Incidental Mutation 'R4581:Dlgap2'
ID 343679
Institutional Source Beutler Lab
Gene Symbol Dlgap2
Ensembl Gene ENSMUSG00000047495
Gene Name DLG associated protein 2
Synonyms PSD-95/SAP90-binding protein 2, DAP2, Sapap2, 6430596N04Rik, SAP90/PSD-95-associated protein 2
MMRRC Submission 041802-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4581 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 14095865-14847680 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14846679 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 1052 (Y1052H)
Ref Sequence ENSEMBL: ENSMUSP00000123078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043279] [ENSMUST00000133298] [ENSMUST00000150247] [ENSMUST00000152652]
AlphaFold Q8BJ42
Predicted Effect probably damaging
Transcript: ENSMUST00000043279
AA Change: Y1051H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: Y1051H

DomainStartEndE-ValueType
low complexity region 269 294 N/A INTRINSIC
low complexity region 297 310 N/A INTRINSIC
low complexity region 446 456 N/A INTRINSIC
low complexity region 543 556 N/A INTRINSIC
low complexity region 614 628 N/A INTRINSIC
Pfam:GKAP 707 1059 1.5e-151 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129119
Predicted Effect probably damaging
Transcript: ENSMUST00000133298
AA Change: Y1051H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: Y1051H

DomainStartEndE-ValueType
low complexity region 269 294 N/A INTRINSIC
low complexity region 297 310 N/A INTRINSIC
low complexity region 446 456 N/A INTRINSIC
low complexity region 543 556 N/A INTRINSIC
low complexity region 614 628 N/A INTRINSIC
Pfam:GKAP 707 1059 1.5e-151 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000150247
AA Change: Y1037H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: Y1037H

DomainStartEndE-ValueType
low complexity region 269 294 N/A INTRINSIC
low complexity region 297 310 N/A INTRINSIC
low complexity region 446 456 N/A INTRINSIC
low complexity region 543 556 N/A INTRINSIC
low complexity region 614 628 N/A INTRINSIC
Pfam:GKAP 707 1045 1e-151 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000152652
AA Change: Y1052H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: Y1052H

DomainStartEndE-ValueType
low complexity region 270 295 N/A INTRINSIC
low complexity region 298 311 N/A INTRINSIC
low complexity region 447 457 N/A INTRINSIC
low complexity region 544 557 N/A INTRINSIC
low complexity region 615 629 N/A INTRINSIC
Pfam:GKAP 715 1060 1.9e-160 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a membrane-associated protein that may play a role in synapse organization and signalling in neuronal cells. This gene is biallelically expressed in the brain, however, only the paternal allele is expressed in the testis (PMID:18055845). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2014]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik C A 15: 8,171,798 (GRCm38) P20T possibly damaging Het
3425401B19Rik G T 14: 32,661,871 (GRCm38) S712R possibly damaging Het
4933427I04Rik A G 4: 123,860,353 (GRCm38) D20G possibly damaging Het
Abca7 A G 10: 80,006,568 (GRCm38) D1112G probably benign Het
Actc1 G T 2: 114,049,608 (GRCm38) H175N possibly damaging Het
Adgrd1 C T 5: 129,202,531 (GRCm38) A863V possibly damaging Het
Ankrd17 T C 5: 90,283,120 (GRCm38) D935G possibly damaging Het
Ankrd7 T A 6: 18,868,021 (GRCm38) N95K probably damaging Het
Arhgef4 G A 1: 34,732,124 (GRCm38) E1171K possibly damaging Het
Ascc3 T C 10: 50,711,025 (GRCm38) I991T probably damaging Het
Cacna1s T A 1: 136,070,970 (GRCm38) probably null Het
Camk1d A T 2: 5,354,704 (GRCm38) V177E probably benign Het
Cdh18 T A 15: 23,226,783 (GRCm38) I110N probably damaging Het
Cenpe A G 3: 135,247,000 (GRCm38) K1484E probably benign Het
Cep68 A G 11: 20,239,333 (GRCm38) S560P probably benign Het
Cog3 G T 14: 75,732,951 (GRCm38) T352K probably benign Het
Cox6a2 A G 7: 128,205,980 (GRCm38) S44P possibly damaging Het
Csmd2 T C 4: 128,369,088 (GRCm38) V689A probably benign Het
Ddx60 A T 8: 62,023,261 (GRCm38) M1548L possibly damaging Het
Dennd5b G T 6: 149,016,984 (GRCm38) silent Het
Dnaaf5 T A 5: 139,184,685 (GRCm38) D502E probably damaging Het
Efhb C A 17: 53,426,275 (GRCm38) A523S probably damaging Het
Epha8 C T 4: 136,933,464 (GRCm38) V648M probably damaging Het
Fanca C T 8: 123,274,338 (GRCm38) probably null Het
Fbxw7 G A 3: 84,967,545 (GRCm38) E205K probably benign Het
Fer1l6 C T 15: 58,640,226 (GRCm38) T1514I probably damaging Het
Gm12886 T C 4: 121,416,683 (GRCm38) E112G probably damaging Het
Gm7535 T C 17: 17,911,083 (GRCm38) probably benign Het
Irf2bp2 T A 8: 126,591,255 (GRCm38) Q524L probably damaging Het
Itih4 A G 14: 30,900,968 (GRCm38) D864G probably benign Het
Kdm4c T G 4: 74,357,339 (GRCm38) probably null Het
Ltn1 A T 16: 87,402,024 (GRCm38) probably null Het
Mafa G T 15: 75,747,736 (GRCm38) P63T unknown Het
Mars2 T A 1: 55,237,862 (GRCm38) L208H probably damaging Het
Myom2 A G 8: 15,106,459 (GRCm38) I769V probably benign Het
Nyap1 A G 5: 137,736,022 (GRCm38) S250P probably damaging Het
Olfr1082 A T 2: 86,594,228 (GRCm38) M200K probably benign Het
Osmr C T 15: 6,842,894 (GRCm38) V240I probably benign Het
Pcdhga3 A G 18: 37,676,881 (GRCm38) T796A probably benign Het
Pclo T C 5: 14,675,505 (GRCm38) V1459A unknown Het
Phactr3 A C 2: 178,283,172 (GRCm38) H300P probably damaging Het
Pla2g4e T G 2: 120,186,382 (GRCm38) H226P possibly damaging Het
Plcd4 T A 1: 74,548,224 (GRCm38) W48R probably damaging Het
Prdm16 A G 4: 154,323,353 (GRCm38) S1140P probably damaging Het
Rarg A C 15: 102,252,551 (GRCm38) S18A possibly damaging Het
Rfx4 T A 10: 84,844,300 (GRCm38) S114T possibly damaging Het
Sec14l4 G A 11: 4,043,375 (GRCm38) probably null Het
Six1 T G 12: 73,045,934 (GRCm38) T165P probably benign Het
Skint4 T C 4: 112,087,042 (GRCm38) L17P probably damaging Het
Slc25a23 T A 17: 57,052,740 (GRCm38) Y337F probably damaging Het
Slc9a3 A G 13: 74,164,165 (GRCm38) Y627C probably damaging Het
Smu1 A C 4: 40,737,401 (GRCm38) probably null Het
Spryd3 A G 15: 102,130,364 (GRCm38) S141P probably damaging Het
Src A T 2: 157,463,038 (GRCm38) N175I probably damaging Het
Srcap GCTCCTCCTCCTCCTCCT GCTCCTCCTCCTCCT 7: 127,558,310 (GRCm38) probably benign Het
Stc2 A G 11: 31,365,326 (GRCm38) probably null Het
Taf6l T C 19: 8,778,208 (GRCm38) D261G probably damaging Het
Tal1 T G 4: 115,064,722 (GRCm38) V167G probably damaging Het
Tfec G A 6: 16,834,125 (GRCm38) T261I probably damaging Het
Tgfb1 G T 7: 25,697,230 (GRCm38) S273I possibly damaging Het
Tmem8b T A 4: 43,685,760 (GRCm38) V636E probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trappc11 A T 8: 47,493,345 (GRCm38) M1084K probably damaging Het
Trem3 A C 17: 48,249,611 (GRCm38) T37P possibly damaging Het
Ttc7b G A 12: 100,500,117 (GRCm38) R79C probably damaging Het
Urb1 T C 16: 90,788,146 (GRCm38) D529G probably benign Het
Vmn2r8 T A 5: 108,801,704 (GRCm38) T426S probably benign Het
Yipf4 T C 17: 74,499,094 (GRCm38) Y243H probably benign Het
Zfp574 T A 7: 25,081,313 (GRCm38) C587S probably damaging Het
Zfp93 C A 7: 24,275,668 (GRCm38) H359Q probably damaging Het
Znfx1 T C 2: 167,050,316 (GRCm38) E660G probably damaging Het
Other mutations in Dlgap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01476:Dlgap2 APN 8 14,778,301 (GRCm38) nonsense probably null
IGL01788:Dlgap2 APN 8 14,843,631 (GRCm38) missense probably benign 0.19
IGL02054:Dlgap2 APN 8 14,843,552 (GRCm38) missense probably damaging 0.98
IGL02969:Dlgap2 APN 8 14,831,579 (GRCm38) missense possibly damaging 0.95
IGL03183:Dlgap2 APN 8 14,727,525 (GRCm38) missense possibly damaging 0.62
IGL03303:Dlgap2 APN 8 14,727,812 (GRCm38) missense probably damaging 0.99
G1Funyon:Dlgap2 UTSW 8 14,823,577 (GRCm38) missense probably benign 0.27
PIT4403001:Dlgap2 UTSW 8 14,831,528 (GRCm38) missense probably damaging 1.00
R0026:Dlgap2 UTSW 8 14,727,363 (GRCm38) nonsense probably null
R0242:Dlgap2 UTSW 8 14,727,562 (GRCm38) missense probably benign 0.34
R0242:Dlgap2 UTSW 8 14,727,562 (GRCm38) missense probably benign 0.34
R0647:Dlgap2 UTSW 8 14,727,591 (GRCm38) missense possibly damaging 0.95
R1221:Dlgap2 UTSW 8 14,726,952 (GRCm38) missense probably benign 0.08
R1374:Dlgap2 UTSW 8 14,831,228 (GRCm38) splice site probably benign
R1440:Dlgap2 UTSW 8 14,727,060 (GRCm38) missense probably benign
R1544:Dlgap2 UTSW 8 14,829,861 (GRCm38) splice site probably null
R1550:Dlgap2 UTSW 8 14,822,499 (GRCm38) missense probably damaging 0.98
R1804:Dlgap2 UTSW 8 14,727,809 (GRCm38) missense possibly damaging 0.71
R1870:Dlgap2 UTSW 8 14,773,347 (GRCm38) missense probably damaging 1.00
R1921:Dlgap2 UTSW 8 14,843,624 (GRCm38) missense probably benign 0.10
R2119:Dlgap2 UTSW 8 14,778,206 (GRCm38) missense possibly damaging 0.69
R2193:Dlgap2 UTSW 8 14,743,431 (GRCm38) missense possibly damaging 0.51
