Incidental Mutation 'R9319:Dlgap4'
| ID |
706020 |
| 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 # |
R9319 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (48/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,922,446 (GRCm39) |
D811G |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,258,836 (GRCm39) |
T487A |
probably benign |
Het |
| Ankrd6 |
C |
T |
4: 32,806,324 (GRCm39) |
S643N |
probably benign |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Camk2b |
G |
T |
11: 5,927,814 (GRCm39) |
P489Q |
probably benign |
Het |
| Cd22 |
T |
A |
7: 30,569,329 (GRCm39) |
N596Y |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Cobl |
A |
T |
11: 12,203,648 (GRCm39) |
V1018E |
probably benign |
Het |
| Cttn |
T |
C |
7: 144,017,100 (GRCm39) |
E34G |
probably damaging |
Het |
| Dhx15 |
G |
A |
5: 52,342,193 (GRCm39) |
R42* |
probably null |
Het |
| Dlst |
G |
T |
12: 85,170,585 (GRCm39) |
R238L |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,521,168 (GRCm39) |
E232G |
possibly damaging |
Het |
| Dsg1b |
C |
T |
18: 20,531,004 (GRCm39) |
Q452* |
probably null |
Het |
| Elovl3 |
A |
G |
19: 46,122,507 (GRCm39) |
T102A |
possibly damaging |
Het |
| Epas1 |
A |
G |
17: 87,104,545 (GRCm39) |
S10G |
possibly damaging |
Het |
| Fads2b |
G |
A |
2: 85,320,757 (GRCm39) |
R349C |
probably damaging |
Het |
| Fanca |
T |
C |
8: 124,018,190 (GRCm39) |
I613V |
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,406,060 (GRCm39) |
V937D |
probably damaging |
Het |
| Glipr1l1 |
G |
T |
10: 111,898,122 (GRCm39) |
A76S |
probably damaging |
Het |
| Ino80 |
T |
C |
2: 119,205,005 (GRCm39) |
D1507G |
probably benign |
Het |
| Ipo13 |
T |
C |
4: 117,769,585 (GRCm39) |
D69G |
probably benign |
Het |
| Kif2c |
T |
C |
4: 117,035,445 (GRCm39) |
|
probably null |
Het |
| Lrrc61 |
C |
A |
6: 48,545,228 (GRCm39) |
T17K |
probably damaging |
Het |
| Ltk |
C |
A |
2: 119,590,096 (GRCm39) |
E43D |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,318,638 (GRCm39) |
T720A |
probably damaging |
Het |
| Mcoln2 |
T |
A |
3: 145,875,691 (GRCm39) |
V81D |
probably damaging |
Het |
| Mturn |
T |
A |
6: 54,658,780 (GRCm39) |
V9D |
probably benign |
Het |
| Nrg1 |
T |
C |
8: 32,323,204 (GRCm39) |
D249G |
probably benign |
Het |
| Ntng2 |
T |
C |
2: 29,091,121 (GRCm39) |
|
probably benign |
Het |
| Odad3 |
T |
C |
9: 21,906,203 (GRCm39) |
D245G |
probably damaging |
Het |
| Pax3 |
T |
A |
1: 78,080,079 (GRCm39) |
M436L |
probably benign |
Het |
| Pias4 |
G |
A |
10: 80,991,750 (GRCm39) |
P53S |
unknown |
Het |
| Pkhd1l1 |
C |
T |
15: 44,392,974 (GRCm39) |
R1770C |
possibly damaging |
Het |
| Plk1 |
C |
A |
7: 121,768,122 (GRCm39) |
D447E |
probably damaging |
Het |
| Rsph10b |
A |
C |
5: 143,903,337 (GRCm39) |
M611L |
probably benign |
Het |
| Scart1 |
C |
T |
7: 139,807,940 (GRCm39) |
P704S |
possibly damaging |
Het |
| Snrnp40 |
T |
C |
4: 130,256,545 (GRCm39) |
L90P |
possibly damaging |
Het |
| Snu13 |
T |
C |
15: 81,928,218 (GRCm39) |
T2A |
probably benign |
Het |
| Sptlc3 |
C |
T |
2: 139,478,730 (GRCm39) |
A563V |
possibly damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Tmx3 |
A |
G |
18: 90,558,068 (GRCm39) |
I373M |
probably benign |
Het |
| Tpbg |
C |
T |
9: 85,725,991 (GRCm39) |
|
probably benign |
Het |
| Troap |
T |
C |
15: 98,975,444 (GRCm39) |
I176T |
probably benign |
Het |
| Trpm2 |
G |
A |
10: 77,778,776 (GRCm39) |
Q397* |
probably null |
Het |
| Trpm2 |
A |
T |
10: 77,785,032 (GRCm39) |
V196E |
probably damaging |
Het |
| Vac14 |
T |
A |
8: 111,361,018 (GRCm39) |
I196N |
probably damaging |
Het |
| Vmn2r71 |
C |
T |
7: 85,273,694 (GRCm39) |
P836L |
probably damaging |
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 |
|
R9480: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'- TCTTCGGATATTCCAGGTGCC -3'
(R):5'- CCTTCCTCGGGTGGAAATACTG -3'
Sequencing Primer
(F):5'- ATATTCCAGGTGCCCGGCG -3'
(R):5'- TGTCAGGACAGGCTCCCATTAAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation