Incidental Mutation 'R5504:Dlg2'
| ID |
430825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlg2
|
| Ensembl Gene |
ENSMUSG00000052572 |
| Gene Name |
discs large MAGUK scaffold protein 2 |
| Synonyms |
Gm21505, Chapsyn-110, LOC382816, Dlgh2, PSD93, B330007M19Rik, A330103J02Rik, B230218P12Rik |
| MMRRC Submission |
043065-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5504 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
90125880-92098455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 92091865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 910
(A910V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155862
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074273]
[ENSMUST00000098308]
[ENSMUST00000107193]
[ENSMUST00000107196]
[ENSMUST00000231777]
|
| AlphaFold |
Q91XM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074273
AA Change: A823V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000073885
Gene: ENSMUSG00000052572
AA Change: A823V
| Domain | Start | End | E-Value | Type |
|---|
|
MAGUK_N_PEST
|
14 |
97 |
1.5e-47 |
SMART |
|
PDZ
|
106 |
185 |
1.15e-23 |
SMART |
|
PDZ
|
201 |
280 |
9.86e-23 |
SMART |
|
PDZ
|
429 |
502 |
1.77e-24 |
SMART |
|
low complexity region
|
523 |
530 |
N/A |
INTRINSIC |
|
SH3
|
539 |
605 |
7.82e-10 |
SMART |
|
low complexity region
|
631 |
644 |
N/A |
INTRINSIC |
|
GuKc
|
679 |
858 |
2.6e-73 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098308
AA Change: A434V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095910
Gene: ENSMUSG00000052572
AA Change: A434V
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
26 |
99 |
1.77e-24 |
SMART |
|
low complexity region
|
120 |
127 |
N/A |
INTRINSIC |
|
SH3
|
136 |
202 |
7.82e-10 |
SMART |
|
low complexity region
|
228 |
241 |
N/A |
INTRINSIC |
|
GuKc
|
290 |
469 |
2.6e-73 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107193
AA Change: A708V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102811
Gene: ENSMUSG00000052572
AA Change: A708V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
57 |
N/A |
INTRINSIC |
|
PDZ
|
61 |
140 |
1.15e-23 |
SMART |
|
PDZ
|
156 |
235 |
9.86e-23 |
SMART |
|
PDZ
|
332 |
405 |
1.77e-24 |
SMART |
|
low complexity region
|
426 |
433 |
N/A |
INTRINSIC |
|
SH3
|
442 |
508 |
7.82e-10 |
SMART |
|
GuKc
|
564 |
743 |
2.6e-73 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107196
AA Change: A805V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102814
Gene: ENSMUSG00000052572
AA Change: A805V
| Domain | Start | End | E-Value | Type |
|---|
|
MAGUK_N_PEST
|
14 |
97 |
1.5e-47 |
SMART |
|
PDZ
|
106 |
185 |
1.15e-23 |
SMART |
|
PDZ
|
201 |
280 |
9.86e-23 |
SMART |
|
PDZ
|
429 |
502 |
1.77e-24 |
SMART |
|
low complexity region
|
523 |
530 |
N/A |
INTRINSIC |
|
SH3
|
539 |
605 |
7.82e-10 |
SMART |
|
GuKc
|
661 |
840 |
2.6e-73 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207891
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231777
AA Change: A910V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.7668 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.6%
|
| Validation Efficiency |
99% (69/70) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described, but their full-length nature is not known. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display lower surface expression of NMDA receptor (NMDAR) subunits NR2A and NR2B in dorsal horn neurons and significantly reduced NMDAR-mediated excitatory synaptic currents and NMDAR-dependent persistent inflammatory or nerve injury-induced neuropathic pain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
C |
T |
8: 44,078,319 (GRCm39) |
C635Y |
probably damaging |
Het |
| Akr1b7 |
A |
G |
6: 34,396,453 (GRCm39) |
|
probably null |
Het |
| Amy2a1 |
T |
G |
3: 113,325,318 (GRCm39) |
D92A |
probably benign |
Het |
| Angel2 |
A |
G |
1: 190,676,083 (GRCm39) |
T455A |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,119,050 (GRCm39) |
|
probably benign |
Het |
| Ankrd40 |
A |
G |
11: 94,219,153 (GRCm39) |
E25G |
probably benign |
Het |
| Asb18 |
T |
A |
1: 89,920,746 (GRCm39) |
D136V |
probably damaging |
Het |
| Asphd1 |
T |
C |
7: 126,545,350 (GRCm39) |
I336V |
possibly damaging |
Het |
| Birc6 |
C |
T |
17: 74,962,208 (GRCm39) |
P58S |
probably damaging |
Het |
| Bsx |
A |
T |
9: 40,785,460 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,488,843 (GRCm39) |
L1965P |
probably benign |
Het |
| Capza3 |
A |
T |
6: 139,988,165 (GRCm39) |
I255L |
probably benign |
Het |
| Ccdc185 |
G |
