Incidental Mutation 'R9288:Dlgap4'
| ID |
704068 |
| 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 # |
R9288 (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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (60/61) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
C |
11: 109,704,444 (GRCm39) |
D66G |
probably benign |
Het |
| Acot7 |
T |
A |
4: 152,291,263 (GRCm39) |
H76Q |
probably damaging |
Het |
| Acsf2 |
C |
T |
11: 94,464,044 (GRCm39) |
V47M |
probably benign |
Het |
| Agmat |
T |
C |
4: 141,474,391 (GRCm39) |
S91P |
probably damaging |
Het |
| Apba1 |
A |
G |
19: 23,923,145 (GRCm39) |
*843W |
probably null |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Asz1 |
A |
G |
6: 18,051,368 (GRCm39) |
I437T |
possibly damaging |
Het |
| Bbs12 |
C |
T |
3: 37,374,712 (GRCm39) |
L387F |
probably damaging |
Het |
| BC028528 |
T |
C |
3: 95,799,227 (GRCm39) |
I6V |
probably benign |
Het |
| C6 |
A |
C |
15: 4,835,532 (GRCm39) |
K770T |
|
Het |
| Cacna1g |
T |
A |
11: 94,308,897 (GRCm39) |
K1669* |
probably null |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Cit |
C |
T |
5: 116,123,512 (GRCm39) |
T1436I |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,286,918 (GRCm39) |
V913E |
unknown |
Het |
| Eml6 |
T |
G |
11: 29,788,641 (GRCm39) |
|
probably null |
Het |
| Epb41l2 |
A |
G |
10: 25,355,653 (GRCm39) |
T486A |
possibly damaging |
Het |
| Fbln5 |
A |
T |
12: 101,734,728 (GRCm39) |
C181* |
probably null |
Het |
| Flnb |
A |
C |
14: 7,904,498 (GRCm38) |
D967A |
probably benign |
Het |
| Glyatl3 |
A |
G |
17: 41,221,016 (GRCm39) |
V117A |
probably benign |
Het |
| Gm4553 |
GCAGCCCCCACAGGAACTACAACCACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGA |
GCAGCCCCCACAGGA |
7: 141,719,025 (GRCm39) |
|
probably benign |
Het |
| Gpa33 |
G |
A |
1: 165,980,304 (GRCm39) |
M122I |
probably benign |
Het |
| Gtf2ird2 |
A |
G |
5: 134,221,571 (GRCm39) |
E58G |
possibly damaging |
Het |
| Hdlbp |
T |
C |
1: 93,336,773 (GRCm39) |
E1125G |
probably benign |
Het |
| Hook1 |
C |
T |
4: 95,901,505 (GRCm39) |
R488C |
probably damaging |
Het |
| Isx |
G |
T |
8: 75,619,439 (GRCm39) |
A197S |
probably benign |
Het |
| Klhl10 |
G |
T |
11: 100,347,719 (GRCm39) |
A592S |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,497,907 (GRCm39) |
D3949E |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,554,860 (GRCm39) |
I1258K |
probably benign |
Het |
| Lpin3 |
C |
A |
2: 160,745,552 (GRCm39) |
N618K |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,522,858 (GRCm39) |
D701E |
probably benign |
Het |
| Mex3a |
T |
A |
3: 88,443,458 (GRCm39) |
M178K |
possibly damaging |
Het |
| Mex3b |
T |
C |
7: 82,518,159 (GRCm39) |
V158A |
probably benign |
Het |
| Myh7 |
A |
T |
14: 55,222,932 (GRCm39) |
F758I |
probably benign |
Het |
| Neb |
T |
G |
2: 52,051,403 (GRCm39) |
N6626H |
probably damaging |
Het |
| Nkd2 |
G |
T |
13: 73,995,177 (GRCm39) |
|
probably benign |
Het |
| Nsmaf |
T |
C |
4: 6,414,976 (GRCm39) |
K630R |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,976,049 (GRCm39) |
F2026Y |
probably benign |
Het |
| Olr1 |
T |
C |
6: 129,470,202 (GRCm39) |
|
probably benign |
Het |
| Osbpl1a |
A |
G |
18: 12,904,402 (GRCm39) |
L589P |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,814,345 (GRCm39) |
K58E |
probably benign |
Het |
| Poll |
T |
C |
19: 45,547,281 (GRCm39) |
I64V |
probably benign |
Het |
| Prdm10 |
A |
G |
9: 31,252,674 (GRCm39) |
E469G |
possibly damaging |
Het |
| Ptprb |
T |
A |
10: 116,155,353 (GRCm39) |
N415K |
probably benign |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
| Rft1 |
A |
T |
14: 30,383,415 (GRCm39) |
K152* |
probably null |
Het |
| Rnf180 |
CGAGG |
CGAGGAGG |
13: 105,386,781 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,119 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
T |
C |
4: 126,916,627 (GRCm39) |
S275P |
probably damaging |
Het |
| Slit1 |
A |
T |
19: 41,613,144 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,952,927 (GRCm39) |
F705L |
probably damaging |
Het |
| Spata17 |
A |
G |
1: 186,844,756 (GRCm39) |
V281A |
possibly damaging |
Het |
| Sulf1 |
G |
A |
1: 12,856,827 (GRCm39) |
R26Q |
probably benign |
Het |
| Tbc1d4 |
T |
C |
14: 101,692,308 (GRCm39) |
Y1052C |
probably damaging |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,149 (GRCm39) |
D251G |
probably benign |
Het |
| Tmem88b |
A |
T |
4: 155,868,733 (GRCm39) |
W172R |
probably damaging |
Het |
| Vdac2 |
C |
A |
14: 21,881,962 (GRCm39) |
P7T |
probably benign |
Het |
| Vmn2r112 |
A |
G |
17: 22,822,323 (GRCm39) |
K334E |
probably damaging |
Het |
| Vmn2r8 |
A |
T |
5: 108,950,185 (GRCm39) |
S221T |
probably benign |
Het |
| Zfp608 |
G |
T |
18: 55,033,341 (GRCm39) |
N397K |
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 |
|
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'- CCTGTCTTCGGATATTCCAGG -3'
(R):5'- TCCTCGGGTGGAAATACTGTC -3'
Sequencing Primer
(F):5'- TTCGGATATTCCAGGTGCCCG -3'
(R):5'- TGTCAGGACAGGCTCCCATTAAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation