Incidental Mutation 'IGL03183:Dlgap2'
| ID |
412349 |
| 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 # |
IGL03183
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
14145865-14897680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14777525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 257
(N257Y)
|
| 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: N256Y
PolyPhen 2
Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: N256Y
| 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: ENSMUST00000133298
AA Change: N256Y
PolyPhen 2
Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: N256Y
| 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 |
probably benign
Transcript: ENSMUST00000150247
AA Change: N256Y
PolyPhen 2
Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: N256Y
| 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 |
possibly damaging
Transcript: ENSMUST00000152652
AA Change: N257Y
PolyPhen 2
Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: N257Y
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh6a1 |
A |
G |
12: 84,483,214 (GRCm39) |
|
probably null |
Het |
| Ano2 |
A |
T |
6: 125,687,592 (GRCm39) |
K32N |
probably benign |
Het |
| Asic1 |
A |
G |
15: 99,569,898 (GRCm39) |
H73R |
probably benign |
Het |
| B3glct |
A |
G |
5: 149,677,607 (GRCm39) |
D412G |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,733,640 (GRCm39) |
I1891V |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,889,721 (GRCm39) |
E1278G |
probably damaging |
Het |
| Ccdc116 |
T |
C |
16: 16,960,718 (GRCm39) |
E33G |
probably benign |
Het |
| Celf4 |
T |
A |
18: 25,670,796 (GRCm39) |
Q129L |
probably benign |
Het |
| Celf4 |
G |
T |
18: 25,670,797 (GRCm39) |
Q129K |
probably benign |
Het |
| Cfap251 |
A |
G |
5: 123,392,682 (GRCm39) |
|
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,909,588 (GRCm39) |
S817P |
probably damaging |
Het |
| Corin |
A |
G |
5: 72,458,929 (GRCm39) |
V940A |
probably damaging |
Het |
| Dnah2 |
C |
A |
11: 69,349,314 (GRCm39) |
V2441L |
possibly damaging |
Het |
| Evpl |
C |
T |
11: 116,112,438 (GRCm39) |
E1751K |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,403,623 (GRCm39) |
E125K |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,881,640 (GRCm39) |
|
probably benign |
Het |
| Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
| G3bp2 |
A |
C |
5: 92,202,905 (GRCm39) |
M362R |
possibly damaging |
Het |
| Grk5 |
T |
C |
19: 61,057,774 (GRCm39) |
F158S |
probably damaging |
Het |
| Hmbox1 |
G |
T |
14: 65,125,048 (GRCm39) |
Q188K |
probably damaging |
Het |
| Ift172 |
A |
T |
5: 31,429,348 (GRCm39) |
D604E |
probably benign |
Het |
| Igkv6-32 |
T |
A |
6: 70,051,556 (GRCm39) |
T5S |
probably benign |
Het |
| Impa1 |
A |
G |
3: 10,388,054 (GRCm39) |
Y123H |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,879,550 (GRCm39) |
T612M |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,944,976 (GRCm39) |
|
probably null |
Het |
| Meis2 |
A |
G |
2: 115,890,002 (GRCm39) |
L160S |
probably damaging |
Het |
| Micu1 |
C |
T |
10: 59,563,870 (GRCm39) |
R31* |
probably null |
Het |
| Nlrp9a |
G |
T |
7: 26,256,882 (GRCm39) |
A167S |
probably damaging |
Het |
| Or10j27 |
A |
G |
1: 172,958,425 (GRCm39) |
Y120H |
probably damaging |
Het |
| Or4d10 |
A |
T |
19: 12,051,392 (GRCm39) |
N201K |
probably damaging |
Het |
| Plpp6 |
A |
G |
19: 28,942,071 (GRCm39) |
N224S |
possibly damaging |
Het |
| Sdk2 |
T |
A |
11: 113,741,810 (GRCm39) |
H803L |
probably benign |
Het |
| Shld2 |
T |
C |
14: 33,967,143 (GRCm39) |
T690A |
probably benign |
Het |
| Slc36a1 |
T |
A |
11: 55,119,017 (GRCm39) |
Y331N |
probably damaging |
Het |
| Spata31d1c |
A |
T |
13: 65,183,009 (GRCm39) |
I184F |
possibly damaging |
Het |
| Stat3 |
T |
C |
11: 100,793,582 (GRCm39) |
I338V |
possibly damaging |
Het |
| Stk10 |
T |
A |
11: 32,554,143 (GRCm39) |
V610E |
possibly damaging |
Het |
| Syna |
A |
G |
5: 134,587,144 (GRCm39) |
S602P |
probably benign |
Het |
| Tap2 |
T |
A |
17: 34,424,399 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,539,084 (GRCm39) |
|
probably benign |
Het |
| Tra2b |
C |
A |
16: 22,073,303 (GRCm39) |
|
probably benign |
Het |
| Ttc7b |
T |
C |
12: 100,339,968 (GRCm39) |
|
probably null |
Het |
| Vmn2r121 |
G |
A |
X: 123,042,023 (GRCm39) |
T378I |
probably benign |
Het |
| Wdr1 |
A |
T |
5: 38,690,825 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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