Incidental Mutation 'R9522:Dlgap4'
ID 718931
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R9522 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 156455625-156606283 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 156546514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 394 (R394L)
Ref Sequence ENSEMBL: ENSMUSP00000105196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070782] [ENSMUST00000109567] [ENSMUST00000109568] [ENSMUST00000169464]
AlphaFold B1AZP2
Predicted Effect probably damaging
Transcript: ENSMUST00000070782
AA Change: R394L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000068745
Gene: ENSMUSG00000061689
AA Change: R394L

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: ENSMUST00000109567
AA Change: R394L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105195
Gene: ENSMUSG00000061689
AA Change: R394L

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: R394L

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105196
Gene: ENSMUSG00000061689
AA Change: R394L

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: R394L

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000126980
Gene: ENSMUSG00000061689
AA Change: R394L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,847,368 (GRCm39) Y744F probably null Het
Adam17 C A 12: 21,395,693 (GRCm39) V277F probably damaging Het
Adcy8 C T 15: 64,792,560 (GRCm39) C132Y probably damaging Het
Adgrf3 G A 5: 30,404,482 (GRCm39) P318L possibly damaging Het
Ahcyl1 A T 3: 107,579,398 (GRCm39) I212N probably damaging Het
Allc A T 12: 28,620,653 (GRCm39) F33I probably damaging Het
Arhgap32 A G 9: 32,027,450 (GRCm39) T7A probably benign Het
Bbs4 A G 9: 59,260,691 (GRCm39) probably null Het
Btbd1 G T 7: 81,479,081 (GRCm39) P20H unknown Het
Cass4 A G 2: 172,269,348 (GRCm39) I477V possibly damaging Het
Cep83 A G 10: 94,586,184 (GRCm39) E362G probably damaging Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Cimip2c A T 5: 30,623,467 (GRCm39) S5C probably damaging Het
Cntnap5b A G 1: 100,412,347 (GRCm39) D896G probably benign Het
Crocc2 T C 1: 93,117,429 (GRCm39) V305A probably benign Het
Cse1l G A 2: 166,776,673 (GRCm39) V495I probably benign Het
Ctsj A T 13: 61,152,257 (GRCm39) Y36* probably null Het
Ctss T G 3: 95,454,109 (GRCm39) D220E probably benign Het
Ctu1 T C 7: 43,324,900 (GRCm39) L113P probably benign Het
Cyp2d40 G A 15: 82,648,274 (GRCm39) A13V possibly damaging Het
Dhrs4 A T 14: 55,716,219 (GRCm39) probably benign Het
Dpysl5 C A 5: 30,935,399 (GRCm39) Y167* probably null Het
E4f1 C T 17: 24,666,096 (GRCm39) G234D probably damaging Het
Eif3g G T 9: 20,809,451 (GRCm39) T27N probably benign Het
Eif3g T A 9: 20,809,452 (GRCm39) T27S probably benign Het
Fcrl2 A G 3: 87,164,101 (GRCm39) F343L possibly damaging Het
Fdft1 T C 14: 63,396,597 (GRCm39) probably null Het
Hsd3b9 T C 3: 98,353,783 (GRCm39) S239G probably benign Het
Igf2r G T 17: 12,917,215 (GRCm39) Q1562K probably benign Het
Ilf3 G A 9: 21,305,533 (GRCm39) V232I probably benign Het
Irx5 C T 8: 93,087,259 (GRCm39) T397M possibly damaging Het
Kif16b A T 2: 142,691,827 (GRCm39) V219D probably damaging Het
Klkb1 T C 8: 45,730,052 (GRCm39) I276M probably benign Het
Large2 A G 2: 92,200,266 (GRCm39) L115P probably damaging Het
Lrrc3b T C 14: 15,358,423 (GRCm38) D61G probably benign Het
Map7 A G 10: 20,105,642 (GRCm39) Y31C possibly damaging Het
Moxd2 T A 6: 40,857,375 (GRCm39) I462F probably benign Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or5b98 T A 19: 12,931,377 (GRCm39) C141* probably null Het
Or9m2 G A 2: 87,821,175 (GRCm39) C240Y probably damaging Het
Phf20l1 T C 15: 66,504,669 (GRCm39) V770A possibly damaging Het
Ppfia4 G A 1: 134,240,886 (GRCm39) A819V probably damaging Het
Qrfpr A G 3: 36,236,676 (GRCm39) W242R probably damaging Het
Rgs3 A G 4: 62,523,729 (GRCm39) I53M probably benign Het
Rif1 T C 2: 51,971,311 (GRCm39) F263S probably damaging Het
Rpl22l1 T C 3: 28,860,743 (GRCm39) probably null Het
Ryr3 T A 2: 112,560,759 (GRCm39) I3001F probably benign Het
Safb2 A G 17: 56,873,900 (GRCm39) I675T probably damaging Het
Scart2 T A 7: 139,853,987 (GRCm39) I330N possibly damaging Het
Sec16b C T 1: 157,392,335 (GRCm39) S901L probably damaging Het
Setd5 T G 6: 113,091,995 (GRCm39) I272S probably damaging Het
Slc40a1 A T 1: 45,948,672 (GRCm39) M536K probably damaging Het
Slfn3 T C 11: 83,103,825 (GRCm39) V232A probably benign Het
Spata31d1b T C 13: 59,864,780 (GRCm39) S643P probably benign Het
Tbc1d23 T C 16: 57,019,107 (GRCm39) D251G probably benign Het
Tbccd1 T C 16: 22,641,249 (GRCm39) E376G possibly damaging Het
Tmem184a G T 5: 139,791,485 (GRCm39) P368T probably benign Het
Top1mt T C 15: 75,539,309 (GRCm39) D362G probably damaging Het
Top6bl T C 19: 4,677,274 (GRCm39) H612R probably benign Het
Ugt3a1 C A 15: 9,370,209 (GRCm39) P451H probably damaging Het
Unc80 G A 1: 66,677,221 (GRCm39) C2050Y possibly damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Vmn1r179 T C 7: 23,628,202 (GRCm39) V131A probably damaging Het
Wdr89 A G 12: 75,679,924 (GRCm39) F110S probably damaging Het
Znrf3 T C 11: 5,232,379 (GRCm39) Y282C probably damaging Het
Zscan18 T C 7: 12,503,297 (GRCm39) D754G possibly 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
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
Predicted Primers PCR Primer
(F):5'- CCTGTCTTCGGATATTCCAGG -3'
(R):5'- CCTCGGGTGGAAATACTGTCAG -3'

Sequencing Primer
(F):5'- TTCGGATATTCCAGGTGCCCG -3'
(R):5'- TGTCAGGACAGGCTCCCATTAAG -3'
Posted On 2022-07-18