Incidental Mutation 'R2078:Dlgap4'
| ID |
229259 |
| 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 |
040083-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R2078 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
156455625-156606283 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156604746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 261
(S261P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000094]
[ENSMUST00000070782]
[ENSMUST00000099145]
[ENSMUST00000109566]
[ENSMUST00000109567]
[ENSMUST00000109568]
[ENSMUST00000169464]
[ENSMUST00000171030]
[ENSMUST00000131157]
|
| AlphaFold |
B1AZP2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000094
|
| SMART Domains |
Protein: ENSMUSP00000000094
Gene: ENSMUSG00000061689
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GKAP
|
3 |
232 |
2.4e-81 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070782
AA Change: S965P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068745
Gene: ENSMUSG00000061689
AA Change: S965P
| 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: ENSMUST00000099145
AA Change: S429P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096749
Gene: ENSMUSG00000061689
AA Change: S429P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
98 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
114 |
453 |
2.4e-126 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109566
AA Change: S261P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105194
Gene: ENSMUSG00000061689
AA Change: S261P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GKAP
|
1 |
285 |
2e-114 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109567
AA Change: S965P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105195
Gene: ENSMUSG00000061689
AA Change: S965P
| 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 |
probably damaging
Transcript: ENSMUST00000109568
AA Change: S951P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105196
Gene: ENSMUSG00000061689
AA Change: S951P
| 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 |
noncoding transcript
Transcript: ENSMUST00000123730
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169464
AA Change: S968P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126980
Gene: ENSMUSG00000061689
AA Change: S968P
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171030
AA Change: S261P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129756
Gene: ENSMUSG00000061689
AA Change: S261P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GKAP
|
1 |
266 |
8.7e-103 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131157
|
| SMART Domains |
Protein: ENSMUSP00000134941
Gene: ENSMUSG00000061689
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GKAP
|
1 |
110 |
2.2e-60 |
PFAM |
|
| Meta Mutation Damage Score |
0.6722 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
C |
A |
1: 75,148,780 (GRCm39) |
G55C |
probably damaging |
Het |
| Acss3 |
T |
C |
10: 106,802,902 (GRCm39) |
T448A |
possibly damaging |
Het |
| Atxn7 |
A |
G |
14: 14,052,975 (GRCm38) |
N138D |
probably damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,315,077 (GRCm39) |
D869V |
probably benign |
Het |
| Cps1 |
T |
G |
1: 67,196,965 (GRCm39) |
Y339D |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,234,424 (GRCm39) |
I937T |
possibly damaging |
Het |
| Dusp6 |
T |
C |
10: 99,099,686 (GRCm39) |
Y45H |
probably damaging |
Het |
| Ebag9 |
A |
G |
15: 44,500,200 (GRCm39) |
N157S |
probably damaging |
Het |
| Exoc4 |
A |
G |
6: 33,887,522 (GRCm39) |
D770G |
