Incidental Mutation 'R8104:Dlgap3'
ID 643164
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 067535-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R8104 (G1)
Quality Score 67.029
Status Validated
Chromosome 4
Chromosomal Location 127062997-127130815 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127129947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 907 (E907G)
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: E907G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039724
Gene: ENSMUSG00000042388
AA Change: E907G

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: E896G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101698
Gene: ENSMUSG00000042388
AA Change: E896G

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: E907G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101700
Gene: ENSMUSG00000042388
AA Change: E907G

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
Meta Mutation Damage Score 0.4690 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 98.6%
  • 20x: 94.6%
Validation Efficiency 98% (54/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg2 C A 17: 57,152,443 (GRCm39) L666F probably benign Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Apoc3 T G 9: 46,144,585 (GRCm39) D79A probably damaging Het
Arfgap1 T A 2: 180,621,022 (GRCm39) probably null Het
Ascc1 T C 10: 59,843,551 (GRCm39) S38P probably benign Het
Asl C T 5: 130,040,791 (GRCm39) E389K probably benign Het
Atat1 A T 17: 36,215,008 (GRCm39) I215K probably benign Het
Bod1l A T 5: 41,991,075 (GRCm39) L160* probably null Het
Cbl C A 9: 44,069,836 (GRCm39) S637I possibly damaging Het
Ccdc112 A C 18: 46,420,720 (GRCm39) S343R probably benign Het
Cr1l A G 1: 194,799,925 (GRCm39) S250P possibly damaging Het
Cspg4b T A 13: 113,456,263 (GRCm39) F770I Het
Dsp A T 13: 38,352,600 (GRCm39) E159D probably benign Het
Ech1 G A 7: 28,524,728 (GRCm39) probably benign Het
Erbin G T 13: 103,971,485 (GRCm39) N710K possibly damaging Het
Fbxw28 A T 9: 109,155,357 (GRCm39) probably null Het
Gm4871 G C 5: 144,969,012 (GRCm39) D100E probably damaging Het
Got1l1 A G 8: 27,687,619 (GRCm39) I388T probably damaging Het
Ing5 T A 1: 93,744,166 (GRCm39) N184K probably damaging Het
Izumo3 A T 4: 92,035,145 (GRCm39) L24* probably null Het
Lig1 T C 7: 13,020,491 (GRCm39) V99A possibly damaging Het
Mbtps1 A G 8: 120,255,794 (GRCm39) Y488H possibly damaging Het
Muc5ac A G 7: 141,358,520 (GRCm39) Y1240C possibly damaging Het
Nav3 T C 10: 109,594,828 (GRCm39) T1458A probably damaging Het
Nedd1 T C 10: 92,527,778 (GRCm39) E472G probably damaging Het
Nod2 A T 8: 89,391,685 (GRCm39) H664L possibly damaging Het
Ntrk3 A G 7: 78,227,450 (GRCm39) S28P probably damaging Het
Or14a257 A G 7: 86,138,231 (GRCm39) F176S probably damaging Het
Or1i2 C T 10: 78,448,242 (GRCm39) V78I probably benign Het
Or2ag17 T A 7: 106,390,338 (GRCm39) probably benign Het
Or2ag17 C A 7: 106,390,337 (GRCm39) probably benign Het
Or6c66b T A 10: 129,376,826 (GRCm39) M140K probably benign Het
Pcdha4 G T 18: 37,087,106 (GRCm39) G430W probably damaging Het
Pcnx1 T A 12: 82,030,385 (GRCm39) Y1114* probably null Het
Pde6a T A 18: 61,364,566 (GRCm39) D207E probably damaging Het
Plekhg1 T A 10: 3,902,326 (GRCm39) I540N Het
Pnp2 A T 14: 51,197,099 (GRCm39) I62F probably benign Het
Rarg C A 15: 102,148,334 (GRCm39) D258Y probably damaging Het
Rnps1 T A 17: 24,643,484 (GRCm39) M262K unknown Het
Scaf11 T C 15: 96,316,483 (GRCm39) D1027G probably benign Het
Serpina3a A T 12: 104,079,110 (GRCm39) probably benign Het
Slc25a1 A G 16: 17,744,297 (GRCm39) probably null Het
Slc44a3 A C 3: 121,291,521 (GRCm39) V365G probably benign Het
Slc45a3 T C 1: 131,904,754 (GRCm39) F26L probably benign Het
Slc9a2 T A 1: 40,757,809 (GRCm39) I116K probably damaging Het
Stk36 T A 1: 74,665,756 (GRCm39) S700T probably benign Het
Tekt3 A G 11: 62,968,945 (GRCm39) D224G probably benign Het
Tgtp1 A T 11: 48,877,841 (GRCm39) I288N probably damaging Het
Ttn C T 2: 76,710,567 (GRCm39) V8485M unknown Het
Tubg1 G T 11: 101,014,854 (GRCm39) A199S probably benign Het
Uso1 T A 5: 92,306,280 (GRCm39) I79K probably damaging Het
Utp20 C T 10: 88,593,766 (GRCm39) D2215N probably damaging Het
Wdr43 C T 17: 71,923,350 (GRCm39) A32V probably benign Het
Zfp704 T C 3: 9,630,301 (GRCm39) D170G probably benign 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
R8853:Dlgap3 UTSW 4 127,088,810 (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'- GGTACAGGGGTTTTGACCAG -3'
(R):5'- TAGATCTCGATGCTGTCCGC -3'

Sequencing Primer
(F):5'- GACCAGCTTTGACCTCGTG -3'
(R):5'- GATGCTGTCCGCGCTCTC -3'
Posted On 2020-08-07