Incidental Mutation 'R5385:Dlg2'
ID 425073
Institutional Source Beutler Lab
Gene Symbol Dlg2
Ensembl Gene ENSMUSG00000052572
Gene Name discs large MAGUK scaffold protein 2
Synonyms Gm21505, Chapsyn-110, LOC382816, Dlgh2, PSD93, B330007M19Rik, A330103J02Rik, B230218P12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5385 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 90125880-92098455 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91737784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 422 (V422A)
Ref Sequence ENSEMBL: ENSMUSP00000102814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074273] [ENSMUST00000098308] [ENSMUST00000107193] [ENSMUST00000107196] [ENSMUST00000231777]
AlphaFold Q91XM9
PDB Structure CRYSTAL STRUCTURE OF THE PSD93 PDZ1 DOMAIN [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000074273
AA Change: V422A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000073885
Gene: ENSMUSG00000052572
AA Change: V422A

DomainStartEndE-ValueType
MAGUK_N_PEST 14 97 1.5e-47 SMART
PDZ 106 185 1.15e-23 SMART
PDZ 201 280 9.86e-23 SMART
PDZ 429 502 1.77e-24 SMART
low complexity region 523 530 N/A INTRINSIC
SH3 539 605 7.82e-10 SMART
low complexity region 631 644 N/A INTRINSIC
GuKc 679 858 2.6e-73 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000098308
AA Change: V19A

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095910
Gene: ENSMUSG00000052572
AA Change: V19A

DomainStartEndE-ValueType
PDZ 26 99 1.77e-24 SMART
low complexity region 120 127 N/A INTRINSIC
SH3 136 202 7.82e-10 SMART
low complexity region 228 241 N/A INTRINSIC
GuKc 290 469 2.6e-73 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107193
AA Change: V325A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102811
Gene: ENSMUSG00000052572
AA Change: V325A

DomainStartEndE-ValueType
low complexity region 45 57 N/A INTRINSIC
PDZ 61 140 1.15e-23 SMART
PDZ 156 235 9.86e-23 SMART
PDZ 332 405 1.77e-24 SMART
low complexity region 426 433 N/A INTRINSIC
SH3 442 508 7.82e-10 SMART
GuKc 564 743 2.6e-73 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107196
AA Change: V422A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102814
Gene: ENSMUSG00000052572
AA Change: V422A

DomainStartEndE-ValueType
MAGUK_N_PEST 14 97 1.5e-47 SMART
PDZ 106 185 1.15e-23 SMART
PDZ 201 280 9.86e-23 SMART
PDZ 429 502 1.77e-24 SMART
low complexity region 523 530 N/A INTRINSIC
SH3 539 605 7.82e-10 SMART
GuKc 661 840 2.6e-73 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207593
Predicted Effect possibly damaging
Transcript: ENSMUST00000231777
AA Change: V527A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 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 membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described, but their full-length nature is not known. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display lower surface expression of NMDA receptor (NMDAR) subunits NR2A and NR2B in dorsal horn neurons and significantly reduced NMDAR-mediated excitatory synaptic currents and NMDAR-dependent persistent inflammatory or nerve injury-induced neuropathic pain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 129 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a T C 10: 80,421,446 (GRCm39) T175A probably benign Het
