Incidental Mutation 'R6809:Dlgap2'
| ID |
533709 |
| 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 |
044922-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6809 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
14145865-14897680 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to T
at 14229619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| 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 benign
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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (51/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
T |
A |
1: 192,857,089 (GRCm39) |
V147E |
possibly damaging |
Het |
| Abtb3 |
A |
G |
10: 85,467,240 (GRCm39) |
T732A |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,621,072 (GRCm39) |
M3893K |
probably benign |
Het |
| Aox3 |
T |
C |
1: 58,157,840 (GRCm39) |
S66P |
probably damaging |
Het |
| Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
| Bloc1s5 |
A |
G |
13: 38,787,961 (GRCm39) |
V141A |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 36,928,431 (GRCm39) |
N61S |
probably damaging |
Het |
| Col28a1 |
T |
C |
6: 7,999,468 (GRCm39) |
Y1083C |
probably damaging |
Het |
| Crb1 |
A |
G |
1: 139,170,864 (GRCm39) |
V842A |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,899,103 (GRCm39) |
S858G |
probably benign |
Het |
| Dpysl4 |
A |
G |
7: 138,673,576 (GRCm39) |
D199G |
probably benign |
Het |
| Eml6 |
C |
T |
11: 29,753,161 (GRCm39) |
V917I |
probably benign |
Het |
| Fut9 |
T |
A |
4: 25,620,647 (GRCm39) |
T56S |
probably benign |
Het |
| Gtdc1 |
G |
C |
2: 44,465,563 (GRCm39) |
S214* |
probably null |
Het |
| Gtdc1 |
A |
G |
2: 44,715,396 (GRCm39) |
F49S |
probably damaging |
Het |
| Hoxd9 |
A |
G |
2: 74,529,590 (GRCm39) |
Y282C |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,803 (GRCm39) |
E318G |
probably benign |
Het |
| Ikzf2 |
T |
C |
1: 69,609,661 (GRCm39) |
T195A |
probably damaging |
Het |
| Krt36 |
A |
T |
11: 99,996,335 (GRCm39) |
S30T |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,390,925 (GRCm39) |
F2991L |
probably benign |
Het |
| Lrrc34 |
T |
A |
3: 30,688,749 (GRCm39) |
Q184L |
possibly damaging |
Het |
| Mapk1 |
A |
T |
16: 16,853,326 (GRCm39) |
M49L |
probably benign |
Het |
| Mroh2a |
G |
T |
1: 88,162,938 (GRCm39) |
Q360H |
probably benign |
Het |
| Mrpl48 |
A |
G |
7: 100,195,574 (GRCm39) |
|
probably benign |
Het |
| Ncln |
A |
G |
10: 81,323,512 (GRCm39) |
|
probably null |
Het |
| Nol4 |
T |
A |
18: 23,053,882 (GRCm39) |
Q96L |
probably damaging |
Het |
| Or2y1e |
G |
T |
11: 49,218,687 (GRCm39) |
V150L |
probably benign |
Het |
| Or5g25 |
G |
A |
2: 85,478,317 (GRCm39) |
A116V |
probably damaging |
Het |
| Padi2 |
A |
G |
4: 140,674,077 (GRCm39) |
|
probably null |
Het |
| Pak5 |
T |
G |
2: 135,939,501 (GRCm39) |
I545L |
possibly damaging |
Het |
| Paqr5 |
T |
A |
9: 61,876,064 (GRCm39) |
R157W |
probably null |
Het |
| Pard3b |
G |
A |
1: 62,200,340 (GRCm39) |
R293H |
probably damaging |
Het |
| Phf11d |
C |
A |
14: 59,593,844 (GRCm39) |
C110F |
probably damaging |
Het |
| Pkn2 |
G |
A |
3: 142,504,765 (GRCm39) |
P804S |
probably damaging |
Het |
| Pnpla6 |
G |
A |
8: 3,584,611 (GRCm39) |
C743Y |
possibly damaging |
Het |
| Pramel14 |
A |
G |
4: 143,719,651 (GRCm39) |
V238A |
probably benign |
Het |
| Pramel58 |
C |
A |
5: 94,831,277 (GRCm39) |
Q95K |
probably benign |
Het |
| Psip1 |
A |
G |
4: 83,386,879 (GRCm39) |
M164T |
probably benign |
Het |
| Rgs22 |
C |
G |
15: 36,048,910 (GRCm39) |
S914T |
probably damaging |
Het |
| Rufy4 |
G |
A |
1: 74,172,206 (GRCm39) |
V310I |
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,741,816 (GRCm39) |
L2122F |
probably damaging |
Het |
| Sgcb |
T |
G |
5: 73,798,036 (GRCm39) |
N142T |
probably benign |
Het |
| Slc27a6 |
A |
G |
18: 58,738,126 (GRCm39) |
E394G |
probably benign |
Het |
| Slc29a2 |
T |
C |
19: 5,079,271 (GRCm39) |
V298A |
probably damaging |
Het |
| Slf2 |
C |
A |
19: 44,931,907 (GRCm39) |
T654N |
probably damaging |
Het |
| Spata4 |
A |
C |
8: 55,055,368 (GRCm39) |
K123Q |
possibly damaging |
Het |
| Taar7b |
T |
C |
10: 23,876,756 (GRCm39) |
V307A |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,693,983 (GRCm39) |
E295G |
possibly damaging |
Het |
| Ubqln4 |
A |
T |
3: 88,462,679 (GRCm39) |
Q48L |
possibly damaging |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,647 (GRCm39) |
D148E |
probably damaging |
Het |
| Vmn2r85 |
T |
A |
10: 130,261,795 (GRCm39) |
N181Y |
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,071,813 (GRCm39) |
V1026I |
possibly 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 |
|
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 |
|
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'- CAATGGTGCATGCTGTGTGC -3'
(R):5'- CTTGACCGGCTGAATTTTAAGC -3'
Sequencing Primer
(F):5'- AGTGTGGCAAGTCCCTATTGC -3'
(R):5'- GACCGGCTGAATTTTAAGCTATCAC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation