A G 5: 142,441,164 (GRCm39) I571V possibly damaging Het
Fry G A 5: 150,394,897 (GRCm39) G650D probably benign Het
Gm8225 T C 17: 26,762,378 (GRCm39) S190P probably damaging Het
Gpx5 G C 13: 21,475,538 (GRCm39) H63D possibly damaging Het
Ipo9 A T 1: 135,334,555 (GRCm39) S285T probably benign Het
Itga8 T C 2: 12,204,952 (GRCm39) H495R probably benign Het
Klf11 T C 12: 24,703,582 (GRCm39) S6P probably damaging Het
Krtap8-1 A T 16: 89,284,789 (GRCm39) Y3N possibly damaging Het
Krtap8-1 G T 16: 89,284,790 (GRCm39) Y2* probably null Het
Lama1 T A 17: 68,117,109 (GRCm39) L2468Q probably damaging Het
Lmo7 T C 14: 102,124,381 (GRCm39) L280S probably damaging Het
Matk G A 10: 81,097,377 (GRCm39) probably null Het
Mcmdc2 A G 1: 10,001,026 (GRCm39) T434A possibly damaging Het
Mst1r T A 9: 107,795,069 (GRCm39) L1283Q probably damaging Het
Muc21 A G 17: 35,932,563 (GRCm39) probably benign Het
Nbn T A 4: 15,970,863 (GRCm39) I282N probably damaging Het
Ncln A G 10: 81,328,756 (GRCm39) V174A probably benign Het
Nipa2 G A 7: 55,582,714 (GRCm39) H344Y probably benign Het
Nlrp4g A G 9: 124,349,306 (GRCm38) noncoding transcript Het
Or56b1 G T 7: 104,285,834 (GRCm39) E318* probably null Het
Or6c38 T C 10: 128,929,761 (GRCm39) I27M probably benign Het
Pik3r5 T C 11: 68,383,743 (GRCm39) S521P probably damaging Het
Pkhd1l1 C T 15: 44,396,415 (GRCm39) T1979M probably benign Het
Plekhn1 T G 4: 156,307,158 (GRCm39) D464A probably damaging Het
Ppp4r1 T A 17: 66,140,045 (GRCm39) Y648N probably damaging Het
Prkaa2 C T 4: 104,896,918 (GRCm39) probably null Het
Prkdc T A 16: 15,502,068 (GRCm39) H828Q probably benign Het
Prss40 A T 1: 34,598,984 (GRCm39) Y69* probably null Het
Prx C T 7: 27,207,284 (GRCm39) probably benign Het
Psmd11 T A 11: 80,319,530 (GRCm39) S7T possibly damaging Het
Psmd14 A T 2: 61,630,351 (GRCm39) H287L probably benign Het
Rcor1 T C 12: 111,076,226 (GRCm39) Y297H probably damaging Het
Rnf40 T G 7: 127,190,748 (GRCm39) V272G probably damaging Het
Serpina3f G T 12: 104,183,626 (GRCm39) E163* probably null Het
Setd4 G A 16: 93,387,871 (GRCm39) T205I probably damaging Het
Shroom1 A T 11: 53,357,274 (GRCm39) T646S probably benign Het
Smg8 G C 11: 86,976,554 (GRCm39) S342R probably benign Het
Spata31h1 A G 10: 82,119,789 (GRCm39) V4407A possibly damaging Het
Trhde T C 10: 114,237,421 (GRCm39) Y986C probably damaging Het
Tulp2 A T 7: 45,168,052 (GRCm39) T155S possibly damaging Het
Vmn1r212 A T 13: 23,068,120 (GRCm39) L71* probably null Het
Wnk2 A T 13: 49,192,644 (GRCm39) C2032* probably null Het
Zfp429 A G 13: 67,538,746 (GRCm39) Y233H probably benign Het
Zfp809 C A 9: 22,154,336 (GRCm39) T351K probably benign Het
Other mutations in Dlg5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Dlg5 APN 14 24,241,229 (GRCm39) missense probably damaging 0.99
IGL00164:Dlg5 APN 14 24,208,532 (GRCm39) missense possibly damaging 0.89
IGL00767:Dlg5 APN 14 24,215,353 (GRCm39) missense probably damaging 1.00
IGL01284:Dlg5 APN 14 24,196,265 (GRCm39) missense probably damaging 1.00
IGL01328:Dlg5 APN 14 24,252,419 (GRCm39) missense probably damaging 0.98
