Incidental Mutation 'R5964:Dlgap2'
| ID |
471951 |
| 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 |
044149-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5964 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
14145865-14897680 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 14777128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 124
(Y124*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043279]
[ENSMUST00000133298]
[ENSMUST00000150247]
[ENSMUST00000152652]
|
| AlphaFold |
Q8BJ42 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043279
AA Change: Y123*
|
| SMART Domains |
Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: Y123*
| 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
AA Change: Y123*
|
| SMART Domains |
Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: Y123*
| 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 null
Transcript: ENSMUST00000150247
AA Change: Y123*
|
| SMART Domains |
Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: Y123*
| 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 null
Transcript: ENSMUST00000152652
AA Change: Y124*
|
| SMART Domains |
Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: Y124*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.2%
|
| Validation Efficiency |
96% (87/91) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
G |
A |
3: 89,250,874 (GRCm39) |
Q581* |
probably null |
Het |
| Agl |
A |
G |
3: 116,587,423 (GRCm39) |
V44A |
probably damaging |
Het |
| Alpk3 |
T |
A |
7: 80,742,008 (GRCm39) |
D608E |
possibly damaging |
Het |
| Aspm |
C |
A |
1: 139,382,965 (GRCm39) |
|
probably benign |
Het |
| Bbs2 |
T |
C |
8: 94,794,995 (GRCm39) |
N692S |
probably benign |
Het |
| Bend4 |
A |
G |
5: 67,575,161 (GRCm39) |
I240T |
probably benign |
Het |
| Casp8 |
G |
T |
1: 58,872,895 (GRCm39) |
R277L |
possibly damaging |
Het |
| Ccdc61 |
A |
T |
7: 18,634,865 (GRCm39) |
I123N |
probably damaging |
Het |
| Ccr9 |
T |
G |
9: 123,608,499 (GRCm39) |
I60M |
probably benign |
Het |
| Cd163 |
T |
A |
6: 124,303,531 (GRCm39) |
W1066R |
probably benign |
Het |
| Cd226 |
A |
T |
18: 89,225,307 (GRCm39) |
H68L |
probably benign |
Het |
| Cdkn3 |
T |
A |
14: 47,004,674 (GRCm39) |
C79S |
probably null |
Het |
| Cnnm1 |
A |
T |
19: 43,458,162 (GRCm39) |
E658V |
probably benign |
Het |
| Cog7 |
T |
C |
7: 121,555,252 (GRCm39) |
R304G |
probably damaging |
Het |
| Cpt1a |
T |
A |
19: 3,415,760 (GRCm39) |
V286E |
possibly damaging |
Het |
| Creg2 |
C |
A |
1: 39,664,122 (GRCm39) |
R212L |
probably benign |
Het |
| Cyp26a1 |
T |
G |
19: 37,688,410 (GRCm39) |
S311A |
probably damaging |
Het |
| Cyp2b10 |
T |
C |
7: 25,625,648 (GRCm39) |
Y484H |
probably benign |
Het |
| Cyp3a44 |
T |
A |
5: 145,725,277 (GRCm39) |
Y308F |
possibly damaging |
Het |
| Dlg5 |
A |
G |
14: 24,214,157 (GRCm39) |
V744A |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,522,103 (GRCm39) |
D4030G |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,458,730 (GRCm39) |
T4456A |
possibly damaging |
Het |
| Dtx2 |
T |
A |
5: 136,052,553 (GRCm39) |
V347D |
probably benign |
Het |
| Gigyf2 |
C |
T |
1: 87,334,889 (GRCm39) |
T294M |
probably damaging |
Het |
| Gli3 |
C |
G |
13: 15,900,747 (GRCm39) |
S1378* |
probably null |
Het |
| Gnao1 |
G |
A |
8: 94,693,627 (GRCm39) |
D337N |
probably benign |
Het |
| Gp2 |
T |
A |
7: 119,048,352 (GRCm39) |
Q422L |
probably benign |
Het |
| Ifit1 |
T |
A |
19: 34,625,869 (GRCm39) |
M335K |
possibly damaging |
Het |
| Ism1 |
T |
C |
2: 139,520,677 (GRCm39) |
S30P |
probably benign |
Het |
| Itgax |
A |
G |
7: 127,739,619 (GRCm39) |
D677G |
probably damaging |
Het |
| Kansl1l |
G |
A |
1: 66,765,081 (GRCm39) |
A442V |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 46,925,000 (GRCm39) |
I311M |
probably damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,432,946 (GRCm39) |
S1232P |
possibly damaging |
Het |
| Lsm14b |
T |
A |
2: 179,673,218 (GRCm39) |
S84R |
probably benign |
Het |
| Lzts3 |
A |
G |
2: 130,478,208 (GRCm39) |
Y297H |
probably damaging |
Het |
| Map4k3 |
A |
G |
17: 80,952,191 (GRCm39) |
I205T |
probably damaging |
Het |
| Matn2 |
A |
T |
15: 34,410,311 (GRCm39) |
N501I |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,752,925 (GRCm39) |
E776G |
probably damaging |
Het |
| Mex3d |
A |
T |
10: 80,218,421 (GRCm39) |
N265K |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,111,115 (GRCm39) |
T1534A |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,580,632 (GRCm39) |
M35V |
probably damaging |
Het |
| Nek4 |
G |
A |
14: 30,679,036 (GRCm39) |
|
probably null |
Het |
| Ngrn |
T |
C |
7: 79,911,681 (GRCm39) |
|
probably null |
Het |
| Nlrp1a |
T |
A |
11: 71,013,846 (GRCm39) |
Q468L |
probably benign |
Het |
| Or11g27 |
T |
A |
14: 50,771,655 (GRCm39) |
M262K |
probably damaging |
Het |
| Or5b98 |
A |
C |
19: 12,931,895 (GRCm39) |
Q314P |
probably benign |
Het |
| Phtf2 |
T |
C |
5: 20,980,932 (GRCm39) |
D433G |
probably damaging |
Het |
| Prdm13 |
G |
A |
4: 21,683,852 (GRCm39) |
Q140* |
probably null |
Het |
| Prtg |
G |
A |
9: 72,799,536 (GRCm39) |
G778E |
probably benign |
Het |
| Pum3 |
T |
C |
19: 27,397,451 (GRCm39) |
E308G |
probably damaging |
Het |
| Pwp1 |
T |
G |
10: 85,718,750 (GRCm39) |
F306V |
probably damaging |
Het |
| Rab24 |
A |
T |
13: 55,469,389 (GRCm39) |
Y27N |
probably damaging |
Het |
| Rnf215 |
T |
C |
11: 4,085,898 (GRCm39) |
F126L |
probably benign |
Het |
| Samd13 |
A |
T |
3: 146,386,451 (GRCm39) |
|
probably benign |
Het |
| Serac1 |
T |
A |
17: 6,115,324 (GRCm39) |
H213L |
probably benign |
Het |
| Slc45a3 |
A |
G |
1: 131,905,811 (GRCm39) |
E278G |
probably damaging |
Het |
| Slit3 |
C |
T |
11: 35,591,063 (GRCm39) |
R1292C |
probably damaging |
Het |
| Slx4 |
A |
T |
16: 3,818,815 (GRCm39) |
|
probably null |
Het |
| Smarca4 |
C |
A |
9: 21,558,726 (GRCm39) |
T631K |
probably benign |
Het |
| Snx16 |
C |
T |
3: 10,499,541 (GRCm39) |
R163Q |
possibly damaging |
Het |
| Stk40 |
T |
C |
4: 126,022,688 (GRCm39) |
V140A |
probably damaging |
Het |
| Tcf12 |
A |
T |
9: 71,775,522 (GRCm39) |
D409E |
probably damaging |
Het |
| Tgfbr2 |
G |
T |
9: 115,939,323 (GRCm39) |
T168K |
possibly damaging |
Het |
| Ticam1 |
G |
T |
17: 56,578,703 (GRCm39) |
H131N |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,660,232 (GRCm39) |
R7458I |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,543,855 (GRCm39) |
E31298* |
probably null |
Het |
| Usp7 |
A |
G |
16: 8,529,966 (GRCm39) |
V133A |
possibly damaging |
Het |
| Wbp1l |
C |
T |
19: 46,642,619 (GRCm39) |
R191* |
probably null |
Het |
| Wdfy4 |
T |
C |
14: 32,827,968 (GRCm39) |
E1118G |
probably damaging |
Het |
| Zfp81 |
G |
C |
17: 33,555,819 (GRCm39) |
P3A |
probably damaging |
Het |
| Znhit6 |
A |
G |
3: 145,282,688 (GRCm39) |
K21R |
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 |
|
|
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'- CGCAGCACTTCAATGAAGAG -3'
(R):5'- ACTGGTCTAAGAGGTTGGCG -3'
Sequencing Primer
(F):5'- CAGCACTTCAATGAAGAGAGGTAC -3'
(R):5'- TGTGGGACATGGCGCAATC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation