Incidental Mutation 'R2348:Dlgap4'
ID 246020
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 040330-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R2348 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 156455625-156606283 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 156543126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 176 (D176E)
Ref Sequence ENSEMBL: ENSMUSP00000105196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070782] [ENSMUST00000109567] [ENSMUST00000109568] [ENSMUST00000169464]
AlphaFold B1AZP2
Predicted Effect probably benign
Transcript: ENSMUST00000070782
AA Change: D176E

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000068745
Gene: ENSMUSG00000061689
AA Change: D176E

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: ENSMUST00000109567
AA Change: D176E

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105195
Gene: ENSMUSG00000061689
AA Change: D176E

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: D176E

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105196
Gene: ENSMUSG00000061689
AA Change: D176E

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: ENSMUST00000169464
AA Change: D176E

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000126980
Gene: ENSMUSG00000061689
AA Change: D176E

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
Meta Mutation Damage Score 0.0876 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (31/31)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcyap1 A G 17: 93,509,702 (GRCm39) D51G possibly damaging Het
Ano3 A G 2: 110,614,088 (GRCm39) I205T possibly damaging Het
Arhgap10 A T 8: 78,177,555 (GRCm39) probably benign Het
Asb18 T G 1: 89,942,256 (GRCm39) D15A probably damaging Het
Atm C A 9: 53,403,568 (GRCm39) S1368I possibly damaging Het
Atp9a A T 2: 168,552,746 (GRCm39) probably benign Het
C2cd3 T C 7: 100,062,573 (GRCm39) V653A probably damaging Het
Ctc1 T A 11: 68,917,017 (GRCm39) S304T probably benign Het
Dennd4c G A 4: 86,729,764 (GRCm39) V789I probably benign Het
Hdac5 T C 11: 102,090,840 (GRCm39) T747A probably benign Het
Htr2a A T 14: 74,882,550 (GRCm39) N179Y probably damaging Het
Ift52 T C 2: 162,887,177 (GRCm39) V393A probably damaging Het
Itch T C 2: 155,050,998 (GRCm39) S562P possibly damaging Het
Khdc4 T C 3: 88,616,183 (GRCm39) S457P probably benign Het
Kiss1r G T 10: 79,757,654 (GRCm39) R336L probably benign Het
Klra13-ps A T 6: 130,268,271 (GRCm39) noncoding transcript Het
Krt8 T C 15: 101,907,300 (GRCm39) D261G probably benign Het
Mycl A T 4: 122,890,745 (GRCm39) T144S probably benign Het
Naip5 C T 13: 100,356,246 (GRCm39) R1123K probably benign Het
Or5b122 A T 19: 13,563,553 (GRCm39) E295V probably damaging Het
Rasip1 T G 7: 45,278,507 (GRCm39) probably null Het
Rc3h1 C A 1: 160,778,430 (GRCm39) R452S probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Tpk1 A G 6: 43,323,778 (GRCm39) S224P probably damaging Het
Vmn2r88 A T 14: 51,651,461 (GRCm39) K258N probably benign Het
Vps37c T C 19: 10,683,664 (GRCm39) S29P probably damaging Het
Zfp457 T A 13: 67,441,468 (GRCm39) D369V 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
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
R9136:Dlgap4 UTSW 2 156,588,075 (GRCm39) missense possibly damaging 0.78
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'- AACTGCCTATCCACCGAGATG -3'
(R):5'- TAGGCGTGCATGAAGTAGCG -3'

Sequencing Primer
(F):5'- TATCCACCGAGATGGCTTCAG -3'
(R):5'- TGCATGAAGTAGCGGGGCTG -3'
Posted On 2014-10-30