IGL01532:Dlg5 APN 14 24,208,660 (GRCm39) missense probably benign
IGL01621:Dlg5 APN 14 24,198,289 (GRCm39) missense probably damaging 1.00
IGL01649:Dlg5 APN 14 24,188,759 (GRCm39) missense probably damaging 1.00
IGL01733:Dlg5 APN 14 24,220,517 (GRCm39) missense probably damaging 1.00
IGL02048:Dlg5 APN 14 24,222,271 (GRCm39) missense possibly damaging 0.87
IGL02103:Dlg5 APN 14 24,194,414 (GRCm39) missense probably damaging 1.00
IGL02138:Dlg5 APN 14 24,208,419 (GRCm39) missense probably benign
IGL02146:Dlg5 APN 14 24,252,429 (GRCm39) missense probably damaging 0.99
IGL02392:Dlg5 APN 14 24,200,277 (GRCm39) missense probably damaging 1.00
IGL02427:Dlg5 APN 14 24,216,275 (GRCm39) missense probably damaging 1.00
IGL02643:Dlg5 APN 14 24,241,250 (GRCm39) missense probably damaging 1.00
IGL02649:Dlg5 APN 14 24,196,319 (GRCm39) missense probably damaging 0.96
IGL02933:Dlg5 APN 14 24,208,567 (GRCm39) missense probably benign 0.06
IGL02965:Dlg5 APN 14 24,222,091 (GRCm39) missense probably damaging 1.00
IGL02988:Dlg5 APN 14 24,216,323 (GRCm39) missense probably damaging 1.00
IGL03351:Dlg5 APN 14 24,220,522 (GRCm39) missense probably benign 0.03
legerdemain UTSW 14 24,214,615 (GRCm39) missense probably damaging 1.00
R0123:Dlg5 UTSW 14 24,197,274 (GRCm39) missense probably benign
R0131:Dlg5 UTSW 14 24,188,717 (GRCm39) missense probably damaging 1.00
R0709:Dlg5 UTSW 14 24,196,323 (GRCm39) missense probably damaging 1.00
R0920:Dlg5 UTSW 14 24,226,465 (GRCm39) missense probably damaging 1.00
R0924:Dlg5 UTSW 14 24,185,645 (GRCm39) missense probably damaging 1.00
R0930:Dlg5 UTSW 14 24,185,645 (GRCm39) missense probably damaging 1.00
R0981:Dlg5 UTSW 14 24,204,699 (GRCm39) missense probably damaging 1.00
R1402:Dlg5 UTSW 14 24,226,676 (GRCm39) missense probably benign 0.06
R1402:Dlg5 UTSW 14 24,226,676 (GRCm39) missense probably benign 0.06
R1438:Dlg5 UTSW 14 24,204,673 (GRCm39) missense possibly damaging 0.94
R1449:Dlg5 UTSW 14 24,185,711 (GRCm39) missense possibly damaging 0.82
R1465:Dlg5 UTSW 14 24,204,764 (GRCm39) splice site probably null
R1465:Dlg5 UTSW 14 24,204,764 (GRCm39) splice site probably null
R1543:Dlg5 UTSW 14 24,194,516 (GRCm39) missense probably damaging 1.00
R1824:Dlg5 UTSW 14 24,199,512 (GRCm39) missense probably benign 0.28
R1899:Dlg5 UTSW 14 24,198,368 (GRCm39) missense probably damaging 1.00
R1920:Dlg5 UTSW 14 24,226,639 (GRCm39) missense probably damaging 1.00
R1921:Dlg5 UTSW 14 24,226,639 (GRCm39) missense probably damaging 1.00
R1951:Dlg5 UTSW 14 24,206,537 (GRCm39) splice site probably benign
R1968:Dlg5 UTSW 14 24,214,187 (GRCm39) nonsense probably null
R2049:Dlg5 UTSW 14 24,204,715 (GRCm39) missense probably damaging 1.00
R2070:Dlg5 UTSW 14 24,186,703 (GRCm39) missense probably damaging 1.00
R2117:Dlg5 UTSW 14 24,227,826 (GRCm39) nonsense probably null
R2139:Dlg5 UTSW 14 24,220,612 (GRCm39) missense probably damaging 1.00
R2153:Dlg5 UTSW 14 24,187,225 (GRCm39) missense probably damaging 1.00
R2283:Dlg5 UTSW 14 24,208,731 (GRCm39) missense probably benign 0.00
R2293:Dlg5 UTSW 14 24,208,180 (GRCm39) missense probably benign
R2362:Dlg5 UTSW 14 24,208,755 (GRCm39) missense probably benign 0.04
R2513:Dlg5 UTSW 14 24,214,593 (GRCm39) missense probably damaging 1.00
R3084:Dlg5 UTSW 14 24,216,258 (GRCm39) missense probably damaging 1.00
R3086:Dlg5 UTSW 14 24,216,258 (GRCm39) missense probably damaging 1.00
R3750:Dlg5 UTSW 14 24,215,328 (GRCm39) missense probably damaging 1.00
R3780:Dlg5 UTSW 14 24,240,378 (GRCm39) unclassified probably benign
R3782:Dlg5 UTSW 14 24,240,378 (GRCm39) unclassified probably benign
R3828:Dlg5 UTSW 14 24,196,226 (GRCm39) missense probably damaging 0.99
R4079:Dlg5 UTSW 14 24,198,328 (GRCm39) missense possibly damaging 0.94
R4393:Dlg5 UTSW 14 24,228,057 (GRCm39) critical splice acceptor site probably null
R4615:Dlg5 UTSW 14 24,208,236 (GRCm39) missense probably damaging 1.00
R4664:Dlg5 UTSW 14 24,187,249 (GRCm39) missense possibly damaging 0.90
R4712:Dlg5 UTSW 14 24,228,051 (GRCm39) missense possibly damaging 0.94
R4796:Dlg5 UTSW 14 24,194,451 (GRCm39) missense probably damaging 1.00
R4801:Dlg5 UTSW 14 24,204,757 (GRCm39) missense probably damaging 1.00
R4802:Dlg5 UTSW 14 24,204,757 (GRCm39) missense probably damaging 1.00
R4946:Dlg5 UTSW 14 24,204,429 (GRCm39) missense probably damaging 0.99
R5022:Dlg5 UTSW 14 24,186,690 (GRCm39) missense probably damaging 1.00
R5023:Dlg5 UTSW 14 24,186,690 (GRCm39) missense probably damaging 1.00
R5057:Dlg5 UTSW 14 24,186,690 (GRCm39) missense probably damaging 1.00
R5234:Dlg5 UTSW 14 24,242,930 (GRCm39) missense probably damaging 0.98
R5561:Dlg5 UTSW 14 24,227,860 (GRCm39) missense probably benign 0.03
R5567:Dlg5 UTSW 14 24,242,981 (GRCm39) nonsense probably null
R5570:Dlg5 UTSW 14 24,242,981 (GRCm39) nonsense probably null
R5640:Dlg5 UTSW 14 24,220,529 (GRCm39) missense probably damaging 1.00
R5646:Dlg5 UTSW 14 24,208,767 (GRCm39) missense probably damaging 1.00
R5711:Dlg5 UTSW 14 24,200,716 (GRCm39) missense probably damaging 1.00
R5810:Dlg5 UTSW 14 24,196,322 (GRCm39) missense probably damaging 0.99
R5900:Dlg5 UTSW 14 24,199,515 (GRCm39) missense probably damaging 1.00
R5964:Dlg5 UTSW 14 24,214,157 (GRCm39) missense probably benign
R6190:Dlg5 UTSW 14 24,240,506 (GRCm39) missense probably damaging 0.99
R6240:Dlg5 UTSW 14 24,199,596 (GRCm39) splice site probably null
R6276:Dlg5 UTSW 14 24,214,636 (GRCm39) missense probably damaging 1.00
R6339:Dlg5 UTSW 14 24,208,128 (GRCm39) missense probably damaging 1.00
R6508:Dlg5 UTSW 14 24,188,774 (GRCm39) missense probably benign 0.45
R6527:Dlg5 UTSW 14 24,240,516 (GRCm39) missense possibly damaging 0.73
R6593:Dlg5 UTSW 14 24,200,720 (GRCm39) missense probably benign 0.01
R6687:Dlg5 UTSW 14 24,240,441 (GRCm39) missense probably damaging 1.00
R6965:Dlg5 UTSW 14 24,199,498 (GRCm39) missense probably damaging 1.00
R7051:Dlg5 UTSW 14 24,196,263 (GRCm39) missense possibly damaging 0.93
R7075:Dlg5 UTSW 14 24,227,865 (GRCm39) missense possibly damaging 0.49
R7149:Dlg5 UTSW 14 24,240,492 (GRCm39) missense probably benign 0.00
R7182:Dlg5 UTSW 14 24,294,924 (GRCm39) missense
R7203:Dlg5 UTSW 14 24,188,723 (GRCm39) missense probably damaging 1.00
R7216:Dlg5 UTSW 14 24,186,706 (GRCm39) nonsense probably null