Adam23 A G 1: 63,590,970 (GRCm39) D479G possibly damaging Het
Adgrl3 T G 5: 81,874,648 (GRCm39) Y1050D probably damaging Het
Ago4 A G 4: 126,411,349 (GRCm39) I103T probably benign Het
Ajuba T C 14: 54,807,855 (GRCm39) Y459C probably damaging Het
Aldh7a1 T A 18: 56,667,325 (GRCm39) N316Y possibly damaging Het
Alyref2 A G 1: 171,331,271 (GRCm39) N16S probably benign Het
Ankhd1 A G 18: 36,724,548 (GRCm39) E402G probably damaging Het
Ankrd36 A G 11: 5,639,340 (GRCm39) probably benign Het
Ap2b1 T C 11: 83,233,427 (GRCm39) V480A probably damaging Het
Arhgap30 A G 1: 171,235,848 (GRCm39) R741G probably benign Het
Canx A G 11: 50,192,639 (GRCm39) L325P probably damaging Het
Ccpg1 G A 9: 72,920,326 (GRCm39) S647N probably benign Het
Cdc37l1 T G 19: 28,989,343 (GRCm39) S267A possibly damaging Het
Cert1 A G 13: 96,765,575 (GRCm39) T447A possibly damaging Het
Ces1f A T 8: 93,992,388 (GRCm39) C354* probably null Het
Cpne1 A T 2: 155,916,284 (GRCm39) V350D probably damaging Het
Ctdsp2 A G 10: 126,832,326 (GRCm39) T262A probably benign Het
Cypt4 A G 9: 24,536,596 (GRCm39) K29E possibly damaging Het
Dmxl2 A G 9: 54,286,041 (GRCm39) S2715P probably benign Het
Dnah3 T A 7: 119,524,126 (GRCm39) K3953N probably damaging Het
Dnmt1 A G 9: 20,829,776 (GRCm39) V647A probably damaging Het
Duox2 A G 2: 122,125,617 (GRCm39) V330A probably benign Het
Dusp8 T A 7: 141,643,730 (GRCm39) Q61L possibly damaging Het
Dync2h1 T C 9: 7,016,791 (GRCm39) D3573G probably damaging Het
Ears2 G C 7: 121,643,600 (GRCm39) T426S probably benign Het
Ext1 C A 15: 52,939,213 (GRCm39) W612L probably damaging Het
Fam91a1 G A 15: 58,320,243 (GRCm39) S645N probably benign Het
Fat3 A T 9: 15,833,971 (GRCm39) L4207Q possibly damaging Het
Fbxo38 A G 18: 62,674,042 (GRCm39) M13T probably benign Het
Fbxo48 G T 11: 16,904,329 (GRCm39) L160F possibly damaging Het
Fer1l4 G A 2: 155,879,286 (GRCm39) Q906* probably null Het
Fpr2 C A 17: 18,113,309 (GRCm39) H102N probably benign Het
Gm10134 T A 2: 28,396,372 (GRCm39) probably benign Het
Gpr107 A G 2: 31,104,263 (GRCm39) T523A probably benign Het
Grin3a G A 4: 49,719,313 (GRCm39) P811L probably damaging Het
Hivep1 A T 13: 42,317,871 (GRCm39) probably null Het
Hmcn2 A G 2: 31,350,333 (GRCm39) T5077A probably benign Het
Hpse C T 5: 100,856,590 (GRCm39) W136* probably null Het
Ifitm3 T C 7: 140,590,554 (GRCm39) N2S probably benign Het
Ifnar2 T A 16: 91,201,086 (GRCm39) D442E possibly damaging Het
Jade1 T A 3: 41,546,137 (GRCm39) I54N probably damaging Het
Jag1 A T 2: 136,937,464 (GRCm39) H303Q possibly damaging Het
Kcnh4 T C 11: 100,643,076 (GRCm39) D397G probably damaging Het
Kcnj1 A G 9: 32,308,019 (GRCm39) R148G probably damaging Het
Lct T G 1: 128,239,354 (GRCm39) K277N possibly damaging Het
Loxl3 A G 6: 83,027,593 (GRCm39) M712V probably damaging Het
Ly75 A G 2: 60,133,985 (GRCm39) C1547R probably damaging Het
Marcks A G 10: 37,014,453 (GRCm39) S27P probably damaging Het
Mef2c A G 13: 83,810,532 (GRCm39) T347A probably benign Het
Mmp3 C T 9: 7,451,759 (GRCm39) R366* probably null Het
Mrgprx2 T C 7: 48,132,753 (GRCm39) T22A probably benign Het
Msc C A 1: 14,825,644 (GRCm39) R110L probably damaging Het
Mtcl3 A G 10: 29,072,766 (GRCm39) D686G probably benign Het
Myh11 A T 16: 14,025,872 (GRCm39) V1366D possibly damaging Het
Ncf1 A G 5: 134,250,659 (GRCm39) L373P probably damaging Het
Neb A T 2: 52,079,873 (GRCm39) I85N probably damaging Het
Nfkb1 A G 3: 135,318,303 (GRCm39) V310A possibly damaging Het
Nop2 T C 6: 125,121,324 (GRCm39) V702A probably benign Het
Nudt12 A G 17: 59,310,434 (GRCm39) W390R probably damaging Het
Or10ag53 C T 2: 87,082,827 (GRCm39) P182L probably benign Het
Or10v9 T A 19: 11,832,541 (GRCm39) I259F probably damaging Het
Or11g24 T A 14: 50,662,846 (GRCm39) V290E possibly damaging Het
Or1af1 G T 2: 37,109,599 (GRCm39) A33S possibly damaging Het
Or51e1 T C 7: 102,358,553 (GRCm39) L29P probably damaging Het
Or6c208 A G 10: 129,223,633 (GRCm39) I44V probably benign Het
Or6n2 A T 1: 173,897,036 (GRCm39) K57N probably benign Het
Or8a1b A T 9: 37,623,317 (GRCm39) V86E probably damaging Het
Or8c11 A T 9: 38,289,281 (GRCm39) I29F probably benign Het
Or8g2b A G 9: 39,751,126 (GRCm39) Y132C possibly damaging Het
Otub2 G A 12: 103,359,055 (GRCm39) probably benign Het
Pck2 A G 14: 55,782,688 (GRCm39) E339G probably damaging Het
Pdcd7 G A 9: 65,265,974 (GRCm39) W477* probably null Het
Pdpk1 G A 17: 24,317,114 (GRCm39) Q250* probably null Het
Pigb T A 9: 72,946,827 (GRCm39) H16L probably benign Het
Pitpnm1 T C 19: 4,153,435 (GRCm39) F197S probably damaging Het
Plekhh2 T C 17: 84,864,894 (GRCm39) V94A probably benign Het
Pnpla7 C A 2: 24,931,031 (GRCm39) P882Q probably damaging Het
Pold2 A G 11: 5,826,760 (GRCm39) L58P probably damaging Het
Pomt1 C G 2: 32,134,311 (GRCm39) Y277* probably null Het
Prex2 A G 1: 11,210,204 (GRCm39) D548G probably damaging Het
Prkra T G 2: 76,469,622 (GRCm39) T146P probably damaging Het
Prss51 T A 14: 64,334,543 (GRCm39) V108E probably damaging Het
Rai2 A G X: 160,561,636 (GRCm39) N363S probably benign Het
Ranbp17 A T 11: 33,169,241 (GRCm39) V991D possibly damaging Het
Riox2 T A 16: 59,306,979 (GRCm39) M290K probably benign Het
Rnpepl1 T A 1: 92,844,914 (GRCm39) L402Q probably damaging Het
S1pr2 T C 9: 20,878,890 (GRCm39) T313A probably benign Het
Sesn2 A G 4: 132,226,575 (GRCm39) I173T probably damaging Het
Setx T G 2: 29,024,045 (GRCm39) probably null Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Het
Sgsm3 T C 15: 80,892,200 (GRCm39) V256A probably benign Het
Shroom4 T A X: 6,497,523 (GRCm39) C894* probably null Het
Slc13a5 T A 11: 72,149,903 (GRCm39) E159D probably benign Het
Slc16a7 A G 10: 125,130,473 (GRCm39) Y71H possibly damaging Het
Slc28a2b C A 2: 122,353,259 (GRCm39) L480I probably benign Het
Slc4a7 T C 14: 14,773,345 (GRCm38) F772L possibly damaging Het
Snapc4 A G 2: 26,264,515 (GRCm39) S275P probably benign Het
Sorl1 T C 9: 41,968,580 (GRCm39) T558A possibly damaging Het
Sspo C T 6: 48,439,187 (GRCm39) P1612S probably benign Het
Stard9 A G 2: 120,531,111 (GRCm39) E2456G probably damaging Het
Stx1b A T 7: 127,414,575 (GRCm39) D16E probably benign Het
