Incidental Mutation 'R9480:Dlgap4'
| ID |
716161 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlgap4
|
| Ensembl Gene |
ENSMUSG00000061689 |
| Gene Name |
DLG associated protein 4 |
| Synonyms |
PSD-95/SAP90 binding protein 4, Sapap4, DAP4, WBP16, SAP90/PSD-95-associated protein 4 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
R9480 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
156455625-156606283 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 156546514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 394
(R394L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070782]
[ENSMUST00000109567]
[ENSMUST00000109568]
[ENSMUST00000169464]
|
| AlphaFold |
B1AZP2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070782
AA Change: R394L
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000068745
Gene: ENSMUSG00000061689
AA Change: R394L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
497 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
572 |
N/A |
INTRINSIC |
|
low complexity region
|
600 |
620 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
637 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
638 |
989 |
1.2e-132 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109567
AA Change: R394L
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105195
Gene: ENSMUSG00000061689
AA Change: R394L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
497 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
572 |
N/A |
INTRINSIC |
|
low complexity region
|
600 |
620 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
636 |
989 |
4.4e-116 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109568
AA Change: R394L
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105196
Gene: ENSMUSG00000061689
AA Change: R394L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
480 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
611 |
620 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
636 |
975 |
5.6e-126 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169464
AA Change: R394L
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000126980
Gene: ENSMUSG00000061689
AA Change: R394L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
497 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
572 |
N/A |
INTRINSIC |
|
low complexity region
|
600 |
620 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
637 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
660 |
992 |
1.5e-148 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. The encoded protein may play a role in synapse organization and neuronal signalling. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,211,889 (GRCm39) |
W142R |
probably damaging |
Het |
| Abcc6 |
A |
G |
7: 45,629,197 (GRCm39) |
S1350P |
probably damaging |
Het |
| Abraxas2 |
G |
T |
7: 132,473,323 (GRCm39) |
V84L |
probably benign |
Het |
| Adam12 |
T |
A |
7: 133,736,470 (GRCm39) |
I81F |
probably damaging |
Het |
| Adam22 |
A |
G |
5: 8,193,077 (GRCm39) |
V376A |
probably benign |
Het |
| Anapc11 |
T |
A |
11: 120,496,176 (GRCm39) |
I60N |
probably damaging |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Atrnl1 |
T |
A |
19: 57,690,420 (GRCm39) |
V876E |
possibly damaging |
Het |
| Bcar3 |
C |
T |
3: 122,277,618 (GRCm39) |
R21* |
probably null |
Het |
| Calb1 |
T |
A |
4: 15,885,608 (GRCm39) |
S60T |
probably benign |
Het |
| Ceacam9 |
A |
G |
7: 16,457,783 (GRCm39) |
T99A |
probably damaging |
Het |
| Cemip2 |
C |
A |
19: 21,775,622 (GRCm39) |
H288Q |
possibly damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,497,338 (GRCm39) |
D213G |
possibly damaging |
Het |
| Col23a1 |
T |
A |
11: 51,207,774 (GRCm39) |
C105S |
unknown |
Het |
| Cxcl2 |
T |
C |
5: 91,052,029 (GRCm39) |
V45A |
possibly damaging |
Het |
| Ddx21 |
T |
C |
10: 62,434,652 (GRCm39) |
T36A |
probably benign |
Het |
| Dus2 |
C |
T |
8: 106,757,052 (GRCm39) |
Q81* |
probably null |
Het |
| Fat3 |
T |
C |
9: 15,942,703 (GRCm39) |
D1223G |
probably damaging |
Het |
| Fgf3 |
G |
T |
7: 144,396,619 (GRCm39) |
R211L |
possibly damaging |
Het |
| Galnt17 |
T |
A |
5: 130,935,576 (GRCm39) |
E369V |
probably damaging |
Het |
| Gatad2a |
T |
C |
8: 70,388,459 (GRCm39) |
D76G |
probably damaging |
Het |
| Gin1 |
A |
G |
1: 97,705,198 (GRCm39) |
E96G |
probably damaging |
Het |
| Gpr55 |
A |
C |
1: 85,868,977 (GRCm39) |
Y201* |
probably null |
Het |
| Hgsnat |
T |
C |
8: 26,442,029 (GRCm39) |
N499D |
possibly damaging |
Het |
| Hipk2 |
G |
T |
6: 38,680,377 (GRCm39) |
P988T |
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,337,058 (GRCm39) |
Q2379L |
probably damaging |
Het |
| Kat14 |
T |
A |
2: 144,215,745 (GRCm39) |
C77S |
probably damaging |
Het |
| Klhl25 |
T |
C |
7: 75,516,120 (GRCm39) |
V342A |
probably damaging |
Het |
| Krt35 |
T |
C |
11: 99,986,609 (GRCm39) |
Q135R |
probably benign |
Het |
| Lhfpl2 |
T |
A |
13: 94,310,733 (GRCm39) |
M1K |
probably null |
Het |
| Lipk |
T |
A |
19: 33,999,101 (GRCm39) |
L132Q |
probably damaging |
Het |
| Lrrc39 |
T |
A |
3: 116,359,475 (GRCm39) |
C7S |
probably benign |
Het |
| Ltb4r2 |
T |
A |
14: 56,000,089 (GRCm39) |
W237R |
probably damaging |
Het |
| Mesp2 |
A |
G |
7: 79,461,034 (GRCm39) |
I120V |
probably damaging |
Het |
| Mfsd6 |
A |
G |
1: 52,699,835 (GRCm39) |
V771A |
unknown |
Het |
| Mtfmt |
A |
T |
9: 65,351,181 (GRCm39) |
T243S |
possibly damaging |
Het |
| Nlrp12 |
A |
T |
7: 3,288,993 (GRCm39) |
C506* |
probably null |
Het |
| Ntng2 |
T |
A |
2: 29,137,997 (GRCm39) |
Y19F |
probably damaging |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Orc4 |
T |
C |
2: 48,795,563 (GRCm39) |
T388A |
probably benign |
Het |
| P4hb |
A |
T |
11: 120,463,551 (GRCm39) |
V28D |
probably damaging |
Het |
| Phkb |
T |
G |
8: 86,684,216 (GRCm39) |
S424R |
probably benign |
Het |
| Poldip2 |
T |
C |
11: 78,411,988 (GRCm39) |
L308S |
probably damaging |
Het |
| Prkd1 |
T |
A |
12: 50,435,283 (GRCm39) |
E481D |
probably benign |
Het |
| Serping1 |
C |
T |
2: 84,600,487 (GRCm39) |
S285N |
probably benign |
Het |
| Sh2d2a |
A |
C |
3: 87,759,638 (GRCm39) |
I350L |
probably benign |
Het |
| Siglecf |
G |
T |
7: 43,001,666 (GRCm39) |
V159L |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,470,820 (GRCm39) |
N36S |
probably damaging |
Het |
| Sytl2 |
C |
T |
7: 90,020,718 (GRCm39) |
T147M |
possibly damaging |
Het |
| Tmc7 |
A |
G |
7: 118,141,226 (GRCm39) |
F635S |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,157,757 (GRCm39) |
L175F |
|
Het |
| Ttc39d |
A |
G |
17: 80,524,139 (GRCm39) |
H266R |
probably benign |
Het |
| Usp33 |
T |
G |
3: 152,079,086 (GRCm39) |
I446R |
possibly damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Zbtb49 |
T |
A |
5: 38,358,409 (GRCm39) |
T615S |
possibly damaging |
Het |
| Zbtb8a |
G |
T |
4: 129,253,875 (GRCm39) |
H206Q |
probably benign |
Het |
| Zfp180 |
A |
G |
7: 23,804,628 (GRCm39) |
N349S |
probably benign |
Het |
| Zfp345 |
A |
T |
2: 150,315,212 (GRCm39) |
C108* |
probably null |
Het |
| Zfp420 |
T |
A |
7: 29,575,497 (GRCm39) |
H572Q |
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,631,115 (GRCm39) |
|
probably null |
Het |
| Zfp820 |
T |
A |
17: 22,037,994 (GRCm39) |
T445S |
possibly damaging |
Het |
| Zim1 |
T |
C |
7: 6,681,050 (GRCm39) |
I204M |
probably benign |
Het |
| Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
probably benign |
Het |
|
| Other mutations in Dlgap4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02164:Dlgap4
|
APN |
2 |
156,553,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02732:Dlgap4
|
APN |
2 |
156,591,243 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02868:Dlgap4
|
APN |
2 |
156,542,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03169:Dlgap4
|
APN |
2 |
156,552,938 (GRCm39) |
splice site |
probably null |
|
|
IGL03220:Dlgap4
|
APN |
2 |
156,546,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
E0374:Dlgap4
|
UTSW |
2 |
156,603,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0413:Dlgap4
|
UTSW |
2 |
156,604,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0573:Dlgap4
|
UTSW |
2 |
156,588,111 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0645:Dlgap4
|
UTSW |
2 |
156,603,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0893:Dlgap4
|
UTSW |
2 |
156,587,898 (GRCm39) |
nonsense |
probably null |
|
|
R1472:Dlgap4
|
UTSW |
2 |
156,602,821 (GRCm39) |
nonsense |
probably null |
|
|
R1620:Dlgap4
|
UTSW |
2 |
156,591,056 (GRCm39) |
nonsense |
probably null |
|
|
R1636:Dlgap4
|
UTSW |
2 |
156,587,997 (GRCm39) |
nonsense |
probably null |
|
|
R2078:Dlgap4
|
UTSW |
2 |
156,604,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2173:Dlgap4
|
UTSW |
2 |
156,604,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2264:Dlgap4
|
UTSW |
2 |
156,543,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2348:Dlgap4
|
UTSW |
2 |
156,543,126 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3608:Dlgap4
|
UTSW |
2 |
156,590,332 (GRCm39) |
intron |
probably benign |
|
|
R3872:Dlgap4
|
UTSW |
2 |
156,591,267 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3873:Dlgap4
|
UTSW |
2 |
156,591,267 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3874:Dlgap4
|
UTSW |
2 |
156,591,267 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3897:Dlgap4
|
UTSW |
2 |
156,587,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Dlgap4
|
UTSW |
2 |
156,549,031 (GRCm39) |
missense |
probably benign |
|
|
R5286:Dlgap4
|
UTSW |
2 |
156,587,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5302:Dlgap4
|
UTSW |
2 |
156,602,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5568:Dlgap4
|
UTSW |
2 |
156,604,821 (GRCm39) |
makesense |
probably null |
|
|
R5691:Dlgap4
|
UTSW |
2 |
156,546,390 (GRCm39) |
missense |
probably benign |
|
|
R5741:Dlgap4
|
UTSW |
2 |
156,552,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5917:Dlgap4
|
UTSW |
2 |
156,546,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6140:Dlgap4
|
UTSW |
2 |
156,604,649 (GRCm39) |
splice site |
probably null |
|
|
R6992:Dlgap4
|
UTSW |
2 |
156,590,860 (GRCm39) |
splice site |
probably null |
|
|
R7082:Dlgap4
|
UTSW |
2 |
156,590,342 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7566:Dlgap4
|
UTSW |
2 |
156,604,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7698:Dlgap4
|
UTSW |
2 |
156,591,015 (GRCm39) |
nonsense |
probably null |
|
|
R7767:Dlgap4
|
UTSW |
2 |
156,587,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7853:Dlgap4
|
UTSW |
2 |
156,547,802 (GRCm39) |
missense |
probably benign |
|
|
R7944:Dlgap4
|
UTSW |
2 |
156,591,054 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8366:Dlgap4
|
UTSW |
2 |
156,542,694 (GRCm39) |
nonsense |
probably null |
|
|
R8835:Dlgap4
|
UTSW |
2 |
156,587,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9136:Dlgap4
|
UTSW |
2 |
156,588,075 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9288:Dlgap4
|
UTSW |
2 |
156,546,514 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9289:Dlgap4
|
UTSW |
2 |
156,546,514 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9296:Dlgap4
|
UTSW |
2 |
156,546,514 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9319:Dlgap4
|
UTSW |
2 |
156,546,514 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9522:Dlgap4
|
UTSW |
2 |
156,546,514 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCGGATATTCCAGGTGCCC -3'
(R):5'- ACCTTCCTCGGGTGGAAATAC -3'
Sequencing Primer
(F):5'- CCTCGAGACATGGATAGC -3'
(R):5'- CCTCGGGTGGAAATACTGTCAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation