Incidental Mutation 'R6125:Dlgap2'
ID 487341
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 044272-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6125 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 14145865-14897680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14777193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 146 (H146L)
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: H145L

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: H145L

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: H145L

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: H145L

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: H145L

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: H145L

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 possibly damaging
Transcript: ENSMUST00000152652
AA Change: H146L

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: H146L

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 0.1041 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.5%
Validation Efficiency 97% (65/67)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef11 T C 3: 87,636,909 (GRCm39) F1023S probably damaging Het
Atp1a1 G A 3: 101,498,023 (GRCm39) R255C probably damaging Het
Bbs12 A G 3: 37,374,700 (GRCm39) I383V probably benign Het
Cacna1h G A 17: 25,604,668 (GRCm39) P1215L probably benign Het
Calm5 A T 13: 3,904,491 (GRCm39) K62* probably null Het
Chd8 T A 14: 52,444,491 (GRCm39) H398L probably benign Het
Cspg4b A G 13: 113,454,217 (GRCm39) T88A probably benign Het
Dop1a G A 9: 86,403,186 (GRCm39) R1462H probably damaging Het
Dusp29 C A 14: 21,736,758 (GRCm39) V115L probably benign Het
Dync2h1 T C 9: 7,168,706 (GRCm39) N369S probably damaging Het
Fer1l4 A C 2: 155,888,907 (GRCm39) V422G probably damaging Het
Fstl4 T C 11: 53,077,130 (GRCm39) M629T probably benign Het
Galnt18 A G 7: 111,084,400 (GRCm39) Y507H probably damaging Het
Gar1 C A 3: 129,624,399 (GRCm39) probably benign Het
Gm19402 T C 10: 77,526,507 (GRCm39) T29A probably damaging Het
Gm826 A G 2: 160,169,034 (GRCm39) F92L unknown Het
H1f0 T A 15: 78,913,070 (GRCm39) I50N probably damaging Het
H2-DMb1 A G 17: 34,376,439 (GRCm39) Y186C probably damaging Het
Hgf A G 5: 16,803,159 (GRCm39) N357S probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hsf2 T C 10: 57,388,101 (GRCm39) V415A probably benign Het
Ins2 C A 7: 142,233,430 (GRCm39) probably null Het
Kel A T 6: 41,667,720 (GRCm39) F89L probably damaging Het
Lratd2 T C 15: 60,695,146 (GRCm39) N200S probably damaging Het
Lrrc37a T C 11: 103,392,386 (GRCm39) D1013G probably benign Het
Ltbp4 C A 7: 27,027,180 (GRCm39) G397C probably damaging Het
Madd A G 2: 90,982,797 (GRCm39) probably null Het
Map4k4 A G 1: 40,043,125 (GRCm39) D660G possibly damaging Het
Mdm4 G A 1: 132,922,248 (GRCm39) T298I possibly damaging Het
Mlip G A 9: 77,137,764 (GRCm39) S381L probably damaging Het
Mpdz A T 4: 81,215,764 (GRCm39) C1487S probably benign Het
Mtus1 A G 8: 41,537,576 (GRCm39) S47P probably damaging Het
Nek1 T C 8: 61,481,735 (GRCm39) S217P probably damaging Het
Or10ag59 T C 2: 87,405,590 (GRCm39) I54T probably benign Het
Or5b123 C T 19: 13,597,249 (GRCm39) A241V probably benign Het
Pcdhb10 T C 18: 37,546,679 (GRCm39) V585A possibly damaging Het
Perm1 A G 4: 156,302,176 (GRCm39) E240G probably benign Het
Pkdrej T C 15: 85,700,585 (GRCm39) T1784A probably damaging Het
Pnpla8 C T 12: 44,354,772 (GRCm39) T644M possibly damaging Het
Rgs2 T C 1: 143,879,763 (GRCm39) K32E probably damaging Het
Scyl3 A T 1: 163,778,145 (GRCm39) M428L probably benign Het
Slc30a8 A G 15: 52,198,530 (GRCm39) D325G probably benign Het
Slc5a9 G T 4: 111,741,002 (GRCm39) T548K probably damaging Het
Slc9b2 G A 3: 135,036,457 (GRCm39) probably null Het
Slco3a1 C T 7: 73,968,254 (GRCm39) D489N probably benign Het
Slit3 T C 11: 35,461,560 (GRCm39) probably null Het
Stk39 C A 2: 68,222,468 (GRCm39) G199C probably damaging Het
Tbx1 A G 16: 18,402,216 (GRCm39) F263L probably damaging Het
Tcf21 G T 10: 22,695,665 (GRCm39) N46K probably benign Het
Tdrd9 T A 12: 112,034,632 (GRCm39) M1357K possibly damaging Het
Tll1 A G 8: 64,504,521 (GRCm39) L625P probably damaging Het
Tmem131 G A 1: 36,847,387 (GRCm39) S1237L possibly damaging Het
Trdv5 T C 14: 54,386,298 (GRCm39) K56E possibly damaging Het
Triml2 G A 8: 43,640,659 (GRCm39) V172I probably benign Het
Trmt44 C A 5: 35,722,842 (GRCm39) D409Y probably damaging Het
Ube2o C T 11: 116,432,204 (GRCm39) A921T probably damaging Het
Ube2o T C 11: 116,435,576 (GRCm39) D404G possibly damaging Het
Ube4b T C 4: 149,483,203 (GRCm39) T22A probably benign Het
Ugp2 A T 11: 21,279,815 (GRCm39) F327L probably damaging Het
Virma T C 4: 11,521,172 (GRCm39) S910P probably damaging Het
Vmn2r9 A G 5: 108,990,836 (GRCm39) Y842H probably benign Het
Zfhx4 A G 3: 5,463,871 (GRCm39) D1368G possibly damaging Het
Zfp980 T A 4: 145,429,208 (GRCm39) *646R probably null Het
Zranb3 T A 1: 127,887,482 (GRCm39) N982Y 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
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
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'- AACGCAGCACTTCAATGAAGAG -3'
(R):5'- GGGAGCTGTTTCTCAAACTGG -3'

Sequencing Primer
(F):5'- CAGCACTTCAATGAAGAGAGGTAC -3'
(R):5'- CTCAAACTGGTCTAAGAGGTTGGC -3'
Posted On 2017-10-10