probably benign |
Het |
| Ezr |
A |
G |
17: 7,050,041 (GRCm39) |
M1T |
probably null |
Het |
| Fat4 |
A |
G |
3: 38,943,822 (GRCm39) |
N905S |
probably damaging |
Het |
| Fcrlb |
C |
G |
1: 170,735,650 (GRCm39) |
R208P |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,927,466 (GRCm38) |
V1892A |
probably damaging |
Het |
| Gas2 |
G |
A |
7: 51,547,073 (GRCm39) |
V75M |
probably benign |
Het |
| Gda |
T |
A |
19: 21,378,036 (GRCm39) |
D267V |
probably damaging |
Het |
| Gper1 |
A |
T |
5: 139,411,888 (GRCm39) |
I78F |
probably benign |
Het |
| Hectd1 |
A |
C |
12: 51,795,325 (GRCm39) |
I2368S |
probably damaging |
Het |
| Katna1 |
C |
T |
10: 7,619,333 (GRCm39) |
P114S |
probably benign |
Het |
| Lce3c |
G |
A |
3: 92,852,758 (GRCm39) |
S73N |
unknown |
Het |
| Lrfn3 |
A |
T |
7: 30,059,879 (GRCm39) |
D115E |
possibly damaging |
Het |
| Lrrc47 |
C |
A |
4: 154,103,888 (GRCm39) |
T505K |
probably damaging |
Het |
| Mertk |
C |
T |
2: 128,636,378 (GRCm39) |
T784I |
probably damaging |
Het |
| Mettl21e |
T |
A |
1: 44,245,662 (GRCm39) |
I195F |
possibly damaging |
Het |
| Mff |
T |
C |
1: 82,719,642 (GRCm39) |
S207P |
probably damaging |
Het |
| Mtmr6 |
A |
G |
14: 60,529,436 (GRCm39) |
|
probably null |
Het |
| Myh9 |
T |
C |
15: 77,648,112 (GRCm39) |
K1788R |
probably benign |
Het |
| Narf |
A |
G |
11: 121,136,220 (GRCm39) |
T199A |
probably benign |
Het |
| Neurod6 |
A |
G |
6: 55,655,954 (GRCm39) |
S228P |
probably benign |
Het |
| Notch4 |
A |
T |
17: 34,787,689 (GRCm39) |
|
probably null |
Het |
| Nyap2 |
T |
C |
1: 81,169,696 (GRCm39) |
L151P |
probably damaging |
Het |
| Or5b21 |
T |
A |
19: 12,839,751 (GRCm39) |
V204E |
probably benign |
Het |
| P2ry1 |
A |
G |
3: 60,911,118 (GRCm39) |
I86V |
probably damaging |
Het |
| Pafah1b2 |
G |
T |
9: 45,880,127 (GRCm39) |
D183E |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,619,276 (GRCm39) |
E179G |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,250,791 (GRCm39) |
E436G |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,391,163 (GRCm39) |
I1514V |
probably benign |
Het |
| Plch1 |
A |
G |
3: 63,609,364 (GRCm39) |
S948P |
probably benign |
Het |
| Rfc5 |
A |
G |
5: 117,518,868 (GRCm39) |
V296A |
probably benign |
Het |
| Rnf150 |
A |
T |
8: 83,730,234 (GRCm39) |
I255F |
probably damaging |
Het |
| Rsbn1 |
A |
G |
3: 103,868,839 (GRCm39) |
D626G |
probably damaging |
Het |
| Sfswap |
A |
G |
5: 129,593,171 (GRCm39) |
D346G |
possibly damaging |
Het |
| Slc38a11 |
A |
T |
2: 65,160,728 (GRCm39) |
F289I |
possibly damaging |
Het |
| Terf2ip |
A |
G |
8: 112,742,035 (GRCm39) |
N243S |
probably benign |
Het |
| Tmed5 |
A |
T |
5: 108,272,471 (GRCm39) |
V209E |
probably damaging |
Het |
| Tmem63b |
A |
G |
17: 45,974,462 (GRCm39) |
S603P |
possibly damaging |
Het |
| Tomm20 |
T |
C |
8: 127,663,822 (GRCm39) |
M121V |
possibly damaging |
Het |
| Tspan33 |
G |
A |
6: 29,709,970 (GRCm39) |
V45I |
probably benign |
Het |
| Usp17la |
A |
T |
7: 104,508,600 (GRCm39) |
M1L |
probably benign |
Het |
| Vsig8 |
C |
A |
1: 172,390,856 (GRCm39) |
D301E |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,145,597 (GRCm39) |
H91Q |
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 |
|
|
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 |
|
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'- ACGTGGCACCTTTAGTTTATTTCTG -3'
(R):5'- CACATTGTGAGCCCTTGTGTG -3'
Sequencing Primer
(F):5'- GTTCCCTCCTCACTGTCTCAATAAAG -3'
(R):5'- GCTCAGGGTCTCTAGAGATAATAACC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation