Incidental Mutation 'R4581:Dlgap2'
| ID |
343679 |
| 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 |
041802-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4581 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
14145865-14897680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14896679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 1052
(Y1052H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043279]
[ENSMUST00000133298]
[ENSMUST00000150247]
[ENSMUST00000152652]
|
| AlphaFold |
Q8BJ42 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043279
AA Change: Y1051H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: Y1051H
| 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: ENSMUST00000129119
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133298
AA Change: Y1051H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: Y1051H
| 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: ENSMUST00000150247
AA Change: Y1037H
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: Y1037H
| 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: Y1052H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: Y1052H
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
G |
T |
14: 32,383,828 (GRCm39) |
S712R |
possibly damaging |
Het |
| 4933427I04Rik |
A |
G |
4: 123,754,146 (GRCm39) |
D20G |
possibly damaging |
Het |
| Abca7 |
A |
G |
10: 79,842,402 (GRCm39) |
D1112G |
probably benign |
Het |
| Actc1 |
G |
T |
2: 113,880,089 (GRCm39) |
H175N |
possibly damaging |
Het |
| Adgrd1 |
C |
T |
5: 129,279,595 (GRCm39) |
A863V |
possibly damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,430,979 (GRCm39) |
D935G |
possibly damaging |
Het |
| Ankrd7 |
T |
A |
6: 18,868,020 (GRCm39) |
N95K |
probably damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,771,205 (GRCm39) |
E1171K |
possibly damaging |
Het |
| Ascc3 |
T |
C |
10: 50,587,121 (GRCm39) |
I991T |
probably damaging |
Het |
| Cacna1s |
T |
A |
1: 135,998,708 (GRCm39) |
|
probably null |
Het |
| Camk1d |
A |
T |
2: 5,359,515 (GRCm39) |
V177E |
probably benign |
Het |
| Cdh18 |
T |
A |
15: 23,226,869 (GRCm39) |
I110N |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,952,761 (GRCm39) |
K1484E |
probably benign |
Het |
| Cep68 |
A |
G |
11: 20,189,333 (GRCm39) |
S560P |
probably benign |
Het |
| Cog3 |
G |
T |
14: 75,970,391 (GRCm39) |
T352K |
probably benign |
Het |
| Cox6a2 |
A |
G |
7: 127,805,152 (GRCm39) |
S44P |
possibly damaging |
Het |
| Cplane1 |
C |
A |
15: 8,201,282 (GRCm39) |
P20T |
possibly damaging |
Het |
| Csmd2 |
T |
C |
4: 128,262,881 (GRCm39) |
V689A |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,476,295 (GRCm39) |
M1548L |
possibly damaging |
Het |
| Dennd5b |
G |
T |
6: 148,918,482 (GRCm39) |
|
silent |
Het |
| Dnaaf5 |
T |
A |
5: 139,170,440 (GRCm39) |
D502E |
probably damaging |
Het |
| Efhb |
C |
A |
17: 53,733,303 (GRCm39) |
A523S |
probably damaging |
Het |
| Epha8 |
C |
T |
4: 136,660,775 (GRCm39) |
V648M |
probably damaging |
Het |
| Fanca |
C |
T |
8: 124,001,077 (GRCm39) |
|
probably null |
Het |
| Fbxw7 |
G |
A |
3: 84,874,852 (GRCm39) |
E205K |
probably benign |
Het |
| Fer1l6 |
C |
T |
15: 58,512,075 (GRCm39) |
T1514I |
probably damaging |
Het |
| Gm12886 |
T |
C |
4: 121,273,880 (GRCm39) |
E112G |
probably damaging |
Het |
| Gm7535 |
T |
C |
17: 18,131,345 (GRCm39) |
|
probably benign |
Het |
| Irf2bp2 |
T |
A |
8: 127,317,994 (GRCm39) |
Q524L |
probably damaging |
Het |
| Itih4 |
A |
G |
14: 30,622,925 (GRCm39) |
D864G |
probably benign |
Het |
| Kdm4c |
T |
G |
4: 74,275,576 (GRCm39) |
|
probably null |
Het |
| Ltn1 |
A |
T |
16: 87,198,912 (GRCm39) |
|
probably null |
Het |
| Mafa |
G |
T |
15: 75,619,585 (GRCm39) |
P63T |
unknown |
Het |
| Mars2 |
T |
A |
1: 55,277,021 (GRCm39) |
L208H |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,156,459 (GRCm39) |
I769V |
probably benign |
Het |
| Nyap1 |
A |
G |
5: 137,734,284 (GRCm39) |
S250P |
probably damaging |
Het |
| Or8k35 |
A |
T |
2: 86,424,572 (GRCm39) |
M200K |
probably benign |
Het |
| Osmr |
C |
T |
15: 6,872,375 (GRCm39) |
V240I |
probably benign |
Het |
| Pcdhga3 |
A |
G |
18: 37,809,934 (GRCm39) |
T796A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,725,519 (GRCm39) |
V1459A |
unknown |
Het |
| Phactr3 |
A |
C |
2: 177,924,965 (GRCm39) |
H300P |
probably damaging |
Het |
| Pla2g4e |
T |
G |
2: 120,016,863 (GRCm39) |
H226P |
possibly damaging |
Het |
| Plcd4 |
T |
A |
1: 74,587,383 (GRCm39) |
W48R |
probably damaging |
Het |
| Prdm16 |
A |
G |
4: 154,407,810 (GRCm39) |
S1140P |
probably damaging |
Het |
| Rarg |
A |
C |
15: 102,160,986 (GRCm39) |
S18A |
possibly damaging |
Het |
| Rfx4 |
T |
A |
10: 84,680,164 (GRCm39) |
S114T |
possibly damaging |
Het |
| Sec14l4 |
G |
A |
11: 3,993,375 (GRCm39) |
|
probably null |
Het |
| Six1 |
T |
G |
12: 73,092,708 (GRCm39) |
T165P |
probably benign |
Het |
| Skint4 |
T |
C |
4: 111,944,239 (GRCm39) |
L17P |
probably damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,359,740 (GRCm39) |
Y337F |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,312,284 (GRCm39) |
Y627C |
probably damaging |
Het |
| Smu1 |
A |
C |
4: 40,737,401 (GRCm39) |
|
probably null |
Het |
| Spryd3 |
A |
G |
15: 102,038,799 (GRCm39) |
S141P |
probably damaging |
Het |
| Src |
A |
T |
2: 157,304,958 (GRCm39) |
N175I |
probably damaging |
Het |
| Srcap |
GCTCCTCCTCCTCCTCCT |
GCTCCTCCTCCTCCT |
7: 127,157,482 (GRCm39) |
|
probably benign |
Het |
| Stc2 |
A |
G |
11: 31,315,326 (GRCm39) |
|
probably null |
Het |
| Taf6l |
T |
C |
19: 8,755,572 (GRCm39) |
D261G |
probably damaging |
Het |
| Tal1 |
T |
G |
4: 114,921,919 (GRCm39) |
V167G |
probably damaging |
Het |
| Tfec |
G |
A |
6: 16,834,124 (GRCm39) |
T261I |
probably damaging |
Het |
| Tgfb1 |
G |
T |
7: 25,396,655 (GRCm39) |
S273I |
possibly damaging |
Het |
| Tmem8b |
T |
A |
4: 43,685,760 (GRCm39) |
V636E |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,946,380 (GRCm39) |
M1084K |
probably damaging |
Het |
| Trem3 |
A |
C |
17: 48,556,639 (GRCm39) |
T37P |
possibly damaging |
Het |
| Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,585,034 (GRCm39) |
D529G |
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,949,570 (GRCm39) |
T426S |
probably benign |
Het |
| Yipf4 |
T |
C |
17: 74,806,089 (GRCm39) |
Y243H |
probably benign |
Het |
| Zfp574 |
T |
A |
7: 24,780,738 (GRCm39) |
C587S |
probably damaging |
Het |
| Zfp93 |
C |
A |
7: 23,975,093 (GRCm39) |
H359Q |
probably damaging |
Het |
| Znfx1 |
T |
C |
2: 166,892,236 (GRCm39) |
E660G |
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 |
|
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 |
|
|
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'- GACCTTCTCTGACTTGTGATGC -3'
(R):5'- AATTGGAGCATCCGTCCACTG -3'
Sequencing Primer
(F):5'- CTTTTCAGGAAGAAAGGAAGATCCCC -3'
(R):5'- TGTCCACAGTGCAGAGAAC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation