Incidental Mutation 'R8327:Dlg5'
ID 644175
Institutional Source Beutler Lab
Gene Symbol Dlg5
Ensembl Gene ENSMUSG00000021782
Gene Name discs large MAGUK scaffold protein 5
Synonyms 4933429D20Rik
MMRRC Submission 067858-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8327 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 24184021-24295988 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24196388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 1603 (A1603V)
Ref Sequence ENSEMBL: ENSMUSP00000087879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042009] [ENSMUST00000073687] [ENSMUST00000090398]
AlphaFold E9Q9R9
Predicted Effect possibly damaging
Transcript: ENSMUST00000042009
AA Change: A1254V

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000044852
Gene: ENSMUSG00000021782
AA Change: A1254V

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 possibly damaging
Transcript: ENSMUST00000073687
AA Change: A1580V

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000073367
Gene: ENSMUSG00000021782
AA Change: A1580V

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 damaging
Transcript: ENSMUST00000090398
AA Change: A1603V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000087879
Gene: ENSMUSG00000021782
AA Change: A1603V

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 probably benign
Transcript: ENSMUST00000166007
SMART Domains Protein: ENSMUSP00000127054
Gene: ENSMUSG00000021782

DomainStartEndE-ValueType
low complexity region 41 61 N/A INTRINSIC
GuKc 78 224 6.17e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170112
SMART Domains Protein: ENSMUSP00000128735
Gene: ENSMUSG00000021782

DomainStartEndE-ValueType
Blast:PDZ 2 45 4e-25 BLAST
PDB:1UIT|A 2 50 7e-30 PDB
SCOP:d1ky9a1 2 51 7e-7 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T A 5: 113,331,685 (GRCm39) D843V possibly damaging Het
6330409D20Rik T A 2: 32,627,623 (GRCm39) Q111L unknown Het
Abcc5 C A 16: 20,241,068 (GRCm39) R39L probably benign Het
Acbd3 C A 1: 180,566,158 (GRCm39) Q284K probably damaging Het
Adgrv1 C T 13: 81,593,462 (GRCm39) R4175H probably damaging Het
Ankrd27 T C 7: 35,300,985 (GRCm39) L95P probably damaging Het
Apc2 T G 10: 80,137,764 (GRCm39) D68E probably damaging Het
Apob A T 12: 8,051,015 (GRCm39) I1093F possibly damaging Het
Arid2 T A 15: 96,260,485 (GRCm39) D411E probably damaging Het
Astn1 T A 1: 158,436,850 (GRCm39) Y811N probably damaging Het
Calhm5 A C 10: 33,972,064 (GRCm39) F124V probably damaging Het
Ccdc187 T C 2: 26,170,630 (GRCm39) H616R probably benign Het
Ccdc198 C T 14: 49,470,356 (GRCm39) G197S possibly damaging Het
Clca4b T C 3: 144,627,762 (GRCm39) Y403C possibly damaging Het
Dagla C T 19: 10,228,451 (GRCm39) V656I probably benign Het
Dguok A C 6: 83,464,061 (GRCm39) W166G probably damaging Het
Fanca G A 8: 124,039,984 (GRCm39) Q138* probably null Het
Fbxl19 T A 7: 127,347,520 (GRCm39) C25* probably null Het
Gm49383 C A 12: 69,243,643 (GRCm39) E79* probably null Het
Lcor C T 19: 41,570,996 (GRCm39) S63L probably damaging Het
Lrp2 T C 2: 69,322,268 (GRCm39) Y1887C probably damaging Het
Mast3 T C 8: 71,232,062 (GRCm39) D1305G probably damaging Het
Mreg C A 1: 72,203,257 (GRCm39) R107L possibly damaging Het
Nbn T A 4: 15,981,470 (GRCm39) S521T probably benign Het
Nxpe2 C A 9: 48,231,059 (GRCm39) V437L probably benign Het
Or2t49 T C 11: 58,392,942 (GRCm39) M153V probably benign Het
Or51s1 A T 7: 102,558,926 (GRCm39) I40N probably damaging Het
Or8c13 T C 9: 38,091,186 (GRCm39) E311G possibly damaging Het
Pcdhb5 A C 18: 37,453,953 (GRCm39) K111T probably benign Het
Pi4kb A G 3: 94,906,192 (GRCm39) I580V probably benign Het
Plaat3 T C 19: 7,556,514 (GRCm39) L105P probably benign Het
Rbm15b A G 9: 106,761,646 (GRCm39) S841P probably benign Het
Reep2 A G 18: 34,975,566 (GRCm39) N31S probably damaging Het
Scmh1 C T 4: 120,379,699 (GRCm39) H505Y probably benign Het
Setd1a T A 7: 127,390,669 (GRCm39) L1115H unknown Het
Slc26a3 A G 12: 31,516,430 (GRCm39) D596G possibly damaging Het
Smg5 G T 3: 88,252,714 (GRCm39) A167S probably damaging Het
Supv3l1 T C 10: 62,277,004 (GRCm39) T255A probably damaging Het
Synrg G A 11: 83,899,731 (GRCm39) A568T probably benign Het
Tmem132a G T 19: 10,836,311 (GRCm39) P740T probably benign Het
Tmem181a T C 17: 6,351,680 (GRCm39) L353P probably damaging Het
Tubgcp3 T C 8: 12,704,343 (GRCm39) E242G probably benign Het
Vmn2r77 A T 7: 86,450,680 (GRCm39) T189S probably benign Het
Zfp638 T G 6: 83,905,679 (GRCm39) L44W probably damaging Het
Zfp715 G A 7: 42,947,482 (GRCm39) T826I possibly damaging Het
Zfp865 G A 7: 5,034,058 (GRCm39) S681N probably benign Het
Zscan5b C T 7: 6,236,946 (GRCm39) P232S possibly damaging 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
R2356:Dlg5 UTSW 14 24,220,496 (GRCm39) critical splice donor site probably null
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
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'- CGTATTTGCTGGGAATCTGCC -3'
(R):5'- CAGGCAGATAGAAAATGTCTGTTTG -3'

Sequencing Primer
(F):5'- AATCTGCCCACGCTGGATC -3'
(R):5'- GGAAGTCTTTCCCCAGTGG -3'
Posted On 2020-09-02