Incidental Mutation 'R0242:Dlgap2'
ID 66252
Institutional Source Beutler Lab
Gene Symbol Dlgap2
Ensembl Gene ENSMUSG00000047495
Gene Name DLG associated protein 2
Synonyms 6430596N04Rik, PSD-95/SAP90-binding protein 2, Sapap2, DAP2, SAP90/PSD-95-associated protein 2
MMRRC Submission 038480-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0242 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 14145865-14897680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14777562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 268 (D268G)
Ref Sequence ENSEMBL: ENSMUSP00000123104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043279] [ENSMUST00000133298] [ENSMUST00000150247] [ENSMUST00000152652]
AlphaFold Q8BJ42
Predicted Effect probably benign
Transcript: ENSMUST00000043279
AA Change: D268G

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: D268G

DomainStartEndE-ValueType
low complexity region 269 294 N/A INTRINSIC
low complexity region 297 310 N/A INTRINSIC
low complexity region 446 456 N/A INTRINSIC
low complexity region 543 556 N/A INTRINSIC
low complexity region 614 628 N/A INTRINSIC
Pfam:GKAP 707 1059 1.5e-151 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133298
AA Change: D268G

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: D268G

DomainStartEndE-ValueType
low complexity region 269 294 N/A INTRINSIC
low complexity region 297 310 N/A INTRINSIC
low complexity region 446 456 N/A INTRINSIC
low complexity region 543 556 N/A INTRINSIC
low complexity region 614 628 N/A INTRINSIC
Pfam:GKAP 707 1059 1.5e-151 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141214
Predicted Effect probably benign
Transcript: ENSMUST00000150247
AA Change: D268G

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: D268G

DomainStartEndE-ValueType
low complexity region 269 294 N/A INTRINSIC
low complexity region 297 310 N/A INTRINSIC
low complexity region 446 456 N/A INTRINSIC
low complexity region 543 556 N/A INTRINSIC
low complexity region 614 628 N/A INTRINSIC
Pfam:GKAP 707 1045 1e-151 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152652
AA Change: D269G

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: D269G

DomainStartEndE-ValueType
low complexity region 270 295 N/A INTRINSIC
low complexity region 298 311 N/A INTRINSIC
low complexity region 447 457 N/A INTRINSIC
low complexity region 544 557 N/A INTRINSIC
low complexity region 615 629 N/A INTRINSIC
Pfam:GKAP 715 1060 1.9e-160 PFAM
Meta Mutation Damage Score 0.0718 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.2%
  • 10x: 90.8%
  • 20x: 69.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a membrane-associated protein that may play a role in synapse organization and signalling in neuronal cells. This gene is biallelically expressed in the brain, however, only the paternal allele is expressed in the testis (PMID:18055845). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2014]
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T C 8: 13,601,676 (GRCm39) D230G probably benign Het
Abhd13 A G 8: 10,037,561 (GRCm39) I53V probably benign Het
Adgrl2 A C 3: 148,544,821 (GRCm39) probably null Het
Aldh16a1 G A 7: 44,794,088 (GRCm39) A596V probably damaging Het
Aldh3b2 T A 19: 4,029,414 (GRCm39) Y262* probably null Het
Ambn A G 5: 88,615,831 (GRCm39) Q420R possibly damaging Het
Arhgap9 C A 10: 127,165,407 (GRCm39) H430Q probably benign Het
Arhgef25 C T 10: 127,019,933 (GRCm39) G435E probably damaging Het
Armc12 A T 17: 28,751,366 (GRCm39) D120V possibly damaging Het
Asxl3 G A 18: 22,649,738 (GRCm39) E576K possibly damaging Het
Bcdin3d T C 15: 99,368,776 (GRCm39) E141G probably benign Het
Bmpr1b G A 3: 141,546,437 (GRCm39) T483M probably damaging Het
Caprin2 C T 6: 148,744,452 (GRCm39) S991N probably damaging Het
Cd96 T C 16: 45,892,129 (GRCm39) I286M possibly damaging Het
Cdcp1 G T 9: 123,009,237 (GRCm39) F480L probably benign Het
Celf5 T C 10: 81,300,243 (GRCm39) T258A probably benign Het
Clca3b A G 3: 144,547,226 (GRCm39) S304P probably benign Het
Cmya5 A T 13: 93,232,108 (GRCm39) H993Q probably benign Het
Cnbp A T 6: 87,822,746 (GRCm39) C6S probably damaging Het
Col14a1 C T 15: 55,360,907 (GRCm39) R1605W probably damaging Het
Cops7a T C 6: 124,941,817 (GRCm39) N11S probably benign Het
Cpvl T C 6: 53,909,485 (GRCm39) H217R possibly damaging Het
Cyp2c66 A G 19: 39,130,369 (GRCm39) Y68C probably damaging Het
Dicer1 G A 12: 104,668,710 (GRCm39) T1324M probably benign Het
Dnm1 T A 2: 32,207,001 (GRCm39) M535L possibly damaging Het
Dock7 A T 4: 98,850,517 (GRCm39) F1575Y probably benign Het
Dpp10 T A 1: 123,326,275 (GRCm39) H403L possibly damaging Het
Dync1h1 A G 12: 110,616,285 (GRCm39) D3112G possibly damaging Het
Eno3 A G 11: 70,548,761 (GRCm39) E21G probably null Het
Fam120b T A 17: 15,643,186 (GRCm39) V655D probably damaging Het
Fkbp5 A T 17: 28,647,426 (GRCm39) D136E probably benign Het
Gfer A G 17: 24,913,277 (GRCm39) W192R probably damaging Het
Golgb1 C T 16: 36,695,992 (GRCm39) Q164* probably null Het
Gpnmb A G 6: 49,024,276 (GRCm39) N197S probably damaging Het
Gtf2f1 G A 17: 57,310,802 (GRCm39) T414M probably benign Het
Helz2 C T 2: 180,872,223 (GRCm39) R2539Q probably damaging Het
Hsd17b12 T A 2: 93,988,160 (GRCm39) I19F probably benign Het
Incenp T C 19: 9,871,114 (GRCm39) T172A unknown Het
Jmy A G 13: 93,578,126 (GRCm39) Y681H probably benign Het
Kbtbd11 A G 8: 15,077,508 (GRCm39) T36A probably benign Het
Kcnh4 T C 11: 100,646,525 (GRCm39) D267G probably damaging Het
Krt40 T A 11: 99,429,568 (GRCm39) E335D probably damaging Het
Krt86 T A 15: 101,374,454 (GRCm39) Y282* probably null Het
Lgi3 C T 14: 70,772,255 (GRCm39) R267* probably null Het
Lrp1b T A 2: 40,888,195 (GRCm39) H2355L probably benign Het
Lrrc8e G A 8: 4,285,401 (GRCm39) R542H probably benign Het
Mast4 G A 13: 102,990,350 (GRCm39) S57F probably damaging Het
Mia2 T C 12: 59,155,642 (GRCm39) Y452H probably damaging Het
Mmachc C T 4: 116,561,738 (GRCm39) R132Q probably damaging Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Mtbp T A 15: 55,440,882 (GRCm39) N356K possibly damaging Het
Myo5b A G 18: 74,794,787 (GRCm39) H552R possibly damaging Het
Niban1 A G 1: 151,593,967 (GRCm39) D884G probably benign Het
Noxred1 A G 12: 87,273,753 (GRCm39) V96A probably benign Het
Nr1d2 T A 14: 18,211,933 (GRCm38) D390V possibly damaging Het
Odad2 A T 18: 7,211,516 (GRCm39) V786D probably damaging Het
Or1r1 T C 11: 73,874,538 (GRCm39) S299G probably benign Het
Or6c1b T A 10: 129,273,217 (GRCm39) Y179N probably damaging Het
Otog G T 7: 45,916,805 (GRCm39) C914F probably damaging Het
Pank2 G T 2: 131,122,117 (GRCm39) C214F probably damaging Het
Pcdhb1 T A 18: 37,399,788 (GRCm39) S580T probably benign Het
Pdia3 T C 2: 121,244,592 (GRCm39) S2P probably damaging Het
Peli1 G T 11: 21,092,602 (GRCm39) R83L probably damaging Het
Pla2g3 T A 11: 3,441,935 (GRCm39) C366* probably null Het
Pon3 T A 6: 5,240,860 (GRCm39) D107V probably benign Het
Ppip5k2 A G 1: 97,668,816 (GRCm39) C532R probably damaging Het
Psd3 A G 8: 68,210,738 (GRCm39) M270T probably damaging Het
Pus1 A T 5: 110,927,664 (GRCm39) H30Q probably benign Het
Pwwp3a T C 10: 80,070,092 (GRCm39) S354P probably benign Het
Rab7 A T 6: 87,982,114 (GRCm39) V87E probably damaging Het
Reln A G 5: 22,147,595 (GRCm39) probably null Het
S1pr3 A G 13: 51,572,938 (GRCm39) T40A probably benign Het
Senp7 T A 16: 55,999,884 (GRCm39) I853N probably damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Shroom1 T G 11: 53,356,312 (GRCm39) probably null Het
Slc24a3 T C 2: 145,448,584 (GRCm39) I376T probably benign Het
Slc46a1 T C 11: 78,359,493 (GRCm39) I375T possibly damaging Het
Slc4a9 T C 18: 36,666,733 (GRCm39) F527S probably damaging Het
Slc4a9 T A 18: 36,674,286 (GRCm39) I924N probably damaging Het
Slx4 T A 16: 3,804,816 (GRCm39) E666V probably damaging Het
Sorcs1 C T 19: 50,216,659 (GRCm39) G640E probably damaging Het
Spmap2l G T 5: 77,164,152 (GRCm39) E52* probably null Het
Sptan1 A T 2: 29,908,413 (GRCm39) M1725L probably benign Het
Sync G A 4: 129,187,514 (GRCm39) R182K probably damaging Het
Syne2 G A 12: 76,144,808 (GRCm39) G1586S probably damaging Het
Sytl1 G T 4: 132,980,768 (GRCm39) T522K probably damaging Het
Tex2 T A 11: 106,410,781 (GRCm39) K414* probably null Het
Thsd7a G A 6: 12,503,915 (GRCm39) T413I probably benign Het
Tm9sf1 C T 14: 55,875,392 (GRCm39) A451T possibly damaging Het
Ttn A T 2: 76,656,496 (GRCm39) probably benign Het
Uba2 T C 7: 33,854,054 (GRCm39) I140V possibly damaging Het
Ushbp1 C A 8: 71,842,762 (GRCm39) G361* probably null Het
Wbp2nl C T 15: 82,197,988 (GRCm39) A175V probably benign Het
Zc3h12d A G 10: 7,738,330 (GRCm39) E212G probably damaging Het
Other mutations in Dlgap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01476:Dlgap2 APN 8 14,828,301 (GRCm39) nonsense probably null
IGL01788:Dlgap2 APN 8 14,893,631 (GRCm39) missense probably benign 0.19
IGL02054:Dlgap2 APN 8 14,893,552 (GRCm39) missense probably damaging 0.98
IGL02969:Dlgap2 APN 8 14,881,579 (GRCm39) missense possibly damaging 0.95
IGL03183:Dlgap2 APN 8 14,777,525 (GRCm39) missense possibly damaging 0.62
IGL03303:Dlgap2 APN 8 14,777,812 (GRCm39) missense probably damaging 0.99
G1Funyon:Dlgap2 UTSW 8 14,873,577 (GRCm39) missense probably benign 0.27
PIT4403001:Dlgap2 UTSW 8 14,881,528 (GRCm39) missense probably damaging 1.00
R0026:Dlgap2 UTSW 8 14,777,363 (GRCm39) nonsense probably null
R0242:Dlgap2 UTSW 8 14,777,562 (GRCm39) missense probably benign 0.34
R0647:Dlgap2 UTSW 8 14,777,591 (GRCm39) missense possibly damaging 0.95
R1221:Dlgap2 UTSW 8 14,776,952 (GRCm39) missense probably benign 0.08
R1374:Dlgap2 UTSW 8 14,881,228 (GRCm39) splice site probably benign
R1440:Dlgap2 UTSW 8 14,777,060 (GRCm39) missense probably benign
R1544:Dlgap2 UTSW 8 14,879,861 (GRCm39) splice site probably null
R1550:Dlgap2 UTSW 8 14,872,499 (GRCm39) missense probably damaging 0.98
R1804:Dlgap2 UTSW 8 14,777,809 (GRCm39) missense possibly damaging 0.71
R1870:Dlgap2 UTSW 8 14,823,347 (GRCm39) missense probably damaging 1.00
R1921:Dlgap2 UTSW 8 14,893,624 (GRCm39) missense probably benign 0.10
R2119:Dlgap2 UTSW 8 14,828,206 (GRCm39) missense possibly damaging 0.69
R2193:Dlgap2 UTSW 8 14,793,431 (GRCm39) missense possibly damaging 0.51
R4381:Dlgap2 UTSW 8 14,896,502 (GRCm39) missense probably benign
R4422:Dlgap2 UTSW 8 14,793,463 (GRCm39) critical splice donor site probably null
R4521:Dlgap2 UTSW 8 14,777,871 (GRCm39) missense probably damaging 1.00
R4581:Dlgap2 UTSW 8 14,896,679 (GRCm39) missense probably damaging 1.00
R4585:Dlgap2 UTSW 8 14,777,999 (GRCm39) critical splice donor site probably null
R4760:Dlgap2 UTSW 8 14,823,380 (GRCm39) missense probably damaging 1.00
R5077:Dlgap2 UTSW 8 14,872,691 (GRCm39) missense probably benign 0.35
R5373:Dlgap2 UTSW 8 14,873,614 (GRCm39) missense probably benign 0.19
R5374:Dlgap2 UTSW 8 14,873,614 (GRCm39) missense probably benign 0.19
R5552:Dlgap2 UTSW 8 14,881,342 (GRCm39) nonsense probably null
R5964:Dlgap2 UTSW 8 14,777,128 (GRCm39) nonsense probably null
R6125:Dlgap2 UTSW 8 14,777,193 (GRCm39) missense possibly damaging 0.78
R6147:Dlgap2 UTSW 8 14,777,294 (GRCm39) missense probably benign 0.05
R6163:Dlgap2 UTSW 8 14,896,641 (GRCm39) missense probably damaging 1.00
R6269:Dlgap2 UTSW 8 14,872,369 (GRCm39) missense probably benign 0.01
R6629:Dlgap2 UTSW 8 14,881,465 (GRCm39) missense probably benign 0.00
R6765:Dlgap2 UTSW 8 14,793,284 (GRCm39) missense probably benign 0.00
R6809:Dlgap2 UTSW 8 14,229,619 (GRCm39) intron probably benign
R6913:Dlgap2 UTSW 8 14,828,374 (GRCm39) missense probably benign 0.10
R7219:Dlgap2 UTSW 8 14,793,296 (GRCm39) missense probably benign 0.00
R7485:Dlgap2 UTSW 8 14,879,952 (GRCm39) missense probably damaging 0.97
R7560:Dlgap2 UTSW 8 14,872,697 (GRCm39) critical splice donor site probably null
R7826:Dlgap2 UTSW 8 14,793,410 (GRCm39) missense probably benign 0.38
R7976:Dlgap2 UTSW 8 14,793,410 (GRCm39) missense probably benign 0.38
R8101:Dlgap2 UTSW 8 14,881,600 (GRCm39) missense probably benign 0.04
R8301:Dlgap2 UTSW 8 14,873,577 (GRCm39) missense probably benign 0.27
R8333:Dlgap2 UTSW 8 14,828,295 (GRCm39) missense probably benign 0.03
R8367:Dlgap2 UTSW 8 14,893,544 (GRCm39) missense probably benign 0.00
R8492:Dlgap2 UTSW 8 14,828,271 (GRCm39) missense possibly damaging 0.49
R8685:Dlgap2 UTSW 8 14,881,628 (GRCm39) missense possibly damaging 0.71
R8690:Dlgap2 UTSW 8 14,793,430 (GRCm39) missense probably benign 0.00
R8887:Dlgap2 UTSW 8 14,229,682 (GRCm39) critical splice donor site probably null
R9328:Dlgap2 UTSW 8 14,777,441 (GRCm39) missense probably damaging 1.00
R9338:Dlgap2 UTSW 8 14,229,683 (GRCm39) critical splice donor site probably null
R9465:Dlgap2 UTSW 8 14,828,226 (GRCm39) missense probably damaging 1.00
R9680:Dlgap2 UTSW 8 14,896,653 (GRCm39) missense probably damaging 0.98
X0060:Dlgap2 UTSW 8 14,889,787 (GRCm39) missense probably damaging 1.00
Z1088:Dlgap2 UTSW 8 14,872,472 (GRCm39) missense probably benign 0.10
Z1177:Dlgap2 UTSW 8 14,777,659 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2013-08-19