Incidental Mutation 'R0026:Dlgap2'
| ID |
64495 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlgap2
|
| Ensembl Gene |
ENSMUSG00000047495 |
| Gene Name |
DLG associated protein 2 |
| Synonyms |
PSD-95/SAP90-binding protein 2, DAP2, Sapap2, 6430596N04Rik, SAP90/PSD-95-associated protein 2 |
| MMRRC Submission |
038321-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0026 (G1)
|
| Quality Score |
111 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
14095865-14847680 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 14727363 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 203
(Q203*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043279]
[ENSMUST00000133298]
[ENSMUST00000150247]
[ENSMUST00000152652]
|
| AlphaFold |
Q8BJ42 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043279
AA Change: Q202*
|
| SMART Domains |
Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: Q202*
| 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 null
Transcript: ENSMUST00000133298
AA Change: Q202*
|
| SMART Domains |
Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: Q202*
| 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: ENSMUST00000141214
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000150247
AA Change: Q202*
|
| SMART Domains |
Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: Q202*
| 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 null
Transcript: ENSMUST00000152652
AA Change: Q203*
|
| SMART Domains |
Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: Q203*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.3%
|
| Validation Efficiency |
93% (70/75) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 138,066,805 (GRCm38) |
I585N |
possibly damaging |
Het |
| 4931408C20Rik |
T |
A |
1: 26,683,369 (GRCm38) |
D910V |
probably benign |
Het |
| A830005F24Rik |
C |
T |
13: 48,514,372 (GRCm38) |
|
probably benign |
Het |
| Abca16 |
C |
T |
7: 120,477,923 (GRCm38) |
|
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,666,236 (GRCm38) |
L140F |
probably benign |
Het |
| Adam19 |
G |
T |
11: 46,136,259 (GRCm38) |
C573F |
probably damaging |
Het |
| Aff3 |
A |
G |
1: 38,203,893 (GRCm38) |
S948P |
probably benign |
Het |
| Anxa3 |
T |
A |
5: 96,838,401 (GRCm38) |
Y300N |
probably benign |
Het |
| BC016579 |
T |
C |
16: 45,640,367 (GRCm38) |
T113A |
probably benign |
Het |
| Bmpr1b |
A |
G |
3: 141,870,733 (GRCm38) |
L113P |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,219,400 (GRCm38) |
|
probably benign |
Het |
| Cdc16 |
T |
A |
8: 13,759,130 (GRCm38) |
|
probably null |
Het |
| Cep135 |
C |
T |
5: 76,606,734 (GRCm38) |
R353* |
probably null |
Het |
| Cma1 |
A |
T |
14: 55,942,164 (GRCm38) |
C188S |
probably damaging |
Het |
| Csf3r |
A |
G |
4: 126,031,884 (GRCm38) |
T151A |
probably benign |
Het |
| Cyp4b1 |
C |
T |
4: 115,647,521 (GRCm38) |
G56D |
possibly damaging |
Het |
| Dbn1 |
T |
C |
13: 55,477,784 (GRCm38) |
E275G |
probably damaging |
Het |
| Ephb3 |
A |
G |
16: 21,214,917 (GRCm38) |
D251G |
probably damaging |
Het |
| Fancd2os |
G |
T |
6: 113,597,691 (GRCm38) |
T118N |
probably damaging |
Het |
| Gm10801 |
T |
C |
2: 98,663,909 (GRCm38) |
|
probably benign |
Het |
| Got1l1 |
C |
T |
8: 27,200,248 (GRCm38) |
V132I |
probably benign |
Het |
| H2-M9 |
T |
C |
17: 36,641,527 (GRCm38) |
|
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,690,303 (GRCm38) |
V1278A |
probably benign |
Het |
| Kctd3 |
T |
C |
1: 188,976,621 (GRCm38) |
T519A |
probably damaging |
Het |
| Lgsn |
T |
A |
1: 31,203,443 (GRCm38) |
V202D |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,175,708 (GRCm38) |
F381L |
possibly damaging |
Het |
| Map1s |
G |
A |
8: 70,914,638 (GRCm38) |
G729D |
probably damaging |
Het |
| Mlycd |
A |
G |
8: 119,410,435 (GRCm38) |
I465V |
probably benign |
Het |
| Mrgprb1 |
T |
C |
7: 48,447,204 (GRCm38) |
R108G |
possibly damaging |
Het |
| Mrgprx2 |
T |
A |
7: 48,482,023 (GRCm38) |
H106L |
possibly damaging |
Het |
| Ncor1 |
T |
C |
11: 62,438,429 (GRCm38) |
Y6C |
probably damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,591,573 (GRCm38) |
D773G |
probably damaging |
Het |
| Nxnl1 |
A |
G |
8: 71,566,573 (GRCm38) |
S3P |
probably damaging |
Het |
| Olfr109 |
T |
A |
17: 37,466,803 (GRCm38) |
V199D |
probably damaging |
Het |
| Olfr921 |
G |
A |
9: 38,775,596 (GRCm38) |
V114I |
probably benign |
Het |
| Otud7a |
T |
C |
7: 63,735,801 (GRCm38) |
F338L |
probably benign |
Het |
| Pdcl3 |
T |
A |
1: 38,991,280 (GRCm38) |
L14Q |
probably damaging |
Het |
| Pla2g7 |
T |
A |
17: 43,594,930 (GRCm38) |
|
probably benign |
Het |
| Prpf31 |
T |
A |
7: 3,639,668 (GRCm38) |
N413K |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,689,161 (GRCm38) |
S307P |
probably benign |
Het |
| Relt |
C |
A |
7: 100,850,221 (GRCm38) |
E164* |
probably null |
Het |
| Rnf185 |
T |
C |
11: 3,426,617 (GRCm38) |
D86G |
probably damaging |
Het |
| Rrm2b |
T |
C |
15: 37,953,741 (GRCm38) |
E21G |
probably benign |
Het |
| Scn5a |
A |
G |
9: 119,522,566 (GRCm38) |
I783T |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 98,076,668 (GRCm38) |
R88G |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,546,468 (GRCm38) |
|
probably benign |
Het |
| Slc35b1 |
T |
C |
11: 95,390,642 (GRCm38) |
S294P |
probably benign |
Het |
| Slc5a2 |
T |
A |
7: 128,270,053 (GRCm38) |
I335N |
probably damaging |
Het |
| Sstr1 |
T |
A |
12: 58,212,858 (GRCm38) |
M89K |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,384,772 (GRCm38) |
S1612R |
possibly damaging |
Het |
| Taf1c |
T |
C |
8: 119,604,236 (GRCm38) |
|
probably null |
Het |
| Taf1d |
T |
A |
9: 15,308,648 (GRCm38) |
S64R |
probably damaging |
Het |
| Tmem125 |
A |
G |
4: 118,542,073 (GRCm38) |
S54P |
possibly damaging |
Het |
| Ttf1 |
T |
A |
2: 29,071,349 (GRCm38) |
I583N |
possibly damaging |
Het |
| Uchl4 |
A |
T |
9: 64,235,371 (GRCm38) |
|
probably null |
Het |
| Unc5b |
A |
T |
10: 60,774,592 (GRCm38) |
I482N |
possibly damaging |
Het |
| Unc80 |
C |
A |
1: 66,521,584 (GRCm38) |
Q824K |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,726,196 (GRCm38) |
|
probably benign |
Het |
| Vmn2r61 |
T |
G |
7: 42,275,474 (GRCm38) |
I484R |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,923,301 (GRCm38) |
I3774T |
possibly damaging |
Het |
| Yipf1 |
T |
A |
4: 107,345,160 (GRCm38) |
L240* |
probably null |
Het |
|
| Other mutations in Dlgap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01476:Dlgap2
|
APN |
8 |
14,778,301 (GRCm38) |
nonsense |
probably null |
|
|
IGL01788:Dlgap2
|
APN |
8 |
14,843,631 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL02054:Dlgap2
|
APN |
8 |
14,843,552 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02969:Dlgap2
|
APN |
8 |
14,831,579 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL03183:Dlgap2
|
APN |
8 |
14,727,525 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
IGL03303:Dlgap2
|
APN |
8 |
14,727,812 (GRCm38) |
missense |
probably damaging |
0.99 |
|
G1Funyon:Dlgap2
|
UTSW |
8 |
14,823,577 (GRCm38) |
missense |
probably benign |
0.27 |
|
PIT4403001:Dlgap2
|
UTSW |
8 |
14,831,528 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0242:Dlgap2
|
UTSW |
8 |
14,727,562 (GRCm38) |
missense |
probably benign |
0.34 |
|
R0242:Dlgap2
|
UTSW |
8 |
14,727,562 (GRCm38) |
missense |
probably benign |
0.34 |
|
R0647:Dlgap2
|
UTSW |
8 |
14,727,591 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1221:Dlgap2
|
UTSW |
8 |
14,726,952 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1374:Dlgap2
|
UTSW |
8 |
14,831,228 (GRCm38) |
splice site |
probably benign |
|
|
R1440:Dlgap2
|
UTSW |
8 |
14,727,060 (GRCm38) |
missense |
probably benign |
|
|
R1544:Dlgap2
|
UTSW |
8 |
14,829,861 (GRCm38) |
splice site |
probably null |
|
|
R1550:Dlgap2
|
UTSW |
8 |
14,822,499 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1804:Dlgap2
|
UTSW |
8 |
14,727,809 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R1870:Dlgap2
|
UTSW |
8 |
