Incidental Mutation 'R4631:Dlg2'
ID 349191
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 041896-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4631 (G1)
Quality Score 217
Status Validated
Chromosome 7
Chromosomal Location 90125880-92098455 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91737822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 435 (I435F)
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 damaging
Transcript: ENSMUST00000074273
AA Change: I435F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073885
Gene: ENSMUSG00000052572
AA Change: I435F

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: I32F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095910
Gene: ENSMUSG00000052572
AA Change: I32F

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: I338F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102811
Gene: ENSMUSG00000052572
AA Change: I338F

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: I435F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102814
Gene: ENSMUSG00000052572
AA Change: I435F

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: ENSMUST00000146563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207593
Predicted Effect probably damaging
Transcript: ENSMUST00000231777
AA Change: I540F

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.8006 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (84/84)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,165,270 (GRCm39) L368Q probably damaging Het
Abcc2 C T 19: 43,803,146 (GRCm39) P661S possibly damaging Het
Adgre4 T G 17: 56,121,305 (GRCm39) M457R probably null Het
Ank C A 15: 27,467,176 (GRCm39) F29L probably benign Het
Arhgap20 T C 9: 51,751,653 (GRCm39) probably benign Het
Atf6 T C 1: 170,574,766 (GRCm39) probably null Het
Bhmt1b G A 18: 87,774,525 (GRCm39) R16H probably damaging Het
Bod1l A G 5: 41,975,078 (GRCm39) F2079L probably damaging Het
Cd163 T C 6: 124,306,045 (GRCm39) *1122Q probably null Het
Ces2g T C 8: 105,694,094 (GRCm39) probably null Het
Cntnap3 A G 13: 64,926,697 (GRCm39) Y558H probably benign Het
Ctsm T A 13: 61,685,510 (GRCm39) S301C probably null Het
Dlc1 A C 8: 37,404,712 (GRCm39) probably null Het
Dnah5 T C 15: 28,402,099 (GRCm39) V3420A probably damaging Het
Dnah5 T A 15: 28,420,140 (GRCm39) Y3813N probably damaging Het
Dnajc13 A G 9: 104,067,616 (GRCm39) M1181T probably damaging Het
Drc3 C A 11: 60,255,734 (GRCm39) T107N probably benign Het
Dydc2 T C 14: 40,771,286 (GRCm39) E131G probably benign Het
Eif5b T C 1: 38,080,828 (GRCm39) V723A probably damaging Het
Fndc9 C A 11: 46,128,675 (GRCm39) H65N possibly damaging Het
Fzd1 A T 5: 4,805,865 (GRCm39) Y572* probably null Het
Gps1 T A 11: 120,679,065 (GRCm39) probably null Het
Gvin3 A G 7: 106,198,730 (GRCm39) noncoding transcript Het
Kazn G A 4: 141,845,471 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnip1 T A 11: 33,942,821 (GRCm39) noncoding transcript Het
Kif19a A G 11: 114,675,673 (GRCm39) I382V possibly damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Malsu1 A T 6: 49,061,467 (GRCm39) E177V probably damaging Het
Man2a2 A G 7: 80,012,211 (GRCm39) F649L probably benign Het
Map3k11 A G 19: 5,740,941 (GRCm39) I223V probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Myh9 T G 15: 77,681,228 (GRCm39) D164A probably damaging Het
Myo16 T C 8: 10,556,984 (GRCm39) I1040T probably damaging Het
Myo18b C T 5: 112,994,266 (GRCm39) A896T probably damaging Het
Myocd G T 11: 65,069,685 (GRCm39) N798K probably benign Het
Or13c7b T C 4: 43,820,563 (GRCm39) D266G probably benign Het
Or1n1b T G 2: 36,780,630 (GRCm39) T77P probably benign Het
Or2l13b G A 16: 19,348,891 (GRCm39) R260* probably null Het
Or4c11 C T 2: 88,695,174 (GRCm39) T75I probably benign Het
Or4g7 T A 2: 111,309,908 (GRCm39) W260R probably damaging Het
Or52a5 A T 7: 103,426,682 (GRCm39) L290Q probably damaging Het
Or5b105 T A 19: 13,080,636 (GRCm39) I11F probably benign Het
Pcdh18 T A 3: 49,710,890 (GRCm39) I142F probably damaging Het
Pcyox1 T C 6: 86,366,212 (GRCm39) E334G possibly damaging Het
Pcyox1 T C 6: 86,366,125 (GRCm39) D363G probably benign Het
Pgm2 A G 5: 64,263,290 (GRCm39) probably null Het
Plagl1 T G 10: 13,003,743 (GRCm39) probably benign Het
Ppp1r9a A G 6: 4,906,537 (GRCm39) D364G possibly damaging Het
Rab2b T A 14: 52,503,699 (GRCm39) H141L possibly damaging Het
Rev3l A G 10: 39,704,412 (GRCm39) K279E probably benign Het
Rnf111 G T 9: 70,357,678 (GRCm39) T607N probably benign Het
Scn8a C A 15: 100,914,384 (GRCm39) S1130* probably null Het
Selenbp1 A G 3: 94,851,879 (GRCm39) *473W probably null Het
Sh3bp4 A C 1: 89,071,995 (GRCm39) D281A probably damaging Het
Skint5 T A 4: 113,486,314 (GRCm39) probably null Het
Slc1a4 A G 11: 20,258,452 (GRCm39) L249P probably damaging Het
Slc45a2 T A 15: 11,012,662 (GRCm39) S222T probably benign Het
Slc7a4 A G 16: 17,392,255 (GRCm39) F393S probably damaging Het
Slc9a2 A T 1: 40,801,078 (GRCm39) D536V possibly damaging Het
Stra6 T A 9: 58,048,115 (GRCm39) probably benign Het
Tmem145 A G 7: 25,007,250 (GRCm39) D156G probably benign Het
Tns3 A C 11: 8,401,119 (GRCm39) F1060V probably benign Het
Trak1 G A 9: 121,283,491 (GRCm39) R419Q probably benign Het
Trappc8 A G 18: 21,000,865 (GRCm39) S273P probably benign Het
Trmt11 A G 10: 30,435,200 (GRCm39) S320P probably benign Het
Ugt1a6a A T 1: 88,066,980 (GRCm39) Y262F probably benign Het
Vmn1r73 G A 7: 11,490,758 (GRCm39) C192Y probably benign Het
Vmn2r103 T C 17: 20,013,958 (GRCm39) I250T probably benign Het
Vmn2r25 T A 6: 123,829,962 (GRCm39) D63V possibly damaging Het
Vps13b C T 15: 35,646,278 (GRCm39) H1461Y possibly damaging Het
Ythdc2 A T 18: 45,020,698 (GRCm39) E1427D probably benign Het
Zbed6 A T 1: 133,586,482 (GRCm39) V285E probably damaging Het
Zbtb26 A G 2: 37,326,968 (GRCm39) F23L probably benign Het
Zfp62 T A 11: 49,108,632 (GRCm39) *908R probably null Het
Zfp975 A T 7: 42,312,369 (GRCm39) N81K probably benign Het
Zkscan16 G A 4: 58,951,918 (GRCm39) V198M 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
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'- TGCATTTTACTGTGGCAAGC -3'
(R):5'- TTCATGGATGATGATAGATGCTGAC -3'

Sequencing Primer
(F):5'- ACTGTGGCAAGCTACTATAGTTG -3'
(R):5'- TATATGCCTCAGTACAGGGGAATGTC -3'
Posted On 2015-10-08