Incidental Mutation 'IGL02833:Dlg2'
ID 361516
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02833
Quality Score
Status
Chromosome 7
Chromosomal Location 90125880-92098455 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92080335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 841 (L841F)
Ref Sequence ENSEMBL: ENSMUSP00000155862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074273] [ENSMUST00000098308] [ENSMUST00000107193] [ENSMUST00000107196] [ENSMUST00000231777]
AlphaFold Q91XM9
Predicted Effect probably damaging
Transcript: ENSMUST00000074273
AA Change: L754F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073885
Gene: ENSMUSG00000052572
AA Change: L754F

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 probably damaging
Transcript: ENSMUST00000098308
AA Change: L365F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095910
Gene: ENSMUSG00000052572
AA Change: L365F

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 probably damaging
Transcript: ENSMUST00000107193
AA Change: L639F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102811
Gene: ENSMUSG00000052572
AA Change: L639F

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: L736F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102814
Gene: ENSMUSG00000052572
AA Change: L736F

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: ENSMUST00000135581
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138389
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208377
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207187
Predicted Effect probably damaging
Transcript: ENSMUST00000231777
AA Change: L841F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache A G 5: 137,289,371 (GRCm39) probably benign Het
Atr A T 9: 95,744,905 (GRCm39) H74L probably damaging Het
Brca2 A T 5: 150,465,255 (GRCm39) H1673L possibly damaging Het
Brwd1 A T 16: 95,853,771 (GRCm39) I495K probably damaging Het
Cacna1s A T 1: 135,998,743 (GRCm39) I213F probably benign Het
Cds1 T C 5: 101,962,332 (GRCm39) S316P possibly damaging Het
Ces1b G A 8: 93,806,038 (GRCm39) P68S probably damaging Het
Cilp A G 9: 65,185,206 (GRCm39) I434V probably benign Het
Csgalnact2 A G 6: 118,106,229 (GRCm39) Y30H probably damaging Het
Defb7 T C 8: 19,545,140 (GRCm39) V6A probably benign Het
Dnajc14 A G 10: 128,642,468 (GRCm39) N130S possibly damaging Het
Dock7 T A 4: 98,833,732 (GRCm39) D1863V probably damaging Het
Dsp A G 13: 38,376,897 (GRCm39) R1561G possibly damaging Het
Fads2b G T 2: 85,332,551 (GRCm39) R158S possibly damaging Het
Gstt4 G T 10: 75,658,174 (GRCm39) F28L probably damaging Het
Hectd1 G T 12: 51,810,864 (GRCm39) D1690E probably damaging Het
Hspg2 T C 4: 137,282,441 (GRCm39) S3394P probably benign Het
Ift25 T C 4: 107,132,492 (GRCm39) probably benign Het
Igf2r A T 17: 12,911,610 (GRCm39) C1910S probably damaging Het
Jakmip2 T C 18: 43,708,516 (GRCm39) probably benign Het
Katnip A T 7: 125,449,584 (GRCm39) R883* probably null Het
Kif1b C T 4: 149,330,821 (GRCm39) V612M probably damaging Het
Lrrd1 A G 5: 3,900,709 (GRCm39) E338G probably damaging Het
Mmp9 C A 2: 164,791,723 (GRCm39) D205E probably damaging Het
Mylk A T 16: 34,735,270 (GRCm39) H750L probably benign Het
Naip6 A G 13: 100,436,121 (GRCm39) S801P probably damaging Het
Nlrp1b A T 11: 71,051,998 (GRCm39) M980K probably benign Het
Or14j1 G A 17: 38,146,831 (GRCm39) V314I probably benign Het
Or2y3 T C 17: 38,393,243 (GRCm39) K209E possibly damaging Het
Or5d43 C A 2: 88,104,776 (GRCm39) V206F probably benign Het
Or6c88 A G 10: 129,406,619 (GRCm39) T32A probably benign Het
Pdk1 A G 2: 71,727,989 (GRCm39) probably null Het
Pex7 A G 10: 19,770,500 (GRCm39) S125P probably damaging Het
Pigu T C 2: 155,187,565 (GRCm39) probably benign Het
Prr16 T A 18: 51,436,164 (GRCm39) H214Q probably damaging Het
Psme4 C T 11: 30,800,715 (GRCm39) probably benign Het
Sf3b3 A G 8: 111,538,609 (GRCm39) probably null Het
Sp4 T C 12: 118,225,616 (GRCm39) I583V probably benign Het
Spata22 A G 11: 73,234,569 (GRCm39) T224A probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tmem119 T A 5: 113,933,432 (GRCm39) Y123F probably damaging Het
Umps A T 16: 33,782,523 (GRCm39) L133* probably null Het
Usp46 T A 5: 74,177,343 (GRCm39) T179S probably benign Het
Vtcn1 T A 3: 100,795,701 (GRCm39) Y223N probably damaging Het
Wiz A G 17: 32,576,853 (GRCm39) M567T 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
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
R5385:Dlg2 UTSW 7 91,737,784 (GRCm39) missense probably damaging 0.96
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
Posted On 2015-12-18