Incidental Mutation 'R8853:Dlgap3'
ID 675098
Institutional Source Beutler Lab
Gene Symbol Dlgap3
Ensembl Gene ENSMUSG00000042388
Gene Name DLG associated protein 3
Synonyms Prpl8, SAP90/PSD 95 associated protein 3, DAP3, Sapap3, PSD-95/SAP90-binding protein 3
MMRRC Submission 068675-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R8853 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 127062997-127130815 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127088810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 135 (D135E)
Ref Sequence ENSEMBL: ENSMUSP00000039724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046659] [ENSMUST00000106092] [ENSMUST00000106094]
AlphaFold Q6PFD5
Predicted Effect probably damaging
Transcript: ENSMUST00000046659
AA Change: D135E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039724
Gene: ENSMUSG00000042388
AA Change: D135E

DomainStartEndE-ValueType
low complexity region 53 88 N/A INTRINSIC
low complexity region 145 159 N/A INTRINSIC
low complexity region 200 243 N/A INTRINSIC
low complexity region 258 284 N/A INTRINSIC
low complexity region 338 354 N/A INTRINSIC
internal_repeat_1 387 411 6.49e-5 PROSPERO
low complexity region 419 429 N/A INTRINSIC
internal_repeat_1 493 517 6.49e-5 PROSPERO
low complexity region 539 550 N/A INTRINSIC
low complexity region 597 615 N/A INTRINSIC
Pfam:GKAP 619 977 1.3e-137 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106092
AA Change: D135E

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101698
Gene: ENSMUSG00000042388
AA Change: D135E

DomainStartEndE-ValueType
low complexity region 53 88 N/A INTRINSIC
low complexity region 145 159 N/A INTRINSIC
low complexity region 200 243 N/A INTRINSIC
low complexity region 258 284 N/A INTRINSIC
low complexity region 338 354 N/A INTRINSIC
internal_repeat_1 387 411 5.59e-5 PROSPERO
low complexity region 419 429 N/A INTRINSIC
internal_repeat_1 493 517 5.59e-5 PROSPERO
low complexity region 539 550 N/A INTRINSIC
low complexity region 597 615 N/A INTRINSIC
Pfam:GKAP 619 966 1.8e-127 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106094
AA Change: D135E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101700
Gene: ENSMUSG00000042388
AA Change: D135E