14,773,347 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1921:Dlgap2
|
UTSW |
8 |
14,843,624 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2119:Dlgap2
|
UTSW |
8 |
14,778,206 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R2193:Dlgap2
|
UTSW |
8 |
14,743,431 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R4381:Dlgap2
|
UTSW |
8 |
14,846,502 (GRCm38) |
missense |
probably benign |
|
|
R4422:Dlgap2
|
UTSW |
8 |
14,743,463 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4521:Dlgap2
|
UTSW |
8 |
14,727,871 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4581:Dlgap2
|
UTSW |
8 |
14,846,679 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4585:Dlgap2
|
UTSW |
8 |
14,727,999 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4760:Dlgap2
|
UTSW |
8 |
14,773,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5077:Dlgap2
|
UTSW |
8 |
14,822,691 (GRCm38) |
missense |
probably benign |
0.35 |
|
R5373:Dlgap2
|
UTSW |
8 |
14,823,614 (GRCm38) |
missense |
probably benign |
0.19 |
|
R5374:Dlgap2
|
UTSW |
8 |
14,823,614 (GRCm38) |
missense |
probably benign |
0.19 |
|
R5552:Dlgap2
|
UTSW |
8 |
14,831,342 (GRCm38) |
nonsense |
probably null |
|
|
R5964:Dlgap2
|
UTSW |
8 |
14,727,128 (GRCm38) |
nonsense |
probably null |
|
|
R6125:Dlgap2
|
UTSW |
8 |
14,727,193 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R6147:Dlgap2
|
UTSW |
8 |
14,727,294 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6163:Dlgap2
|
UTSW |
8 |
14,846,641 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6269:Dlgap2
|
UTSW |
8 |
14,822,369 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6629:Dlgap2
|
UTSW |
8 |
14,831,465 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6765:Dlgap2
|
UTSW |
8 |
14,743,284 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6809:Dlgap2
|
UTSW |
8 |
14,179,619 (GRCm38) |
intron |
probably benign |
|
|
R6913:Dlgap2
|
UTSW |
8 |
14,778,374 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7219:Dlgap2
|
UTSW |
8 |
14,743,296 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7485:Dlgap2
|
UTSW |
8 |
14,829,952 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7560:Dlgap2
|
UTSW |
8 |
14,822,697 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7826:Dlgap2
|
UTSW |
8 |
14,743,410 (GRCm38) |
missense |
probably benign |
0.38 |
|
R7976:Dlgap2
|
UTSW |
8 |
14,743,410 (GRCm38) |
missense |
probably benign |
0.38 |
|
R8101:Dlgap2
|
UTSW |
8 |
14,831,600 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8301:Dlgap2
|
UTSW |
8 |
14,823,577 (GRCm38) |
missense |
probably benign |
0.27 |
|
R8333:Dlgap2
|
UTSW |
8 |
14,778,295 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8367:Dlgap2
|
UTSW |
8 |
14,843,544 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8492:Dlgap2
|
UTSW |
8 |
14,778,271 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R8685:Dlgap2
|
UTSW |
8 |
14,831,628 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8690:Dlgap2
|
UTSW |
8 |
14,743,430 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8887:Dlgap2
|
UTSW |
8 |
14,179,682 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9328:Dlgap2
|
UTSW |
8 |
14,727,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9338:Dlgap2
|
UTSW |
8 |
14,179,683 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9465:Dlgap2
|
UTSW |
8 |
14,778,226 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9680:Dlgap2
|
UTSW |
8 |
14,846,653 (GRCm38) |
missense |
probably damaging |
0.98 |
|
X0060:Dlgap2
|
UTSW |
8 |
14,839,787 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1088:Dlgap2
|
UTSW |
8 |
14,822,472 (GRCm38) |
missense |
probably benign |
0.10 |
|
Z1177:Dlgap2
|
UTSW |
8 |
14,727,659 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGATGTGCGGCAGCCTTATCTC -3'
(R):5'- GATGTTGCTCTTGGACGATCCCTC -3'
Sequencing Primer
(F):5'- TGAGAGCTGCCCAATGGAC -3'
(R):5'- CCTCCAAAGAATGAGACTTGGTG -3'
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| Posted On |
2013-08-06 |
Incidental Mutation