Incidental Mutation 'R7767:Dlgap4'
ID 598277
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 045823-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R7767 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 156455625-156606283 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 156587973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 606 (R606W)
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: R623W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000068745
Gene: ENSMUSG00000061689
AA Change: R623W

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 damaging
Transcript: ENSMUST00000099145
AA Change: R84W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096749
Gene: ENSMUSG00000061689
AA Change: R84W

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: R623W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105195
Gene: ENSMUSG00000061689
AA Change: R623W

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 damaging
Transcript: ENSMUST00000109568
AA Change: R606W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105196
Gene: ENSMUSG00000061689
AA Change: R606W

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 probably damaging
Transcript: ENSMUST00000169464
AA Change: R623W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126980
Gene: ENSMUSG00000061689
AA Change: R623W

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
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox4 C A 1: 58,274,366 (GRCm39) S384Y probably damaging Het
Arhgef15 T C 11: 68,844,673 (GRCm39) E308G probably damaging Het
Asb15 A G 6: 24,559,281 (GRCm39) D142G probably benign Het
Atg13 A G 2: 91,509,711 (GRCm39) S394P probably damaging Het
Atp10a G C 7: 58,308,597 (GRCm39) W132S probably damaging Het
Bltp1 G T 3: 36,974,436 (GRCm39) probably null Het
Bod1l T A 5: 41,974,099 (GRCm39) N2405I probably benign Het
Capsl C T 15: 9,462,770 (GRCm39) R137C probably damaging Het
Cd109 T A 9: 78,617,441 (GRCm39) M1313K probably damaging Het
Chst13 G A 6: 90,286,566 (GRCm39) A132V possibly damaging Het
Cobl T C 11: 12,362,117 (GRCm39) probably benign Het
Coq9 A T 8: 95,577,214 (GRCm39) E193V probably benign Het
Cpd T A 11: 76,704,385 (GRCm39) I410F probably benign Het
Cyth3 T G 5: 143,693,229 (GRCm39) V351G probably damaging Het
Dcdc2c T C 12: 28,520,256 (GRCm39) K607E Het
Dcp1a T C 14: 30,201,775 (GRCm39) probably null Het
Dennd3 A G 15: 73,394,079 (GRCm39) I35V probably benign Het
Dnhd1 A G 7: 105,343,817 (GRCm39) I1720M probably benign Het
Erbin A G 13: 103,995,907 (GRCm39) L265P probably damaging Het
Ern1 T C 11: 106,291,134 (GRCm39) D847G probably damaging Het
Esyt3 T G 9: 99,207,024 (GRCm39) S342R probably benign Het
Exoc2 A T 13: 31,060,752 (GRCm39) I584K probably benign Het
Fam240a T C 9: 110,744,090 (GRCm39) R50G probably damaging Het
Glis3 A T 19: 28,241,360 (GRCm39) M858K probably benign Het
Gls2 C T 10: 128,030,998 (GRCm39) R86C unknown Het
Gm10972 C A 3: 94,550,901 (GRCm39) Y25* probably null Het
H2-T10 A T 17: 36,428,622 (GRCm39) M350K probably benign Het
Has1 A T 17: 18,070,792 (GRCm39) V43D probably damaging Het
Herc2 T A 7: 55,878,275 (GRCm39) S4609R probably benign Het
Hmgcs2 A C 3: 98,198,582 (GRCm39) T162P probably damaging Het
Hspg2 G T 4: 137,239,177 (GRCm39) C368F probably damaging Het
Ighv11-1 A G 12: 113,945,722 (GRCm39) S44P probably damaging Het
Inppl1 A G 7: 101,473,545 (GRCm39) V1035A probably benign Het
Kmt2a C T 9: 44,730,295 (GRCm39) V3341I unknown Het
Lrp1b T C 2: 40,691,517 (GRCm39) N3434S Het
Lrriq1 G C 10: 103,051,815 (GRCm39) S312R probably damaging Het
Map1a G A 2: 121,132,517 (GRCm39) S1111N probably damaging Het
Myo15a T C 11: 60,392,922 (GRCm39) V1029A Het
Nol11 T C 11: 107,069,908 (GRCm39) H314R possibly damaging Het
Nphs1 A T 7: 30,162,733 (GRCm39) D404V probably damaging Het
Odr4 A G 1: 150,247,788 (GRCm39) V387A probably benign Het
Or51r1 A T 7: 102,220,971 (GRCm39) probably benign Het
Pabpc2 T C 18: 39,907,607 (GRCm39) Y291H possibly damaging Het
Pcdh15 G A 10: 74,322,088 (GRCm39) A1020T probably benign Het
Pla2g4f A C 2: 120,135,490 (GRCm39) S395A possibly damaging Het
Ppp1r18 A G 17: 36,178,176 (GRCm39) Q17R probably damaging Het
Prokr2 A T 2: 132,215,996 (GRCm39) V155D probably damaging Het
Pwwp2a T G 11: 43,596,696 (GRCm39) C620W probably damaging Het
Rabepk T C 2: 34,675,605 (GRCm39) D175G probably damaging Het
Rad54l T C 4: 115,956,866 (GRCm39) Y485C probably damaging Het
Rasef A G 4: 73,652,771 (GRCm39) S577P probably damaging Het
Rgma C A 7: 73,067,752 (GRCm39) L446I unknown Het
Rnf212b T C 14: 55,079,825 (GRCm39) S182P probably damaging Het
Rnf6 C A 5: 146,147,986 (GRCm39) R344I probably damaging Het
Rnf6 T A 5: 146,147,987 (GRCm39) R344* probably null Het
Sgo1 A G 17: 53,986,639 (GRCm39) I184T possibly damaging Het
Sgpl1 A T 10: 60,953,502 (GRCm39) I78N possibly damaging Het
Snx13 T A 12: 35,157,483 (GRCm39) Y510N probably damaging Het
Sptbn2 G A 19: 4,784,171 (GRCm39) E638K possibly damaging Het
Sspo A G 6: 48,428,316 (GRCm39) T349A probably damaging Het
Sv2c C T 13: 96,126,223 (GRCm39) S343N probably damaging Het
Syne1 C A 10: 5,283,560 (GRCm39) V1502F possibly damaging Het
Syne1 T A 10: 5,283,632 (GRCm39) I1478F possibly damaging Het
Tmem121 C T 12: 113,151,992 (GRCm39) A70V probably damaging Het
Tmem215 A G 4: 40,474,042 (GRCm39) I40V possibly damaging Het
Trim25 A G 11: 88,899,943 (GRCm39) probably null Het
Trio A G 15: 27,889,504 (GRCm39) V534A unknown Het
Tyr T A 7: 87,142,218 (GRCm39) E114V probably benign Het
Ush2a A T 1: 188,285,457 (GRCm39) T1998S probably benign Het
Usp40 G T 1: 87,909,900 (GRCm39) A518E probably benign Het
Usp48 T A 4: 137,331,956 (GRCm39) probably null Het
Vash1 T A 12: 86,733,767 (GRCm39) F152L probably damaging Het
Vsig10l C A 7: 43,113,141 (GRCm39) P31Q probably damaging Het
Xab2 C T 8: 3,669,018 (GRCm39) E43K probably benign Het
Zfp423 G A 8: 88,507,512 (GRCm39) S944F probably damaging Het
Zp2 A T 7: 119,736,392 (GRCm39) D350E probably benign Het
Zscan4e T G 7: 11,041,461 (GRCm39) Q165P 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
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
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'- TAGTGGCATATAAGAAGACCCCAC -3'
(R):5'- TAATTACACGCAGGCCGGTG -3'

Sequencing Primer
(F):5'- ACCGGTCCCTCCACGAAC -3'
(R):5'- CCGGTGCACAGAGTAGAC -3'
Posted On 2019-11-26