Incidental Mutation 'R7808:Dlg2'
ID 600938
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 045863-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7808 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 90125880-92098455 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 92080263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 712 (I712M)
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 benign
Transcript: ENSMUST00000074273
AA Change: I730M

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000073885
Gene: ENSMUSG00000052572
AA Change: I730M

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 benign
Transcript: ENSMUST00000098308
AA Change: I341M

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000095910
Gene: ENSMUSG00000052572
AA Change: I341M

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 benign
Transcript: ENSMUST00000107193
AA Change: I615M

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102811
Gene: ENSMUSG00000052572
AA Change: I615M

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 benign
Transcript: ENSMUST00000107196
AA Change: I712M

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000102814
Gene: ENSMUSG00000052572
AA Change: I712M

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 probably benign
Transcript: ENSMUST00000231777
AA Change: I817M

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 99% (86/87)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 86,957,297 (GRCm39) V11A probably benign Het
Abca12 A T 1: 71,313,793 (GRCm39) probably null Het
Abcc12 T A 8: 87,234,568 (GRCm39) M1232L probably benign Het
Adamts1 T C 16: 85,597,117 (GRCm39) Y314C probably damaging Het
Adgb A G 10: 10,254,403 (GRCm39) probably null Het
Ankrd12 T A 17: 66,292,648 (GRCm39) K928N possibly damaging Het
Ano5 A T 7: 51,237,543 (GRCm39) K789I possibly damaging Het
Cacna1d G T 14: 29,833,026 (GRCm39) N938K probably damaging Het
Camk1g T C 1: 193,032,593 (GRCm39) R273G possibly damaging Het
Caprin2 C A 6: 148,744,528 (GRCm39) V966F probably damaging Het
Card6 T C 15: 5,128,954 (GRCm39) H814R probably benign Het
Cenatac T C 9: 44,324,215 (GRCm39) Q228R probably null Het
Cflar A G 1: 58,750,740 (GRCm39) probably benign Het
Cftr T A 6: 18,204,204 (GRCm39) N66K probably benign Het
Clasrp C T 7: 19,322,671 (GRCm39) probably null Het
Clec4a4 T C 6: 122,967,339 (GRCm39) I5T probably damaging Het
Cmtr2 T C 8: 110,948,251 (GRCm39) I187T possibly damaging Het
Cnga1 A T 5: 72,761,616 (GRCm39) F633I possibly damaging Het
Col16a1 C T 4: 129,967,057 (GRCm39) P909S unknown Het
Csf1 C A 3: 107,667,361 (GRCm39) A7S possibly damaging Het
Cstpp1 T C 2: 91,274,939 (GRCm39) probably benign Het
Dhx30 A T 9: 109,915,270 (GRCm39) V833D probably benign Het
Dmxl1 T A 18: 50,011,382 (GRCm39) F1180I probably benign Het
Dnah9 T A 11: 65,896,631 (GRCm39) K2398* probably null Het
Dus1l C T 11: 120,680,262 (GRCm39) G471D possibly damaging Het
Dync1h1 A T 12: 110,621,893 (GRCm39) N3412I possibly damaging Het
Dync1i2 T A 2: 71,081,178 (GRCm39) probably null Het
Dysf T C 6: 84,047,911 (GRCm39) S333P possibly damaging Het
Eed A T 7: 89,605,541 (GRCm39) N349K probably benign Het
Eipr1 A T 12: 28,816,769 (GRCm39) probably null Het
Fbxw16 A C 9: 109,277,222 (GRCm39) V40G probably damaging Het
Fgfr4 A C 13: 55,308,969 (GRCm39) R363S possibly damaging Het
Fgl2 A T 5: 21,578,229 (GRCm39) N172I possibly damaging Het
Fhip1b G A 7: 105,033,732 (GRCm39) R509C probably damaging Het
Gabbr2 T A 4: 46,875,744 (GRCm39) H126L possibly damaging Het
Gcnt2 A T 13: 41,014,338 (GRCm39) N170Y possibly damaging Het
Gpt A G 15: 76,583,093 (GRCm39) probably null Het
Igsf10 A G 3: 59,235,489 (GRCm39) I1564T probably benign Het
Il22ra1 C A 4: 135,478,107 (GRCm39) Q393K possibly damaging Het
Inpp5d A T 1: 87,611,567 (GRCm39) K340* probably null Het
Jcad A G 18: 4,673,113 (GRCm39) K292E probably damaging Het
Krt5 T A 15: 101,617,453 (GRCm39) T427S probably benign Het
Krt76 T C 15: 101,798,929 (GRCm39) D252G probably damaging Het
Krtap26-1 A G 16: 88,444,198 (GRCm39) V141A not run Het
Lce6a A T 3: 92,527,642 (GRCm39) V55D probably benign Het
Lpxn C T 19: 12,802,185 (GRCm39) S170F possibly damaging Het
Magi2 T C 5: 20,670,838 (GRCm39) V394A probably benign Het
Mbnl1 G A 3: 60,522,242 (GRCm39) probably null Het
Med16 T A 10: 79,734,252 (GRCm39) K554M probably damaging Het
Mettl14 T C 3: 123,166,234 (GRCm39) D276G possibly damaging Het
Mphosph9 T C 5: 124,399,009 (GRCm39) D1002G probably damaging Het
Mroh9 T C 1: 162,866,678 (GRCm39) E686G probably damaging Het
Nav1 T C 1: 135,379,986 (GRCm39) Y1512C unknown Het
Neb T C 2: 52,082,035 (GRCm39) Y5712C probably damaging Het
Nek7 T A 1: 138,489,509 (GRCm39) probably benign Het
Nptx1 T A 11: 119,435,462 (GRCm39) I285F probably damaging Het
Oas1d G T 5: 121,053,034 (GRCm39) E30* probably null Het
Or1p1b A T 11: 74,130,725 (GRCm39) I112F probably damaging Het
Or51g2 A G 7: 102,622,317 (GRCm39) V294A possibly damaging Het
Or6n1 C A 1: 173,917,417 (GRCm39) Y270* probably null Het
Parp4 T G 14: 56,873,205 (GRCm39) S1150A possibly damaging Het
Pinx1 A T 14: 64,156,741 (GRCm39) K223* probably null Het
Plekha5 T C 6: 140,529,640 (GRCm39) L1034S probably damaging Het
Ppp4r3a A G 12: 101,019,755 (GRCm39) V400A possibly damaging Het
Prtg A T 9: 72,749,979 (GRCm39) I128F possibly damaging Het
Rars1 T C 11: 35,719,534 (GRCm39) E96G probably benign Het
Rhpn1 T A 15: 75,585,299 (GRCm39) S551T probably benign Het
Selenow C T 7: 15,656,176 (GRCm39) probably null Het
Serpina9 A T 12: 103,967,484 (GRCm39) probably null Het
Shank3 A T 15: 89,433,083 (GRCm39) D1276V probably damaging Het
Slc27a6 A G 18: 58,742,267 (GRCm39) T494A probably damaging Het
Slc34a1 A C 13: 24,003,317 (GRCm39) H285P probably damaging Het
Slc6a21 A C 7: 44,932,360 (GRCm39) T54P Het
Syne2 A G 12: 76,030,501 (GRCm39) probably null Het
Tal1 T C 4: 114,925,489 (GRCm39) V186A probably benign Het
Tars3 A G 7: 65,302,009 (GRCm39) K178E probably benign Het
Tex10 T A 4: 48,459,984 (GRCm39) I456L probably benign Het
Tfcp2 A G 15: 100,420,310 (GRCm39) F175S probably damaging Het
Timp2 C T 11: 118,194,626 (GRCm39) A188T probably damaging Het
Tmc5 T A 7: 118,268,440 (GRCm39) I836N probably damaging Het
Tmem100 T A 11: 89,926,302 (GRCm39) M43K probably benign Het
Ulk2 A G 11: 61,745,378 (GRCm39) Y9H probably damaging Het
Usp7 T C 16: 8,523,027 (GRCm39) K311E probably damaging Het
Vmn1r238 G A 18: 3,123,033 (GRCm39) T127I probably benign Het
Vmn2r28 T C 7: 5,496,678 (GRCm39) Y58C probably damaging Het
Wdr55 G A 18: 36,893,469 (GRCm39) G44S probably benign Het
Zfp677 C A 17: 21,617,647 (GRCm39) H235N probably damaging Het
Zfp869 T A 8: 70,159,636 (GRCm39) R312S 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
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
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'- TGGTAAGACTGTGACTCATTGC -3'
(R):5'- AGCAATGACCAAAGCCGTG -3'

Sequencing Primer
(F):5'- TGGCATGGACCATCACATTG -3'
(R):5'- CGTGTGCTACCAGAAGTCTTC -3'
Posted On 2019-11-26