Supv3l1 A T 10: 62,266,375 (GRCm39) N600K possibly damaging Het
Syne1 C T 10: 4,991,494 (GRCm39) V557I probably benign Het
Tanc2 T A 11: 105,667,672 (GRCm39) D84E probably damaging Het
Tep1 A T 14: 51,105,774 (GRCm39) L82Q probably damaging Het
Tfip11 T C 5: 112,479,086 (GRCm39) probably null Het
Thtpa G T 14: 55,333,290 (GRCm39) R125L probably damaging Het
Tm9sf1 C T 14: 55,880,301 (GRCm39) G32D possibly damaging Het
Tmcc3 A T 10: 94,415,015 (GRCm39) N239I probably damaging Het
Tpd52 A T 3: 8,996,255 (GRCm39) probably null Het
Traf6 T A 2: 101,515,100 (GRCm39) C85* probably null Het
Trim68 T G 7: 102,327,990 (GRCm39) D321A probably damaging Het
Trmt6 C A 2: 132,650,703 (GRCm39) A302S probably benign Het
Ttbk1 T C 17: 46,758,558 (GRCm39) D692G probably benign Het
Ttc17 A T 2: 94,133,985 (GRCm39) W1067R probably damaging Het
Ttc6 T A 12: 57,689,821 (GRCm39) probably null Het
Tut7 A T 13: 59,937,660 (GRCm39) probably null Het
Txnrd2 T G 16: 18,296,442 (GRCm39) I468S probably damaging Het
Ube2b A T 11: 51,879,471 (GRCm39) Y100N probably damaging Het
Ucn3 A T 13: 3,991,474 (GRCm39) F59L probably benign Het
Uggt1 A G 1: 36,223,493 (GRCm39) Y599H probably damaging Het
Ulk3 T A 9: 57,498,023 (GRCm39) I108N possibly damaging Het
Vav3 A G 3: 109,434,791 (GRCm39) M441V possibly damaging Het
Vmn2r1 T A 3: 64,008,819 (GRCm39) D499E possibly damaging Het
Vmn2r118 C T 17: 55,918,565 (GRCm39) G109D probably benign Het
Vmn2r5 T A 3: 64,416,931 (GRCm39) M76L probably benign Het
Vwa3a A G 7: 120,389,365 (GRCm39) K68E possibly damaging Het
Zmiz1 A T 14: 25,650,237 (GRCm39) Y459F probably damaging Het
Other mutations in Dlg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Dlg2 APN 7 91,614,853 (GRCm39) missense probably damaging 1.00
IGL01111:Dlg2 APN 7 91,098,971 (GRCm39) missense possibly damaging 0.84
IGL01122:Dlg2 APN 7 92,091,816 (GRCm39) missense possibly damaging 0.58
IGL01296:Dlg2 APN 7 91,589,267 (GRCm39) missense probably damaging 1.00
IGL02063:Dlg2 APN 7 91,459,684 (GRCm39) splice site probably benign
IGL02233:Dlg2 APN 7 92,093,746 (GRCm39) missense probably damaging 1.00
IGL02519:Dlg2 APN 7 91,589,323 (GRCm39) missense possibly damaging 0.54
IGL02833:Dlg2 APN 7 92,080,335 (GRCm39) missense probably damaging 1.00
IGL03166:Dlg2 APN 7 91,549,938 (GRCm39) splice site probably benign
R0932:Dlg2 UTSW 7 92,024,845 (GRCm39) missense probably damaging 1.00
R1129:Dlg2 UTSW 7 92,080,382 (GRCm39) splice site probably null
R1245:Dlg2 UTSW 7 92,091,803 (GRCm39) splice site probably benign
R1319:Dlg2 UTSW 7 92,087,231 (GRCm39) missense probably damaging 0.98
R1464:Dlg2 UTSW 7 91,617,406 (GRCm39) missense probably damaging 1.00
R1464:Dlg2 UTSW 7 91,617,406 (GRCm39) missense probably damaging 1.00
R1596:Dlg2 UTSW 7 92,080,259 (GRCm39) missense probably damaging 0.99
R1650:Dlg2 UTSW 7 92,080,259 (GRCm39) missense probably damaging 0.99
R1868:Dlg2 UTSW 7 92,036,160 (GRCm39) nonsense probably null
R2006:Dlg2 UTSW 7 91,614,825 (GRCm39) missense possibly damaging 0.95
R2026:Dlg2 UTSW 7 91,614,931 (GRCm39) missense probably damaging 1.00
R2281:Dlg2 UTSW 7 92,087,249 (GRCm39) missense probably damaging 1.00
