Incidental Mutation 'R5302:Dlgap4'
| ID |
404286 |
| 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 |
042885-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R5302 (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 156602818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 147
(S147P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000094]
[ENSMUST00000070782]
[ENSMUST00000099145]
[ENSMUST00000109566]
[ENSMUST00000109567]
[ENSMUST00000109568]
[ENSMUST00000131157]
[ENSMUST00000169464]
[ENSMUST00000171030]
|
| AlphaFold |
B1AZP2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000094
AA Change: S160P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000000094
Gene: ENSMUSG00000061689
AA Change: S160P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GKAP
|
3 |
232 |
2.4e-81 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070782
AA Change: S851P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000068745
Gene: ENSMUSG00000061689
AA Change: S851P
| 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 |
possibly damaging
Transcript: ENSMUST00000099145
AA Change: S315P
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000096749
Gene: ENSMUSG00000061689
AA Change: S315P
| 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: S147P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105194
Gene: ENSMUSG00000061689
AA Change: S147P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GKAP
|
1 |
285 |
2e-114 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109567
AA Change: S851P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105195
Gene: ENSMUSG00000061689
AA Change: S851P
| 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: S837P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105196
Gene: ENSMUSG00000061689
AA Change: S837P
| 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: ENSMUST00000131157
AA Change: S30P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134941
Gene: ENSMUSG00000061689
AA Change: S30P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GKAP
|
1 |
110 |
2.2e-60 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169464
AA Change: S854P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126980
Gene: ENSMUSG00000061689
AA Change: S854P
| 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: S147P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129756
Gene: ENSMUSG00000061689
AA Change: S147P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GKAP
|
1 |
266 |
8.7e-103 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127944
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,323,111 (GRCm39) |
V1657A |
possibly damaging |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Acot5 |
A |
G |
12: 84,120,215 (GRCm39) |
Y190C |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,583,873 (GRCm39) |
Y941N |
probably benign |
Het |
| BC035947 |
A |
T |
1: 78,488,599 (GRCm39) |
M1K |
probably null |
Het |
| C2cd5 |
A |
G |
6: 143,019,482 (GRCm39) |
C278R |
probably benign |
Het |
| Cd200r1 |
G |
T |
16: 44,613,172 (GRCm39) |
L259F |
possibly damaging |
Het |
| Clcn4 |
A |
G |
7: 7,297,050 (GRCm39) |
V136A |
possibly damaging |
Het |
| Cntnap5a |
T |
C |
1: 116,085,300 (GRCm39) |
S413P |
probably benign |
Het |
| Corin |
T |
A |
5: 72,473,441 (GRCm39) |
E748D |
probably benign |
Het |
| Crtc2 |
G |
T |
3: 90,168,325 (GRCm39) |
G356V |
probably damaging |
Het |
| D1Pas1 |
T |
A |
1: 186,701,642 (GRCm39) |
Y524N |
probably damaging |
Het |
| Eif1ad16 |
T |
A |
12: 87,985,316 (GRCm39) |
I76F |
probably damaging |
Het |
| Enpp1 |
A |
T |
10: 24,527,288 (GRCm39) |
I633N |
probably benign |
Het |
| Gm3095 |
A |
G |
14: 15,170,367 (GRCm39) |
D72G |
probably null |
Het |
| Gm5449 |
C |
T |
13: 53,679,787 (GRCm39) |
|
noncoding transcript |
Het |
| Gpx7 |
T |
C |
4: 108,258,111 (GRCm39) |
T161A |
probably benign |
Het |
| Grip1 |
T |
C |
10: 119,855,982 (GRCm39) |
L236P |
probably damaging |
Het |
| H2-Q2 |
G |
T |
17: 35,563,885 (GRCm39) |
R255S |
probably damaging |
Het |
| Il17rc |
G |
T |
6: 113,459,997 (GRCm39) |
A648S |
possibly damaging |
Het |
| Klhl12 |
A |
G |
1: 134,417,189 (GRCm39) |
E540G |
possibly damaging |
Het |
| Mcm10 |
T |
C |
2: 5,012,181 (GRCm39) |
I135V |
probably benign |
Het |
| Mrps26 |
C |
A |
2: 130,406,087 (GRCm39) |
T100K |
probably benign |
Het |
| Nid2 |
A |
G |
14: 19,829,769 (GRCm39) |
T687A |
probably benign |
Het |
| Npas3 |
A |
T |
12: 54,115,619 (GRCm39) |
D829V |
probably damaging |
Het |
| Ocln |
T |
C |
13: 100,642,807 (GRCm39) |
D176G |
probably damaging |
Het |
| Or11h6 |
A |
G |
14: 50,879,776 (GRCm39) |
|
probably null |
Het |
| Pax3 |
A |
C |
1: 78,098,249 (GRCm39) |
M380R |
possibly damaging |
Het |
| Pcdha3 |
A |
G |
18: 37,081,208 (GRCm39) |
E650G |
probably damaging |
Het |
| Pdcd11 |
C |
A |
19: 47,096,083 (GRCm39) |
H668N |
probably damaging |
Het |
| Polr3b |
T |
C |
10: 84,535,264 (GRCm39) |
Y858H |
possibly damaging |
Het |
| Pus10 |
T |
C |
11: 23,617,416 (GRCm39) |
|
probably null |
Het |
| Raver1 |
T |
C |
9: 20,986,677 (GRCm39) |
D739G |
probably damaging |
Het |
| Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
| Slc26a11 |
T |
C |
11: 119,254,276 (GRCm39) |
L198P |
probably damaging |
Het |
| Slc44a3 |
A |
G |
3: 121,303,962 (GRCm39) |
V258A |
probably damaging |
Het |
| Socs7 |
T |
A |
11: 97,280,025 (GRCm39) |
I524N |
probably damaging |
Het |
| Steap4 |
T |
A |
5: 8,025,547 (GRCm39) |
L36* |
probably null |
Het |
| Svep1 |
G |
C |
4: 58,096,183 (GRCm39) |
T1479S |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,547,619 (GRCm39) |
V32184F |
probably damaging |
Het |
| Vmn1r22 |
T |
C |
6: 57,877,960 (GRCm39) |
N6D |
possibly 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 |
|
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'- AGCACAGCCCACGTTTTAG -3'
(R):5'- GCAATGCCACCATCTTTACAG -3'
Sequencing Primer
(F):5'- GCCCACGTTTTAGTAACACAC -3'
(R):5'- ACCATCTTTACAGTGCCATGAGGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation