Incidental Mutation 'R3874:Dlgap4'
ID 276706
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 040792-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R3874 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 156455625-156606283 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 156591267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 818 (S818P)
Ref Sequence ENSEMBL: ENSMUSP00000105196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000094] [ENSMUST00000070782] [ENSMUST00000099145] [ENSMUST00000109566] [ENSMUST00000109567] [ENSMUST00000109568] [ENSMUST00000169464] [ENSMUST00000131157] [ENSMUST00000171030] [ENSMUST00000137356] [ENSMUST00000146412] [ENSMUST00000177013]
AlphaFold B1AZP2
Predicted Effect probably benign
Transcript: ENSMUST00000000094
AA Change: S141P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000000094
Gene: ENSMUSG00000061689
AA Change: S141P

DomainStartEndE-ValueType
Pfam:GKAP 3 232 2.4e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070782
AA Change: S832P

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000068745
Gene: ENSMUSG00000061689
AA Change: S832P

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: S296P

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000096749
Gene: ENSMUSG00000061689
AA Change: S296P

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
AA Change: S128P

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105194
Gene: ENSMUSG00000061689
AA Change: S128P

DomainStartEndE-ValueType
Pfam:GKAP 1 285 2e-114 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109567
AA Change: S832P

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105195
Gene: ENSMUSG00000061689
AA Change: S832P

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 probably benign
Transcript: ENSMUST00000109568
AA Change: S818P

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105196
Gene: ENSMUSG00000061689
AA Change: S818P

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: S835P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000126980
Gene: ENSMUSG00000061689
AA Change: S835P

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: ENSMUST00000131157
AA Change: S11P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000134941
Gene: ENSMUSG00000061689
AA Change: S11P

DomainStartEndE-ValueType
Pfam:GKAP 1 110 2.2e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171030
AA Change: S128P

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000129756
Gene: ENSMUSG00000061689
AA Change: S128P

DomainStartEndE-ValueType
Pfam:GKAP 1 266 8.7e-103 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127944
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 probably benign
Transcript: ENSMUST00000177013
SMART Domains Protein: ENSMUSP00000135409
Gene: ENSMUSG00000061689

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
Meta Mutation Damage Score 0.0868 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130213A22Rik C A 11: 69,012,301 (GRCm39) G26* probably null Het
Abca5 T A 11: 110,201,059 (GRCm39) Y447F probably damaging Het
Acox2 A G 14: 8,248,061 (GRCm38) I407T probably benign Het
Adam8 T C 7: 139,567,520 (GRCm39) N408D probably damaging Het
Adgre1 A T 17: 57,708,925 (GRCm39) T39S probably benign Het
Akap12 G A 10: 4,307,590 (GRCm39) V1467I probably benign Het
Arid1b T A 17: 5,386,790 (GRCm39) probably null Het
Atp2c2 A G 8: 120,462,035 (GRCm39) I303V possibly damaging Het
Bpifc C T 10: 85,827,118 (GRCm39) V144I probably benign Het
Camk4 A G 18: 33,291,907 (GRCm39) E189G possibly damaging Het
Casz1 A G 4: 149,024,046 (GRCm39) probably benign Het
Ccdc134 T C 15: 82,015,643 (GRCm39) V41A possibly damaging Het
Chrd A T 16: 20,557,660 (GRCm39) T753S probably damaging Het
Cracd A G 5: 76,988,739 (GRCm39) D30G probably damaging Het
Cyb561a3 T C 19: 10,562,735 (GRCm39) V125A probably benign Het
D630039A03Rik T A 4: 57,910,606 (GRCm39) T69S probably benign Het
Dchs1 A G 7: 105,410,842 (GRCm39) F1687S probably damaging Het
Dnah2 A G 11: 69,320,174 (GRCm39) I3965T probably damaging Het
Dnai2 G T 11: 114,623,781 (GRCm39) G15W probably damaging Het
Dsg1c A G 18: 20,410,109 (GRCm39) I526V probably benign Het
Far2 G A 6: 148,052,089 (GRCm39) E123K probably benign Het
Gli1 A T 10: 127,166,088 (GRCm39) V1055E probably damaging Het
Hand2 G T 8: 57,775,011 (GRCm39) A24S probably benign Het
Helb T C 10: 119,941,942 (GRCm39) I249V probably benign Het
Hspa4l G A 3: 40,727,074 (GRCm39) V492M probably damaging Het
Hspg2 T C 4: 137,266,660 (GRCm39) I1916T probably damaging Het
Igfals G A 17: 25,100,579 (GRCm39) V557I possibly damaging Het
Itpa T G 2: 130,522,930 (GRCm39) S176A probably damaging Het
Kcnu1 T A 8: 26,375,345 (GRCm39) L353H probably damaging Het
Klhl1 A G 14: 96,755,615 (GRCm39) F47L probably benign Het
Klhl13 T C X: 23,151,415 (GRCm39) D21G probably benign Het
Krt26 T C 11: 99,225,570 (GRCm39) K304E probably damaging Het
Krt9 C T 11: 100,081,675 (GRCm39) V285I probably damaging Het
Mansc1 T C 6: 134,587,146 (GRCm39) R344G possibly damaging Het
Mier2 G T 10: 79,377,631 (GRCm39) P439T possibly damaging Het
Mppe1 T A 18: 67,358,957 (GRCm39) probably null Het
Nedd4l G A 18: 65,300,606 (GRCm39) A243T probably benign Het
Notch4 T A 17: 34,797,043 (GRCm39) C934* probably null Het
Nsmce3 C T 7: 64,521,916 (GRCm39) D251N probably damaging Het
Or10a49 C T 7: 108,468,335 (GRCm39) V9M probably damaging Het
Or12d12 T A 17: 37,610,870 (GRCm39) T148S probably benign Het
Or3a10 A G 11: 73,935,525 (GRCm39) C192R probably damaging Het
Or4f6 T C 2: 111,838,668 (GRCm39) T288A possibly damaging Het
Or5l13 T A 2: 87,779,874 (GRCm39) R234S probably damaging Het
Or8g23 A G 9: 38,971,470 (GRCm39) I164T probably benign Het
Pdzd7 T C 19: 45,034,067 (GRCm39) T6A probably benign Het
Picalm T A 7: 89,838,427 (GRCm39) F493Y probably damaging Het
Prl7d1 A G 13: 27,900,651 (GRCm39) M1T probably null Het
Prl8a1 T C 13: 27,759,441 (GRCm39) K199E possibly damaging Het
Rims1 C T 1: 22,498,740 (GRCm39) R764H probably damaging Het
Rnf17 G T 14: 56,712,870 (GRCm39) R779L possibly damaging Het
Rufy2 T C 10: 62,833,916 (GRCm39) L294P probably damaging Het
Sgsh A G 11: 119,241,773 (GRCm39) L111P probably damaging Het
Slc22a30 G T 19: 8,314,213 (GRCm39) T491K probably benign Het
Slc35b3 T C 13: 39,127,044 (GRCm39) N20D possibly damaging Het
Slc5a4a T C 10: 76,017,489 (GRCm39) F429L probably benign Het
Sulf1 T C 1: 12,887,636 (GRCm39) I270T probably damaging Het
Tmem51 T C 4: 141,759,059 (GRCm39) T230A probably damaging Het
Tnc T A 4: 63,926,947 (GRCm39) I860F probably damaging Het
Trh A T 6: 92,220,679 (GRCm39) V61E possibly damaging Het
Ttn T G 2: 76,584,443 (GRCm39) T22222P probably damaging Het
Uroc1 A T 6: 90,338,494 (GRCm39) K652* probably null Het
Usp34 C T 11: 23,439,033 (GRCm39) P3532S possibly damaging Het
Vmn2r120 A T 17: 57,831,954 (GRCm39) F278L probably benign Het
Vmn2r7 A G 3: 64,627,032 (GRCm39) F86L possibly damaging Het
Vmn2r87 A T 10: 130,315,856 (GRCm39) I70K possibly damaging Het
Vps13a C T 19: 16,722,317 (GRCm39) A332T probably benign Het
Zfp568 T A 7: 29,722,821 (GRCm39) C589S probably damaging 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
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'- CAAGCGCAACCTCTCCTATG -3'
(R):5'- AGGGAGCTACTATCATAATGCTCATC -3'

Sequencing Primer
(F):5'- TGGAGACAACAGCGACCCTG -3'
(R):5'- TCATAATGCTCATCTGGGAAGAGGTC -3'
Posted On 2015-04-06