Incidental Mutation 'R9328:Dlgap2'
| ID |
706653 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9328 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
14145865-14897680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14777441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 229
(S229G)
|
| 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: S228G
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: S228G
| 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: S228G
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: S228G
| 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 damaging
Transcript: ENSMUST00000150247
AA Change: S228G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: S228G
| 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: S229G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: S229G
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600014C10Rik |
A |
G |
7: 37,894,272 (GRCm39) |
T102A |
probably benign |
Het |
| 1700109H08Rik |
A |
G |
5: 3,632,161 (GRCm39) |
K164E |
possibly damaging |
Het |
| 2610042L04Rik |
C |
T |
14: 4,350,013 (GRCm38) |
Q74* |
probably null |
Het |
| Aadacl4fm4 |
T |
A |
4: 144,401,256 (GRCm39) |
H76L |
probably benign |
Het |
| Adgrb2 |
T |
A |
4: 129,915,363 (GRCm39) |
M1381K |
probably damaging |
Het |
| Adgrv1 |
C |
A |
13: 81,620,523 (GRCm39) |
D3975Y |
probably damaging |
Het |
| Ano10 |
C |
T |
9: 122,090,168 (GRCm39) |
E382K |
possibly damaging |
Het |
| Ascc3 |
T |
C |
10: 50,535,015 (GRCm39) |
V636A |
probably damaging |
Het |
| AU040320 |
T |
C |
4: 126,729,332 (GRCm39) |
V498A |
possibly damaging |
Het |
| Bahcc1 |
C |
T |
11: 120,165,885 (GRCm39) |
T1047I |
possibly damaging |
Het |
| BC004004 |
A |
T |
17: 29,501,682 (GRCm39) |
T74S |
possibly damaging |
Het |
| Bend3 |
A |
G |
10: 43,387,419 (GRCm39) |
D604G |
possibly damaging |
Het |
| Brinp3 |
T |
A |
1: 146,707,455 (GRCm39) |
V373E |
probably damaging |
Het |
| Bsph2 |
A |
T |
7: 13,290,764 (GRCm39) |
D38E |
probably benign |
Het |
| Castor1 |
T |
C |
11: 4,170,423 (GRCm39) |
F140L |
probably benign |
Het |
| Catsperd |
A |
G |
17: 56,965,074 (GRCm39) |
I474V |
possibly damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,902,447 (GRCm39) |
N292S |
possibly damaging |
Het |
| Cd1d1 |
A |
T |
3: 86,905,459 (GRCm39) |
V178E |
possibly damaging |
Het |
| Cdca2 |
T |
A |
14: 67,931,131 (GRCm39) |
R521W |
probably damaging |
Het |
| Champ1 |
A |
G |
8: 13,929,392 (GRCm39) |
K517E |
probably damaging |
Het |
| Chrna9 |
T |
C |
5: 66,128,569 (GRCm39) |
F259S |
probably damaging |
Het |
| Chuk |
A |
T |
19: 44,085,422 (GRCm39) |
C241* |
probably null |
Het |
| Clns1a |
A |
G |
7: 97,363,240 (GRCm39) |
Y204C |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,215,692 (GRCm39) |
D416G |
probably damaging |
Het |
| Cyp2j7 |
A |
T |
4: 96,115,869 (GRCm39) |
N192K |
probably damaging |
Het |
| Ddr2 |
A |
G |
1: 169,829,504 (GRCm39) |
V250A |
probably benign |
Het |
| Dmrt1 |
A |
T |
19: 25,523,231 (GRCm39) |
H194L |
probably damaging |
Het |
| Dock7 |
A |
T |
4: 98,968,064 (GRCm39) |
F138I |
|
Het |
| Dsg2 |
T |
C |
18: 20,715,847 (GRCm39) |
V263A |
possibly damaging |
Het |
| Dusp16 |
A |
G |
6: 134,716,902 (GRCm39) |
L135P |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,050,895 (GRCm39) |
N414S |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,030,598 (GRCm39) |
Y177C |
probably damaging |
Het |
| Fam83e |
A |
T |
7: 45,372,912 (GRCm39) |
R174S |
probably benign |
Het |
| Fgf4 |
C |
T |
7: 144,416,664 (GRCm39) |
L199F |
probably damaging |
Het |
| Fignl2 |
A |
G |
15: 100,951,271 (GRCm39) |
L337P |
unknown |
Het |
| Gm4353 |
T |
C |
7: 115,682,724 (GRCm39) |
