Incidental Mutation 'R9291:Dlg5'
ID 704301
Institutional Source Beutler Lab
Gene Symbol Dlg5
Ensembl Gene ENSMUSG00000021782
Gene Name discs large MAGUK scaffold protein 5
Synonyms 4933429D20Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9291 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 24184021-24295988 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24241229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 223 (T223A)
Ref Sequence ENSEMBL: ENSMUSP00000087879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073687] [ENSMUST00000090398]
AlphaFold E9Q9R9
Predicted Effect probably benign
Transcript: ENSMUST00000073687
AA Change: T200A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000073367
Gene: ENSMUSG00000021782
AA Change: T200A

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: T223A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000087879
Gene: ENSMUSG00000021782
AA Change: T223A

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: T139A

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: 99.8%
  • 20x: 99.2%
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
1110002E22Rik A G 3: 137,772,464 (GRCm39) N551S probably benign Het
Abcg5 C A 17: 84,976,380 (GRCm39) V486L probably benign Het
Acoxl T A 2: 127,814,493 (GRCm39) I303N probably damaging Het
Atp6v1h G T 1: 5,220,284 (GRCm39) W464L probably null Het
Cdcp2 A G 4: 106,964,053 (GRCm39) D301G probably damaging Het
Cenpv T C 11: 62,429,688 (GRCm39) D115G probably benign Het
Cnfn T C 7: 25,067,476 (GRCm39) D67G possibly damaging Het
Col27a1 A C 4: 63,142,539 (GRCm39) I76L probably damaging Het
Crb2 G A 2: 37,682,213 (GRCm39) V865I probably damaging Het
Ctf1 T A 7: 127,316,204 (GRCm39) L58Q probably damaging Het
Dennd6b C T 15: 89,071,590 (GRCm39) V276M possibly damaging Het
Dis3l2 A G 1: 86,901,215 (GRCm39) T483A possibly damaging Het
Dnah11 C T 12: 117,991,251 (GRCm39) E2372K probably damaging Het
Dnah8 T C 17: 30,944,099 (GRCm39) I1772T probably damaging Het
Dscaml1 T C 9: 45,359,251 (GRCm39) I170T probably damaging Het
Ehd4 G T 2: 119,921,755 (GRCm39) D500E probably damaging Het
Elac2 T C 11: 64,883,142 (GRCm39) I388T probably damaging Het
Entpd6 G A 2: 150,608,959 (GRCm39) V348M probably benign Het
Epg5 T A 18: 78,056,065 (GRCm39) C1746* probably null Het
Exosc2 G T 2: 31,560,871 (GRCm39) M40I probably benign Het
Fam193a T C 5: 34,593,835 (GRCm39) Y27H probably damaging Het
Gm8005 A G 14: 42,258,885 (GRCm39) F148L Het
Hectd4 T C 5: 121,487,028 (GRCm39) V3341A probably benign Het
Hecw1 A G 13: 14,491,522 (GRCm39) V77A probably benign Het
Irf2bp1 T A 7: 18,738,458 (GRCm39) C33S probably damaging Het
Kank4 A T 4: 98,666,688 (GRCm39) H586Q probably benign Het
Kcnu1 A G 8: 26,390,041 (GRCm39) N619S probably benign Het
Kndc1 A G 7: 139,475,140 (GRCm39) E13G possibly damaging Het
Lrp2 A T 2: 69,310,379 (GRCm39) D2731E probably damaging Het
Lyst A G 13: 13,883,938 (GRCm39) N2942S probably benign Het
Maml3 G A 3: 51,764,328 (GRCm39) T212M probably benign Het
Mill2 T C 7: 18,575,416 (GRCm39) V41A probably benign Het
Moxd2 C A 6: 40,857,362 (GRCm39) C466F probably damaging Het
Nefh A G 11: 4,890,871 (GRCm39) S583P probably benign Het
Nlrp9b T A 7: 19,758,511 (GRCm39) S583T possibly damaging Het
Nup214 T G 2: 31,867,806 (GRCm39) M91R probably benign Het
Or4c121 A C 2: 89,024,138 (GRCm39) M80R possibly damaging Het
Or6c206 T C 10: 129,097,202 (GRCm39) I124T probably damaging Het
Or8k53 A T 2: 86,177,768 (GRCm39) I114N probably benign Het
Otud4 A G 8: 80,372,952 (GRCm39) Y90C probably damaging Het
Papln C A 12: 83,825,284 (GRCm39) T575N probably benign Het
Pkhd1l1 T A 15: 44,433,372 (GRCm39) N3417K probably damaging Het
Pop7 A G 5: 137,499,911 (GRCm39) *141Q probably null Het
Pramel26 A T 4: 143,539,251 (GRCm39) Y81N probably benign Het
Rchy1 A G 5: 92,099,765 (GRCm39) L191S possibly damaging Het
Rims1 T C 1: 22,467,746 (GRCm39) D296G Het
Sftpb T A 6: 72,286,880 (GRCm39) C261* probably null Het
Sgcd C T 11: 46,870,166 (GRCm39) C265Y probably damaging Het
Slc44a5 G A 3: 153,962,218 (GRCm39) V384M possibly damaging Het
Slx4ip T A 2: 136,888,716 (GRCm39) N132K probably benign Het
Sspo C T 6: 48,473,330 (GRCm39) T4861M probably damaging Het
Swt1 T A 1: 151,286,694 (GRCm39) E266V probably damaging Het
Tbc1d9 A G 8: 83,987,750 (GRCm39) D903G probably damaging Het
Tbx18 A T 9: 87,611,535 (GRCm39) M165K probably damaging Het
Tmem25 T C 9: 44,706,799 (GRCm39) N282S probably damaging Het
Tom1l2 T C 11: 60,153,556 (GRCm39) I140M probably benign Het
Trak2 A G 1: 58,943,058 (GRCm39) S783P probably damaging Het
Trpv4 G A 5: 114,768,068 (GRCm39) T534M probably benign Het
Ttc6 G T 12: 57,622,730 (GRCm39) R43M probably damaging Het
Vmn1r194 A G 13: 22,428,875 (GRCm39) Y164C probably benign Het
Vmn1r228 T C 17: 20,997,023 (GRCm39) Y165C probably benign Het
Vps13b C A 15: 35,847,059 (GRCm39) T2614K probably damaging Het
Zdhhc14 T C 17: 5,698,237 (GRCm39) F102S probably benign Het
Zyg11b A G 4: 108,108,014 (GRCm39) M464T 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
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
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'- GGGGCTAACCATCTCTTTCATGC -3'
(R):5'- GTAGTCCAGTACACAGCCTG -3'

Sequencing Primer
(F):5'- CTTAGTAAAACTGAGTCCAAGAGGC -3'
(R):5'- GTAGTCCAGTACACAGCCTGAGTTC -3'
Posted On 2022-03-25