Incidental Mutation 'R8301:Dlgap2'
| ID |
639265 |
| 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 |
067789-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8301 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
14145865-14897680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14873577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 727
(S727T)
|
| 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: S726T
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: S726T
| 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: S726T
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: S726T
| 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
AA Change: S727T
PolyPhen 2
Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: S727T
| 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 |
0.1131 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (71/71) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,120,364 (GRCm39) |
I374F |
probably benign |
Het |
| Ak9 |
G |
A |
10: 41,300,712 (GRCm39) |
V1108I |
|
Het |
| Aldh16a1 |
C |
T |
7: 44,791,406 (GRCm39) |
A790T |
possibly damaging |
Het |
| Anks1 |
A |
T |
17: 28,278,554 (GRCm39) |
|
probably benign |
Het |
| Antxr2 |
T |
G |
5: 98,125,538 (GRCm39) |
T240P |
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,250,058 (GRCm39) |
M945K |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,528,866 (GRCm39) |
T1591A |
probably benign |
Het |
| Aurka |
A |
G |
2: 172,198,850 (GRCm39) |
S374P |
probably damaging |
Het |
| Bccip |
T |
C |
7: 133,320,933 (GRCm39) |
S236P |
probably benign |
Het |
| Cacna1s |
T |
A |
1: 136,001,179 (GRCm39) |
|
probably benign |
Het |
| Calm1 |
A |
G |
12: 100,171,944 (GRCm39) |
E132G |
probably benign |
Het |
| Casz1 |
A |
G |
4: 149,030,500 (GRCm39) |
D1173G |
probably damaging |
Het |
| Cdh17 |
A |
G |
4: 11,795,659 (GRCm39) |
D413G |
probably damaging |
Het |
| Cfap57 |
A |
G |
4: 118,450,271 (GRCm39) |
I617T |
possibly damaging |
Het |
| Creb5 |
A |
G |
6: 53,658,018 (GRCm39) |
D116G |
possibly damaging |
Het |
| Csnka2ip |
A |
C |
16: 64,299,354 (GRCm39) |
S337A |
unknown |
Het |
| Ddx60 |
A |
G |
8: 62,453,631 (GRCm39) |
E1250G |
probably benign |
Het |
| Dpy19l1 |
T |
C |
9: 24,396,407 (GRCm39) |
|
probably benign |
Het |
| Ebf2 |
A |
G |
14: 67,476,431 (GRCm39) |
T134A |
possibly damaging |
Het |
| Echdc2 |
A |
T |
4: 108,030,106 (GRCm39) |
M136L |
probably benign |
Het |
| Enpp2 |
A |
G |
15: 54,714,803 (GRCm39) |
F598S |
probably benign |
Het |
| Extl3 |
A |
C |
14: 65,313,733 (GRCm39) |
L483R |
probably damaging |
Het |
| Gcat |
T |
C |
15: 78,920,089 (GRCm39) |
V227A |
possibly damaging |
Het |
| Hsf2 |
A |
G |
10: 57,381,442 (GRCm39) |
D344G |
probably damaging |
Het |
| Ighm |
C |
T |
12: 113,385,165 (GRCm39) |
G265D |
|
Het |
| Igsf9b |
T |
G |
9: 27,246,035 (GRCm39) |
|
probably benign |
Het |
| Ints6 |
A |
G |
14: 62,939,902 (GRCm39) |
V596A |
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,246,120 (GRCm39) |
E182G |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,818,659 (GRCm39) |
|
probably null |
Het |
| Kalrn |
G |
T |
16: 34,177,470 (GRCm39) |
Q250K |
probably benign |
Het |
| Lrrc1 |
T |
A |
9: 77,451,770 (GRCm39) |
N46Y |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Naa50 |
A |
G |
16: 43,977,494 (GRCm39) |
N74S |
probably benign |
Het |
| Neb |
T |
C |
2: 52,178,847 (GRCm39) |
N1303S |
probably benign |
Het |
| Nfs1 |
A |
T |
2: 155,976,413 (GRCm39) |
C160* |
probably null |
Het |
| Or11g7 |
T |
A |
14: 50,691,021 (GRCm39) |
S171T |
probably benign |
Het |
| Or52s1b |
T |
G |
7: 102,822,280 (GRCm39) |
K188T |
probably damaging |
Het |
| Or5p52 |
A |
G |
7: 107,502,833 (GRCm39) |
K303R |
probably benign |
Het |
| Or6c76 |
T |
C |
10: 129,612,709 (GRCm39) |
S309P |
probably benign |
Het |
| Orm2 |
T |
C |
4: 63,281,263 (GRCm39) |
F67S |
possibly damaging |
Het |
| Pex5 |
A |
G |
6: 124,382,142 (GRCm39) |
S180P |
probably benign |
Het |
| Phf14 |
G |
C |
6: 11,992,061 (GRCm39) |
G746R |
probably damaging |
Het |
| Pkm |
T |
A |
9: 59,575,914 (GRCm39) |
V110E |
probably damaging |
Het |
| Plekha6 |
T |
G |
1: 133,192,425 (GRCm39) |
N78K |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,472,483 (GRCm39) |
V1076I |
probably benign |
Het |
| Polq |
C |
A |
16: 36,882,181 (GRCm39) |
D1448E |
probably damaging |
Het |
| Pot1b |
T |
C |
17: 55,994,895 (GRCm39) |
T256A |
probably benign |
Het |
| Prkch |
C |
T |
12: 73,749,538 (GRCm39) |
T377I |
possibly damaging |
Het |
| Prl3c1 |
A |
C |
13: 27,383,168 (GRCm39) |
|
probably benign |
Het |
| Prl7b1 |
A |
C |
13: 27,786,755 (GRCm39) |
V158G |
possibly damaging |
Het |
| Prss22 |
T |
C |
17: 24,212,955 (GRCm39) |
S261G |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,309,541 (GRCm39) |
|
probably benign |
Het |
| Psg18 |
A |
T |
7: 18,087,302 (GRCm39) |
Y119N |
probably damaging |
Het |
| Rbm6 |
T |
G |
9: 107,729,993 (GRCm39) |
R218S |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,325,568 (GRCm39) |
S1491T |
|
Het |
| Rsf1 |
T |
C |
7: 97,311,132 (GRCm39) |
S621P |
|
Het |
| Runx1 |
C |
A |
16: 92,402,544 (GRCm39) |
*466L |
probably null |
Het |
| Samd4 |
A |
G |
14: 47,254,135 (GRCm39) |
I200V |
probably benign |
Het |
| Sdsl |
C |
T |
5: 120,597,584 (GRCm39) |
C241Y |
probably benign |
Het |
| Selenon |
T |
C |
4: 134,278,725 (GRCm39) |
|
probably benign |
Het |
| Setx |
C |
T |
2: 29,035,702 (GRCm39) |
P729L |
possibly damaging |
Het |
| Sf1 |
C |
T |
19: 6,418,396 (GRCm39) |
Q55* |
probably null |
Het |
| Slc12a5 |
A |
T |
2: 164,835,611 (GRCm39) |
N833I |
probably damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,282,286 (GRCm39) |
R63G |
probably damaging |
Het |
| Tmeff2 |
G |
T |
1: 51,220,996 (GRCm39) |
A324S |
probably benign |
Het |
| Tmem217 |
A |
G |
17: 29,745,466 (GRCm39) |
I88T |
possibly damaging |
Het |
| Tnfsf8 |
A |
T |
4: 63,779,115 (GRCm39) |
I61N |
probably benign |
Het |
| Tpbgl |
G |
T |
7: 99,274,774 (GRCm39) |
A361E |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,322,911 (GRCm39) |
E667V |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,263,568 (GRCm39) |
T1598A |
probably benign |
Het |
| Vmn2r73 |
A |
T |
7: 85,507,510 (GRCm39) |
C601S |
probably benign |
Het |
| Zfp873 |
C |
A |
10: 81,896,713 (GRCm39) |
H481Q |
probably 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 |
|
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'- TGCCAACGTAGGTTTGCCTC -3'
(R):5'- TGATGCACCCAACAGAGTG -3'
Sequencing Primer
(F):5'- TCAGCTCAGCCTGTGTGG -3'
(R):5'- CGAGCTTGGATTTGGAGA -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation