Incidental Mutation 'R0647:Dlgap2'
| ID |
57265 |
| 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 |
038832-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0647 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
14145865-14897680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14777591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 279
(S279C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043279]
[ENSMUST00000133298]
[ENSMUST00000150247]
[ENSMUST00000152652]
|
| AlphaFold |
Q8BJ42 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043279
AA Change: S278C
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: S278C
| 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: ENSMUST00000133298
AA Change: S278C
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: S278C
| 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 |
possibly damaging
Transcript: ENSMUST00000150247
AA Change: S278C
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: S278C
| 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 |
possibly damaging
Transcript: ENSMUST00000152652
AA Change: S279C
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: S279C
| 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: 97.3%
- 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
C |
A |
11: 50,494,265 (GRCm39) |
T113K |
probably damaging |
Het |
| Adgre1 |
T |
A |
17: 57,718,003 (GRCm39) |
N338K |
probably damaging |
Het |
| Aggf1 |
A |
T |
13: 95,508,164 (GRCm39) |
|
probably null |
Het |
| Apc2 |
A |
T |
10: 80,140,762 (GRCm39) |
I206F |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,739,892 (GRCm39) |
|
probably null |
Het |
| Ccdc110 |
A |
C |
8: 46,396,425 (GRCm39) |
E772A |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,143,681 (GRCm39) |
F2977L |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,159,153 (GRCm39) |
Y2207* |
probably null |
Het |
| Cfap20dc |
T |
A |
14: 8,536,655 (GRCm38) |
D184V |
possibly damaging |
Het |
| Chd4 |
T |
A |
6: 125,086,086 (GRCm39) |
N908K |
probably damaging |
Het |
| Chst9 |
A |
G |
18: 15,585,726 (GRCm39) |
I279T |
probably damaging |
Het |
| Ctnna3 |
A |
T |
10: 63,656,203 (GRCm39) |
N261I |
probably benign |
Het |
| Dock4 |
G |
A |
12: 40,760,883 (GRCm39) |
E524K |
probably damaging |
Het |
| Fabp12 |
T |
A |
3: 10,311,096 (GRCm39) |
N122I |
possibly damaging |
Het |
| Fam184b |
T |
C |
5: 45,741,932 (GRCm39) |
T100A |
probably benign |
Het |
| Fbxl5 |
T |
C |
5: 43,925,411 (GRCm39) |
D176G |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Foxe1 |
A |
G |
4: 46,344,477 (GRCm39) |
N95S |
possibly damaging |
Het |
| Frem3 |
A |
G |
8: 81,341,814 (GRCm39) |
E1369G |
probably damaging |
Het |
| Frmpd4 |
C |
T |
X: 166,272,006 (GRCm39) |
E483K |
probably damaging |
Het |
| Gbp11 |
T |
C |
5: 105,478,830 (GRCm39) |
K203E |
possibly damaging |
Het |
| Hs3st6 |
C |
T |
17: 24,977,134 (GRCm39) |
R205C |
probably damaging |
Het |
| Ifitm10 |
C |
T |
7: 141,909,772 (GRCm39) |
S179N |
probably damaging |
Het |
| Irx2 |
A |
C |
13: 72,778,799 (GRCm39) |
N121T |
probably damaging |
Het |
| Itih1 |
A |
T |
14: 30,657,820 (GRCm39) |
V417E |
probably damaging |
Het |
| Itpr1 |
A |
C |
6: 108,360,659 (GRCm39) |
E695A |
probably damaging |
Het |
| Kif1c |
T |
A |
11: 70,616,967 (GRCm39) |
I755K |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,013,104 (GRCm39) |
E443G |
probably damaging |
Het |
| Lrp1 |
G |
C |
10: 127,407,346 (GRCm39) |
T1865R |
probably damaging |
Het |
| Lrrc8b |
T |
A |
5: 105,628,473 (GRCm39) |
I273K |
possibly damaging |
Het |
| Ly9 |
T |
C |
1: 171,427,376 (GRCm39) |
Y393C |
probably damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,911,862 (GRCm39) |
V295A |
probably benign |
Het |
| Nlrp5 |
T |
A |
7: 23,117,132 (GRCm39) |
D269E |
probably damaging |
Het |
| Or1r1 |
G |
A |
11: 73,874,597 (GRCm39) |
A279V |
probably damaging |
Het |
| Or2t6 |
T |
G |
14: 14,175,858 (GRCm38) |
T75P |
probably benign |
Het |
| Or4k44 |
A |
G |
2: 111,367,704 (GRCm39) |
V310A |
probably benign |
Het |
| Or52u1 |
T |
G |
7: 104,237,322 (GRCm39) |
F104V |
probably damaging |
Het |
| Or5p50 |
T |
A |
7: 107,422,218 (GRCm39) |
I153F |
probably benign |
Het |
| Otud3 |
A |
G |
4: 138,640,948 (GRCm39) |
L64P |
probably damaging |
Het |
| Pcdh17 |
A |
T |
14: 84,685,213 (GRCm39) |
H560L |
possibly damaging |
Het |
| Pcdhb21 |
T |
C |
18: 37,646,913 (GRCm39) |
V14A |
probably damaging |
Het |
| Prss3l |
A |
T |
6: 41,420,275 (GRCm39) |
F150L |
probably benign |
Het |
| Rbfox1 |
A |
T |
16: 7,042,248 (GRCm39) |
Q14L |
probably damaging |
Het |
| Rbm44 |
A |
G |
1: 91,084,650 (GRCm39) |
D665G |
probably benign |
Het |
| Rc3h2 |
C |
T |
2: 37,299,542 (GRCm39) |
V163M |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,605,316 (GRCm39) |
R1025W |
probably damaging |
Het |
| Sgpl1 |
A |
G |
10: 60,949,267 (GRCm39) |
S146P |
probably damaging |
Het |
| Slc27a2 |
G |
A |
2: 126,429,836 (GRCm39) |
D615N |
probably benign |
Het |
| Smap1 |
A |
G |
1: 23,892,559 (GRCm39) |
I135T |
probably damaging |
Het |
| Snapc3 |
A |
G |
4: 83,368,466 (GRCm39) |
D321G |
probably damaging |
Het |
| St6galnac4 |
C |
T |
2: 32,479,460 (GRCm39) |
R6C |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 75,934,977 (GRCm39) |
P153L |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,050,092 (GRCm39) |
|
probably null |
Het |
| Tmem94 |
A |
G |
11: 115,687,621 (GRCm39) |
N1160S |
probably damaging |
Het |
| Trim65 |
G |
A |
11: 116,019,036 (GRCm39) |
R168C |
possibly damaging |
Het |
| Txndc16 |
A |
T |
14: 45,406,732 (GRCm39) |
I241N |
probably damaging |
Het |
| Txndc16 |
T |
A |
14: 45,402,818 (GRCm39) |
R101* |
probably null |
Het |
| Ugt2b38 |
A |
G |
5: 87,571,328 (GRCm39) |
S235P |
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,310,635 (GRCm39) |
M306L |
probably benign |
Het |
| Vmn1r23 |
T |
A |
6: 57,903,169 (GRCm39) |
Y203F |
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,183,046 (GRCm39) |
I218F |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,831,656 (GRCm39) |
C857R |
possibly damaging |
Het |
| Zfp493 |
A |
C |
13: 67,931,994 (GRCm39) |
K31T |
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 |
|
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 |
|
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'- GACCAGTTTGAGAAACAGCTCCCC -3'
(R):5'- TGGAAGTCTTTAGTGAGAGGTCCCC -3'
Sequencing Primer
(F):5'- GGATGGTTTCCACACACTGC -3'
(R):5'- CTTTAGTGAGAGGTCCCCAAATG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation