Incidental Mutation 'R1870:Dlgap2'
ID 210650
Institutional Source Beutler Lab
Gene Symbol Dlgap2
Ensembl Gene ENSMUSG00000047495
Gene Name DLG associated protein 2
Synonyms 6430596N04Rik, PSD-95/SAP90-binding protein 2, Sapap2, DAP2, SAP90/PSD-95-associated protein 2
MMRRC Submission 039892-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1870 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 14145865-14897680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14823347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 522 (V522E)
Ref Sequence ENSEMBL: ENSMUSP00000123104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043279] [ENSMUST00000133298] [ENSMUST00000150247] [ENSMUST00000152652]
AlphaFold Q8BJ42
Predicted Effect probably damaging
Transcript: ENSMUST00000043279
AA Change: V522E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: V522E

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: V522E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: V522E

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: ENSMUST00000141214
Predicted Effect probably damaging
Transcript: ENSMUST00000150247
AA Change: V522E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: V522E

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: V523E

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: V523E

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.1%
  • 20x: 92.1%
Validation Efficiency 97% (96/99)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,242,134 (GRCm39) E1332D probably benign Het
Abca5 C A 11: 110,220,043 (GRCm39) V8L probably benign Het
Abcc8 C T 7: 45,773,339 (GRCm39) E797K probably benign Het
Acd C A 8: 106,425,039 (GRCm39) probably null Het
Adam34l A T 8: 44,078,132 (GRCm39) Y697* probably null Het
Adamts12 T C 15: 11,311,240 (GRCm39) S1166P probably benign Het
Alox12b T C 11: 69,049,199 (GRCm39) Y83H possibly damaging Het
Antxr2 A T 5: 98,178,297 (GRCm39) S38T probably damaging Het
Aox1 A G 1: 58,115,262 (GRCm39) E749G probably damaging Het
Arpc1a T A 5: 145,043,901 (GRCm39) C344S possibly damaging Het
Bcan T C 3: 87,902,908 (GRCm39) Y290C probably damaging Het
Bod1l G A 5: 41,991,018 (GRCm39) S179F possibly damaging Het
Catsper3 A C 13: 55,953,561 (GRCm39) D224A probably damaging Het
Ccar2 A G 14: 70,377,946 (GRCm39) S680P probably damaging Het
Ccdc18 A G 5: 108,368,703 (GRCm39) H1275R possibly damaging Het
Ccdc40 T C 11: 119,150,730 (GRCm39) M1011T possibly damaging Het
Cfap46 T A 7: 139,263,386 (GRCm39) D17V probably damaging Het
Csn1s2a T C 5: 87,926,058 (GRCm39) F45L probably benign Het
Cwf19l2 T G 9: 3,458,802 (GRCm39) N750K possibly damaging Het
Cyb5r4 A G 9: 86,922,462 (GRCm39) D157G probably benign Het
D130040H23Rik T A 8: 69,755,354 (GRCm39) I253N probably benign Het
Dennd4a C T 9: 64,804,516 (GRCm39) A1285V probably benign Het
Dlat A G 9: 50,548,874 (GRCm39) S561P probably damaging Het
Dnah5 T A 15: 28,331,859 (GRCm39) Y2148* probably null Het
Dnase2a T C 8: 85,635,392 (GRCm39) probably benign Het
Elapor2 A G 5: 9,468,007 (GRCm39) E225G probably damaging Het
Fam83f T C 15: 80,574,113 (GRCm39) probably benign Het
Firrm G A 1: 163,792,363 (GRCm39) L545F probably damaging Het
Foxi1 A T 11: 34,157,937 (GRCm39) N29K possibly damaging Het
Galk2 T C 2: 125,817,183 (GRCm39) L324P probably benign Het
Gdpd4 G A 7: 97,622,162 (GRCm39) V214I probably benign Het
Gfra3 C T 18: 34,844,373 (GRCm39) A56T probably damaging Het
Glyctk A G 9: 106,032,547 (GRCm39) S489P probably damaging Het
Izumo4 A T 10: 80,539,569 (GRCm39) I135F probably damaging Het
Krt87 T A 15: 101,385,071 (GRCm39) T342S probably benign Het
L1td1 T A 4: 98,625,714 (GRCm39) D636E possibly damaging Het
Letm2 A G 8: 26,086,460 (GRCm39) probably benign Het
Lpin1 A G 12: 16,591,744 (GRCm39) F828L probably damaging Het
Lrrc37 T C 11: 103,511,431 (GRCm39) D179G unknown Het
Mdn1 T A 4: 32,763,339 (GRCm39) D5146E probably damaging Het
Megf10 T A 18: 57,324,257 (GRCm39) Y99* probably null Het
Men1 A G 19: 6,387,660 (GRCm39) D285G probably damaging Het
Mertk T G 2: 128,643,116 (GRCm39) D838E probably benign Het
Mta1 T C 12: 113,091,694 (GRCm39) S266P possibly damaging Het
Mta3 G A 17: 84,089,397 (GRCm39) V320M probably damaging Het
Nlrp9c G A 7: 26,084,245 (GRCm39) Q445* probably null Het
Or2m12 A T 16: 19,105,357 (GRCm39) N45K probably damaging Het
Or51e1 T C 7: 102,358,961 (GRCm39) I165T possibly damaging Het
Or8b38 A T 9: 37,972,646 (GRCm39) K10I probably benign Het
Or8d6 T G 9: 39,854,117 (GRCm39) I187R probably damaging Het
Pbrm1 T A 14: 30,828,132 (GRCm39) L1320I probably damaging Het
Pdzd2 G T 15: 12,457,972 (GRCm39) T297K probably damaging Het
Pfas T C 11: 68,882,795 (GRCm39) D782G probably damaging Het
Pik3c3 T C 18: 30,426,185 (GRCm39) probably null Het
Pira2 T C 7: 3,847,452 (GRCm39) N79S probably damaging Het
Pkdrej G T 15: 85,700,632 (GRCm39) T1768K probably damaging Het
Plcb3 T C 19: 6,940,353 (GRCm39) I439V probably benign Het
Pold4 T A 19: 4,282,593 (GRCm39) Y58* probably null Het
Ppef2 T G 5: 92,398,371 (GRCm39) Q49P probably damaging Het
Ralgapa1 T A 12: 55,723,817 (GRCm39) I2026F possibly damaging Het
Rest T A 5: 77,416,209 (GRCm39) V141E possibly damaging Het
Rnf139 T C 15: 58,771,202 (GRCm39) V409A probably benign Het
Rnpc3 T C 3: 113,404,704 (GRCm39) probably benign Het
S100a10 A T 3: 93,468,377 (GRCm39) E36V probably benign Het
S1pr3 A C 13: 51,573,952 (GRCm39) K378Q probably benign Het
Scaper T A 9: 55,593,222 (GRCm39) I472F probably damaging Het
Sgcg G A 14: 61,477,896 (GRCm39) probably benign Het
Shank1 A T 7: 43,991,539 (GRCm39) R69* probably null Het
Shoc1 G A 4: 59,054,142 (GRCm39) probably benign Het
Siglecf A G 7: 43,004,967 (GRCm39) N399S probably benign Het
Slc25a54 T A 3: 108,987,932 (GRCm39) Y24* probably null Het
Slc29a4 T C 5: 142,707,243 (GRCm39) *529R probably null Het
Slc41a2 G A 10: 83,137,029 (GRCm39) Q293* probably null Het
Slc4a7 T C 14: 14,737,509 (GRCm38) probably null Het
Slfn9 G T 11: 82,872,402 (GRCm39) T778N probably benign Het
Ssr2 T C 3: 88,483,949 (GRCm39) probably benign Het
Tecrl T A 5: 83,502,706 (GRCm39) T33S probably benign Het
Tnfrsf9 T A 4: 151,018,804 (GRCm39) C158* probably null Het
Tradd T C 8: 105,985,792 (GRCm39) E253G possibly damaging Het
Usp34 A G 11: 23,314,479 (GRCm39) H807R probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r27 T C 6: 124,201,170 (GRCm39) I262M probably benign Het
Vps13a A G 19: 16,737,316 (GRCm39) V91A probably damaging Het
Vwf C T 6: 125,619,902 (GRCm39) R1527C probably damaging Het
Wwc1 C T 11: 35,752,772 (GRCm39) G763D probably damaging Het
Zfp526 T G 7: 24,924,594 (GRCm39) D284E possibly damaging Het
Zfp646 T C 7: 127,483,021 (GRCm39) F1733L possibly damaging Het
Zfp90 A G 8: 107,145,755 (GRCm39) H29R probably benign Het
Zkscan4 A G 13: 21,668,104 (GRCm39) E185G probably benign Het
Other mutations in Dlgap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01476:Dlgap2 APN 8 14,828,301 (GRCm39) nonsense probably null
IGL01788:Dlgap2 APN 8 14,893,631 (GRCm39) missense probably benign 0.19
IGL02054:Dlgap2 APN 8 14,893,552 (GRCm39) missense probably damaging 0.98
IGL02969:Dlgap2 APN 8 14,881,579 (GRCm39) missense possibly damaging 0.95
IGL03183:Dlgap2 APN 8 14,777,525 (GRCm39) missense possibly damaging 0.62
IGL03303:Dlgap2 APN 8 14,777,812 (GRCm39) missense probably damaging 0.99
G1Funyon:Dlgap2 UTSW 8 14,873,577 (GRCm39) missense probably benign 0.27
PIT4403001:Dlgap2 UTSW 8 14,881,528 (GRCm39) missense probably damaging 1.00
R0026:Dlgap2 UTSW 8 14,777,363 (GRCm39) nonsense probably null
R0242:Dlgap2 UTSW 8 14,777,562 (GRCm39) missense probably benign 0.34
R0242:Dlgap2 UTSW 8 14,777,562 (GRCm39) missense probably benign 0.34
R0647:Dlgap2 UTSW 8 14,777,591 (GRCm39) missense possibly damaging 0.95
R1221:Dlgap2 UTSW 8 14,776,952 (GRCm39) missense probably benign 0.08
R1374:Dlgap2 UTSW 8 14,881,228 (GRCm39) splice site probably benign
R1440:Dlgap2 UTSW 8 14,777,060 (GRCm39) missense probably benign
R1544:Dlgap2 UTSW 8 14,879,861 (GRCm39) splice site probably null
R1550:Dlgap2 UTSW 8 14,872,499 (GRCm39) missense probably damaging 0.98
R1804:Dlgap2 UTSW 8 14,777,809 (GRCm39) missense possibly damaging 0.71
R1921:Dlgap2 UTSW 8 14,893,624 (GRCm39) missense probably benign 0.10
R2119:Dlgap2 UTSW 8 14,828,206 (GRCm39) missense possibly damaging 0.69
R2193:Dlgap2 UTSW 8 14,793,431 (GRCm39) missense possibly damaging 0.51
R4381:Dlgap2 UTSW 8 14,896,502 (GRCm39) missense probably benign
R4422:Dlgap2 UTSW 8 14,793,463 (GRCm39) critical splice donor site probably null
R4521:Dlgap2 UTSW 8 14,777,871 (GRCm39) missense probably damaging 1.00
R4581:Dlgap2 UTSW 8 14,896,679 (GRCm39) missense probably damaging 1.00
R4585:Dlgap2 UTSW 8 14,777,999 (GRCm39) critical splice donor site probably null
R4760:Dlgap2 UTSW 8 14,823,380 (GRCm39) missense probably damaging 1.00
R5077:Dlgap2 UTSW 8 14,872,691 (GRCm39) missense probably benign 0.35
R5373:Dlgap2 UTSW 8 14,873,614 (GRCm39) missense probably benign 0.19
R5374:Dlgap2 UTSW 8 14,873,614 (GRCm39) missense probably benign 0.19
R5552:Dlgap2 UTSW 8 14,881,342 (GRCm39) nonsense probably null
R5964:Dlgap2 UTSW 8 14,777,128 (GRCm39) nonsense probably null
R6125:Dlgap2 UTSW 8 14,777,193 (GRCm39) missense possibly damaging 0.78
R6147:Dlgap2 UTSW 8 14,777,294 (GRCm39) missense probably benign 0.05
R6163:Dlgap2 UTSW 8 14,896,641 (GRCm39) missense probably damaging 1.00
R6269:Dlgap2 UTSW 8 14,872,369 (GRCm39) missense probably benign 0.01
R6629:Dlgap2 UTSW 8 14,881,465 (GRCm39) missense probably benign 0.00
R6765:Dlgap2 UTSW 8 14,793,284 (GRCm39) missense probably benign 0.00
R6809:Dlgap2 UTSW 8 14,229,619 (GRCm39) intron probably benign
R6913:Dlgap2 UTSW 8 14,828,374 (GRCm39) missense probably benign 0.10
R7219:Dlgap2 UTSW 8 14,793,296 (GRCm39) missense probably benign 0.00
R7485:Dlgap2 UTSW 8 14,879,952 (GRCm39) missense probably damaging 0.97
R7560:Dlgap2 UTSW 8 14,872,697 (GRCm39) critical splice donor site probably null
R7826:Dlgap2 UTSW 8 14,793,410 (GRCm39) missense probably benign 0.38
R7976:Dlgap2 UTSW 8 14,793,410 (GRCm39) missense probably benign 0.38
R8101:Dlgap2 UTSW 8 14,881,600 (GRCm39) missense probably benign 0.04
R8301:Dlgap2 UTSW 8 14,873,577 (GRCm39) missense probably benign 0.27
R8333:Dlgap2 UTSW 8 14,828,295 (GRCm39) missense probably benign 0.03
R8367:Dlgap2 UTSW 8 14,893,544 (GRCm39) missense probably benign 0.00
R8492:Dlgap2 UTSW 8 14,828,271 (GRCm39) missense possibly damaging 0.49
R8685:Dlgap2 UTSW 8 14,881,628 (GRCm39) missense possibly damaging 0.71
R8690:Dlgap2 UTSW 8 14,793,430 (GRCm39) missense probably benign 0.00
R8887:Dlgap2 UTSW 8 14,229,682 (GRCm39) critical splice donor site probably null
R9328:Dlgap2 UTSW 8 14,777,441 (GRCm39) missense probably damaging 1.00
R9338:Dlgap2 UTSW 8 14,229,683 (GRCm39) critical splice donor site probably null
R9465:Dlgap2 UTSW 8 14,828,226 (GRCm39) missense probably damaging 1.00
R9680:Dlgap2 UTSW 8 14,896,653 (GRCm39) missense probably damaging 0.98
X0060:Dlgap2 UTSW 8 14,889,787 (GRCm39) missense probably damaging 1.00
Z1088:Dlgap2 UTSW 8 14,872,472 (GRCm39) missense probably benign 0.10
Z1177:Dlgap2 UTSW 8 14,777,659 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTATCTACTGGCAGCCATCTCC -3'
(R):5'- GCCTAAGCCGATGAGGTTTTG -3'

Sequencing Primer
(F):5'- GGCAGCCATCTCCTCCTAC -3'
(R):5'- CGCTAAATCAAGACAGACTGTTGTG -3'
Posted On 2014-06-30