R3721:Dlg2 UTSW 7 91,361,008 (GRCm39) critical splice donor site probably null
R3722:Dlg2 UTSW 7 91,361,008 (GRCm39) critical splice donor site probably null
R3793:Dlg2 UTSW 7 91,459,743 (GRCm39) splice site probably benign
R4120:Dlg2 UTSW 7 91,614,846 (GRCm39) missense probably damaging 1.00
R4444:Dlg2 UTSW 7 91,737,801 (GRCm39) missense probably damaging 1.00
R4631:Dlg2 UTSW 7 91,737,822 (GRCm39) missense probably damaging 1.00
R4672:Dlg2 UTSW 7 91,935,743 (GRCm39) missense probably damaging 1.00
R4678:Dlg2 UTSW 7 92,077,788 (GRCm39) missense possibly damaging 0.89
R4695:Dlg2 UTSW 7 92,087,170 (GRCm39) splice site probably null
R5106:Dlg2 UTSW 7 92,091,894 (GRCm39) missense probably damaging 0.99
R5355:Dlg2 UTSW 7 91,099,011 (GRCm39) missense probably benign 0.41
R5403:Dlg2 UTSW 7 92,080,210 (GRCm39) missense probably damaging 1.00
R5504:Dlg2 UTSW 7 92,091,865 (GRCm39) missense probably damaging 1.00
R5569:Dlg2 UTSW 7 91,617,388 (GRCm39) missense probably benign 0.01
R5573:Dlg2 UTSW 7 91,646,532 (GRCm39) splice site probably null
R5848:Dlg2 UTSW 7 92,093,735 (GRCm39) missense probably benign 0.41
R5863:Dlg2 UTSW 7 91,360,987 (GRCm39) missense probably benign 0.01
R5907:Dlg2 UTSW 7 91,646,579 (GRCm39) intron probably benign
R6455:Dlg2 UTSW 7 92,093,716 (GRCm39) splice site probably null
R6486:Dlg2 UTSW 7 91,521,582 (GRCm39) critical splice acceptor site probably null
R6817:Dlg2 UTSW 7 91,614,872 (GRCm39) missense probably benign 0.07
R7082:Dlg2 UTSW 7 90,381,192 (GRCm39) missense probably benign
R7667:Dlg2 UTSW 7 92,087,364 (GRCm39) splice site probably null
R7808:Dlg2 UTSW 7 92,080,263 (GRCm39) missense probably benign 0.01
R7818:Dlg2 UTSW 7 91,589,225 (GRCm39) missense probably damaging 0.99
R7908:Dlg2 UTSW 7 91,549,981 (GRCm39) missense probably damaging 1.00
R7969:Dlg2 UTSW 7 92,066,466 (GRCm39) missense probably benign 0.22
R8157:Dlg2 UTSW 7 92,036,140 (GRCm39) missense probably damaging 1.00
R8174:Dlg2 UTSW 7 91,589,248 (GRCm39) missense probably benign 0.00
R8344:Dlg2 UTSW 7 92,087,222 (GRCm39) missense possibly damaging 0.84
R8428:Dlg2 UTSW 7 90,740,240 (GRCm39) missense possibly damaging 0.66
R8443:Dlg2 UTSW 7 92,024,875 (GRCm39) missense probably damaging 1.00
R8463:Dlg2 UTSW 7 91,617,441 (GRCm39) missense probably benign 0.16
R8487:Dlg2 UTSW 7 91,935,796 (GRCm39) missense probably damaging 1.00
R8501:Dlg2 UTSW 7 92,024,930 (GRCm39) missense probably damaging 1.00
R8894:Dlg2 UTSW 7 91,614,946 (GRCm39) missense probably benign 0.31
R8959:Dlg2 UTSW 7 90,501,927 (GRCm39) nonsense probably null
R9130:Dlg2 UTSW 7 92,080,258 (GRCm39) missense probably damaging 0.99
R9347:Dlg2 UTSW 7 91,360,900 (GRCm39) missense probably benign 0.00
R9424:Dlg2 UTSW 7 92,080,325 (GRCm39) missense probably damaging 0.99
R9617:Dlg2 UTSW 7 92,087,284 (GRCm39) critical splice donor site probably null
R9751:Dlg2 UTSW 7 90,564,731 (GRCm39) missense probably benign 0.00
RF004:Dlg2 UTSW 7 90,501,885 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCAAATGCATTTTACTGTGGC -3'
(R):5'- TTCATGGATGATGATAGATGCTGACAG -3'

Sequencing Primer
(F):5'- GCATTTTACTGTGGCAAGCTAC -3'
(R):5'- TATATGCCTCAGTACAGGGGAATGTC -3'
Posted On 2016-08-04