T |
1: 182,575,192 (GRCm39) |
A499E |
probably damaging |
Het |
| Cfhr4 |
A |
T |
1: 139,629,558 (GRCm39) |
S749T |
probably benign |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Colgalt2 |
G |
A |
1: 152,276,054 (GRCm39) |
V56M |
possibly damaging |
Het |
| Dennd1b |
A |
T |
1: 139,018,246 (GRCm39) |
T197S |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,914,278 (GRCm39) |
Y1000H |
probably benign |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dock5 |
T |
C |
14: 68,040,535 (GRCm39) |
D884G |
probably benign |
Het |
| Fhad1 |
A |
G |
4: 141,712,846 (GRCm39) |
S198P |
probably benign |
Het |
| Gabpa |
T |
C |
16: 84,649,446 (GRCm39) |
S218P |
probably benign |
Het |
| Gm17654 |
A |
T |
14: 43,815,494 (GRCm39) |
N104K |
unknown |
Het |
| Gm4775 |
T |
C |
14: 106,338,389 (GRCm39) |
|
noncoding transcript |
Het |
| Gvin3 |
T |
A |
7: 106,201,951 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr1 |
T |
A |
13: 12,421,500 (GRCm39) |
S467T |
possibly damaging |
Het |
| Hecw1 |
A |
G |
13: 14,515,487 (GRCm39) |
M215T |
probably benign |
Het |
| Hmgn2 |
A |
T |
4: 133,694,114 (GRCm39) |
|
probably benign |
Het |
| Kncn |
T |
A |
4: 115,742,062 (GRCm39) |
I43N |
possibly damaging |
Het |
| Lgals3bp |
G |
T |
11: 118,284,811 (GRCm39) |
T256N |
probably benign |
Het |
| Mpi |
T |
C |
9: 57,452,500 (GRCm39) |
D344G |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,178,879 (GRCm39) |
E1304K |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,481,564 (GRCm39) |
F1091I |
probably benign |
Het |
| Nrcam |
T |
G |
12: 44,610,915 (GRCm39) |
|
probably null |
Het |
| Or2a7 |
T |
A |
6: 43,151,572 (GRCm39) |
Y217* |
probably null |
Het |
| Or4c114 |
C |
T |
2: 88,905,024 (GRCm39) |
R137Q |
probably benign |
Het |
| Or56a4 |
T |
C |
7: 104,806,383 (GRCm39) |
K169E |
probably benign |
Het |
| Pappa2 |
A |
G |
1: 158,675,615 (GRCm39) |
S1044P |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,621,222 (GRCm39) |
L1014S |
probably damaging |
Het |
| Pear1 |
G |
A |
3: 87,660,002 (GRCm39) |
|
probably benign |
Het |
| Piwil2 |
T |
A |
14: 70,627,348 (GRCm39) |
Y797F |
probably benign |
Het |
| Ppp2r1b |
T |
G |
9: 50,770,187 (GRCm39) |
L81R |
probably damaging |
Het |
| Pxdn |
C |
A |
12: 30,052,800 (GRCm39) |
H812Q |
probably damaging |
Het |
| Rad21l |
A |
T |
2: 151,510,357 (GRCm39) |
F33I |
probably damaging |
Het |
| Rgs13 |
A |
T |
1: 144,015,358 (GRCm39) |
C120S |
possibly damaging |
Het |
| Rp1 |
G |
A |
1: 4,420,113 (GRCm39) |
T333M |
probably damaging |
Het |
| Sema6d |
T |
A |
2: 124,499,941 (GRCm39) |
V339E |
probably damaging |
Het |
| Serpina3i |
T |
A |
12: 104,232,862 (GRCm39) |
Y256N |
probably damaging |
Het |
| Slc13a1 |
A |
T |
6: 24,150,743 (GRCm39) |
M65K |
possibly damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,349,064 (GRCm39) |
K45R |
probably damaging |
Het |
| Src |
T |
C |
2: 157,306,641 (GRCm39) |
Y215H |
probably damaging |
Het |
| Synj2 |
T |
C |
17: 6,086,750 (GRCm39) |
V384A |
possibly damaging |
Het |
| Tmeff1 |
T |
C |
4: 48,650,396 (GRCm39) |
S285P |
probably damaging |
Het |
| Vmn2r125 |
A |
G |
4: 156,703,456 (GRCm39) |
D278G |
possibly damaging |
Het |
| Vmn2r45 |
T |
C |
7: 8,486,176 (GRCm39) |
K371E |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,218,341 (GRCm39) |
H426Q |
probably benign |
Het |
|
| Other mutations in Dlg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00227:Dlg2
|
APN |
7 |
91,614,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01111:Dlg2
|
APN |
7 |
91,098,971 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01122:Dlg2
|
APN |
7 |
92,091,816 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01296:Dlg2
|
APN |
7 |
91,589,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02063:Dlg2
|
APN |
7 |
91,459,684 (GRCm39) |
splice site |
probably benign |
|
|
IGL02233:Dlg2
|
APN |
7 |
92,093,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02519:Dlg2
|
APN |
7 |
91,589,323 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02833:Dlg2
|
APN |
7 |
92,080,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03166:Dlg2
|
APN |
7 |
91,549,938 (GRCm39) |
splice site |
probably benign |
|
|
R0932:Dlg2
|
UTSW |
7 |
92,024,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1129:Dlg2
|
UTSW |
7 |
92,080,382 (GRCm39) |
splice site |
probably null |
|
|
R1245:Dlg2
|
UTSW |
7 |
92,091,803 (GRCm39) |
splice site |
probably benign |
|
|
R1319:Dlg2
|
UTSW |
7 |
92,087,231 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1464:Dlg2
|
UTSW |
7 |
91,617,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Dlg2
|
UTSW |
7 |
91,617,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1596:Dlg2
|
UTSW |
7 |
92,080,259 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1650:Dlg2
|
UTSW |
7 |
92,080,259 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1868:Dlg2
|
UTSW |
7 |
92,036,160 (GRCm39) |
nonsense |
probably null |
|
|
R2006:Dlg2
|
UTSW |
7 |
91,614,825 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2026:Dlg2
|
UTSW |
7 |
91,614,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2281:Dlg2
|
UTSW |
7 |
92,087,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3721:Dlg2
|
UTSW |
7 |
91,361,008 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3722:Dlg2
|
UTSW |
7 |
91,361,008 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3793:Dlg2
|
UTSW |
7 |
91,459,743 (GRCm39) |
splice site |
probably benign |
|
|
R4120:Dlg2
|
UTSW |
7 |
91,614,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4444:Dlg2
|
UTSW |
7 |
91,737,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4631:Dlg2
|
UTSW |
7 |
91,737,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4672:Dlg2
|
UTSW |
7 |
91,935,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4678:Dlg2
|
UTSW |
7 |
92,077,788 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4695:Dlg2
|
UTSW |
7 |
92,087,170 (GRCm39) |
splice site |
probably null |
|
|
R5106:Dlg2
|
UTSW |
7 |
92,091,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5355:Dlg2
|
UTSW |
7 |
91,099,011 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5385:Dlg2
|
UTSW |
7 |
91,737,784 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5403:Dlg2
|
UTSW |
7 |
92,080,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5569:Dlg2
|
UTSW |
7 |
91,617,388 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5573:Dlg2
|
UTSW |
7 |
91,646,532 (GRCm39) |
splice site |
probably null |
|
|
R5848:Dlg2
|
UTSW |
7 |
92,093,735 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5863:Dlg2
|
UTSW |
7 |
91,360,987 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5907:Dlg2
|
UTSW |
7 |
91,646,579 (GRCm39) |
intron |
probably benign |
|
|
R6455:Dlg2
|
UTSW |
7 |
92,093,716 (GRCm39) |
splice site |
probably null |
|
|
R6486:Dlg2
|
UTSW |
7 |
91,521,582 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6817:Dlg2
|
UTSW |
7 |
91,614,872 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7082:Dlg2
|
UTSW |
7 |
90,381,192 (GRCm39) |
missense |
probably benign |
|
|
R7667:Dlg2
|
UTSW |
7 |
92,087,364 (GRCm39) |
splice site |
probably null |
|
|
R7808:Dlg2
|
UTSW |
7 |
92,080,263 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7818:Dlg2
|
UTSW |
7 |
91,589,225 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7908:Dlg2
|
UTSW |
7 |
91,549,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7969:Dlg2
|
UTSW |
7 |
92,066,466 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8157:Dlg2
|
UTSW |
7 |
92,036,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8174:Dlg2
|
UTSW |
7 |
91,589,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8344:Dlg2
|
UTSW |
7 |
92,087,222 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8428:Dlg2
|
UTSW |
7 |
90,740,240 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8443:Dlg2
|
UTSW |
7 |
92,024,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8463:Dlg2
|
UTSW |
7 |
91,617,441 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8487:Dlg2
|
UTSW |
7 |
91,935,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8501:Dlg2
|
UTSW |
7 |
92,024,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8894:Dlg2
|
UTSW |
7 |
91,614,946 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8959:Dlg2
|
UTSW |
7 |
90,501,927 (GRCm39) |
nonsense |
probably null |
|
|
R9130:Dlg2
|
UTSW |
7 |
92,080,258 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9347:Dlg2
|
UTSW |
7 |
91,360,900 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9424:Dlg2
|
UTSW |
7 |
92,080,325 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9617:Dlg2
|
UTSW |
7 |
92,087,284 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9751:Dlg2
|
UTSW |
7 |
90,564,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF004:Dlg2
|
UTSW |
7 |
90,501,885 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCGGCTGAAATGGTTCCAC -3'
(R):5'- ATCCAGAGCTCTAAACCAAGTGG -3'
Sequencing Primer
(F):5'- CCAATGGGTCGGTCCAAGATG -3'
(R):5'- CCAAGTGGGTAAGGCAGATAAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation