Incidental Mutation 'IGL03303:Dlgap2'
| ID |
416295 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL03303
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
14145865-14897680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14777812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 352
(D352E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043279]
[ENSMUST00000133298]
[ENSMUST00000150247]
[ENSMUST00000152652]
|
| AlphaFold |
Q8BJ42 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043279
AA Change: D351E
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: D351E
| 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 |
possibly damaging
Transcript: ENSMUST00000133298
AA Change: D351E
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: D351E
| 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 |
noncoding transcript
Transcript: ENSMUST00000141214
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150247
AA Change: D351E
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: D351E
| 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 damaging
Transcript: ENSMUST00000152652
AA Change: D352E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: D352E
| 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 |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,644,122 (GRCm39) |
V940E |
probably damaging |
Het |
| Agap1 |
T |
A |
1: 89,592,874 (GRCm39) |
V307D |
probably damaging |
Het |
| Amd1 |
A |
G |
10: 40,166,121 (GRCm39) |
V286A |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 36,924,226 (GRCm39) |
E17G |
possibly damaging |
Het |
| Chrne |
T |
C |
11: 70,505,926 (GRCm39) |
K453R |
possibly damaging |
Het |
| Ckm |
T |
A |
7: 19,148,263 (GRCm39) |
|
probably benign |
Het |
| Ckmt1 |
A |
G |
2: 121,190,486 (GRCm39) |
T138A |
probably benign |
Het |
| Cldn4 |
A |
G |
5: 134,975,103 (GRCm39) |
V166A |
possibly damaging |
Het |
| Dclre1a |
T |
C |
19: 56,535,198 (GRCm39) |
T129A |
possibly damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,838,006 (GRCm39) |
I236T |
probably benign |
Het |
| Enam |
G |
T |
5: 88,652,450 (GRCm39) |
V1320L |
probably benign |
Het |
| Ezh1 |
A |
C |
11: 101,086,497 (GRCm39) |
|
probably null |
Het |
| F13b |
A |
T |
1: 139,440,774 (GRCm39) |
D410V |
possibly damaging |
Het |
| Fcrl6 |
A |
T |
1: 172,425,255 (GRCm39) |
Y259N |
probably damaging |
Het |
| Fpr-rs7 |
A |
T |
17: 20,334,001 (GRCm39) |
F163Y |
possibly damaging |
Het |
| Gpihbp1 |
C |
T |
15: 75,469,827 (GRCm39) |
Q181* |
probably null |
Het |
| Htr2b |
T |
C |
1: 86,027,061 (GRCm39) |
|
probably benign |
Het |
| Igkv1-35 |
A |
G |
6: 69,988,635 (GRCm39) |
I8T |
probably benign |
Het |
| Kcnq2 |
T |
C |
2: 180,724,182 (GRCm39) |
T584A |
probably benign |
Het |
| Khdrbs3 |
A |
G |
15: 68,896,672 (GRCm39) |
T111A |
probably benign |
Het |
| Krtap29-1 |
A |
T |
11: 99,869,669 (GRCm39) |
C71S |
probably benign |
Het |
| Lrrc4c |
A |
T |
2: 97,459,937 (GRCm39) |
I188F |
probably damaging |
Het |
| Med1 |
G |
T |
11: 98,049,178 (GRCm39) |
N539K |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,733,933 (GRCm39) |
D260E |
probably damaging |
Het |
| Mnd1 |
A |
G |
3: 84,012,244 (GRCm39) |
I155T |
probably benign |
Het |
| Msrb3 |
T |
C |
10: 120,620,046 (GRCm39) |
D91G |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,485,194 (GRCm39) |
D1102E |
probably damaging |
Het |
| Nfx1 |
T |
A |
4: 41,004,323 (GRCm39) |
|
probably benign |
Het |
| Nrsn2 |
T |
C |
2: 152,216,131 (GRCm39) |
D24G |
possibly damaging |
Het |
| Or4c127 |
A |
T |
2: 89,832,810 (GRCm39) |
K20I |
possibly damaging |
Het |
| Osmr |
T |
A |
15: 6,872,289 (GRCm39) |
R268S |
probably benign |
Het |
| Pelo |
C |
A |
13: 115,225,197 (GRCm39) |
V343L |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,415,040 (GRCm39) |
N2024I |
probably damaging |
Het |
| Rps6ka2 |
C |
T |
17: 7,495,411 (GRCm39) |
Q33* |
probably null |
Het |
| Slfn2 |
G |
A |
11: 82,960,293 (GRCm39) |
V91I |
possibly damaging |
Het |
| Socs6 |
G |
T |
18: 88,887,868 (GRCm39) |
A349E |
probably damaging |
Het |
| Syt2 |
A |
G |
1: 134,669,649 (GRCm39) |
N97D |
probably benign |
Het |
| Tas2r123 |
T |
A |
6: 132,824,401 (GRCm39) |
H99Q |
probably damaging |
Het |
| Tmc3 |
A |
G |
7: 83,239,933 (GRCm39) |
|
probably benign |
Het |
| Ube2s |
A |
T |
7: 4,813,476 (GRCm39) |
V35D |
probably damaging |
Het |
| Usp32 |
A |
T |
11: 84,913,658 (GRCm39) |
V891D |
probably damaging |
Het |
| Vmn1r169 |
A |
T |
7: 23,277,434 (GRCm39) |
E275D |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,841,786 (GRCm39) |
H1936R |
probably benign |
Het |
| Wrap73 |
C |
A |
4: 154,231,000 (GRCm39) |
A92E |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,410 (GRCm39) |
T2856M |
probably damaging |
Het |
| Zmym1 |
A |
T |
4: 126,942,927 (GRCm39) |
I487N |
probably damaging |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation