Incidental Mutation 'R4910:Dlg4'
ID 379431
Institutional Source Beutler Lab
Gene Symbol Dlg4
Ensembl Gene ENSMUSG00000020886
Gene Name discs large MAGUK scaffold protein 4
Synonyms SAP90, PSD-95, Dlgh4, SAP90A, PSD95
MMRRC Submission 042512-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4910 (G1)
Quality Score 146
Status Validated
Chromosome 11
Chromosomal Location 69908029-69938107 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69921751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 30 (D30G)
Ref Sequence ENSEMBL: ENSMUSP00000156246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018700] [ENSMUST00000108588] [ENSMUST00000108589] [ENSMUST00000123687] [ENSMUST00000124568] [ENSMUST00000134376] [ENSMUST00000132597] [ENSMUST00000133140] [ENSMUST00000135916] [ENSMUST00000231628] [ENSMUST00000231452] [ENSMUST00000232002] [ENSMUST00000231221] [ENSMUST00000231415] [ENSMUST00000143920] [ENSMUST00000231506] [ENSMUST00000232266] [ENSMUST00000232115]
AlphaFold Q62108
Predicted Effect probably damaging
Transcript: ENSMUST00000018700
AA Change: D30G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018700
Gene: ENSMUSG00000020886
AA Change: D30G

DomainStartEndE-ValueType
MAGUK_N_PEST 10 64 1.36e-4 SMART
PDZ 73 152 3.38e-21 SMART
PDZ 168 247 1.12e-21 SMART
PDZ 321 394 4.13e-25 SMART
SH3 431 497 1.68e-9 SMART
GuKc 533 712 3.65e-68 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000108586
Predicted Effect probably damaging
Transcript: ENSMUST00000108588
AA Change: D90G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104229
Gene: ENSMUSG00000020886
AA Change: D90G

DomainStartEndE-ValueType
MAGUK_N_PEST 10 61 1e-7 SMART
PDZ 70 149 3.38e-21 SMART
PDZ 165 244 1.12e-21 SMART
PDZ 318 391 4.13e-25 SMART
SH3 428 494 1.68e-9 SMART
GuKc 530 709 3.65e-68 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108589
AA Change: D133G

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104230
Gene: ENSMUSG00000020886
AA Change: D133G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
MAGUK_N_PEST 53 107 1.36e-4 SMART
PDZ 116 195 3.38e-21 SMART
PDZ 211 290 1.12e-21 SMART
PDZ 364 437 4.13e-25 SMART
SH3 474 540 1.68e-9 SMART
GuKc 576 755 3.65e-68 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000123687
AA Change: D133G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134545
Gene: ENSMUSG00000020886
AA Change: D133G

DomainStartEndE-ValueType
SH3 11 77 1.68e-9 SMART
GuKc 113 205 7.37e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000124568
AA Change: D94G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000121053
Gene: ENSMUSG00000020886
AA Change: D94G

DomainStartEndE-ValueType
low complexity region 9 36 N/A INTRINSIC
MAGUK_N_PEST 69 123 7.67e-4 SMART
Pfam:PDZ 124 185 7.6e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138004
Predicted Effect probably damaging
Transcript: ENSMUST00000134376
AA Change: D120G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115206
Gene: ENSMUSG00000020886
AA Change: D120G

DomainStartEndE-ValueType
MAGUK_N_PEST 10 97 3.39e-37 SMART
PDZ 106 165 1.79e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132597
AA Change: D62G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000114165
Gene: ENSMUSG00000020886
AA Change: D62G

DomainStartEndE-ValueType
Pfam:MAGUK_N_PEST 2 43 5.8e-13 PFAM
PDZ 52 131 3.38e-21 SMART
PDZ 147 226 1.12e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133140
SMART Domains Protein: ENSMUSP00000126707
Gene: ENSMUSG00000020886

DomainStartEndE-ValueType
PDZ 13 92 3.38e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135916
AA Change: D30G

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000135994
Gene: ENSMUSG00000020886
AA Change: D30G

DomainStartEndE-ValueType
Pfam:PDZ 5 51 6.3e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000231628
AA Change: D30G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000231452
AA Change: D30G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000232002
AA Change: D68G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000231221
AA Change: D87G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000231415
AA Change: D87G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000143920
AA Change: D30G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000231506
AA Change: D130G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000232659
AA Change: D87G

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000232266
AA Change: D59G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably damaging
Transcript: ENSMUST00000232115
AA Change: D30G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.2820 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.6%
  • 20x: 86.1%
Validation Efficiency 95% (144/151)
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. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins 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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit severely impaired spatial learning, alterations in long-term potentiation and depression, and lack of hyperalgesia responses in a neuropathic pain model. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 123 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T A 3: 59,776,435 (GRCm39) probably null Het
Adam3 T A 8: 25,184,321 (GRCm39) I560L probably benign Het
Agxt T C 1: 93,063,436 (GRCm39) F113L probably benign Het
Aknad1 T A 3: 108,688,568 (GRCm39) probably null Het
Alpk2 T A 18: 65,399,357 (GRCm39) K2074* probably null Het
Apob A G 12: 8,057,848 (GRCm39) Y2077C probably damaging Het
Arhgap17 A T 7: 122,907,600 (GRCm39) L254Q probably damaging Het
Arhgap26 T A 18: 39,126,690 (GRCm39) probably benign Het
Arhgef5 A G 6: 43,249,762 (GRCm39) D171G probably benign Het
Arid1b T A 17: 5,392,478 (GRCm39) S2003T probably damaging Het
Armc5 T G 7: 127,839,900 (GRCm39) L406R possibly damaging Het
Arsb T C 13: 93,908,485 (GRCm39) V67A probably benign Het
Aspm A G 1: 139,419,281 (GRCm39) Y2982C probably damaging Het
Bltp1 C A 3: 37,052,348 (GRCm39) T3016K probably damaging Het
Btbd7 A G 12: 102,774,307 (GRCm39) L487P probably damaging Het
Card11 C G 5: 140,860,169 (GRCm39) D1063H probably damaging Het
Ccdc186 G A 19: 56,787,123 (GRCm39) T615M probably damaging Het
Cd101 T A 3: 100,901,205 (GRCm39) T960S probably benign Het
Cdca7l C A 12: 117,837,520 (GRCm39) S191* probably null Het
Cemip A T 7: 83,646,619 (GRCm39) I143N probably damaging Het
Cep170 C T 1: 176,609,829 (GRCm39) E161K possibly damaging Het
Cfhr4 T G 1: 139,702,301 (GRCm39) D61A probably damaging Het
Chrm2 A T 6: 36,501,168 (GRCm39) T342S probably benign Het
Cib2 A G 9: 54,457,163 (GRCm39) F34L probably benign Het
Cnot1 A T 8: 96,459,859 (GRCm39) I1836N probably benign Het
Col4a3 C A 1: 82,650,400 (GRCm39) P552Q unknown Het
Cp T A 3: 20,043,388 (GRCm39) probably benign Het
Cul3 C T 1: 80,267,806 (GRCm39) V112I probably benign Het
Dcdc5 A G 2: 106,195,895 (GRCm39) noncoding transcript Het
Disp1 A T 1: 182,917,027 (GRCm39) V133E probably damaging Het
Dop1a C T 9: 86,374,114 (GRCm39) T191I probably damaging Het
Enam T G 5: 88,650,173 (GRCm39) S561A probably benign Het
Fbxw8 G T 5: 118,263,092 (GRCm39) probably null Het
Filip1 A G 9: 79,725,214 (GRCm39) V1135A probably benign Het
Galnt6 T C 15: 100,614,059 (GRCm39) T81A probably benign Het
Ghdc T C 11: 100,657,814 (GRCm39) K472E probably benign Het
Gm10568 T G 1: 3,751,164 (GRCm39) noncoding transcript Het
Gm4953 T A 1: 158,995,929 (GRCm39) noncoding transcript Het
Gm6871 T A 7: 41,223,016 (GRCm39) H24L probably benign Het
Gpr155 G A 2: 73,197,882 (GRCm39) Q413* probably null Het
Grhl2 A G 15: 37,291,920 (GRCm39) probably null Het
Ighv1-31 G C 12: 114,793,128 (GRCm39) S36* probably null Het
Ighv8-5 A G 12: 115,031,462 (GRCm39) S26P probably damaging Het
Igkv17-134 A C 6: 67,697,910 (GRCm39) probably benign Het
Igkv5-48 A C 6: 69,703,833 (GRCm39) L24R probably damaging Het
Isg20l2 T A 3: 87,846,570 (GRCm39) V340E probably damaging Het
Lrrtm1 A G 6: 77,221,884 (GRCm39) Y447C probably damaging Het
Ltbp1 T C 17: 75,634,287 (GRCm39) S855P probably damaging Het
Mgat4e A T 1: 134,469,602 (GRCm39) N147K probably damaging Het
Mlc1 A G 15: 88,842,415 (GRCm39) L315P possibly damaging Het
Mrgpra2a A G 7: 47,076,292 (GRCm39) V322A probably benign Het
Mroh7 T C 4: 106,567,152 (GRCm39) probably null Het
Mybpc1 T A 10: 88,391,586 (GRCm39) K304* probably null Het
Nlrp14 A C 7: 106,785,790 (GRCm39) D622A possibly damaging Het
Nlrp1b T A 11: 71,108,103 (GRCm39) H466L probably benign Het
Nlrp4d T A 7: 10,112,336 (GRCm39) noncoding transcript Het
Nrxn3 A G 12: 89,227,130 (GRCm39) E628G possibly damaging Het
Nup133 T C 8: 124,653,870 (GRCm39) R530G possibly damaging Het
Nup98 A G 7: 101,845,007 (GRCm39) S21P unknown Het
Or2h2b-ps1 T C 17: 37,480,934 (GRCm39) I202V probably benign Het
Or2l13b T C 16: 19,348,768 (GRCm39) T301A probably benign Het
Or4f14b A T 2: 111,775,423 (GRCm39) I126K possibly damaging Het
Or52e8 G A 7: 104,624,686 (GRCm39) P169S possibly damaging Het
Or5k1 T A 16: 58,617,805 (GRCm39) T135S probably benign Het
Or6c66 T C 10: 129,461,676 (GRCm39) T85A probably damaging Het
Or8c11 T A 9: 38,290,038 (GRCm39) V287E probably null Het
Otog A T 7: 45,913,486 (GRCm39) Y773F probably damaging Het
Otog A T 7: 45,947,958 (GRCm39) I2320F probably damaging Het
Otogl T C 10: 107,715,378 (GRCm39) S433G probably benign Het
Pcdhb17 A T 18: 37,618,212 (GRCm39) M1L possibly damaging Het
Pde7b T A 10: 20,600,480 (GRCm39) probably benign Het
Pgm1 T C 4: 99,820,724 (GRCm39) V207A probably damaging Het
Pkd1 T A 17: 24,791,661 (GRCm39) V1116E probably damaging Het
Pkd1l1 T A 11: 8,879,360 (GRCm39) Y497F possibly damaging Het
Pomgnt2 T C 9: 121,812,013 (GRCm39) N256S probably benign Het
Pot1a A T 6: 25,746,020 (GRCm39) probably benign Het
Prdm9 T C 17: 15,764,585 (GRCm39) T732A probably benign Het
Prg4 T A 1: 150,331,574 (GRCm39) probably benign Het
Ptpro T C 6: 137,345,336 (GRCm39) V114A probably damaging Het
Pyurf A G 6: 57,668,933 (GRCm39) S20P unknown Het
Rasgrf1 A G 9: 89,858,805 (GRCm39) T488A probably benign Het
Rassf8 A T 6: 145,761,006 (GRCm39) K111* probably null Het
Reps1 A T 10: 17,983,436 (GRCm39) E426D probably damaging Het
Robo2 T C 16: 73,730,666 (GRCm39) K982R probably damaging Het
Rps23 T C 13: 91,071,871 (GRCm39) probably null Het
Scamp4 T A 10: 80,445,505 (GRCm39) V56E probably damaging Het
Serpina1c C T 12: 103,861,291 (GRCm39) V408I probably benign Het
Sigirr A G 7: 140,673,701 (GRCm39) W49R probably damaging Het
Slc17a6 A T 7: 51,308,489 (GRCm39) H271L possibly damaging Het
Slc7a5 G T 8: 122,611,861 (GRCm39) T389K probably damaging Het
Slf1 T A 13: 77,191,999 (GRCm39) H945L probably benign Het
Slit3 T C 11: 35,523,549 (GRCm39) S662P probably damaging Het
Snta1 C A 2: 154,218,938 (GRCm39) E466* probably null Het
Sowaha A G 11: 53,369,272 (GRCm39) L488P probably damaging Het
Spata17 C A 1: 186,926,208 (GRCm39) V41F probably damaging Het
Spta1 T A 1: 174,045,429 (GRCm39) probably null Het
Srrm2 T A 17: 24,034,362 (GRCm39) probably benign Het
Stard13 T C 5: 150,985,992 (GRCm39) N388S probably benign Het
Stmn3 T C 2: 180,950,630 (GRCm39) K59E probably damaging Het
Sval1 A G 6: 41,932,378 (GRCm39) N76S probably benign Het
Svep1 T C 4: 58,096,276 (GRCm39) H1448R possibly damaging Het
Sycp2 A T 2: 178,000,017 (GRCm39) D986E probably benign Het
Sytl5 C T X: 9,781,841 (GRCm39) P181L possibly damaging Het
Tbkbp1 G A 11: 97,029,956 (GRCm39) S400L probably benign Het
Tesc G T 5: 118,194,531 (GRCm39) probably benign Het
Tjp1 C T 7: 64,993,475 (GRCm39) G33R probably damaging Het
Tlr11 C A 14: 50,600,346 (GRCm39) F777L probably benign Het
Tmem156 A G 5: 65,248,805 (GRCm39) probably benign Het
Top3a A G 11: 60,643,204 (GRCm39) probably benign Het
Tpcn1 A G 5: 120,694,584 (GRCm39) W162R probably damaging Het
Tpd52l2 A T 2: 181,157,005 (GRCm39) probably benign Het
Trim80 G A 11: 115,337,281 (GRCm39) G381D probably damaging Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Vmn2r117 TC T 17: 23,698,487 (GRCm39) probably null Het
Vmn2r56 T A 7: 12,449,462 (GRCm39) I259F possibly damaging Het
Vmn2r59 T C 7: 41,693,077 (GRCm39) T508A probably benign Het
Wdr73 A G 7: 80,541,456 (GRCm39) V362A probably damaging Het
Zdhhc21 G T 4: 82,738,568 (GRCm39) T207K possibly damaging Het
Zfp120 T A 2: 149,959,872 (GRCm39) Q150L probably damaging Het
Zfp212 C A 6: 47,908,433 (GRCm39) Q471K possibly damaging Het
Zfp804b C T 5: 6,820,540 (GRCm39) G841D possibly damaging Het
Znfx1 A T 2: 166,878,724 (GRCm39) M1884K probably damaging Het
Znfx1 G T 2: 166,879,402 (GRCm39) A1658D probably benign Het
Other mutations in Dlg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01753:Dlg4 APN 11 69,932,173 (GRCm39) missense probably damaging 1.00
IGL02260:Dlg4 APN 11 69,933,093 (GRCm39) missense probably damaging 1.00
IGL03097:Dlg4 UTSW 11 69,933,028 (GRCm39) missense probably damaging 1.00
R0103:Dlg4 UTSW 11 69,922,019 (GRCm39) missense probably damaging 1.00
R0103:Dlg4 UTSW 11 69,922,019 (GRCm39) missense probably damaging 1.00
R0628:Dlg4 UTSW 11 69,922,610 (GRCm39) missense probably damaging 1.00
R0734:Dlg4 UTSW 11 69,933,531 (GRCm39) missense probably damaging 1.00
R1587:Dlg4 UTSW 11 69,922,572 (GRCm39) missense possibly damaging 0.88
R1946:Dlg4 UTSW 11 69,930,401 (GRCm39) missense probably damaging 1.00
R2190:Dlg4 UTSW 11 69,933,430 (GRCm39) missense probably damaging 1.00
R2259:Dlg4 UTSW 11 69,922,196 (GRCm39) missense probably damaging 1.00
R2289:Dlg4 UTSW 11 69,917,752 (GRCm39) missense probably damaging 1.00
R2411:Dlg4 UTSW 11 69,932,755 (GRCm39) critical splice donor site probably null
R3161:Dlg4 UTSW 11 69,908,051 (GRCm39) missense probably damaging 0.99
R4059:Dlg4 UTSW 11 69,917,909 (GRCm39) missense probably benign
R4782:Dlg4 UTSW 11 69,917,780 (GRCm39) missense probably damaging 1.00
R5077:Dlg4 UTSW 11 69,917,852 (GRCm39) missense possibly damaging 0.71
R5557:Dlg4 UTSW 11 69,933,106 (GRCm39) missense probably damaging 1.00
R5996:Dlg4 UTSW 11 69,908,057 (GRCm39) missense probably benign 0.00
R6649:Dlg4 UTSW 11 69,914,779 (GRCm39) unclassified probably benign
R6653:Dlg4 UTSW 11 69,914,779 (GRCm39) unclassified probably benign
R7155:Dlg4 UTSW 11 69,908,042 (GRCm39) start codon destroyed probably null 0.00
R7284:Dlg4 UTSW 11 69,932,908 (GRCm39) nonsense probably null
R7683:Dlg4 UTSW 11 69,930,680 (GRCm39) missense possibly damaging 0.95
R7976:Dlg4 UTSW 11 69,930,008 (GRCm39) missense probably damaging 0.99
R8051:Dlg4 UTSW 11 69,922,468 (GRCm39) unclassified probably benign
R8408:Dlg4 UTSW 11 69,933,078 (GRCm39) missense possibly damaging 0.81
R8431:Dlg4 UTSW 11 69,930,388 (GRCm39) missense probably benign 0.36
R9283:Dlg4 UTSW 11 69,922,617 (GRCm39) nonsense probably null
R9451:Dlg4 UTSW 11 69,922,065 (GRCm39) missense probably damaging 1.00
Z1088:Dlg4 UTSW 11 69,921,956 (GRCm39) missense probably damaging 1.00
Z1176:Dlg4 UTSW 11 69,932,746 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACTGTCCGTGTGCGTTCTAG -3'
(R):5'- ACTGCAGCTGAATGGGTCAC -3'

Sequencing Primer
(F):5'- AGTCGCACTTCTCGAACCTG -3'
(R):5'- CAAACAGGATGCTGTCGTTGACC -3'
Posted On 2016-04-15