Incidental Mutation 'R9130:Dlg2'
ID 693542
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 068928-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9130 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 90125880-92098455 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 92080258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 711 (V711F)
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: V729F

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073885
Gene: ENSMUSG00000052572
AA Change: V729F

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: V340F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095910
Gene: ENSMUSG00000052572
AA Change: V340F

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 possibly damaging
Transcript: ENSMUST00000107193
AA Change: V614F

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102811
Gene: ENSMUSG00000052572
AA Change: V614F

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: V711F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102814
Gene: ENSMUSG00000052572
AA Change: V711F

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 damaging
Transcript: ENSMUST00000231777
AA Change: V816F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (87/88)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr A G 11: 76,342,753 (GRCm39) C585R possibly damaging Het
Acaca T C 11: 84,202,145 (GRCm39) L1380S probably damaging Het
Aifm2 A C 10: 61,563,505 (GRCm39) Q125P probably null Het
Ak5 A T 3: 152,178,569 (GRCm39) L482* probably null Het
Aldh3a2 T C 11: 61,139,758 (GRCm39) Q458R probably benign Het
Ank2 G A 3: 126,810,565 (GRCm39) T524I Het
Apoc3 A T 9: 46,146,481 (GRCm39) S25T unknown Het
Ash1l A T 3: 88,965,848 (GRCm39) R2417* probably null Het
Bbs12 A G 3: 37,373,205 (GRCm39) probably benign Het
Birc6 T A 17: 74,919,146 (GRCm39) I1992N Het
Brd9 G A 13: 74,092,906 (GRCm39) V299M probably damaging Het
Brwd1 A T 16: 95,866,130 (GRCm39) N217K probably damaging Het
C3 T C 17: 57,518,678 (GRCm39) Y1235C probably damaging Het
Cacna1c T C 6: 118,590,907 (GRCm39) Y1538C Het
Ccdc172 T A 19: 58,525,779 (GRCm39) H212Q possibly damaging Het
Cdc6 A G 11: 98,802,999 (GRCm39) D313G probably damaging Het
Cyp2e1 T C 7: 140,353,022 (GRCm39) V353A probably damaging Het
Dmac2 T C 7: 25,320,448 (GRCm39) F49S probably damaging Het
Dnah7b A G 1: 46,173,674 (GRCm39) K660E probably benign Het
Dusp8 A T 7: 141,642,155 (GRCm39) S106T probably benign Het
Dynll1 T A 5: 115,438,604 (GRCm39) I34F probably benign Het
Epb41l4b A G 4: 57,103,447 (GRCm39) F130L possibly damaging Het
Erc2 T C 14: 27,751,418 (GRCm39) Y705H probably benign Het
Exosc8 T A 3: 54,638,503 (GRCm39) L160F probably damaging Het
F5 A G 1: 164,001,830 (GRCm39) T178A probably benign Het
F7 C A 8: 13,085,059 (GRCm39) P362T probably damaging Het
Fkbp3 T C 12: 65,112,567 (GRCm39) K156E possibly damaging Het
Folh1 G A 7: 86,368,913 (GRCm39) T738I probably benign Het
Gatad2b C T 3: 90,255,936 (GRCm39) A134V probably benign Het
Glud1 T A 14: 34,057,349 (GRCm39) W338R Het
Gm21149 T C 5: 15,680,261 (GRCm39) K62E possibly damaging Het
Gm32742 A G 9: 51,050,049 (GRCm39) Y1517H probably damaging Het
Grik5 G A 7: 24,767,429 (GRCm39) probably benign Het
Gse1 A T 8: 121,295,052 (GRCm39) E391V unknown Het
Gxylt2 C T 6: 100,710,329 (GRCm39) Q157* probably null Het
Hbq1b C T 11: 32,237,092 (GRCm39) T27I probably damaging Het
Hoxd13 T A 2: 74,499,382 (GRCm39) D243E probably benign Het
