Incidental Mutation 'R6913:Dlgap2'
| ID |
539173 |
| 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 |
045034-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6913 (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 14828374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 594
(M594K)
|
| 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: M593K
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: M593K
| 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: M593K
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: M593K
| 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
AA Change: M593K
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: M593K
| 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: M594K
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: M594K
| 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: 99.1%
- 20x: 96.9%
|
| Validation Efficiency |
97% (74/76) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,197,494 (GRCm39) |
I619N |
possibly damaging |
Het |
| Accsl |
T |
C |
2: 93,696,488 (GRCm39) |
K41E |
possibly damaging |
Het |
| Actr6 |
T |
C |
10: 89,562,558 (GRCm39) |
E107G |
probably damaging |
Het |
| Adam7 |
T |
A |
14: 68,771,100 (GRCm39) |
M9L |
probably benign |
Het |
| Adamts12 |
T |
A |
15: 11,215,778 (GRCm39) |
H266Q |
probably damaging |
Het |
| Adamts16 |
A |
G |
13: 70,877,017 (GRCm39) |
F1208S |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,621,650 (GRCm39) |
D734G |
probably benign |
Het |
| Ap1b1 |
T |
C |
11: 4,962,972 (GRCm39) |
V43A |
possibly damaging |
Het |
| Asnsd1 |
A |
G |
1: 53,387,390 (GRCm39) |
V79A |
probably damaging |
Het |
| Aste1 |
T |
A |
9: 105,274,607 (GRCm39) |
S221R |
probably benign |
Het |
| Ccndbp1 |
G |
A |
2: 120,840,347 (GRCm39) |
E94K |
probably benign |
Het |
| Cdc34 |
G |
A |
10: 79,520,937 (GRCm39) |
|
probably null |
Het |
| Cdh16 |
T |
C |
8: 105,348,896 (GRCm39) |
D67G |
probably benign |
Het |
| Chd8 |
T |
C |
14: 52,451,951 (GRCm39) |
E1348G |
probably damaging |
Het |
| Chl1 |
C |
T |
6: 103,642,909 (GRCm39) |
Q216* |
probably null |
Het |
| Cse1l |
G |
A |
2: 166,771,797 (GRCm39) |
V353I |
possibly damaging |
Het |
| Ctbp2 |
G |
A |
7: 132,616,455 (GRCm39) |
S160F |
possibly damaging |
Het |
| Cyp1a1 |
C |
A |
9: 57,607,576 (GRCm39) |
T68K |
probably damaging |
Het |
| Dennd11 |
T |
C |
6: 40,383,851 (GRCm39) |
N397S |
possibly damaging |
Het |
| Dnah6 |
C |
T |
6: 73,189,505 (GRCm39) |
E48K |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,647,049 (GRCm39) |
V35A |
probably damaging |
Het |
| Edem2 |
A |
T |
2: 155,568,594 (GRCm39) |
S73R |
probably damaging |
Het |
| Eps15 |
T |
C |
4: 109,218,427 (GRCm39) |
V430A |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,424,242 (GRCm39) |
N3065S |
probably damaging |
Het |
| Gal3st4 |
A |
T |
5: 138,269,090 (GRCm39) |
S123R |
possibly damaging |
Het |
| Garnl3 |
T |
A |
2: 32,876,841 (GRCm39) |
I937F |
possibly damaging |
Het |
| Gfod2 |
C |
T |
8: 106,443,995 (GRCm39) |
V183M |
possibly damaging |
Het |
| Glipr1l1 |
T |
C |
10: 111,898,339 (GRCm39) |
|
probably null |
Het |
| Gm7145 |
T |
G |
1: 117,913,711 (GRCm39) |
C198G |
probably damaging |
Het |
| Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
| H2-Eb2 |
G |
A |
17: 34,552,523 (GRCm39) |
A123T |
possibly damaging |
Het |
| Ighv1-55 |
T |
C |
12: 115,172,129 (GRCm39) |
I7V |
probably benign |
Het |
| Itpripl2 |
G |
T |
7: 118,090,332 (GRCm39) |
P76T |
possibly damaging |
Het |
| Kat6a |
C |
A |
8: 23,393,215 (GRCm39) |
A231E |
possibly damaging |
Het |
| Lipo3 |
C |
T |
19: 33,757,705 (GRCm39) |
V255I |
probably benign |
Het |
| Mamstr |
A |
T |
7: 45,292,662 (GRCm39) |
M141L |
probably benign |
Het |
| Med13 |
A |
G |
11: 86,210,702 (GRCm39) |
V480A |
probably benign |
Het |
| Mei1 |
A |
G |
15: 81,973,810 (GRCm39) |
N523S |
probably benign |
Het |
| Mill2 |
A |
G |
7: 18,590,351 (GRCm39) |
T144A |
probably null |
Het |
| Muc16 |
C |
A |
9: 18,553,959 (GRCm39) |
L4111F |
unknown |
Het |
| Mylk2 |
G |
A |
2: 152,755,610 (GRCm39) |
G258E |
possibly damaging |
Het |
| Myom2 |
T |
G |
8: 15,115,710 (GRCm39) |
S42A |
probably benign |
Het |
| Nab1 |
C |
A |
1: 52,503,995 (GRCm39) |
G401C |
possibly damaging |
Het |
| Nifk |
T |
C |
1: 118,260,592 (GRCm39) |
V244A |
possibly damaging |
Het |
| Nipsnap2 |
C |
A |
5: 129,830,357 (GRCm39) |
Q224K |
probably benign |
Het |
| Nop16 |
T |
G |
13: 54,737,553 (GRCm39) |
K47Q |
probably damaging |
Het |
| Nup153 |
A |
T |
13: 46,853,192 (GRCm39) |
S548R |
probably damaging |
Het |
| Or2at1 |
A |
C |
7: 99,416,924 (GRCm39) |
D185A |
probably damaging |
Het |
| Or4g17 |
A |
G |
2: 111,209,347 (GRCm39) |
M1V |
probably null |
Het |
| Or5b111 |
A |
G |
19: 13,290,998 (GRCm39) |
I217T |
probably benign |
Het |
| Pard6g |
G |
A |
18: 80,160,534 (GRCm39) |
V216I |
possibly damaging |
Het |
| Pcdh20 |
C |
T |
14: 88,706,038 (GRCm39) |
V421I |
probably benign |
Het |
| Pcif1 |
G |
A |
2: 164,726,224 (GRCm39) |
|
probably null |
Het |
| Pde11a |
C |
A |
2: 76,168,084 (GRCm39) |
V290F |
probably damaging |
Het |
| Pisd |
T |
C |
5: 32,894,773 (GRCm39) |
Y511C |
probably damaging |
Het |
| Polg |
A |
T |
7: 79,110,405 (GRCm39) |
D276E |
probably damaging |
Het |
| Polr3b |
T |
C |
10: 84,549,496 (GRCm39) |
V906A |
probably damaging |
Het |
| Prkcg |
C |
T |
7: 3,362,335 (GRCm39) |
P270S |
probably benign |
Het |
| Rapgef2 |
T |
A |
3: 78,993,281 (GRCm39) |
I884F |
probably damaging |
Het |
| Rpl13 |
C |
A |
8: 123,830,014 (GRCm39) |
N113K |
possibly damaging |
Het |
| Rxra |
T |
A |
2: 27,631,186 (GRCm39) |
I139N |
probably damaging |
Het |
| Sf3b5 |
T |
A |
10: 12,884,487 (GRCm39) |
C41S |
probably benign |
Het |
| Spata31e3 |
G |
T |
13: 50,399,293 (GRCm39) |
P1011H |
probably damaging |
Het |
| Stk24 |
C |
T |
14: 121,540,221 (GRCm39) |
R126Q |
probably damaging |
Het |
| Taar8b |
T |
C |
10: 23,967,963 (GRCm39) |
D77G |
possibly damaging |
Het |
| Tbc1d1 |
T |
A |
5: 64,468,452 (GRCm39) |
C566S |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,751,972 (GRCm39) |
M948K |
probably damaging |
Het |
| Thbs4 |
T |
A |
13: 92,894,444 (GRCm39) |
Q693L |
possibly damaging |
Het |
| Tnfrsf26 |
A |
T |
7: 143,172,126 (GRCm39) |
C61* |
probably null |
Het |
| Trp63 |
A |
G |
16: 25,707,918 (GRCm39) |
E636G |
probably damaging |
Het |
| Try5 |
T |
C |
6: 41,288,266 (GRCm39) |
Y121C |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,660,755 (GRCm39) |
|
probably benign |
Het |
| Vamp1 |
T |
A |
6: 125,195,908 (GRCm39) |
V55D |
probably damaging |
Het |
| Vmn2r117 |
T |
C |
17: 23,698,537 (GRCm39) |
N12S |
probably damaging |
Het |
| Vmn2r90 |
G |
A |
17: 17,924,323 (GRCm39) |
G41S |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,007,775 (GRCm39) |
D71E |
probably benign |
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 |
|
|
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'- CGGCATCACGTGTGCTATTG -3'
(R):5'- TCAGAAGGCTGTTGCGCATG -3'
Sequencing Primer
(F):5'- GCTGTTCCAGATGAGTGAAGC -3'
(R):5'- AAGGCTGTTGCGCATGTCATTATG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation