Incidental Mutation 'R1804:Dlgap2'
| ID |
203388 |
| 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 |
039834-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1804 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
14145865-14897680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 14777809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 351
(N351K)
|
| 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: N350K
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: N350K
| 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: N350K
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: N350K
| 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: N350K
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: N350K
| 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: N351K
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: N351K
| 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 |
0.1433 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.5%
- 20x: 89.8%
|
| Validation Efficiency |
96% (77/80) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
A |
G |
1: 183,765,400 (GRCm39) |
Y220H |
probably benign |
Het |
| 4930579C12Rik |
T |
C |
9: 89,034,113 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc8 |
T |
C |
7: 45,769,903 (GRCm39) |
S871G |
probably benign |
Het |
| Acly |
T |
C |
11: 100,406,731 (GRCm39) |
Y288C |
probably damaging |
Het |
| Adgrb1 |
T |
A |
15: 74,401,389 (GRCm39) |
D128E |
probably damaging |
Het |
| Alms1 |
C |
T |
6: 85,598,257 (GRCm39) |
Q1497* |
probably null |
Het |
| Bltp2 |
A |
G |
11: 78,164,295 (GRCm39) |
H1165R |
probably damaging |
Het |
| Cacna1c |
G |
A |
6: 118,664,007 (GRCm39) |
T688M |
probably damaging |
Het |
| Ccdc7a |
A |
T |
8: 129,715,247 (GRCm39) |
L279* |
probably null |
Het |
| Cep135 |
A |
G |
5: 76,784,779 (GRCm39) |
E958G |
probably benign |
Het |
| Clec4n |
G |
T |
6: 123,206,981 (GRCm39) |
V2L |
possibly damaging |
Het |
| Col28a1 |
C |
T |
6: 8,164,612 (GRCm39) |
|
probably null |
Het |
| Dcaf5 |
A |
G |
12: 80,386,603 (GRCm39) |
S508P |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,927,381 (GRCm39) |
Y1346N |
probably benign |
Het |
| Dqx1 |
T |
C |
6: 83,037,303 (GRCm39) |
V322A |
probably damaging |
Het |
| Ebf3 |
A |
C |
7: 136,802,250 (GRCm39) |
L412V |
possibly damaging |
Het |
| Epha5 |
T |
C |
5: 84,479,674 (GRCm39) |
N110S |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,785,564 (GRCm39) |
C334R |
probably benign |
Het |
| Glp1r |
T |
A |
17: 31,149,687 (GRCm39) |
|
probably null |
Het |
| Gm4952 |
G |
T |
19: 12,595,784 (GRCm39) |
R58L |
probably damaging |
Het |
| Gm7579 |
G |
A |
7: 141,765,675 (GRCm39) |
C27Y |
unknown |
Het |
| Golm1 |
T |
A |
13: 59,790,203 (GRCm39) |
|
probably null |
Het |
| Gucy2g |
T |
A |
19: 55,198,741 (GRCm39) |
I801F |
probably benign |
Het |
| H2-D1 |
T |
C |
17: 35,482,528 (GRCm39) |
Y83H |
probably damaging |
Het |
| Homez |
A |
T |
14: 55,094,598 (GRCm39) |
I19N |
probably damaging |
Het |
| Hoxa5 |
T |
C |
6: 52,179,628 (GRCm39) |
K249R |
probably damaging |
Het |
| Hsd17b4 |
A |
T |
18: 50,311,051 (GRCm39) |
N550Y |
probably damaging |
Het |
| Ipo4 |
A |
T |
14: 55,866,913 (GRCm39) |
N668K |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klb |
A |
G |
5: 65,537,196 (GRCm39) |
D842G |
probably damaging |
Het |
| Minar1 |
T |
A |
9: 89,485,152 (GRCm39) |
M82L |
possibly damaging |
Het |
| Mmp21 |
G |
T |
7: 133,280,611 (GRCm39) |
P120T |
probably benign |
Het |
| Mroh7 |
T |
A |
4: 106,551,589 (GRCm39) |
I918F |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,417,517 (GRCm39) |
T3488A |
possibly damaging |
Het |
| Npc1 |
C |
T |
18: 12,356,145 (GRCm39) |
C42Y |
probably damaging |
Het |
| Ogdh |
A |
G |
11: 6,288,565 (GRCm39) |
Y214C |
probably damaging |
Het |
| Or2q1 |
G |
A |
6: 42,795,155 (GRCm39) |
C250Y |
possibly damaging |
Het |
| Or4k15c |
A |
T |
14: 50,321,359 (GRCm39) |
W260R |
probably damaging |
Het |
| Or4k35 |
T |
C |
2: 111,100,275 (GRCm39) |
M146V |
probably benign |
Het |
| Or5al1 |
G |
T |
2: 85,990,417 (GRCm39) |
T99N |
probably benign |
Het |
| Or8d23 |
A |
G |
9: 38,841,946 (GRCm39) |
T160A |
possibly damaging |
Het |
| Phtf1 |
A |
G |
3: 103,894,883 (GRCm39) |
|
probably benign |
Het |
| Plb1 |
A |
G |
5: 32,511,041 (GRCm39) |
N1302S |
possibly damaging |
Het |
| Prex2 |
A |
G |
1: 11,202,566 (GRCm39) |
K492E |
probably damaging |
Het |
| Prkaa1 |
A |
G |
15: 5,208,259 (GRCm39) |
D509G |
probably benign |
Het |
| Rims2 |
C |
T |
15: 39,300,439 (GRCm39) |
Q57* |
probably null |
Het |
| Rnf40 |
T |
C |
7: 127,195,120 (GRCm39) |
V411A |
possibly damaging |
Het |
| Rraga |
A |
G |
4: 86,494,681 (GRCm39) |
I176V |
probably damaging |
Het |
| Rrm2 |
T |
C |
12: 24,758,611 (GRCm39) |
I51T |
probably benign |
Het |
| Serpina3a |
T |
A |
12: 104,084,675 (GRCm39) |
|
probably benign |
Het |
| Skint7 |
T |
C |
4: 111,839,209 (GRCm39) |
W168R |
probably damaging |
Het |
| Slc27a4 |
A |
G |
2: 29,701,279 (GRCm39) |
M357V |
probably benign |
Het |
| Slc4a3 |
A |
G |
1: 75,528,361 (GRCm39) |
H452R |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 85,011,991 (GRCm39) |
I127K |
possibly damaging |
Het |
| Snap91 |
T |
A |
9: 86,665,470 (GRCm39) |
M383L |
probably benign |
Het |
| Taf6l |
A |
T |
19: 8,750,998 (GRCm39) |
L52Q |
probably damaging |
Het |
| Tas1r3 |
G |
A |
4: 155,944,927 (GRCm39) |
R765C |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,732,488 (GRCm39) |
I266V |
probably benign |
Het |
| Tesk2 |
T |
C |
4: 116,657,818 (GRCm39) |
|
probably benign |
Het |
| Tmem131l |
T |
G |
3: 83,817,786 (GRCm39) |
Q1237P |
possibly damaging |
Het |
| Tmem67 |
A |
G |
4: 12,045,789 (GRCm39) |
|
probably null |
Het |
| Tnfaip8 |
T |
A |
18: 50,223,728 (GRCm39) |
C179S |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,365,926 (GRCm39) |
|
probably null |
Het |
| Vps13b |
A |
T |
15: 35,917,283 (GRCm39) |
E3709V |
probably damaging |
Het |
| Wdr7 |
A |
T |
18: 63,998,511 (GRCm39) |
S1153C |
probably damaging |
Het |
| Zc2hc1b |
A |
C |
10: 13,047,012 (GRCm39) |
|
probably benign |
Het |
| Zfp438 |
A |
G |
18: 5,213,689 (GRCm39) |
I423T |
probably damaging |
Het |
| Zfp592 |
C |
A |
7: 80,673,443 (GRCm39) |
P136T |
probably damaging |
Het |
| Zfp783 |
T |
A |
6: 47,922,819 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp804b |
A |
T |
5: 6,821,756 (GRCm39) |
S400T |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCAAGCACAAGTCTGGTATG -3'
(R):5'- ACAAGGACACAGTTACCTGAGC -3'
Sequencing Primer
(F):5'- CACAAGTCTGGTATGAGCAGCTG -3'
(R):5'- AGTTACCTGAGCCTTACCTGGAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation