Incidental Mutation 'R6125:Dlgap2'
ID |
487341 |
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 |
044272-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6125 (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 T
at 14777193 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 146
(H146L)
|
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: H145L
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000039647 Gene: ENSMUSG00000047495 AA Change: H145L
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: H145L
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000119613 Gene: ENSMUSG00000047495 AA Change: H145L
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 benign
Transcript: ENSMUST00000150247
AA Change: H145L
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000123104 Gene: ENSMUSG00000047495 AA Change: H145L
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: H146L
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000123078 Gene: ENSMUSG00000047495 AA Change: H146L
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 |
0.1041 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.5%
|
Validation Efficiency |
97% (65/67) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef11 |
T |
C |
3: 87,636,909 (GRCm39) |
F1023S |
probably damaging |
Het |
Atp1a1 |
G |
A |
3: 101,498,023 (GRCm39) |
R255C |
probably damaging |
Het |
Bbs12 |
A |
G |
3: 37,374,700 (GRCm39) |
I383V |
probably benign |
Het |
Cacna1h |
G |
A |
17: 25,604,668 (GRCm39) |
P1215L |
probably benign |
Het |
Calm5 |
A |
T |
13: 3,904,491 (GRCm39) |
K62* |
probably null |
Het |
Chd8 |
T |
A |
14: 52,444,491 (GRCm39) |
H398L |
probably benign |
Het |
Cspg4b |
A |
G |
13: 113,454,217 (GRCm39) |
T88A |
probably benign |
Het |
Dop1a |
G |
A |
9: 86,403,186 (GRCm39) |
R1462H |
probably damaging |
Het |
Dusp29 |
C |
A |
14: 21,736,758 (GRCm39) |
V115L |
probably benign |
Het |
Dync2h1 |
T |
C |
9: 7,168,706 (GRCm39) |
N369S |
probably damaging |
Het |
Fer1l4 |
A |
C |
2: 155,888,907 (GRCm39) |
V422G |
probably damaging |
Het |
Fstl4 |
T |
C |
11: 53,077,130 (GRCm39) |
M629T |
probably benign |
Het |
Galnt18 |
A |
G |
7: 111,084,400 (GRCm39) |
Y507H |
probably damaging |
Het |
Gar1 |
C |
A |
3: 129,624,399 (GRCm39) |
|
probably benign |
Het |
Gm19402 |
T |
C |
10: 77,526,507 (GRCm39) |
T29A |
probably damaging |
Het |
Gm826 |
A |
G |
2: 160,169,034 (GRCm39) |
F92L |
unknown |
Het |
H1f0 |
T |
A |
15: 78,913,070 (GRCm39) |
I50N |
probably damaging |
Het |
H2-DMb1 |
A |
G |
17: 34,376,439 (GRCm39) |
Y186C |
probably damaging |
Het |
Hgf |
A |
G |
5: 16,803,159 (GRCm39) |
N357S |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hsf2 |
T |
C |
10: 57,388,101 (GRCm39) |
V415A |
probably benign |
Het |
Ins2 |
C |
A |
7: 142,233,430 (GRCm39) |
|
probably null |
Het |
Kel |
A |
T |
6: 41,667,720 (GRCm39) |
F89L |
probably damaging |
Het |
Lratd2 |
T |
C |
15: 60,695,146 (GRCm39) |
N200S |
probably damaging |
Het |
Lrrc37a |
T |
C |
11: 103,392,386 (GRCm39) |
D1013G |
probably benign |
Het |
Ltbp4 |
C |
A |
7: 27,027,180 (GRCm39) |
G397C |
probably damaging |
Het |
Madd |
A |
G |
2: 90,982,797 (GRCm39) |
|
probably null |
Het |
Map4k4 |
A |
G |
1: 40,043,125 (GRCm39) |
D660G |
possibly damaging |
Het |
Mdm4 |
G |
A |
1: 132,922,248 (GRCm39) |
T298I |
possibly damaging |
Het |
Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
Mpdz |
A |
T |
4: 81,215,764 (GRCm39) |
C1487S |
probably benign |
Het |
Mtus1 |
A |
G |
8: 41,537,576 (GRCm39) |
S47P |
probably damaging |
Het |
Nek1 |
T |
C |
8: 61,481,735 (GRCm39) |
S217P |
probably damaging |
Het |
Or10ag59 |
T |
C |
2: 87,405,590 (GRCm39) |
I54T |
probably benign |
Het |
Or5b123 |
C |
T |
19: 13,597,249 (GRCm39) |
A241V |
probably benign |
Het |
Pcdhb10 |
T |
C |
18: 37,546,679 (GRCm39) |
V585A |
possibly damaging |
Het |
Perm1 |
A |
G |
4: 156,302,176 (GRCm39) |
E240G |
probably benign |
Het |
Pkdrej |
T |
C |
15: 85,700,585 (GRCm39) |
T1784A |
probably damaging |
Het |
Pnpla8 |
C |
T |
12: 44,354,772 (GRCm39) |
T644M |
possibly damaging |
Het |
Rgs2 |
T |
C |
1: 143,879,763 (GRCm39) |
K32E |
probably damaging |
Het |
Scyl3 |
A |
T |
1: 163,778,145 (GRCm39) |
M428L |
probably benign |
Het |
Slc30a8 |
A |
G |
15: 52,198,530 (GRCm39) |
D325G |
probably benign |
Het |
Slc5a9 |
G |
T |
4: 111,741,002 (GRCm39) |
T548K |
probably damaging |
Het |
Slc9b2 |
G |
A |
3: 135,036,457 (GRCm39) |
|
probably null |
Het |
Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
Slit3 |
T |
C |
11: 35,461,560 (GRCm39) |
|
probably null |
Het |
Stk39 |
C |
A |
2: 68,222,468 (GRCm39) |
G199C |
probably damaging |
Het |
Tbx1 |
A |
G |
16: 18,402,216 (GRCm39) |
F263L |
probably damaging |
Het |
Tcf21 |
G |
T |
10: 22,695,665 (GRCm39) |
N46K |
probably benign |
Het |
Tdrd9 |
T |
A |
12: 112,034,632 (GRCm39) |
M1357K |
possibly damaging |
Het |
Tll1 |
A |
G |
8: 64,504,521 (GRCm39) |
L625P |
probably damaging |
Het |
Tmem131 |
G |
A |
1: 36,847,387 (GRCm39) |
S1237L |
possibly damaging |
Het |
Trdv5 |
T |
C |
14: 54,386,298 (GRCm39) |
K56E |
possibly damaging |
Het |
Triml2 |
G |
A |
8: 43,640,659 (GRCm39) |
V172I |
probably benign |
Het |
Trmt44 |
C |
A |
5: 35,722,842 (GRCm39) |
D409Y |
probably damaging |
Het |
Ube2o |
C |
T |
11: 116,432,204 (GRCm39) |
A921T |
probably damaging |
Het |
Ube2o |
T |
C |
11: 116,435,576 (GRCm39) |
D404G |
possibly damaging |
Het |
Ube4b |
T |
C |
4: 149,483,203 (GRCm39) |
T22A |
probably benign |
Het |
Ugp2 |
A |
T |
11: 21,279,815 (GRCm39) |
F327L |
probably damaging |
Het |
Virma |
T |
C |
4: 11,521,172 (GRCm39) |
S910P |
probably damaging |
Het |
Vmn2r9 |
A |
G |
5: 108,990,836 (GRCm39) |
Y842H |
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,463,871 (GRCm39) |
D1368G |
possibly damaging |
Het |
Zfp980 |
T |
A |
4: 145,429,208 (GRCm39) |
*646R |
probably null |
Het |
Zranb3 |
T |
A |
1: 127,887,482 (GRCm39) |
N982Y |
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 |
|
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'- AACGCAGCACTTCAATGAAGAG -3'
(R):5'- GGGAGCTGTTTCTCAAACTGG -3'
Sequencing Primer
(F):5'- CAGCACTTCAATGAAGAGAGGTAC -3'
(R):5'- CTCAAACTGGTCTAAGAGGTTGGC -3'
|
Posted On |
2017-10-10 |