Incidental Mutation 'R4760:Dlgap2'
| ID |
386474 |
| 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 |
041974-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4760 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
14145865-14897680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 14823380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 533
(Q533P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043279]
[ENSMUST00000133298]
[ENSMUST00000150247]
[ENSMUST00000152652]
|
| AlphaFold |
Q8BJ42 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043279
AA Change: Q533P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: Q533P
| 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: Q533P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: Q533P
| 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 damaging
Transcript: ENSMUST00000150247
AA Change: Q533P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: Q533P
| 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: Q534P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: Q534P
| 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 |
0.2412 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
98% (90/92) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530053G22Rik |
A |
G |
6: 60,379,086 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc2 |
A |
T |
19: 43,798,920 (GRCm39) |
Y512F |
probably benign |
Het |
| Adgrb1 |
T |
A |
15: 74,443,312 (GRCm39) |
I51N |
probably damaging |
Het |
| Adhfe1 |
A |
G |
1: 9,633,748 (GRCm39) |
Y332C |
probably damaging |
Het |
| Ambn |
C |
T |
5: 88,615,566 (GRCm39) |
L317F |
probably damaging |
Het |
| Amn1 |
T |
C |
6: 149,086,611 (GRCm39) |
Y17C |
probably benign |
Het |
| Apoa5 |
T |
C |
9: 46,181,593 (GRCm39) |
V223A |
probably damaging |
Het |
| Best3 |
A |
T |
10: 116,860,699 (GRCm39) |
H653L |
probably benign |
Het |
| Btnl2 |
C |
A |
17: 34,582,169 (GRCm39) |
S245Y |
probably damaging |
Het |
| Camk1d |
A |
G |
2: 5,366,867 (GRCm39) |
L116P |
probably damaging |
Het |
| Catsperg2 |
T |
A |
7: 29,405,060 (GRCm39) |
D698V |
probably damaging |
Het |
| Cd33 |
T |
C |
7: 43,178,919 (GRCm39) |
T307A |
probably benign |
Het |
| Cdk8 |
C |
T |
5: 146,229,476 (GRCm39) |
S230L |
probably benign |
Het |
| Cfap69 |
C |
T |
5: 5,696,939 (GRCm39) |
C119Y |
probably damaging |
Het |
| Chat |
T |
C |
14: 32,175,694 (GRCm39) |
N122S |
probably benign |
Het |
| Col20a1 |
A |
T |
2: 180,626,196 (GRCm39) |
|
probably benign |
Het |
| Cyp2j9 |
A |
T |
4: 96,457,028 (GRCm39) |
L481Q |
probably damaging |
Het |
| Dab1 |
A |
C |
4: 104,589,342 (GRCm39) |
S550R |
probably damaging |
Het |
| Eif4g3 |
A |
T |
4: 137,811,629 (GRCm39) |
Q31L |
possibly damaging |
Het |
| Ets2 |
G |
A |
16: 95,520,087 (GRCm39) |
V438M |
probably damaging |
Het |
| Eva1c |
G |
A |
16: 90,701,138 (GRCm39) |
D258N |
probably benign |
Het |
| Fastkd2 |
A |
G |
1: 63,785,045 (GRCm39) |
H477R |
probably benign |
Het |
| Fga |
T |
G |
3: 82,938,821 (GRCm39) |
S399A |
probably benign |
Het |
| Fmo4 |
T |
A |
1: 162,637,396 (GRCm39) |
E32V |
probably damaging |
Het |
| Gm7204 |
T |
A |
16: 48,039,051 (GRCm39) |
|
noncoding transcript |
Het |
| Gpi-ps |
G |
A |
8: 5,690,473 (GRCm39) |
|
noncoding transcript |
Het |
| Hhipl1 |
A |
G |
12: 108,286,336 (GRCm39) |
I548V |
probably damaging |
Het |
| Hsfy2 |
T |
C |
1: 56,676,349 (GRCm39) |
T63A |
probably benign |
Het |
| Igf2r |
A |
G |
17: 12,922,352 (GRCm39) |
V1254A |
possibly damaging |
Het |
| Ighv8-4 |
A |
T |
12: 114,987,667 (GRCm39) |
D110E |
probably damaging |
Het |
| Igkv14-130 |
T |
C |
6: 67,768,446 (GRCm39) |
S101P |
probably benign |
Het |
| Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
| Ipo5 |
T |
C |
14: 121,179,054 (GRCm39) |
V779A |
probably benign |
Het |
| Itpr1 |
C |
T |
6: 108,326,593 (GRCm39) |
T105I |
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,018,857 (GRCm39) |
M670V |
probably damaging |
Het |
| Kdm8 |
T |
A |
7: 125,054,431 (GRCm39) |
|
probably null |
Het |
| Kics2 |
T |
C |
10: 121,575,912 (GRCm39) |
V11A |
probably damaging |
Het |
| L3hypdh |
T |
C |
12: 72,124,016 (GRCm39) |
I281V |
probably benign |
Het |
| Lins1 |
T |
G |
7: 66,364,435 (GRCm39) |
|
probably benign |
Het |
| Map4k5 |
T |
A |
12: 69,871,372 (GRCm39) |
I517L |
possibly damaging |
Het |
| Marchf2 |
G |
T |
17: 33,928,890 (GRCm39) |
T2K |
probably damaging |
Het |
| Mlkl |
C |
G |
8: 112,046,348 (GRCm39) |
|
probably null |
Het |
| Mllt1 |
A |
G |
17: 57,209,630 (GRCm39) |
M160T |
probably benign |
Het |
| Mmp15 |
G |
A |
8: 96,094,824 (GRCm39) |
A233T |
possibly damaging |
Het |
| Moxd2 |
C |
A |
6: 40,868,537 (GRCm39) |
T23N |
probably benign |
Het |
| Nop53 |
C |
A |
7: 15,676,812 (GRCm39) |
K100N |
probably benign |
Het |
| Nrg1 |
C |
A |
8: 32,408,228 (GRCm39) |
E2* |
probably null |
Het |
| Or52u1 |
T |
A |
7: 104,237,696 (GRCm39) |
H228Q |
probably benign |
Het |
| Pank4 |
A |
G |
4: 155,059,091 (GRCm39) |
D408G |
possibly damaging |
Het |
| Pcdhb10 |
T |
C |
18: 37,544,995 (GRCm39) |
W24R |
probably benign |
Het |
| Pcm1 |
C |
T |
8: 41,740,775 (GRCm39) |
T968I |
probably damaging |
Het |
| Pkib |
G |
T |
10: 57,584,246 (GRCm39) |
M19I |
probably benign |
Het |
| Ppy |
A |
G |
11: 101,991,345 (GRCm39) |
|
probably null |
Het |
| Pramel21 |
G |
A |
4: 143,343,801 (GRCm39) |
R367K |
probably benign |
Het |
| Prdx3 |
A |
C |
19: 60,861,621 (GRCm39) |
C39W |
possibly damaging |
Het |
| Qrfpr |
T |
G |
3: 36,276,073 (GRCm39) |
N106H |
probably benign |
Het |
| Rai14 |
G |
A |
15: 10,575,776 (GRCm39) |
T394M |
possibly damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,188,669 (GRCm39) |
L1371Q |
probably benign |
Het |
| Rbm12 |
A |
G |
2: 155,939,048 (GRCm39) |
L408P |
probably damaging |
Het |
| Rdx |
T |
C |
9: 51,977,174 (GRCm39) |
I141T |
probably benign |
Het |
| Reep1 |
T |
A |
6: 71,684,985 (GRCm39) |
V11E |
possibly damaging |
Het |
| Relch |
T |
A |
1: 105,649,030 (GRCm39) |
M723K |
probably benign |
Het |
| Sall4 |
A |
G |
2: 168,592,347 (GRCm39) |
S936P |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,102,065 (GRCm39) |
M403T |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc35g2 |
T |
G |
9: 100,435,549 (GRCm39) |
I41L |
probably benign |
Het |
| Slc39a12 |
G |
A |
2: 14,405,134 (GRCm39) |
S242N |
probably benign |
Het |
| Slc9a2 |
T |
A |
1: 40,801,076 (GRCm39) |
D535E |
probably damaging |
Het |
| Spata31d1a |
G |
T |
13: 59,849,459 (GRCm39) |
P890T |
probably damaging |
Het |
| Sync |
A |
G |
4: 129,187,232 (GRCm39) |
Q88R |
probably benign |
Het |
| Tdrp |
A |
G |
8: 14,024,527 (GRCm39) |
|
probably benign |
Het |
| Tg |
G |
T |
15: 66,565,168 (GRCm39) |
C1170F |
probably damaging |
Het |
| Tnks |
A |
T |
8: 35,318,937 (GRCm39) |
D781E |
probably benign |
Het |
| Tnp2 |
T |
A |
16: 10,606,207 (GRCm39) |
T87S |
possibly damaging |
Het |
| Tpp2 |
T |
C |
1: 44,010,875 (GRCm39) |
V554A |
probably benign |
Het |
| Traf3ip2 |
T |
C |
10: 39,521,735 (GRCm39) |
I431T |
probably damaging |
Het |
| Trav9d-4 |
A |
T |
14: 53,221,258 (GRCm39) |
H84L |
probably damaging |
Het |
| Vmn2r42 |
T |
A |
7: 8,187,276 (GRCm39) |
Y782F |
probably damaging |
Het |
| Vwf |
T |
C |
6: 125,547,567 (GRCm39) |
S231P |
probably damaging |
Het |
| Wdr83os |
A |
G |
8: 85,808,496 (GRCm39) |
S83G |
probably damaging |
Het |
| Wdr91 |
T |
A |
6: 34,885,234 (GRCm39) |
Q109L |
probably damaging |
Het |
| Znrf4 |
A |
G |
17: 56,818,864 (GRCm39) |
C148R |
possibly 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 |
|
|
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'- GGATGCTCACAGACCACATTTC -3'
(R):5'- GACAATCACTAGGCCTTGGC -3'
Sequencing Primer
(F):5'- ACAGACCACATTTCTCTCTTCTCTG -3'
(R):5'- CAGCCTAAGCCGATGAGGTTTTG -3'
|
| Posted On |
2016-06-03 |
Incidental Mutation