Incidental Mutation 'R9338:Dlgap2'
| ID |
707305 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9338 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
14145865-14897680 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 14229683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043279]
[ENSMUST00000133298]
[ENSMUST00000150247]
[ENSMUST00000152652]
|
| AlphaFold |
Q8BJ42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043279
|
| SMART Domains |
Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000133298
|
| SMART Domains |
Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000150247
|
| SMART Domains |
Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| SMART Domains |
Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
| Domain | Start | End | E-Value | Type |
|---|
|
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Adam30 |
G |
A |
3: 98,070,129 (GRCm39) |
G654D |
probably damaging |
Het |
| Cct3 |
T |
C |
3: 88,225,706 (GRCm39) |
V343A |
probably benign |
Het |
| Col11a2 |
A |
G |
17: 34,266,204 (GRCm39) |
T358A |
unknown |
Het |
| Cox6a2 |
T |
C |
7: 127,804,914 (GRCm39) |
Y94C |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,386,703 (GRCm39) |
I1521F |
probably damaging |
Het |
| Dclk3 |
C |
A |
9: 111,268,373 (GRCm39) |
A14E |
unknown |
Het |
| Dop1b |
C |
A |
16: 93,600,448 (GRCm39) |
Q2042K |
probably damaging |
Het |
| Ech1 |
A |
G |
7: 28,525,427 (GRCm39) |
S61G |
probably null |
Het |
| Ext2 |
T |
A |
2: 93,526,603 (GRCm39) |
N678Y |
probably damaging |
Het |
| Fgfr2 |
G |
T |
7: 129,863,561 (GRCm39) |
C28* |
probably null |
Het |
| Gon4l |
C |
A |
3: 88,809,019 (GRCm39) |
D1754E |
probably benign |
Het |
| Hivep2 |
T |
A |
10: 14,004,693 (GRCm39) |
C430* |
probably null |
Het |
| Htr7 |
C |
T |
19: 35,941,780 (GRCm39) |
|
probably null |
Het |
| Idh3b |
A |
T |
2: 130,122,392 (GRCm39) |
M331K |
probably damaging |
Het |
| Ighv2-7 |
A |
T |
12: 113,771,118 (GRCm39) |
F56I |
probably benign |
Het |
| Inpp5k |
C |
T |
11: 75,536,411 (GRCm39) |
H330Y |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,744,058 (GRCm39) |
Y1385H |
probably damaging |
Het |
| Mad1l1 |
A |
G |
5: 140,074,561 (GRCm39) |
L543P |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,666,536 (GRCm39) |
H158L |
probably benign |
Het |
| Mpp2 |
T |
A |
11: 101,951,249 (GRCm39) |
T511S |
probably benign |
Het |
| Msantd5f6 |
T |
C |
4: 73,320,245 (GRCm39) |
E178G |
possibly damaging |
Het |
| Msh4 |
T |
C |
3: 153,573,444 (GRCm39) |
I737V |
possibly damaging |
Het |
| Myo15b |
T |
C |
11: 115,762,238 (GRCm39) |
L1186P |
|
Het |
| Nckap1l |
A |
G |
15: 103,379,991 (GRCm39) |
T346A |
probably benign |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Npy5r |
T |
C |
8: 67,134,658 (GRCm39) |
N45S |
probably benign |
Het |
| Or6c202 |
T |
C |
10: 128,996,610 (GRCm39) |
N81S |
probably benign |
Het |
| Pde6a |
G |
A |
18: 61,354,109 (GRCm39) |
A145T |
probably damaging |
Het |
| Pfkp |
A |
C |
13: 6,634,724 (GRCm39) |
S678A |
probably damaging |
Het |
| Phxr2 |
A |
G |
10: 98,962,043 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
C |
A |
16: 17,135,227 (GRCm39) |
L942F |
|
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pla2g4e |
T |
A |
2: 120,019,914 (GRCm39) |
T179S |
probably benign |
Het |
| Popdc2 |
G |
A |
16: 38,194,509 (GRCm39) |
C310Y |
probably benign |
Het |
| Ppip5k1 |
C |
T |
2: 121,153,827 (GRCm39) |
R113Q |
|
Het |
| Prmt7 |
C |
T |
8: 106,961,665 (GRCm39) |
R193C |
unknown |
Het |
| Prph |
G |
C |
15: 98,955,359 (GRCm39) |
R442P |
probably damaging |
Het |
| Prrc2b |
A |
G |
2: 32,098,779 (GRCm39) |
Y697C |
probably damaging |
Het |
| Ptprm |
T |
A |
17: 67,069,143 (GRCm39) |
R962S |
probably damaging |
Het |
| Raph1 |
A |
G |
1: 60,529,300 (GRCm39) |
S654P |
unknown |
Het |
| Reln |
A |
G |
5: 22,202,937 (GRCm39) |
F1288L |
probably damaging |
Het |
| Rhot1 |
T |
A |
11: 80,145,568 (GRCm39) |
I553N |
probably benign |
Het |
| Rnf168 |
T |
C |
16: 32,110,801 (GRCm39) |
|
probably null |
Het |
| Slamf6 |
T |
A |
1: 171,747,157 (GRCm39) |
|
probably benign |
Het |
| Srgap1 |
CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC |
CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC |
10: 121,689,458 (GRCm39) |
|
probably benign |
Het |
| Taf4b |
C |
T |
18: 14,954,555 (GRCm39) |
P544S |
probably benign |
Het |
| Tbc1d24 |
A |
G |
17: 24,427,377 (GRCm39) |
V195A |
probably benign |
Het |
| Tomm70a |
A |
G |
16: 56,942,399 (GRCm39) |
M59V |
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,727,019 (GRCm39) |
S1184P |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,727,925 (GRCm39) |
S549G |
probably benign |
Het |
| Unc5d |
T |
A |
8: 29,709,471 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,308,489 (GRCm39) |
|
probably null |
Het |
| Usp45 |
T |
C |
4: 21,784,755 (GRCm39) |
V147A |
probably damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,460,994 (GRCm39) |
N773K |
probably damaging |
Het |
| Vps13c |
A |
T |
9: 67,858,977 (GRCm39) |
N2809I |
probably damaging |
Het |
| Yeats2 |
T |
A |
16: 20,032,078 (GRCm39) |
S984R |
possibly damaging |
Het |
| Yeats2 |
T |
A |
16: 20,041,533 (GRCm39) |
L1141Q |
probably damaging |
Het |
| Zfp58 |
T |
A |
13: 67,639,394 (GRCm39) |
T366S |
probably benign |
Het |
|
| Other mutations in Dlgap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
|
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'- TGGCAAGTCCCTATTGCTG -3'
(R):5'- TGACCACCTTGGCTCATCAG -3'
Sequencing Primer
(F):5'- TCAGTCTCCCGATTGCTGGG -3'
(R):5'- AGCTCCTCTCCAGTTGCCTAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation