Incidental Mutation 'R9296:Dlgap4'
ID |
704590 |
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: 0.190)
|
Stock # |
R9296 (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: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
98% (56/57) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Antxr1 |
T |
G |
6: 87,114,409 (GRCm39) |
|
probably benign |
Het |
Aox1 |
A |
T |
1: 58,124,612 (GRCm39) |
Y951F |
probably damaging |
Het |
Arhgap44 |
G |
T |
11: 64,957,933 (GRCm39) |
A83E |
probably damaging |
Het |
Bmpr2 |
T |
C |
1: 59,906,502 (GRCm39) |
S532P |
probably damaging |
Het |
Brd7 |
T |
C |
8: 89,059,560 (GRCm39) |
I617V |
possibly damaging |
Het |
Brsk2 |
A |
C |
7: 141,552,375 (GRCm39) |
S620R |
probably benign |
Het |
C3 |
T |
C |
17: 57,511,291 (GRCm39) |
M1604V |
probably benign |
Het |
Cacna2d1 |
G |
A |
5: 16,564,068 (GRCm39) |
R917H |
probably damaging |
Het |
Ccdc17 |
T |
A |
4: 116,456,586 (GRCm39) |
F452I |
probably damaging |
Het |
Cfap221 |
T |
C |
1: 119,883,467 (GRCm39) |
I235V |
probably null |
Het |
Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
Ciita |
G |
A |
16: 10,321,812 (GRCm39) |
|
probably null |
Het |
Cxcl10 |
T |
C |
5: 92,495,997 (GRCm39) |
K47E |
probably damaging |
Het |
Cyp2d12 |
C |
T |
15: 82,440,435 (GRCm39) |
Q75* |
probably null |
Het |
Cyp4f18 |
C |
T |
8: 72,756,301 (GRCm39) |
V92M |
probably benign |
Het |
D930020B18Rik |
A |
G |
10: 121,497,011 (GRCm39) |
R149G |
possibly damaging |
Het |
Dmtf1 |
A |
C |
5: 9,190,467 (GRCm39) |
D82E |
probably benign |
Het |
Dnah1 |
T |
C |
14: 30,996,011 (GRCm39) |
|
probably null |
Het |
Eps15 |
T |
G |
4: 109,173,089 (GRCm39) |
D183E |
possibly damaging |
Het |
Fbln5 |
A |
T |
12: 101,780,853 (GRCm39) |
I7K |
probably benign |
Het |
Fermt3 |
C |
T |
19: 6,980,865 (GRCm39) |
E289K |
possibly damaging |
Het |
Gm10762 |
T |
A |
2: 128,809,149 (GRCm39) |
R67W |
unknown |
Het |
Gm5089 |
A |
G |
14: 122,673,554 (GRCm39) |
S56P |
unknown |
Het |
H2-T5 |
C |
T |
17: 36,479,169 (GRCm39) |
G27R |
unknown |
Het |
Itih1 |
A |
G |
14: 30,653,251 (GRCm39) |
F730L |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,400,246 (GRCm39) |
H683R |
probably damaging |
Het |
Mapk3 |
T |
A |
7: 126,363,518 (GRCm39) |
F297L |
|
Het |
Mfap3l |
G |
A |
8: 61,124,615 (GRCm39) |
V286I |
possibly damaging |
Het |
Myh4 |
A |
G |
11: 67,146,130 (GRCm39) |
K1396R |
possibly damaging |
Het |
Mylk3 |
A |
T |
8: 86,085,561 (GRCm39) |
S324R |
probably benign |
Het |
Ndufv3 |
T |
C |
17: 31,739,197 (GRCm39) |
S4P |
probably benign |
Het |
Nebl |
A |
T |
2: 17,429,451 (GRCm39) |
|
probably benign |
Het |
Nol4 |
A |
T |
18: 22,956,388 (GRCm39) |
S119T |
|
Het |
Or6k4 |
A |
T |
1: 173,964,835 (GRCm39) |
H175L |
probably benign |
Het |
Pcdhgb4 |
T |
A |
18: 37,853,777 (GRCm39) |
S57R |
probably benign |
Het |
Pcyox1 |
A |
G |
6: 86,368,735 (GRCm39) |
L261P |
probably damaging |
Het |
Plekhm3 |
G |
T |
1: 64,961,639 (GRCm39) |
H206N |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,625,562 (GRCm39) |
T1863A |
probably benign |
Het |
Prl7c1 |
T |
A |
13: 27,962,812 (GRCm39) |
I64L |
probably benign |
Het |
Psg17 |
A |
T |
7: 18,553,991 (GRCm39) |
N86K |
probably benign |
Het |
Rab37 |
A |
G |
11: 115,045,065 (GRCm39) |
E14G |
probably benign |
Het |
Rad54l2 |
T |
A |
9: 106,579,942 (GRCm39) |
K976N |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,334,621 (GRCm39) |
|
probably benign |
Het |
Sdha |
A |
T |
13: 74,472,062 (GRCm39) |
D602E |
probably damaging |
Het |
Slc22a30 |
T |
A |
19: 8,364,119 (GRCm39) |
T186S |
probably benign |
Het |
Slc22a4 |
A |
T |
11: 53,888,217 (GRCm39) |
C270* |
probably null |
Het |
Slc6a4 |
T |
C |
11: 76,909,110 (GRCm39) |
V374A |
probably benign |
Het |
Spg11 |
T |
C |
2: 121,945,175 (GRCm39) |
D115G |
probably benign |
Het |
Susd1 |
T |
C |
4: 59,427,865 (GRCm39) |
|
probably benign |
Het |
Tor1a |
A |
T |
2: 30,851,104 (GRCm39) |
M286K |
probably damaging |
Het |
Trim12c |
G |
T |
7: 103,994,185 (GRCm39) |
A223D |
|
Het |
Usp32 |
A |
G |
11: 84,908,478 (GRCm39) |
I1076T |
probably damaging |
Het |
Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
Vmn2r101 |
G |
A |
17: 19,810,047 (GRCm39) |
D278N |
probably damaging |
Het |
Zan |
C |
T |
5: 137,387,138 (GRCm39) |
V4972I |
unknown |
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 |
R9319: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'- GCTAGGTCCCATCTGAATCC -3'
(R):5'- CAGGACAGGCTCCCATTAAG -3'
Sequencing Primer
(F):5'- TTCGGATATTCCAGGTGCCCG -3'
(R):5'- CAGGCTCCCATTAAGTTAAAGTGGTG -3'
|
Posted On |
2022-03-25 |