Incidental Mutation 'R8352:Dlg5'
ID 645584
Institutional Source Beutler Lab
Gene Symbol Dlg5
Ensembl Gene ENSMUSG00000021782
Gene Name discs large MAGUK scaffold protein 5
Synonyms 4933429D20Rik
MMRRC Submission 067733-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8352 (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 T at 24241261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 212 (A212D)
Ref Sequence ENSEMBL: ENSMUSP00000087879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073687] [ENSMUST00000090398]
AlphaFold E9Q9R9
Predicted Effect probably damaging
Transcript: ENSMUST00000073687
AA Change: A189D

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073367
Gene: ENSMUSG00000021782
AA Change: A189D

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: A212D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087879
Gene: ENSMUSG00000021782
AA Change: A212D

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
SMART Domains Protein: ENSMUSP00000131986
Gene: ENSMUSG00000021782
AA Change: A128D

DomainStartEndE-ValueType
low complexity region 26 40 N/A INTRINSIC
Pfam:Takusan 45 130 1.9e-34 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik G A 5: 138,561,188 (GRCm39) T158M probably benign Het
Actl7b T A 4: 56,740,251 (GRCm39) D369V probably damaging Het
Apc A G 18: 34,445,804 (GRCm39) D900G possibly damaging Het
Bola1 G A 3: 96,104,573 (GRCm39) A7V probably benign Het
Bud13 A G 9: 46,199,377 (GRCm39) N246S possibly damaging Het
Cdkal1 G A 13: 29,538,663 (GRCm39) P499S probably benign Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cntnap5c C T 17: 58,362,687 (GRCm39) R347W probably damaging Het
Cox8b T A 7: 140,478,929 (GRCm39) E62V probably null Het
Cyp2t4 G A 7: 26,857,162 (GRCm39) A342T probably benign Het
Cyp8b1 A G 9: 121,744,997 (GRCm39) Y112H probably damaging Het
Dnah7a T C 1: 53,466,986 (GRCm39) E3626G probably null Het
Dpys T C 15: 39,656,720 (GRCm39) E449G possibly damaging Het
Fam187a C A 11: 102,777,400 (GRCm39) C401* probably null Het
Fsip2 A T 2: 82,814,937 (GRCm39) I3557L probably benign Het
Gpr165 C A X: 95,757,623 (GRCm39) D7E probably benign Het
H2bc7 A G 13: 23,758,219 (GRCm39) V49A probably damaging Het
Ifi213 T C 1: 173,422,835 (GRCm39) K10R possibly damaging Het
Lrrfip1 T C 1: 90,926,541 (GRCm39) S8P probably benign Het
Morc2b T C 17: 33,356,476 (GRCm39) D432G probably damaging Het
Mrgpra4 T A 7: 47,631,425 (GRCm39) I59F probably damaging Het
Mttp A T 3: 137,818,374 (GRCm39) D361E probably damaging Het
Mysm1 A G 4: 94,863,510 (GRCm39) S28P probably damaging Het
Nrdc T A 4: 108,876,260 (GRCm39) V284D probably damaging Het
Nrip2 A T 6: 128,384,957 (GRCm39) D203V probably damaging Het
Oog4 A T 4: 143,164,047 (GRCm39) Y495N probably benign Het
Or52h1 A T 7: 103,829,103 (GRCm39) C171S probably damaging Het
Or52n4 A T 7: 104,293,736 (GRCm39) V281E possibly damaging Het
Or7g19 T A 9: 18,856,459 (GRCm39) L172M possibly damaging Het
Or8c11 A T 9: 38,289,647 (GRCm39) M151L probably benign Het
Pacrg T A 17: 10,795,523 (GRCm39) R146* probably null Het
Pcdh18 A T 3: 49,699,624 (GRCm39) M946K possibly damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pign A G 1: 105,575,917 (GRCm39) I241T probably benign Het
Pik3cg A G 12: 32,243,639 (GRCm39) I944T probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Ppp2r5c T A 12: 110,510,511 (GRCm39) F99L probably benign Het
Prex1 A T 2: 166,431,493 (GRCm39) N756K probably benign Het
Prex2 A T 1: 11,355,363 (GRCm39) M1555L probably benign Het
Prex2 T G 1: 11,355,364 (GRCm39) M1555R probably benign Het
Prl3c1 T A 13: 27,386,385 (GRCm39) D123E probably benign Het
Prr22 G A 17: 57,078,311 (GRCm39) G155R probably damaging Het
Rev3l A G 10: 39,698,899 (GRCm39) D1132G probably damaging Het
Rnf180 A T 13: 105,318,056 (GRCm39) F452Y probably damaging Het
Scn4b A T 9: 45,058,039 (GRCm39) I44F possibly damaging Het
Sirpb1b T A 3: 15,607,410 (GRCm39) I291L probably benign Het
Slc12a9 C A 5: 137,313,737 (GRCm39) V741L probably benign Het
Tbc1d8 G T 1: 39,444,438 (GRCm39) R174S probably damaging Het
Tenm2 A G 11: 35,914,428 (GRCm39) F2370L probably damaging Het
Tfec T A 6: 16,844,202 (GRCm39) H115L probably damaging Het
Tnxb A T 17: 34,908,381 (GRCm39) T1345S probably damaging Het
Ttn T A 2: 76,568,831 (GRCm39) N27354I probably damaging Het
Unc13c A G 9: 73,838,290 (GRCm39) Y854H probably damaging Het
Utrn A T 10: 12,689,253 (GRCm39) W11R probably benign Het
Vmn2r26 A G 6: 124,016,577 (GRCm39) Q347R 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
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
R8327:Dlg5 UTSW 14 24,196,388 (GRCm39) missense probably damaging 0.99
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'- TCCAAGAGGCACAAGTCCTC -3'
(R):5'- TACATAGGAGCCAGGATGCG -3'

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