Incidental Mutation 'R1440:Dlgap2'
ID 160930
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 039495-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1440 (G1)
Quality Score 187
Status Not validated
Chromosome 8
Chromosomal Location 14145865-14897680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14777060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 102 (S102P)
Ref Sequence ENSEMBL: ENSMUSP00000123078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043279] [ENSMUST00000133298] [ENSMUST00000150247] [ENSMUST00000152652]
AlphaFold Q8BJ42
Predicted Effect probably benign
Transcript: ENSMUST00000043279
AA Change: S101P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: S101P

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 probably benign
Transcript: ENSMUST00000133298
AA Change: S101P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: S101P

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 benign
Transcript: ENSMUST00000150247
AA Change: S101P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: S101P

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 benign
Transcript: ENSMUST00000152652
AA Change: S102P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: S102P

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: 98.8%
  • 3x: 97.7%
  • 10x: 94.0%
  • 20x: 84.7%
Validation Efficiency 95% (94/99)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik T G 12: 72,928,195 (GRCm39) N512T possibly damaging Het
Aadacl2 A T 3: 59,932,313 (GRCm39) H276L probably damaging Het
Adam12 G A 7: 133,533,543 (GRCm39) T445M probably benign Het
Ash2l A T 8: 26,317,406 (GRCm39) F290L probably benign Het
Asxl3 C T 18: 22,658,281 (GRCm39) P2097L probably benign Het
Atmin A G 8: 117,684,115 (GRCm39) I592V probably damaging Het
Atxn2 T C 5: 121,941,145 (GRCm39) probably null Het
BC004004 T C 17: 29,515,665 (GRCm39) probably null Het
Cacna1e T C 1: 154,437,552 (GRCm39) N328S possibly damaging Het
Cacna2d1 A T 5: 16,560,493 (GRCm39) K765I probably damaging Het
Cc2d1a A G 8: 84,860,604 (GRCm39) probably null Het
Ccdc28b A G 4: 129,514,408 (GRCm39) V198A probably benign Het
Ces1b G T 8: 93,794,736 (GRCm39) R288S probably damaging Het
Cfap100 T G 6: 90,389,166 (GRCm39) T198P probably benign Het
Clint1 T C 11: 45,781,610 (GRCm39) S227P probably damaging Het
Cntn5 C A 9: 10,145,344 (GRCm39) C122F probably damaging Het
Col3a1 A G 1: 45,382,472 (GRCm39) probably null Het
Cyp4a10 A C 4: 115,386,646 (GRCm39) D431A probably damaging Het
Cyp4f16 CTATG CTATGTATG 17: 32,769,708 (GRCm39) probably null Het
Dlc1 A T 8: 37,060,617 (GRCm39) probably benign Het
Dnah7b G A 1: 46,117,753 (GRCm39) probably benign Het
Dock10 A C 1: 80,526,853 (GRCm39) S1124A probably benign Het
Dscam C T 16: 96,621,151 (GRCm39) R519H probably damaging Het
Efcab3 A T 11: 104,999,581 (GRCm39) probably benign Het
Evi2a G T 11: 79,418,096 (GRCm39) N171K probably damaging Het
Fbxl15 T C 19: 46,318,684 (GRCm39) L286P probably damaging Het
Fpr1 T A 17: 18,097,525 (GRCm39) I155F probably benign Het
Gcat C T 15: 78,918,194 (GRCm39) A84V probably null Het
Gls A G 1: 52,230,293 (GRCm39) F473L possibly damaging Het
Gnat1 T C 9: 107,554,164 (GRCm39) D169G probably damaging Het
Grm3 A C 5: 9,639,958 (GRCm39) M29R probably benign Het
Herc1 A T 9: 66,375,085 (GRCm39) D3303V probably damaging Het
Ibsp G A 5: 104,458,405 (GRCm39) G314D unknown Het
Irag2 C T 6: 145,120,237 (GRCm39) T484M possibly damaging Het
Lgr6 C A 1: 134,915,210 (GRCm39) A513S probably damaging Het
Lrriq4 T A 3: 30,704,910 (GRCm39) C313S probably damaging Het
Marchf10 G T 11: 105,281,409 (GRCm39) T292K probably damaging Het
Mcoln2 C A 3: 145,896,137 (GRCm39) Y6* probably null Het
Mup4 A G 4: 59,958,076 (GRCm39) I164T probably damaging Het
Myo1b T C 1: 51,817,717 (GRCm39) probably benign Het
Ncam1 A G 9: 49,456,100 (GRCm39) I506T probably damaging Het
Notch1 A T 2: 26,370,976 (GRCm39) probably benign Het
Nr4a3 A T 4: 48,051,777 (GRCm39) Q177L probably benign Het
Nsun4 A G 4: 115,910,147 (GRCm39) S138P possibly damaging Het
Or1a1 A G 11: 74,086,505 (GRCm39) M59V probably damaging Het
Or2b6 G T 13: 21,823,560 (GRCm39) N44K probably benign Het
Or2d36 A T 7: 106,747,405 (GRCm39) N294I probably damaging Het
Or4k5 T C 14: 50,385,815 (GRCm39) N172S probably damaging Het
Pagr1a A T 7: 126,615,469 (GRCm39) probably benign Het
Pcdhb2 A T 18: 37,429,343 (GRCm39) I82L probably benign Het
Pds5b A T 5: 150,677,882 (GRCm39) N500I probably damaging Het
Pik3r6 A T 11: 68,422,271 (GRCm39) E223D possibly damaging Het
Pkhd1l1 A T 15: 44,404,384 (GRCm39) probably benign Het
Prex1 T C 2: 166,422,383 (GRCm39) D1204G probably damaging Het
Prickle1 C T 15: 93,402,955 (GRCm39) E244K possibly damaging Het
Ptprd A T 4: 76,002,789 (GRCm39) V211E probably damaging Het
Rad51d G A 11: 82,781,179 (GRCm39) R23* probably null Het
Rapgef6 G A 11: 54,517,534 (GRCm39) G262R probably damaging Het
Reln A G 5: 22,333,600 (GRCm39) probably benign Het
Rev1 T C 1: 38,127,286 (GRCm39) T325A probably damaging Het
Rnd3 T A 2: 51,022,518 (GRCm39) I175L probably benign Het
Rp1 C A 1: 4,417,619 (GRCm39) L1164F probably damaging Het
S100a7a T C 3: 90,562,942 (GRCm39) V43A probably benign Het
Scaper A C 9: 55,510,202 (GRCm39) Y1104* probably null Het
Scn2a T A 2: 65,594,938 (GRCm39) V1929D probably benign Het
Scn3a T C 2: 65,359,785 (GRCm39) N141S possibly damaging Het
Slc12a7 T G 13: 73,949,127 (GRCm39) L718R probably damaging Het
Slc15a2 T C 16: 36,605,005 (GRCm39) probably benign Het
Slc35b3 G A 13: 39,138,110 (GRCm39) Q100* probably null Het
Slc9a5 T A 8: 106,081,785 (GRCm39) V170E possibly damaging Het
Snx5 T G 2: 144,096,731 (GRCm39) K278T possibly damaging Het
Sorbs2 T C 8: 46,243,000 (GRCm39) probably benign Het
Stab1 C T 14: 30,873,647 (GRCm39) W1008* probably null Het
Stab2 C T 10: 86,697,231 (GRCm39) probably null Het
Tacc3 A G 5: 33,825,321 (GRCm39) E377G probably benign Het
Tango6 T C 8: 107,415,671 (GRCm39) L164P probably damaging Het
Tbc1d12 T A 19: 38,902,796 (GRCm39) S570T possibly damaging Het
Thbs1 T C 2: 117,944,836 (GRCm39) F217L probably damaging Het
Tmbim6 T A 15: 99,300,004 (GRCm39) V40E probably damaging Het
Tmigd1 A T 11: 76,800,986 (GRCm39) N158Y probably damaging Het
Top3b C T 16: 16,710,641 (GRCm39) R824* probably null Het
Tram1l1 A T 3: 124,115,580 (GRCm39) K247* probably null Het
Tsc2 T C 17: 24,833,366 (GRCm39) Y686C probably damaging Het
Tsga10 T C 1: 37,858,680 (GRCm39) Q218R probably damaging Het
Uba6 G T 5: 86,288,282 (GRCm39) A439D probably damaging Het
Ubn1 C A 16: 4,895,158 (GRCm39) P735T probably damaging Het
Usp40 A G 1: 87,909,808 (GRCm39) S549P probably benign Het
Utp20 T C 10: 88,655,201 (GRCm39) T176A probably benign Het
Utp4 T G 8: 107,624,685 (GRCm39) probably benign Het
Xpo5 C T 17: 46,518,853 (GRCm39) probably benign Het
Zfp979 A T 4: 147,698,493 (GRCm39) I72K possibly damaging 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
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
R1870:Dlgap2 UTSW 8 14,823,347 (GRCm39) missense probably damaging 1.00
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'- GGCAACTGGGAAAATGAGTCCTGTG -3'
(R):5'- CTCAAACTGGTCTAAGAGGTTGGCG -3'

Sequencing Primer
(F):5'- GCTTCCAGGGTTTCACCAAG -3'
(R):5'- GGACATGGCGCAATCATC -3'
Posted On 2014-03-14