DomainStartEndE-ValueType
low complexity region 53 88 N/A INTRINSIC
low complexity region 145 159 N/A INTRINSIC
low complexity region 200 243 N/A INTRINSIC
low complexity region 258 284 N/A INTRINSIC
low complexity region 338 354 N/A INTRINSIC
internal_repeat_1 387 411 6.49e-5 PROSPERO
low complexity region 419 429 N/A INTRINSIC
internal_repeat_1 493 517 6.49e-5 PROSPERO
low complexity region 539 550 N/A INTRINSIC
low complexity region 597 615 N/A INTRINSIC
Pfam:GKAP 626 977 1.3e-149 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (56/57)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit skin lesions associated with excessive grooming, increased anxiety-related behaviors, altered synaptic transmission and abnormal sleep patterns. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1 A T 6: 48,882,994 (GRCm39) Y290F probably benign Het
Ap5m1 T A 14: 49,311,337 (GRCm39) L136M possibly damaging Het
Arpp21 T G 9: 111,976,516 (GRCm39) T322P probably damaging Het
Atp6v1c2 C T 12: 17,351,148 (GRCm39) V128M possibly damaging Het
C4b A G 17: 34,948,879 (GRCm39) V1523A possibly damaging Het
Copg2 G C 6: 30,803,115 (GRCm39) L277V probably benign Het
Cyp2b19 A G 7: 26,456,645 (GRCm39) T12A possibly damaging Het
D5Ertd579e A T 5: 36,787,024 (GRCm39) C115S probably damaging Het
Defb35 G A 8: 22,430,806 (GRCm39) R60Q unknown Het
Dync2h1 A T 9: 7,117,645 (GRCm39) W2215R possibly damaging Het
Eea1 G C 10: 95,857,517 (GRCm39) A660P Het
Egfr A G 11: 16,858,885 (GRCm39) I955V possibly damaging Het
Eif3b G A 5: 140,425,774 (GRCm39) V655M probably damaging Het
Elp3 T A 14: 65,815,390 (GRCm39) I220F probably benign Het
Ern2 A G 7: 121,772,967 (GRCm39) V550A probably damaging Het
Evc G A 5: 37,460,647 (GRCm39) S857L possibly damaging Het
Glt28d2 T A 3: 85,779,087 (GRCm39) M129L probably benign Het
Hcn1 ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC 13: 118,112,269 (GRCm39) probably benign Het
Hmcn1 A T 1: 150,547,726 (GRCm39) Y2742N probably damaging Het
Klhl6 T A 16: 19,765,979 (GRCm39) Q541L possibly damaging Het
Myh14 G A 7: 44,265,678 (GRCm39) T1559I probably benign Het
Myo7b A G 18: 32,119,744 (GRCm39) F783L possibly damaging Het
Myrip C T 9: 120,290,487 (GRCm39) A702V probably damaging Het
Ndnf C A 6: 65,680,161 (GRCm39) Q147K probably benign Het
Necab2 C G 8: 120,189,339 (GRCm39) R170G possibly damaging Het
Nfatc4 T C 14: 56,063,690 (GRCm39) I59T probably damaging Het
Nfix A G 8: 85,454,276 (GRCm39) S211P probably damaging Het
Nlrp5 A T 7: 23,117,725 (GRCm39) Q483L possibly damaging Het
Or6k14 T C 1: 173,927,861 (GRCm39) V279A probably damaging Het
Pde4a A G 9: 21,106,119 (GRCm39) T245A possibly damaging Het
Peli2 C T 14: 48,493,945 (GRCm39) T389M probably damaging Het
Pfas T C 11: 68,883,744 (GRCm39) K638E probably damaging Het
Pkhd1 A G 1: 20,143,679 (GRCm39) probably null Het
Plch1 T C 3: 63,688,967 (GRCm39) D67G probably damaging Het
Plcl2 A T 17: 50,913,884 (GRCm39) R298* probably null Het
Ppp1r13l A G 7: 19,103,893 (GRCm39) I125V probably benign Het
Ppp2r3d A G 9: 101,090,110 (GRCm39) V71A probably benign Het
Pvr A G 7: 19,650,897 (GRCm39) V209A possibly damaging Het
Rap1gap2 A G 11: 74,298,198 (GRCm39) L414P probably damaging Het
Rasgrp2 A G 19: 6,464,855 (GRCm39) D601G probably damaging Het
Reck T A 4: 43,912,089 (GRCm39) N199K probably benign Het
Rin2 G T 2: 145,718,475 (GRCm39) A652S possibly damaging Het
Rnf34 T C 5: 123,002,087 (GRCm39) L88P possibly damaging Het
Serpina3m A G 12: 104,355,914 (GRCm39) I194V probably benign Het
Spred3 A G 7: 28,861,415 (GRCm39) S255P probably benign Het
Sult2a7 A G 7: 14,225,641 (GRCm39) probably null Het
Synpo2l C A 14: 20,711,442 (GRCm39) G622C probably damaging Het
Tenm3 A G 8: 48,795,382 (GRCm39) C582R probably damaging Het
Tex261 A T 6: 83,750,727 (GRCm39) I90N probably damaging Het
Trappc11 A G 8: 47,982,439 (GRCm39) F100S probably damaging Het
Trhde G A 10: 114,636,830 (GRCm39) P126S probably benign Het
Vmn2r53 A T 7: 12,315,737 (GRCm39) V694E probably damaging Het
Vmn2r54 A T 7: 12,349,782 (GRCm39) L600Q probably damaging Het
Vwf G A 6: 125,634,227 (GRCm39) C2174Y Het
Wee2 A G 6: 40,441,200 (GRCm39) T502A probably benign Het
Zfp112 A T 7: 23,823,390 (GRCm39) silent Het
Zfp40 T A 17: 23,394,691 (GRCm39) H632L possibly damaging Het
Zmynd11 T C 13: 9,740,965 (GRCm39) S378G probably damaging Het
Other mutations in Dlgap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01667:Dlgap3 APN 4 127,127,690 (GRCm39) missense probably benign 0.01
IGL03122:Dlgap3 APN 4 127,089,018 (GRCm39) missense possibly damaging 0.86
IGL03259:Dlgap3 APN 4 127,094,077 (GRCm39) missense probably benign 0.05
Compulsive UTSW 4 127,089,502 (GRCm39) nonsense probably null
R0363:Dlgap3 UTSW 4 127,129,314 (GRCm39) missense probably damaging 1.00
R1222:Dlgap3 UTSW 4 127,088,406 (GRCm39) start codon destroyed probably null 0.01
R1386:Dlgap3 UTSW 4 127,088,719 (GRCm39) missense possibly damaging 0.81
R1603:Dlgap3 UTSW 4 127,089,021 (GRCm39) missense probably damaging 1.00
R2073:Dlgap3 UTSW 4 127,089,159 (GRCm39) missense probably damaging 0.99
R2119:Dlgap3 UTSW 4 127,129,982 (GRCm39) missense probably benign
R2696:Dlgap3 UTSW 4 127,088,416 (GRCm39) missense probably damaging 1.00
R3076:Dlgap3 UTSW 4 127,089,499 (GRCm39) missense probably damaging 1.00
R3738:Dlgap3 UTSW 4 127,089,399 (GRCm39) missense probably damaging 0.99
R4344:Dlgap3 UTSW 4 127,108,141 (GRCm39) missense possibly damaging 0.84
R4676:Dlgap3 UTSW 4 127,127,554 (GRCm39) missense probably damaging 0.99
R4720:Dlgap3 UTSW 4 127,089,508 (GRCm39) critical splice donor site probably null
R4893:Dlgap3 UTSW 4 127,088,776 (GRCm39) missense probably damaging 1.00
R5384:Dlgap3 UTSW 4 127,130,123 (GRCm39) missense probably damaging 1.00
R5841:Dlgap3 UTSW 4 127,089,193 (GRCm39) missense probably damaging 1.00
R5870:Dlgap3 UTSW 4 127,089,502 (GRCm39) nonsense probably null
R6379:Dlgap3 UTSW 4 127,128,767 (GRCm39) missense probably damaging 1.00
R7028:Dlgap3 UTSW 4 127,089,310 (GRCm39) missense possibly damaging 0.74
R7454:Dlgap3 UTSW 4 127,128,852 (GRCm39) missense probably null 0.01
R7479:Dlgap3 UTSW 4 127,088,418 (GRCm39) missense possibly damaging 0.72
R8104:Dlgap3 UTSW 4 127,129,947 (GRCm39) missense probably damaging 0.99
R8921:Dlgap3 UTSW 4 127,127,463 (GRCm39) missense probably damaging 0.99
R9483:Dlgap3 UTSW 4 127,127,665 (GRCm39) missense probably damaging 0.96
R9717:Dlgap3 UTSW 4 127,129,287 (GRCm39) missense probably damaging 1.00
R9777:Dlgap3 UTSW 4 127,130,127 (GRCm39) missense possibly damaging 0.87
X0024:Dlgap3 UTSW 4 127,129,965 (GRCm39) missense probably damaging 1.00
Z1177:Dlgap3 UTSW 4 127,129,291 (GRCm39) missense probably damaging 1.00
Z1177:Dlgap3 UTSW 4 127,088,777 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTGAGTGAGGGTCCATCATCAGTAG -3'
(R):5'- CTTGGGCCCGTTATAGTCTC -3'

Sequencing Primer
(F):5'- TCCATCATCAGTAGGCCCTGAG -3'
(R):5'- ATAGTCTCGCTTCCCGGGTG -3'
Posted On 2021-07-15