R7359:Dlg5 UTSW 14 24,214,615 (GRCm39) missense probably damaging 1.00
R7466:Dlg5 UTSW 14 24,295,280 (GRCm39) missense probably damaging 1.00
R7485:Dlg5 UTSW 14 24,227,907 (GRCm39) missense probably damaging 0.98
R7485:Dlg5 UTSW 14 24,198,390 (GRCm39) missense probably benign
R7629:Dlg5 UTSW 14 24,295,280 (GRCm39) missense probably damaging 1.00
R7666:Dlg5 UTSW 14 24,207,867 (GRCm39) missense probably damaging 1.00
R7804:Dlg5 UTSW 14 24,215,388 (GRCm39) missense possibly damaging 0.46
R7861:Dlg5 UTSW 14 24,295,280 (GRCm39) missense probably damaging 1.00
R7862:Dlg5 UTSW 14 24,295,280 (GRCm39) missense probably damaging 1.00
R7864:Dlg5 UTSW 14 24,295,280 (GRCm39) missense probably damaging 1.00
R7874:Dlg5 UTSW 14 24,185,687 (GRCm39) missense probably damaging 1.00
R7913:Dlg5 UTSW 14 24,187,192 (GRCm39) splice site probably null
R7981:Dlg5 UTSW 14 24,208,213 (GRCm39) missense probably benign
R8147:Dlg5 UTSW 14 24,208,395 (GRCm39) missense probably benign 0.07
R8204:Dlg5 UTSW 14 24,210,320 (GRCm39) missense probably damaging 1.00
R8206:Dlg5 UTSW 14 24,210,336 (GRCm39) missense possibly damaging 0.62
R8287:Dlg5 UTSW 14 24,214,453 (GRCm39) missense probably benign 0.40
R8296:Dlg5 UTSW 14 24,198,328 (GRCm39) missense possibly damaging 0.94
R8317:Dlg5 UTSW 14 24,241,298 (GRCm39) missense probably damaging 0.98
R8327:Dlg5 UTSW 14 24,196,388 (GRCm39) missense probably damaging 0.99
R8352:Dlg5 UTSW 14 24,241,261 (GRCm39) missense probably damaging 1.00
R8353:Dlg5 UTSW 14 24,208,213 (GRCm39) missense probably benign
R8409:Dlg5 UTSW 14 24,226,546 (GRCm39) missense probably damaging 1.00
R8452:Dlg5 UTSW 14 24,241,261 (GRCm39) missense probably damaging 1.00
R8453:Dlg5 UTSW 14 24,208,213 (GRCm39) missense probably benign
R8540:Dlg5 UTSW 14 24,208,767 (GRCm39) missense probably damaging 1.00
R8701:Dlg5 UTSW 14 24,226,768 (GRCm39) missense probably benign 0.04
R8925:Dlg5 UTSW 14 24,206,547 (GRCm39) missense
R8927:Dlg5 UTSW 14 24,206,547 (GRCm39) missense
R9025:Dlg5 UTSW 14 24,199,546 (GRCm39) missense probably benign 0.00
R9102:Dlg5 UTSW 14 24,199,567 (GRCm39) missense probably damaging 1.00
R9138:Dlg5 UTSW 14 24,295,376 (GRCm39) missense probably damaging 0.98
R9165:Dlg5 UTSW 14 24,196,309 (GRCm39) missense probably damaging 1.00
R9250:Dlg5 UTSW 14 24,240,543 (GRCm39) missense probably benign 0.07
R9267:Dlg5 UTSW 14 24,204,745 (GRCm39) missense probably damaging 1.00
R9269:Dlg5 UTSW 14 24,242,881 (GRCm39) missense probably damaging 0.99
R9291:Dlg5 UTSW 14 24,241,229 (GRCm39) missense probably damaging 0.99
R9387:Dlg5 UTSW 14 24,197,168 (GRCm39) missense probably damaging 0.99
R9729:Dlg5 UTSW 14 24,204,681 (GRCm39) missense probably benign 0.00
RF005:Dlg5 UTSW 14 24,208,561 (GRCm39) nonsense probably null
YA93:Dlg5 UTSW 14 24,205,201 (GRCm39) unclassified probably benign
Z1088:Dlg5 UTSW 14 24,208,162 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGGTGCCATCTTCTATAGACTG -3'
(R):5'- ATACGGTACAGACCTCAGGC -3'

Sequencing Primer
(F):5'- TGCCAATATTCAAACCCACTCGG -3'
(R):5'- GTACAGACCTCAGGCCCTTC -3'
Posted On 2014-10-30