Hsd3b3 T A 3: 98,651,211 (GRCm39) I80F possibly damaging Het
Hsf2bp A T 17: 32,230,082 (GRCm39) probably benign Het
Itch G A 2: 155,052,045 (GRCm39) probably benign Het
Kat14 T C 2: 144,215,742 (GRCm39) F76L probably benign Het
Kdm6b T C 11: 69,295,424 (GRCm39) T948A unknown Het
Kmt2c A T 5: 25,516,102 (GRCm39) H2580Q probably benign Het
Lrp1 T C 10: 127,382,281 (GRCm39) T3727A probably benign Het
Lrrc8a A G 2: 30,147,042 (GRCm39) I619V possibly damaging Het
Mansc1 C A 6: 134,586,951 (GRCm39) G409W probably damaging Het
Map3k11 C A 19: 5,746,038 (GRCm39) L418I possibly damaging Het
Mettl4 T A 17: 95,042,913 (GRCm39) I308L possibly damaging Het
Myo9a A G 9: 59,739,514 (GRCm39) D742G probably damaging Het
Mypn T C 10: 63,028,652 (GRCm39) Q137R probably benign Het
Neurod4 A T 10: 130,106,427 (GRCm39) Y282* probably null Het
Nup210 A G 6: 91,020,799 (GRCm39) F965S probably benign Het
Oplah T C 15: 76,185,098 (GRCm39) T872A possibly damaging Het
Or1ab2 G T 8: 72,863,697 (GRCm39) G96C probably damaging Het
Or4b12 A G 2: 90,096,358 (GRCm39) C139R probably damaging Het
Or5m8 T G 2: 85,822,819 (GRCm39) Y219* probably null Het
Or6c68 A G 10: 129,157,897 (GRCm39) N135S probably benign Het
Pkn2 A T 3: 142,515,245 (GRCm39) D696E possibly damaging Het
Pla2r1 A T 2: 60,325,729 (GRCm39) probably benign Het
Plpp1 A T 13: 112,988,038 (GRCm39) I54L Het
Ppp4r2 T G 6: 100,842,113 (GRCm39) N191K probably damaging Het
Ptpdc1 G T 13: 48,739,655 (GRCm39) P592Q probably benign Het
Qrich2 A T 11: 116,347,692 (GRCm39) L1044* probably null Het
Rb1cc1 A G 1: 6,315,109 (GRCm39) I421V probably damaging Het
Ripor3 A T 2: 167,823,267 (GRCm39) C881* probably null Het
Rreb1 T C 13: 38,114,282 (GRCm39) F547S probably benign Het
Scel T C 14: 103,770,746 (GRCm39) V60A probably benign Het
Shank3 G A 15: 89,442,419 (GRCm39) A1771T probably benign Het
Slc6a20a A G 9: 123,469,631 (GRCm39) probably null Het
Slfn5 C T 11: 82,851,446 (GRCm39) T581I probably damaging Het
Ssh3 A C 19: 4,314,113 (GRCm39) V412G probably damaging Het
Stx17 T G 4: 48,159,071 (GRCm39) probably benign Het
Sun3 T G 11: 8,968,170 (GRCm39) T274P probably benign Het
Tm9sf1 T C 14: 55,875,464 (GRCm39) T427A probably damaging Het
Tmem114 T A 16: 8,229,983 (GRCm39) I140F Het
Tmem40 T C 6: 115,710,980 (GRCm39) R167G possibly damaging Het
Top3a C A 11: 60,641,401 (GRCm39) probably null Het
Trafd1 A G 5: 121,516,573 (GRCm39) V210A probably benign Het
Trim66 T C 7: 109,076,896 (GRCm39) I348V possibly damaging Het
Ttn G A 2: 76,679,172 (GRCm39) A10850V unknown Het
Unc80 G A 1: 66,677,244 (GRCm39) A2058T possibly damaging Het
Upp2 T C 2: 58,668,020 (GRCm39) Y238H probably damaging Het
Vmn1r224 T A 17: 20,640,242 (GRCm39) I273N probably damaging Het
Vps13c T C 9: 67,836,805 (GRCm39) S1768P probably damaging Het
Zfp26 G A 9: 20,348,723 (GRCm39) H614Y probably damaging Het
Zfp263 C T 16: 3,567,701 (GRCm39) T672I probably benign Het
Zfp641 T A 15: 98,186,732 (GRCm39) Q297L probably benign Het
Zfp944 T C 17: 22,560,031 (GRCm39) E25G probably damaging Het
Zfp994 T C 17: 22,418,981 (GRCm39) E656G unknown Het
Zfyve19 A G 2: 119,045,330 (GRCm39) D206G 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
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
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'- GATGGTAAGACTGTGACTCATTGC -3'
(R):5'- CAATGACCAAAGCCGTGTG -3'

Sequencing Primer
(F):5'- TGGCATGGACCATCACATTG -3'
(R):5'- TGCTACCAGAAGTCTTCTTTAGG -3'
Posted On 2022-01-20