R4381:Dlgap2 UTSW 8 14,846,502 (GRCm38) missense probably benign
R4422:Dlgap2 UTSW 8 14,743,463 (GRCm38) critical splice donor site probably null
R4521:Dlgap2 UTSW 8 14,727,871 (GRCm38) missense probably damaging 1.00
R4585:Dlgap2 UTSW 8 14,727,999 (GRCm38) critical splice donor site probably null
R4760:Dlgap2 UTSW 8 14,773,380 (GRCm38) missense probably damaging 1.00
R5077:Dlgap2 UTSW 8 14,822,691 (GRCm38) missense probably benign 0.35
R5373:Dlgap2 UTSW 8 14,823,614 (GRCm38) missense probably benign 0.19
R5374:Dlgap2 UTSW 8 14,823,614 (GRCm38) missense probably benign 0.19
R5552:Dlgap2 UTSW 8 14,831,342 (GRCm38) nonsense probably null
R5964:Dlgap2 UTSW 8 14,727,128 (GRCm38) nonsense probably null
R6125:Dlgap2 UTSW 8 14,727,193 (GRCm38) missense possibly damaging 0.78
R6147:Dlgap2 UTSW 8 14,727,294 (GRCm38) missense probably benign 0.05
R6163:Dlgap2 UTSW 8 14,846,641 (GRCm38) missense probably damaging 1.00
R6269:Dlgap2 UTSW 8 14,822,369 (GRCm38) missense probably benign 0.01
R6629:Dlgap2 UTSW 8 14,831,465 (GRCm38) missense probably benign 0.00
R6765:Dlgap2 UTSW 8 14,743,284 (GRCm38) missense probably benign 0.00
R6809:Dlgap2 UTSW 8 14,179,619 (GRCm38) intron probably benign
R6913:Dlgap2 UTSW 8 14,778,374 (GRCm38) missense probably benign 0.10
R7219:Dlgap2 UTSW 8 14,743,296 (GRCm38) missense probably benign 0.00
R7485:Dlgap2 UTSW 8 14,829,952 (GRCm38) missense probably damaging 0.97
R7560:Dlgap2 UTSW 8 14,822,697 (GRCm38) critical splice donor site probably null
R7826:Dlgap2 UTSW 8 14,743,410 (GRCm38) missense probably benign 0.38
R7976:Dlgap2 UTSW 8 14,743,410 (GRCm38) missense probably benign 0.38
R8101:Dlgap2 UTSW 8 14,831,600 (GRCm38) missense probably benign 0.04
R8301:Dlgap2 UTSW 8 14,823,577 (GRCm38) missense probably benign 0.27
R8333:Dlgap2 UTSW 8 14,778,295 (GRCm38) missense probably benign 0.03
R8367:Dlgap2 UTSW 8 14,843,544 (GRCm38) missense probably benign 0.00
R8492:Dlgap2 UTSW 8 14,778,271 (GRCm38) missense possibly damaging 0.49
R8685:Dlgap2 UTSW 8 14,831,628 (GRCm38) missense possibly damaging 0.71
R8690:Dlgap2 UTSW 8 14,743,430 (GRCm38) missense probably benign 0.00
R8887:Dlgap2 UTSW 8 14,179,682 (GRCm38) critical splice donor site probably null
R9328:Dlgap2 UTSW 8 14,727,441 (GRCm38) missense probably damaging 1.00
R9338:Dlgap2 UTSW 8 14,179,683 (GRCm38) critical splice donor site probably null
R9465:Dlgap2 UTSW 8 14,778,226 (GRCm38) missense probably damaging 1.00
R9680:Dlgap2 UTSW 8 14,846,653 (GRCm38) missense probably damaging 0.98
X0060:Dlgap2 UTSW 8 14,839,787 (GRCm38) missense probably damaging 1.00
Z1088:Dlgap2 UTSW 8 14,822,472 (GRCm38) missense probably benign 0.10
Z1177:Dlgap2 UTSW 8 14,727,659 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACCTTCTCTGACTTGTGATGC -3'
(R):5'- AATTGGAGCATCCGTCCACTG -3'

Sequencing Primer
(F):5'- CTTTTCAGGAAGAAAGGAAGATCCCC -3'
(R):5'- TGTCCACAGTGCAGAGAAC -3'
Posted On 2015-09-24