R286G |
probably damaging |
Het |
| Gm5142 |
T |
C |
14: 59,416,126 (GRCm39) |
S11G |
probably benign |
Het |
| Gpr151 |
A |
G |
18: 42,712,270 (GRCm39) |
V136A |
probably damaging |
Het |
| Ift80 |
T |
A |
3: 68,847,483 (GRCm39) |
I338F |
probably damaging |
Het |
| Itgb4 |
A |
G |
11: 115,880,625 (GRCm39) |
S693G |
probably benign |
Het |
| Kif13a |
T |
A |
13: 46,951,838 (GRCm39) |
I812F |
probably damaging |
Het |
| Krit1 |
T |
C |
5: 3,862,577 (GRCm39) |
|
probably null |
Het |
| Mapk6 |
T |
C |
9: 75,305,252 (GRCm39) |
D55G |
possibly damaging |
Het |
| Matn3 |
A |
G |
12: 9,002,033 (GRCm39) |
I82V |
possibly damaging |
Het |
| Mecom |
T |
A |
3: 30,063,994 (GRCm39) |
D32V |
unknown |
Het |
| Nacad |
T |
C |
11: 6,552,417 (GRCm39) |
H258R |
possibly damaging |
Het |
| Ndufaf5 |
T |
A |
2: 140,030,752 (GRCm39) |
S213T |
possibly damaging |
Het |
| Nphp1 |
C |
T |
2: 127,582,892 (GRCm39) |
D674N |
possibly damaging |
Het |
| Nsmaf |
A |
G |
4: 6,426,412 (GRCm39) |
L250P |
probably damaging |
Het |
| Ogdh |
T |
C |
11: 6,297,838 (GRCm39) |
S571P |
probably benign |
Het |
| Or1e31 |
T |
C |
11: 73,690,478 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or51i2 |
T |
A |
7: 103,689,268 (GRCm39) |
D88E |
|
Het |
| Or8g27 |
T |
C |
9: 39,129,175 (GRCm39) |
I174T |
probably damaging |
Het |
| Osbpl11 |
A |
G |
16: 33,047,245 (GRCm39) |
I403V |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pira13 |
T |
A |
7: 3,827,580 (GRCm39) |
R192S |
unknown |
Het |
| Plat |
A |
G |
8: 23,268,133 (GRCm39) |
R300G |
probably damaging |
Het |
| Ppid |
T |
C |
3: 79,505,059 (GRCm39) |
I134T |
probably damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,772 (GRCm39) |
I565V |
probably benign |
Het |
| Rasa1 |
T |
C |
13: 85,403,575 (GRCm39) |
|
probably null |
Het |
| Sema4a |
C |
T |
3: 88,345,613 (GRCm39) |
W490* |
probably null |
Het |
| Septin3 |
A |
G |
15: 82,173,439 (GRCm39) |
Y257C |
probably damaging |
Het |
| Sh3rf2 |
C |
A |
18: 42,274,161 (GRCm39) |
F442L |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,388,792 (GRCm39) |
I339M |
possibly damaging |
Het |
| Six2 |
T |
C |
17: 85,995,196 (GRCm39) |
N62S |
possibly damaging |
Het |
| Slc44a5 |
T |
C |
3: 153,964,678 (GRCm39) |
I526T |
probably benign |
Het |
| Smarca5 |
T |
C |
8: 81,447,378 (GRCm39) |
S402G |
probably benign |
Het |
| Son |
T |
A |
16: 91,452,645 (GRCm39) |
V464E |
possibly damaging |
Het |
| Sorcs3 |
A |
G |
19: 48,785,950 (GRCm39) |
K1144E |
probably damaging |
Het |
| Stxbp6 |
A |
G |
12: 44,902,659 (GRCm39) |
L204P |
probably damaging |
Het |
| Tchh |
A |
G |
3: 93,351,570 (GRCm39) |
R337G |
unknown |
Het |
| Tgm4 |
T |
C |
9: 122,885,697 (GRCm39) |
V413A |
possibly damaging |
Het |
| Tmem131 |
G |
A |
1: 36,858,236 (GRCm39) |
Q704* |
probably null |
Het |
| Tmpo |
T |
C |
10: 90,998,825 (GRCm39) |
K321E |
probably damaging |
Het |
| Trim75 |
G |
T |
8: 65,435,315 (GRCm39) |
N378K |
probably benign |
Het |
| Tspan18 |
T |
A |
2: 93,036,065 (GRCm39) |
I227F |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,541,526 (GRCm39) |
W33820* |
probably null |
Het |
| Urb2 |
T |
A |
8: 124,774,034 (GRCm39) |
Y1522N |
probably damaging |
Het |
| Zbtb40 |
T |
C |
4: 136,745,620 (GRCm39) |
N138D |
probably benign |
Het |
| Zfp715 |
A |
T |
7: 42,947,328 (GRCm39) |
H877Q |
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 |
|
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 |
|
|
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'- GCACCTTCCCTAGAATGCAC -3'
(R):5'- TCATACCAGACTTGTGCTTGC -3'
Sequencing Primer
(F):5'- TTCCCTAGAATGCACTACAGCTC -3'
(R):5'- CAGACTTGTGCTTGCTCTCTGG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation