Incidental Mutation 'R7219:Dlgap2'
| ID |
561660 |
| 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 |
045291-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7219 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
14145865-14897680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14793296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 430
(E430G)
|
| 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: E429G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: E429G
| 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: E429G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: E429G
| 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: E429G
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: E429G
| 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: E430G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: E430G
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
97% (77/79) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,667,508 (GRCm39) |
S300P |
unknown |
Het |
| Abhd17a |
T |
A |
10: 80,420,008 (GRCm39) |
K226* |
probably null |
Het |
| Alkbh7 |
T |
A |
17: 57,305,508 (GRCm39) |
H108Q |
probably damaging |
Het |
| Ankrd44 |
A |
C |
1: 54,806,069 (GRCm39) |
H112Q |
probably damaging |
Het |
| Capn3 |
A |
G |
2: 120,333,935 (GRCm39) |
E790G |
probably damaging |
Het |
| Cd47 |
C |
A |
16: 49,728,440 (GRCm39) |
N330K |
possibly damaging |
Het |
| Cd55 |
A |
G |
1: 130,390,343 (GRCm39) |
S22P |
possibly damaging |
Het |
| Cdc25a |
A |
G |
9: 109,718,154 (GRCm39) |
I373V |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,779,912 (GRCm39) |
I514V |
probably benign |
Het |
| Cfap73 |
A |
T |
5: 120,768,200 (GRCm39) |
M186K |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,728,394 (GRCm39) |
D1270G |
unknown |
Het |
| Ciita |
A |
G |
16: 10,330,121 (GRCm39) |
T802A |
probably benign |
Het |
| Dlx1 |
C |
A |
2: 71,360,513 (GRCm39) |
S59* |
probably null |
Het |
| Dnaaf3 |
T |
C |
7: 4,531,076 (GRCm39) |
N119S |
probably damaging |
Het |
| Dnah11 |
T |
G |
12: 118,004,830 (GRCm39) |
I2164L |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 118,090,624 (GRCm39) |
K1079R |
probably benign |
Het |
| Dnah12 |
C |
T |
14: 26,576,837 (GRCm39) |
T3029I |
probably damaging |
Het |
| Dppa3 |
A |
T |
6: 122,606,918 (GRCm39) |
Y136F |
probably damaging |
Het |
| Enox1 |
T |
A |
14: 77,958,284 (GRCm39) |
M611K |
probably benign |
Het |
| Fam149a |
A |
T |
8: 45,803,600 (GRCm39) |
I378N |
possibly damaging |
Het |
| Farp2 |
T |
C |
1: 93,488,040 (GRCm39) |
F89S |
probably damaging |
Het |
| Fbn2 |
C |
T |
18: 58,186,099 (GRCm39) |
V1750M |
probably benign |
Het |
| Frs3 |
A |
G |
17: 48,013,620 (GRCm39) |
T181A |
probably damaging |
Het |
| Heatr4 |
T |
A |
12: 84,004,644 (GRCm39) |
I726F |
possibly damaging |
Het |
| Ighg1 |
T |
G |
12: 113,290,216 (GRCm39) |
E375A |
|
Het |
| Ikzf4 |
G |
T |
10: 128,470,252 (GRCm39) |
Q476K |
possibly damaging |
Het |
| Kcnh1 |
G |
T |
1: 192,187,945 (GRCm39) |
C829F |
probably benign |
Het |
| Krtap19-4 |
T |
C |
16: 88,681,797 (GRCm39) |
Y53C |
unknown |
Het |
| Loricrin |
C |
A |
3: 91,988,705 (GRCm39) |
G194C |
unknown |
Het |
| Lrp1 |
A |
C |
10: 127,393,097 (GRCm39) |
D2720E |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,322,368 (GRCm39) |
Y1068C |
probably damaging |
Het |
| Mbnl1 |
A |
G |
3: 60,511,244 (GRCm39) |
N67D |
probably benign |
Het |
| Mrpl21 |
A |
G |
19: 3,336,998 (GRCm39) |
E123G |
probably benign |
Het |
| Mst1 |
A |
T |
9: 107,958,485 (GRCm39) |
D65V |
probably damaging |
Het |
| Myo15b |
T |
A |
11: 115,767,921 (GRCm39) |
|
probably null |
Het |
| Myo5a |
A |
G |
9: 75,028,052 (GRCm39) |
Y79C |
probably damaging |
Het |
| Oas1c |
A |
T |
5: 120,940,957 (GRCm39) |
W279R |
probably damaging |
Het |
| Or4f4-ps1 |
A |
T |
2: 111,330,532 (GRCm39) |
M312L |
probably benign |
Het |
| Or4k77 |
A |
T |
2: 111,199,882 (GRCm39) |
I302L |
probably benign |
Het |
| Or51f5 |
A |
G |
7: 102,430,913 (GRCm39) |
I77V |
probably benign |
Het |
| Pcdh9 |
C |
T |
14: 93,253,216 (GRCm39) |
G1149D |
possibly damaging |
Het |
| Pcid2 |
G |
A |
8: 13,129,907 (GRCm39) |
T283I |
probably benign |
Het |
| Pdhx |
A |
G |
2: 102,858,760 (GRCm39) |
V348A |
probably benign |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Psmb3 |
T |
A |
11: 97,602,023 (GRCm39) |
M131K |
probably null |
Het |
| Raph1 |
A |
G |
1: 60,542,032 (GRCm39) |
Y309H |
unknown |
Het |
| Rasgrf1 |
A |
G |
9: 89,866,341 (GRCm39) |
N593S |
probably damaging |
Het |
| Rbm38 |
A |
C |
2: 172,863,990 (GRCm39) |
E53A |
possibly damaging |
Het |
| Rufy3 |
A |
G |
5: 88,797,715 (GRCm39) |
T631A |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,543,722 (GRCm39) |
D272E |
probably benign |
Het |
| Scamp1 |
T |
A |
13: 94,361,415 (GRCm39) |
Y207F |
probably damaging |
Het |
| Scn8a |
T |
A |
15: 100,866,984 (GRCm39) |
S263R |
probably damaging |
Het |
| Setbp1 |
T |
G |
18: 78,798,960 (GRCm39) |
T1407P |
probably damaging |
Het |
| Skor2 |
T |
C |
18: 76,948,096 (GRCm39) |
L606P |
possibly damaging |
Het |
| Slc35f6 |
A |
G |
5: 30,814,796 (GRCm39) |
N241S |
probably benign |
Het |
| Slc36a2 |
T |
G |
11: 55,059,744 (GRCm39) |
D247A |
probably benign |
Het |
| Smim10l1 |
T |
A |
6: 133,084,895 (GRCm39) |
F87L |
unknown |
Het |
| Son |
T |
C |
16: 91,461,889 (GRCm39) |
S2265P |
unknown |
Het |
| Spta1 |
A |
G |
1: 174,050,203 (GRCm39) |
N1748D |
probably damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,774,201 (GRCm39) |
D84G |
probably damaging |
Het |
| Tasor2 |
T |
A |
13: 3,640,521 (GRCm39) |
L205F |
probably damaging |
Het |
| Tbc1d24 |
G |
A |
17: 24,404,266 (GRCm39) |
R293C |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,036,268 (GRCm39) |
T65A |
probably benign |
Het |
| Thyn1 |
A |
G |
9: 26,916,506 (GRCm39) |
Y97C |
probably damaging |
Het |
| Tmem64 |
T |
C |
4: 15,266,700 (GRCm39) |
L250P |
probably damaging |
Het |
| Tnfrsf9 |
A |
T |
4: 151,019,991 (GRCm39) |
K217N |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,898,039 (GRCm39) |
T896A |
probably benign |
Het |
| Trpm1 |
T |
A |
7: 63,854,333 (GRCm39) |
I285N |
possibly damaging |
Het |
| Try5 |
T |
A |
6: 41,288,637 (GRCm39) |
D194V |
probably damaging |
Het |
| U2surp |
G |
A |
9: 95,372,215 (GRCm39) |
R316* |
probably null |
Het |
| Ubr2 |
G |
T |
17: 47,246,360 (GRCm39) |
S1618* |
probably null |
Het |
| Ugp2 |
T |
C |
11: 21,273,271 (GRCm39) |
I449M |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,201,236 (GRCm39) |
|
probably null |
Het |
| Vmn2r31 |
C |
T |
7: 7,390,105 (GRCm39) |
V538I |
probably benign |
Het |
| Vmn2r31 |
A |
T |
7: 7,397,397 (GRCm39) |
M287K |
probably damaging |
Het |
| Wwc2 |
A |
G |
8: 48,311,919 (GRCm39) |
V748A |
unknown |
Het |
| Zfp800 |
A |
C |
6: 28,243,662 (GRCm39) |
H434Q |
probably benign |
Het |
| Zfp869 |
A |
G |
8: 70,159,356 (GRCm39) |
C406R |
probably damaging |
Het |
| Zhx1 |
A |
G |
15: 57,917,733 (GRCm39) |
V171A |
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 |
|
|
R6913:Dlgap2
|
UTSW |
8 |
14,828,374 (GRCm39) |
missense |
probably benign |
0.10 |
|
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'- CAAGCCTTTACATGTACACGAC -3'
(R):5'- CCACAGCTAAACAGCCTTTGG -3'
Sequencing Primer
(F):5'- CACGACTTAAAATGATAATAGGGCC -3'
(R):5'- CACAGCTAAACAGCCTTTGGAGAAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation