Incidental Mutation 'R0932:Dlg2'
ID 80972
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
MMRRC Submission 039076-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0932 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 90125880-92098455 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92024845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 675 (V675A)
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: V570A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073885
Gene: ENSMUSG00000052572
AA Change: V570A

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: V167A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095910
Gene: ENSMUSG00000052572
AA Change: V167A

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: V473A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102811
Gene: ENSMUSG00000052572
AA Change: V473A

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: V570A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102814
Gene: ENSMUSG00000052572
AA Change: V570A

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: ENSMUST00000208377
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207798
Predicted Effect probably damaging
Transcript: ENSMUST00000231777
AA Change: V675A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.9309 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.1%
  • 10x: 98.2%
  • 20x: 97.1%
Validation Efficiency 100% (42/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T C 16: 90,852,995 (GRCm39) N47S probably benign Het
AA986860 T C 1: 130,665,430 (GRCm39) probably null Het
Akap9 T A 5: 4,096,492 (GRCm39) C2456S possibly damaging Het
Anks3 C T 16: 4,771,691 (GRCm39) R111H probably damaging Het
Atp1a3 A T 7: 24,687,401 (GRCm39) probably null Het
Bahd1 T C 2: 118,746,408 (GRCm39) L9P probably damaging Het
Capn12 T C 7: 28,587,123 (GRCm39) V364A possibly damaging Het
Cds1 T A 5: 101,944,891 (GRCm39) C122S probably damaging Het
Cenpc1 T C 5: 86,185,459 (GRCm39) T351A possibly damaging Het
Cuzd1 T C 7: 130,921,923 (GRCm39) probably benign Het
Daxx T C 17: 34,129,635 (GRCm39) L72P probably damaging Het
Depdc1b A G 13: 108,523,369 (GRCm39) I415V probably benign Het
Dtx4 A G 19: 12,469,515 (GRCm39) V204A probably benign Het
Ganc T C 2: 120,288,610 (GRCm39) V872A probably damaging Het
Gm14403 A T 2: 177,198,810 (GRCm39) R38W probably benign Het
Gm4553 T C 7: 141,719,423 (GRCm39) S2G unknown Het
Gm8159 G A 14: 4,635,226 (GRCm38) R148H possibly damaging Het
Gsdmc3 T C 15: 63,730,400 (GRCm39) probably null Het
Ibtk C T 9: 85,617,099 (GRCm39) G158R probably damaging Het
Irx2 T A 13: 72,779,675 (GRCm39) S320T possibly damaging Het
Kctd7 A T 5: 130,180,510 (GRCm39) probably null Het
Kdr T C 5: 76,129,465 (GRCm39) T141A probably benign Het
Krt25 T A 11: 99,212,109 (GRCm39) Q176L possibly damaging Het
Krt71 T C 15: 101,645,195 (GRCm39) N372S probably benign Het
Mllt3 A G 4: 87,707,621 (GRCm39) V446A probably damaging Het
Or1j21 T A 2: 36,683,903 (GRCm39) Y218* probably null Het
Or4k38 A T 2: 111,165,543 (GRCm39) D293E probably benign Het
Or5p4 C T 7: 107,680,727 (GRCm39) T242M probably damaging Het
Or5p52 A C 7: 107,502,397 (GRCm39) T158P possibly damaging Het
Or9e1 T C 11: 58,732,540 (GRCm39) V200A possibly damaging Het
Poldip2 T C 11: 78,403,294 (GRCm39) S18P possibly damaging Het
Ptprd T G 4: 76,055,122 (GRCm39) Q193P probably damaging Het
Reck C T 4: 43,922,838 (GRCm39) T371M possibly damaging Het
Rnf144b G T 13: 47,374,001 (GRCm39) R66L probably null Het
Rpn2 T A 2: 157,125,691 (GRCm39) D67E possibly damaging Het
Scn11a A G 9: 119,636,876 (GRCm39) F275S probably damaging Het
Slc12a5 G A 2: 164,838,805 (GRCm39) probably benign Het
Snapc4 A G 2: 26,264,658 (GRCm39) I253T probably damaging Het
Tppp2 C T 14: 52,157,881 (GRCm39) probably benign Het
Usp9y A C Y: 1,315,930 (GRCm39) N2068K probably benign Het
Vmn2r45 A G 7: 8,478,380 (GRCm39) C536R 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
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
Predicted Primers PCR Primer
(F):5'- CATAATCCAGGAAGCCATGCAGGAG -3'
(R):5'- TTGCATTTAGCTGCCAGGAGCC -3'

Sequencing Primer
(F):5'- AGCCATGCAGGAGATGATG -3'
(R):5'- ACACTCTCAGCCTTcctctcc -3'
Posted On 2013-11-07