Incidental Mutation 'R2192:Dlg3'
Institutional Source Beutler Lab
Gene Symbol Dlg3
Ensembl Gene ENSMUSG00000000881
Gene Namediscs large MAGUK scaffold protein 3
SynonymsDlgh3, DLG3, SAP102
MMRRC Submission 040194-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.621) question?
Stock #R2192 (G1)
Quality Score222
Status Not validated
Chromosomal Location100767722-100818410 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 100774221 bp
Amino Acid Change Aspartic acid to Asparagine at position 379 (D379N)
Ref Sequence ENSEMBL: ENSMUSP00000000901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000901] [ENSMUST00000087984] [ENSMUST00000113735] [ENSMUST00000113736]
Predicted Effect probably damaging
Transcript: ENSMUST00000000901
AA Change: D379N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000901
Gene: ENSMUSG00000000881
AA Change: D379N

MAGUK_N_PEST 49 130 5.38e-8 SMART
PDZ 139 218 3.88e-21 SMART
PDZ 234 313 1.15e-23 SMART
PDZ 394 467 3.59e-25 SMART
low complexity region 484 495 N/A INTRINSIC
SH3 504 570 2.28e-11 SMART
GuKc 626 805 7.7e-76 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000087984
AA Change: D397N

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000085299
Gene: ENSMUSG00000000881
AA Change: D397N

MAGUK_N_PEST 49 148 5.74e-26 SMART
PDZ 157 236 3.88e-21 SMART
PDZ 252 331 1.15e-23 SMART
PDZ 412 485 3.59e-25 SMART
low complexity region 502 513 N/A INTRINSIC
SH3 522 588 2.28e-11 SMART
low complexity region 629 638 N/A INTRINSIC
GuKc 658 837 7.7e-76 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113735
SMART Domains Protein: ENSMUSP00000109364
Gene: ENSMUSG00000000881

low complexity region 8 33 N/A INTRINSIC
PDZ 57 130 3.59e-25 SMART
low complexity region 147 158 N/A INTRINSIC
SH3 167 233 2.28e-11 SMART
low complexity region 257 272 N/A INTRINSIC
low complexity region 292 301 N/A INTRINSIC
GuKc 321 500 7.7e-76 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000113736
AA Change: D397N

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109365
Gene: ENSMUSG00000000881
AA Change: D397N

MAGUK_N_PEST 49 148 5.74e-26 SMART
PDZ 157 236 3.88e-21 SMART
PDZ 252 331 1.15e-23 SMART
PDZ 412 485 3.59e-25 SMART
low complexity region 502 513 N/A INTRINSIC
SH3 522 588 2.28e-11 SMART
GuKc 644 823 7.7e-76 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151020
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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 membrane-associated guanylate kinase protein family. The encoded protein may play a role in clustering of NMDA receptors at excitatory synapses. It may also negatively regulate cell proliferation through interaction with the C-terminal region of the adenomatosis polyposis coli tumor suppressor protein. Mutations in this gene have been associated with X-linked mental retardation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]
PHENOTYPE: Male mice hemizygous for a knock-out allele show alterations in spatial learning, locomotor activation, LTP, and spike-timing-dependent plasticity. A portion of chimeras hemizygous for a gene trapped allele display forebrain deletion, posterior truncation, and failure to initiate embryo turning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A T 2: 131,561,369 M267K probably damaging Het
Aen T C 7: 78,906,045 probably null Het
AI464131 A G 4: 41,497,704 I642T probably damaging Het
Ano2 A G 6: 126,015,539 D825G probably damaging Het
Bdh2 T C 3: 135,295,264 S142P probably damaging Het
Celsr1 A G 15: 85,916,723 L2507P possibly damaging Het
Ces3a T C 8: 105,055,580 F308S probably benign Het
Chd4 T A 6: 125,105,357 M603K probably damaging Het
Cit T C 5: 115,968,009 V984A probably benign Het
Clstn3 A T 6: 124,459,207 D194E probably damaging Het
Ctdp1 T C 18: 80,449,481 R600G probably benign Het
Ctnnd1 C T 2: 84,609,563 G801D probably damaging Het
Dgkg A G 16: 22,588,299 F179L probably damaging Het
Drd2 G T 9: 49,403,271 R267S probably benign Het
Dsg1b T C 18: 20,409,618 *1061Q probably null Het
Dvl1 G A 4: 155,847,816 V28I possibly damaging Het
Edc3 T C 9: 57,713,543 V49A probably damaging Het
Ern1 G A 11: 106,409,924 T548I probably benign Het
Fam186a T C 15: 99,940,311 D2684G possibly damaging Het
Fam20a A G 11: 109,674,623 M454T probably benign Het
Fbp2 A G 13: 62,858,242 M19T possibly damaging Het
Frmd4b A T 6: 97,487,616 C47S probably damaging Het
Gm7173 C T X: 79,410,612 R1646Q probably damaging Het
Gtf2h1 T A 7: 46,815,323 I388N possibly damaging Het
Hectd4 T C 5: 121,315,143 V571A possibly damaging Het
Helz2 T A 2: 181,229,048 K2832* probably null Het
Herc1 T A 9: 66,465,406 D3081E probably damaging Het
Hmcn1 A T 1: 150,715,815 S1878T probably damaging Het
Iars A G 13: 49,688,129 probably null Het
Il17rd A T 14: 27,094,878 K180M probably damaging Het
Ints6l T A X: 56,504,750 H678Q probably benign Het
Khdrbs1 A G 4: 129,720,037 probably null Het
Lce3a A C 3: 92,925,530 S88A unknown Het
Lgals12 C T 19: 7,601,241 probably null Het
Lnpk T C 2: 74,569,029 T57A probably benign Het
Lrp2bp C T 8: 46,013,169 T105I probably benign Het
Lrrc4c C G 2: 97,629,312 N94K possibly damaging Het
Mag A T 7: 30,900,641 Y571* probably null Het
Mbd1 T A 18: 74,277,378 D583E probably damaging Het
Mill1 T A 7: 18,264,619 Y251* probably null Het
Mllt10 T C 2: 18,207,060 I928T probably benign Het
Ms4a18 T C 19: 11,013,665 T22A probably benign Het
Mtmr14 T C 6: 113,280,739 F250L probably damaging Het
Mtmr3 A T 11: 4,499,032 W244R probably damaging Het
Nat10 C A 2: 103,726,177 E885D probably benign Het
Nbeal1 T A 1: 60,281,895 L2055H probably damaging Het
Necab3 T A 2: 154,547,079 I192F possibly damaging Het
Nedd4 T A 9: 72,742,718 N783K probably damaging Het
Nf2 A T 11: 4,799,899 W61R probably damaging Het
Nox4 T A 7: 87,374,380 F491L probably benign Het
Olfr1104 A G 2: 87,022,511 V11A probably benign Het
Olfr1233 A T 2: 89,339,665 Y212* probably null Het
Olfr1262 T A 2: 90,002,430 I8N probably damaging Het
Omt2b G A 9: 78,328,175 probably benign Het
Osbpl5 A T 7: 143,693,859 Y723* probably null Het
Otop2 T C 11: 115,326,931 S198P possibly damaging Het
Pgam5 T G 5: 110,265,919 H126P probably damaging Het
Phip A T 9: 82,871,815 N1625K probably damaging Het
Phospho2 T A 2: 69,796,107 Y202* probably null Het
Pkd1l3 T A 8: 109,620,524 H176Q unknown Het
Plxdc2 A G 2: 16,565,336 R109G probably damaging Het
Prorsd1 T C 11: 29,513,592 K57E probably benign Het
Rnf150 A T 8: 82,864,391 R128W probably damaging Het
Samm50 G A 15: 84,200,424 probably null Het
Skint6 A T 4: 112,865,712 Y889* probably null Het
Slc35b1 T C 11: 95,385,814 Y40H probably damaging Het
Speg A G 1: 75,417,727 H1722R probably damaging Het
Suz12 T C 11: 80,022,198 L356P probably damaging Het
Tln2 T G 9: 67,355,221 I585L probably damaging Het
Trim2 G A 3: 84,190,918 Q359* probably null Het
Ttc28 T C 5: 111,223,496 Y635H probably damaging Het
Ttn C T 2: 76,713,205 E33146K probably damaging Het
Vcp G T 4: 42,982,547 T715K probably benign Het
Vmn1r230 T A 17: 20,847,093 N181K probably benign Het
Vmn2r17 T A 5: 109,434,278 M511K possibly damaging Het
Wdfy3 C T 5: 101,907,542 R1554Q possibly damaging Het
Zfp112 A T 7: 24,125,438 Q277L probably damaging Het
Zfp850 T C 7: 27,985,195 E42G probably damaging Het
Zfp976 G A 7: 42,613,271 P381S probably damaging Het
Zzef1 A T 11: 72,910,156 probably null Het
Other mutations in Dlg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Dlg3 APN X 100806593 missense probably damaging 0.99
IGL01287:Dlg3 APN X 100807242 missense possibly damaging 0.51
IGL02225:Dlg3 APN X 100807188 missense probably benign 0.01
IGL02377:Dlg3 APN X 100773401 missense possibly damaging 0.92
IGL03268:Dlg3 APN X 100809887 missense probably damaging 0.98
R4290:Dlg3 UTSW X 100796682 splice site probably benign
R4293:Dlg3 UTSW X 100796682 splice site probably benign
R4294:Dlg3 UTSW X 100796682 splice site probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On2014-10-02