Incidental Mutation 'R9136:Dlgap4'
ID 694003
Institutional Source Beutler Lab
Gene Symbol Dlgap4
Ensembl Gene ENSMUSG00000061689
Gene Name DLG associated protein 4
Synonyms PSD-95/SAP90 binding protein 4, Sapap4, DAP4, WBP16, SAP90/PSD-95-associated protein 4
MMRRC Submission 068931-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R9136 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 156455625-156606283 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 156588075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 640 (E640K)
Ref Sequence ENSEMBL: ENSMUSP00000105196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000094] [ENSMUST00000070782] [ENSMUST00000099145] [ENSMUST00000109566] [ENSMUST00000109567] [ENSMUST00000109568] [ENSMUST00000131157] [ENSMUST00000137356] [ENSMUST00000146412] [ENSMUST00000169464] [ENSMUST00000171030] [ENSMUST00000177013]
AlphaFold B1AZP2
Predicted Effect probably benign
Transcript: ENSMUST00000000094
SMART Domains Protein: ENSMUSP00000000094
Gene: ENSMUSG00000061689

DomainStartEndE-ValueType
Pfam:GKAP 3 232 2.4e-81 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000070782
AA Change: E657K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000068745
Gene: ENSMUSG00000061689
AA Change: E657K

DomainStartEndE-ValueType
low complexity region 162 177 N/A INTRINSIC
low complexity region 253 277 N/A INTRINSIC
low complexity region 373 390 N/A INTRINSIC
low complexity region 480 497 N/A INTRINSIC
low complexity region 527 554 N/A INTRINSIC
low complexity region 558 572 N/A INTRINSIC
low complexity region 600 620 N/A INTRINSIC
low complexity region 628 637 N/A INTRINSIC
Pfam:GKAP 638 989 1.2e-132 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099145
AA Change: E118K

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000096749
Gene: ENSMUSG00000061689
AA Change: E118K

DomainStartEndE-ValueType
low complexity region 19 33 N/A INTRINSIC
low complexity region 61 81 N/A INTRINSIC
low complexity region 89 98 N/A INTRINSIC
Pfam:GKAP 114 453 2.4e-126 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109566
SMART Domains Protein: ENSMUSP00000105194
Gene: ENSMUSG00000061689

DomainStartEndE-ValueType
Pfam:GKAP 1 285 2e-114 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109567
AA Change: E657K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105195
Gene: ENSMUSG00000061689
AA Change: E657K

DomainStartEndE-ValueType
low complexity region 162 177 N/A INTRINSIC
low complexity region 253 277 N/A INTRINSIC
low complexity region 373 390 N/A INTRINSIC
low complexity region 480 497 N/A INTRINSIC
low complexity region 527 554 N/A INTRINSIC
low complexity region 558 572 N/A INTRINSIC
low complexity region 600 620 N/A INTRINSIC
Pfam:GKAP 636 989 4.4e-116 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109568
AA Change: E640K

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105196
Gene: ENSMUSG00000061689
AA Change: E640K

DomainStartEndE-ValueType
low complexity region 162 177 N/A INTRINSIC
low complexity region 253 277 N/A INTRINSIC
low complexity region 373 390 N/A INTRINSIC
low complexity region 463 480 N/A INTRINSIC
low complexity region 510 537 N/A INTRINSIC
low complexity region 541 555 N/A INTRINSIC
low complexity region 583 603 N/A INTRINSIC
low complexity region 611 620 N/A INTRINSIC
Pfam:GKAP 636 975 5.6e-126 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131157
SMART Domains Protein: ENSMUSP00000134941
Gene: ENSMUSG00000061689

DomainStartEndE-ValueType
Pfam:GKAP 1 110 2.2e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137356
Predicted Effect probably benign
Transcript: ENSMUST00000146412
SMART Domains Protein: ENSMUSP00000135156
Gene: ENSMUSG00000061689

DomainStartEndE-ValueType
Pfam:GKAP 1 122 3.4e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000169464
AA Change: E657K

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126980
Gene: ENSMUSG00000061689
AA Change: E657K

DomainStartEndE-ValueType
low complexity region 162 177 N/A INTRINSIC
low complexity region 253 277 N/A INTRINSIC
low complexity region 373 390 N/A INTRINSIC
low complexity region 480 497 N/A INTRINSIC
low complexity region 527 554 N/A INTRINSIC
low complexity region 558 572 N/A INTRINSIC
low complexity region 600 620 N/A INTRINSIC
low complexity region 628 637 N/A INTRINSIC
Pfam:GKAP 660 992 1.5e-148 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171030
SMART Domains Protein: ENSMUSP00000129756
Gene: ENSMUSG00000061689

DomainStartEndE-ValueType
Pfam:GKAP 1 266 8.7e-103 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177013
SMART Domains Protein: ENSMUSP00000135409
Gene: ENSMUSG00000061689

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: This gene encodes a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. The encoded protein may play a role in synapse organization and neuronal signalling. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A G 17: 24,596,807 (GRCm39) Q420R probably benign Het
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Acsl5 A T 19: 55,266,400 (GRCm39) K109N probably benign Het
Agpat3 T C 10: 78,120,893 (GRCm39) N95S probably damaging Het
Akna C T 4: 63,310,392 (GRCm39) D451N probably damaging Het
Ankrd17 A T 5: 90,392,278 (GRCm39) D1797E probably damaging Het
Ano2 A G 6: 125,959,962 (GRCm39) N691S probably damaging Het
Arrdc1 A T 2: 24,817,193 (GRCm39) probably benign Het
Ccdc63 G A 5: 122,259,146 (GRCm39) R251W probably damaging Het
Cd70 T C 17: 57,453,152 (GRCm39) T171A possibly damaging Het
Cenpf A T 1: 189,403,352 (GRCm39) S382T probably benign Het
Cox5b-ps A C 13: 21,685,587 (GRCm39) M1R probably null Het
Ddx19b G T 8: 111,734,906 (GRCm39) D487E probably benign Het
Dtnbp1 A T 13: 45,084,546 (GRCm39) F198Y possibly damaging Het
Epha10 T C 4: 124,796,427 (GRCm39) Y379H Het
Eral1 A G 11: 77,964,960 (GRCm39) I411T Het
Exd1 C T 2: 119,359,385 (GRCm39) G193E probably damaging Het
Fat3 C A 9: 15,833,738 (GRCm39) A105S Het
Fbp2 C T 13: 63,002,840 (GRCm39) V71M possibly damaging Het
Gm10801 C CGTA 2: 98,494,152 (GRCm39) probably null Het
Grm5 G A 7: 87,689,254 (GRCm39) V542I possibly damaging Het
Hdc C T 2: 126,439,786 (GRCm39) probably null Het
Hspe1 G T 1: 55,128,314 (GRCm39) K36N probably damaging Het
Hypk T A 2: 121,287,636 (GRCm39) L17* probably null Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Immt C T 6: 71,851,403 (GRCm39) T588I probably damaging Het
Kat2b T A 17: 53,936,364 (GRCm39) S179T probably benign Het
Krtap19-5 C T 16: 88,693,246 (GRCm39) G22D unknown Het
Lipk A G 19: 33,999,830 (GRCm39) D153G probably damaging Het
Lnpep A G 17: 17,750,090 (GRCm39) V1000A probably benign Het
Map3k7cl T C 16: 87,391,227 (GRCm39) L117P probably damaging Het
Meikin A G 11: 54,285,464 (GRCm39) E167G possibly damaging Het
Miox A G 15: 89,220,740 (GRCm39) Y215C probably damaging Het
Mthfd1 T G 12: 76,350,649 (GRCm39) M677R probably damaging Het
Ncoa7 G A 10: 30,567,628 (GRCm39) S350L probably benign Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Nrg3 A T 14: 38,119,262 (GRCm39) N403K possibly damaging Het
Nup210 T C 6: 91,020,830 (GRCm39) T955A possibly damaging Het
Odf2l C A 3: 144,851,698 (GRCm39) T82K Het
Or10ag56 A G 2: 87,139,219 (GRCm39) I49V possibly damaging Het
Or1m1 T C 9: 18,666,175 (GRCm39) Y252C probably damaging Het
Or4c108 T A 2: 88,804,113 (GRCm39) M41L probably benign Het
Or8w1 A G 2: 87,465,341 (GRCm39) V250A probably benign Het
Otud7b T A 3: 96,059,815 (GRCm39) probably benign Het
Pcm1 C T 8: 41,732,825 (GRCm39) S694L probably benign Het
Pex11b T C 3: 96,551,259 (GRCm39) L248P probably damaging Het
Pira13 A T 7: 3,826,285 (GRCm39) I236N Het
Ppp3cb T C 14: 20,581,867 (GRCm39) I49M probably benign Het
Prorp C T 12: 55,350,727 (GRCm39) P12L probably benign Het
Prr14l A C 5: 32,986,080 (GRCm39) C1138W Het
Prss1 T G 6: 41,438,280 (GRCm39) probably benign Het
Psg22 T A 7: 18,460,811 (GRCm39) I480K probably damaging Het
Rgs21 A C 1: 144,412,653 (GRCm39) F57C Het
Rngtt T A 4: 33,404,218 (GRCm39) D468E probably damaging Het
Rorb A T 19: 18,934,686 (GRCm39) V313E probably damaging Het
Sdk2 A G 11: 113,697,203 (GRCm39) F1736S probably damaging Het
Sertad2 A T 11: 20,598,425 (GRCm39) E207V probably benign Het
Slitrk1 T C 14: 109,148,981 (GRCm39) I577V Het
Sos2 C A 12: 69,633,446 (GRCm39) E1143D possibly damaging Het
Spen T C 4: 141,249,623 (GRCm39) D55G unknown Het
Stoml1 C A 9: 58,168,236 (GRCm39) Q316K possibly damaging Het
Synpo2l C T 14: 20,715,857 (GRCm39) A243T probably damaging Het
Tenm4 A T 7: 96,473,125 (GRCm39) I974F possibly damaging Het
Trp53bp1 T A 2: 121,067,092 (GRCm39) I545F possibly damaging Het
Unc13a T C 8: 72,104,994 (GRCm39) D756G possibly damaging Het
Uqcrc1 A G 9: 108,776,973 (GRCm39) N393D possibly damaging Het
Vcl T A 14: 21,057,344 (GRCm39) D505E probably benign Het
Vwf A T 6: 125,576,356 (GRCm39) probably benign Het
Wdr11 A G 7: 129,204,816 (GRCm39) H207R Het
Zc3h7b A G 15: 81,653,312 (GRCm39) D72G probably damaging Het
Zfp507 A T 7: 35,475,883 (GRCm39) D813E probably damaging Het
Zfp704 T C 3: 9,509,324 (GRCm39) S374G probably benign Het
Zfp97 G A 17: 17,365,215 (GRCm39) C238Y probably benign Het
Other mutations in Dlgap4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02164:Dlgap4 APN 2 156,553,059 (GRCm39) missense probably damaging 1.00
IGL02732:Dlgap4 APN 2 156,591,243 (GRCm39) missense probably benign 0.30
IGL02868:Dlgap4 APN 2 156,542,816 (GRCm39) missense probably damaging 1.00
IGL03169:Dlgap4 APN 2 156,552,938 (GRCm39) splice site probably null
IGL03220:Dlgap4 APN 2 156,546,546 (GRCm39) missense probably damaging 1.00
E0374:Dlgap4 UTSW 2 156,603,763 (GRCm39) missense probably damaging 1.00
R0413:Dlgap4 UTSW 2 156,604,746 (GRCm39) missense probably damaging 1.00
R0573:Dlgap4 UTSW 2 156,588,111 (GRCm39) missense probably benign 0.32
R0645:Dlgap4 UTSW 2 156,603,799 (GRCm39) missense probably damaging 1.00
R0893:Dlgap4 UTSW 2 156,587,898 (GRCm39) nonsense probably null
R1472:Dlgap4 UTSW 2 156,602,821 (GRCm39) nonsense probably null
R1620:Dlgap4 UTSW 2 156,591,056 (GRCm39) nonsense probably null
R1636:Dlgap4 UTSW 2 156,587,997 (GRCm39) nonsense probably null
R2078:Dlgap4 UTSW 2 156,604,746 (GRCm39) missense probably damaging 1.00
R2173:Dlgap4 UTSW 2 156,604,732 (GRCm39) missense probably damaging 1.00
R2264:Dlgap4 UTSW 2 156,543,383 (GRCm39) missense probably benign 0.00
R2348:Dlgap4 UTSW 2 156,543,126 (GRCm39) missense possibly damaging 0.80
R3608:Dlgap4 UTSW 2 156,590,332 (GRCm39) intron probably benign
R3872:Dlgap4 UTSW 2 156,591,267 (GRCm39) missense probably benign 0.21
R3873:Dlgap4 UTSW 2 156,591,267 (GRCm39) missense probably benign 0.21
R3874:Dlgap4 UTSW 2 156,591,267 (GRCm39) missense probably benign 0.21
R3897:Dlgap4 UTSW 2 156,587,989 (GRCm39) missense probably damaging 1.00
R5068:Dlgap4 UTSW 2 156,549,031 (GRCm39) missense probably benign
R5286:Dlgap4 UTSW 2 156,587,839 (GRCm39) missense probably damaging 1.00
R5302:Dlgap4 UTSW 2 156,602,818 (GRCm39) missense probably damaging 1.00
R5568:Dlgap4 UTSW 2 156,604,821 (GRCm39) makesense probably null
R5691:Dlgap4 UTSW 2 156,546,390 (GRCm39) missense probably benign
R5741:Dlgap4 UTSW 2 156,552,968 (GRCm39) missense probably damaging 1.00
R5917:Dlgap4 UTSW 2 156,546,460 (GRCm39) missense probably damaging 1.00
R6140:Dlgap4 UTSW 2 156,604,649 (GRCm39) splice site probably null
R6992:Dlgap4 UTSW 2 156,590,860 (GRCm39) splice site probably null
R7082:Dlgap4 UTSW 2 156,590,342 (GRCm39) critical splice donor site probably null
R7566:Dlgap4 UTSW 2 156,604,657 (GRCm39) missense probably benign 0.00
R7698:Dlgap4 UTSW 2 156,591,015 (GRCm39) nonsense probably null
R7767:Dlgap4 UTSW 2 156,587,973 (GRCm39) missense probably damaging 1.00
R7853:Dlgap4 UTSW 2 156,547,802 (GRCm39) missense probably benign
R7944:Dlgap4 UTSW 2 156,591,054 (GRCm39) missense probably damaging 0.96
R8366:Dlgap4 UTSW 2 156,542,694 (GRCm39) nonsense probably null
R8835:Dlgap4 UTSW 2 156,587,946 (GRCm39) missense probably damaging 0.99
R9288:Dlgap4 UTSW 2 156,546,514 (GRCm39) missense possibly damaging 0.89
R9289:Dlgap4 UTSW 2 156,546,514 (GRCm39) missense possibly damaging 0.89
R9296:Dlgap4 UTSW 2 156,546,514 (GRCm39) missense possibly damaging 0.89
R9319:Dlgap4 UTSW 2 156,546,514 (GRCm39) missense possibly damaging 0.89
R9480:Dlgap4 UTSW 2 156,546,514 (GRCm39) missense possibly damaging 0.89
R9522:Dlgap4 UTSW 2 156,546,514 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- GAGTCTGCTCAGGATACCTACC -3'
(R):5'- TTAGCCACTTGGGGCAGATG -3'

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