Mutagenetix > Incidental Mutation

Incidental Mutation 'R4782:Dlg4'

366642

Institutional Source

Beutler Lab

Gene Symbol

Dlg4

Ensembl Gene

ENSMUSG00000020886

Gene Name

discs large MAGUK scaffold protein 4

Synonyms

SAP90, PSD-95, Dlgh4, SAP90A, PSD95

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4782 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69908029-69938107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69917780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 21 (P21L)

Ref Sequence

ENSEMBL: ENSMUSP00000115206 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018700] [ENSMUST00000108588] [ENSMUST00000108589] [ENSMUST00000123687] [ENSMUST00000124568] [ENSMUST00000132597] [ENSMUST00000134376] [ENSMUST00000231415] [ENSMUST00000231221] [ENSMUST00000231506] [ENSMUST00000231628] [ENSMUST00000232115] [ENSMUST00000143920] [ENSMUST00000135916] [ENSMUST00000133140] [ENSMUST00000232002] [ENSMUST00000231452] [ENSMUST00000232266]

AlphaFold

Q62108

Predicted Effect

probably benign
Transcript: ENSMUST00000018700

SMART Domains

Protein: ENSMUSP00000018700
Gene: ENSMUSG00000020886

Domain	Start	End	E-Value	Type
MAGUK_N_PEST	10	64	1.36e-4	SMART
PDZ	73	152	3.38e-21	SMART
PDZ	168	247	1.12e-21	SMART
PDZ	321	394	4.13e-25	SMART
SH3	431	497	1.68e-9	SMART
GuKc	533	712	3.65e-68	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000108586

Predicted Effect

probably damaging
Transcript: ENSMUST00000108588
AA Change: P21L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104229
Gene: ENSMUSG00000020886
AA Change: P21L

Domain	Start	End	E-Value	Type
MAGUK_N_PEST	10	61	1e-7	SMART
PDZ	70	149	3.38e-21	SMART
PDZ	165	244	1.12e-21	SMART
PDZ	318	391	4.13e-25	SMART
SH3	428	494	1.68e-9	SMART
GuKc	530	709	3.65e-68	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108589
AA Change: P64L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104230
Gene: ENSMUSG00000020886
AA Change: P64L

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
MAGUK_N_PEST	53	107	1.36e-4	SMART
PDZ	116	195	3.38e-21	SMART
PDZ	211	290	1.12e-21	SMART
PDZ	364	437	4.13e-25	SMART
SH3	474	540	1.68e-9	SMART
GuKc	576	755	3.65e-68	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123687
AA Change: P64L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134545
Gene: ENSMUSG00000020886
AA Change: P64L

Domain	Start	End	E-Value	Type
SH3	11	77	1.68e-9	SMART
GuKc	113	205	7.37e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000124568
AA Change: P25L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121053
Gene: ENSMUSG00000020886
AA Change: P25L

Domain	Start	End	E-Value	Type
low complexity region	9	36	N/A	INTRINSIC
MAGUK_N_PEST	69	123	7.67e-4	SMART
Pfam:PDZ	124	185	7.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132597

SMART Domains

Protein: ENSMUSP00000114165
Gene: ENSMUSG00000020886

Domain	Start	End	E-Value	Type
Pfam:MAGUK_N_PEST	2	43	5.8e-13	PFAM
PDZ	52	131	3.38e-21	SMART
PDZ	147	226	1.12e-21	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000134376
AA Change: P21L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115206
Gene: ENSMUSG00000020886
AA Change: P21L

Domain	Start	End	E-Value	Type
MAGUK_N_PEST	10	97	3.39e-37	SMART
PDZ	106	165	1.79e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138004

Predicted Effect

probably benign
Transcript: ENSMUST00000231415
AA Change: P21L

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231221
AA Change: P21L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000231506
AA Change: P64L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000231628

Predicted Effect

probably benign
Transcript: ENSMUST00000232115

Predicted Effect

probably benign
Transcript: ENSMUST00000143920

Predicted Effect

probably benign
Transcript: ENSMUST00000135916

SMART Domains

Protein: ENSMUSP00000135994
Gene: ENSMUSG00000020886

Domain	Start	End	E-Value	Type
Pfam:PDZ	5	51	6.3e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000232659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133140

SMART Domains

Protein: ENSMUSP00000126707
Gene: ENSMUSG00000020886

Domain	Start	End	E-Value	Type
PDZ	13	92	3.38e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000232002

Predicted Effect

probably benign
Transcript: ENSMUST00000231452

Predicted Effect

probably benign
Transcript: ENSMUST00000232266

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

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. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins 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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit severely impaired spatial learning, alterations in long-term potentiation and depression, and lack of hyperalgesia responses in a neuropathic pain model. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 121 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,278,096 (GRCm39)	E3092G	probably damaging	Het
Abhd12b	C	G	12: 70,215,838 (GRCm39)	S170C	probably damaging	Het
Abtb2	A	T	2: 103,547,644 (GRCm39)	D1006V	probably benign	Het
Abtb3	A	C	10: 85,490,414 (GRCm39)	I1027L	probably damaging	Het
Adgrl1	A	G	8: 84,662,202 (GRCm39)	H1021R	probably benign	Het
Ago3	A	T	4: 126,241,665 (GRCm39)		probably null	Het
Ahnak	A	G	19: 8,989,863 (GRCm39)		probably benign	Het
Akap6	CA	C	12: 52,934,406 (GRCm39)		probably null	Het
Amotl2	T	G	9: 102,597,322 (GRCm39)		probably null	Het
Ankrd34b	T	A	13: 92,574,813 (GRCm39)	I15N	probably damaging	Het
Ap3d1	C	T	10: 80,557,420 (GRCm39)		probably null	Het
Appl2	A	T	10: 83,436,855 (GRCm39)	D635E	probably damaging	Het
Arid1b	C	T	17: 5,389,496 (GRCm39)	P1681S	probably damaging	Het
Atp10a	T	C	7: 58,440,843 (GRCm39)	M496T	probably benign	Het
Atp2c2	A	G	8: 120,475,891 (GRCm39)	K595E	probably damaging	Het
Atpaf2	T	C	11: 60,295,238 (GRCm39)	H204R	probably damaging	Het
Atr	G	A	9: 95,744,850 (GRCm39)	V56I	probably benign	Het
Bod1l	G	A	5: 41,991,006 (GRCm39)	T183I	probably benign	Het
Ccdc168	T	C	1: 44,098,203 (GRCm39)	D965G	possibly damaging	Het
Ccdc171	A	T	4: 83,599,253 (GRCm39)	E689D	probably damaging	Het
Cdc73	T	A	1: 143,503,613 (GRCm39)	Q346L	probably benign	Het
Cert1	T	C	13: 96,748,773 (GRCm39)	V281A	probably benign	Het
Chd2	A	T	7: 73,134,184 (GRCm39)	M721K	possibly damaging	Het
Col22a1	T	A	15: 71,673,774 (GRCm39)	T981S	unknown	Het
Cpox	G	A	16: 58,492,986 (GRCm39)	A207T	probably damaging	Het
Cym	G	A	3: 107,123,413 (GRCm39)	T160I	possibly damaging	Het
D130043K22Rik	T	C	13: 25,062,023 (GRCm39)	I664T	probably damaging	Het
Ddx4	C	T	13: 112,750,230 (GRCm39)		probably null	Het
Ddx4	A	T	13: 112,787,894 (GRCm39)	V15E	probably benign	Het
Depdc1a	G	A	3: 159,232,273 (GRCm39)	E675K	probably damaging	Het
Dglucy	A	T	12: 100,816,602 (GRCm39)	M415L	probably benign	Het
Dmxl1	A	T	18: 49,996,059 (GRCm39)	N395I	probably damaging	Het
Dzank1	A	T	2: 144,346,319 (GRCm39)	C249S	probably damaging	Het
Efnb2	A	T	8: 8,673,104 (GRCm39)		probably null	Het
Ercc6l2	T	G	13: 63,982,552 (GRCm39)	I244S	probably damaging	Het
Ewsr1	A	T	11: 5,020,423 (GRCm39)	M584K	unknown	Het
Fam193b	A	G	13: 55,691,284 (GRCm39)	S197P	probably damaging	Het
Fanca	A	G	8: 124,014,941 (GRCm39)	V689A	probably damaging	Het
Fbxo31	A	T	8: 122,279,178 (GRCm39)	Y436*	probably null	Het
Fbxo31	A	G	8: 122,279,180 (GRCm39)	Y436H	probably damaging	Het
Fcna	T	A	2: 25,515,338 (GRCm39)	D215V	probably damaging	Het
Foxj3	A	T	4: 119,478,857 (GRCm39)	S438C	unknown	Het
Gcm2	T	C	13: 41,256,970 (GRCm39)	K260E	possibly damaging	Het
Gcnt4	A	T	13: 97,083,914 (GRCm39)	L403F	possibly damaging	Het
Gdf10	A	G	14: 33,653,870 (GRCm39)	T126A	probably benign	Het
Ggcx	A	G	6: 72,405,875 (GRCm39)	K569E	probably benign	Het
Gm10250	C	T	15: 5,150,578 (GRCm39)		probably benign	Het
Gpnmb	G	T	6: 49,022,417 (GRCm39)		probably null	Het
Ifi44	G	A	3: 151,451,229 (GRCm39)	P241S	probably damaging	Het
Irs1	T	C	1: 82,265,184 (GRCm39)	T1011A	probably benign	Het
Jag2	A	T	12: 112,877,869 (GRCm39)	S595T	probably benign	Het
Kif5a	T	A	10: 127,066,823 (GRCm39)	Q960L	probably benign	Het
Kifc2	A	G	15: 76,548,548 (GRCm39)	E430G	possibly damaging	Het
Lama3	T	A	18: 12,544,627 (GRCm39)	C323*	probably null	Het
Lgsn	T	C	1: 31,242,823 (GRCm39)	Y302H	probably benign	Het
Lmbrd1	G	A	1: 24,784,056 (GRCm39)		probably null	Het
Lrpap1	A	G	5: 35,256,622 (GRCm39)	V120A	probably damaging	Het
Macrod2	T	A	2: 140,261,858 (GRCm39)	D46E	possibly damaging	Het
Mbd4	C	A	6: 115,822,283 (GRCm39)	R63L	possibly damaging	Het
Mfsd10	T	C	5: 34,792,293 (GRCm39)		probably benign	Het
Mib2	G	T	4: 155,744,229 (GRCm39)	S144R	probably benign	Het
Muc5b	T	A	7: 141,401,453 (GRCm39)	C566*	probably null	Het
Ndufs1	C	A	1: 63,200,108 (GRCm39)	G268V	probably damaging	Het
Nfs1	A	G	2: 155,976,369 (GRCm39)	V175A	possibly damaging	Het
Ngb	G	A	12: 87,146,999 (GRCm39)	H73Y	probably benign	Het
Npepps	G	A	11: 97,117,652 (GRCm39)	T549I	probably damaging	Het
Nr1h2	A	G	7: 44,199,923 (GRCm39)	V329A	possibly damaging	Het
Nsun6	T	C	2: 15,041,137 (GRCm39)	I151M	possibly damaging	Het
Ofcc1	T	C	13: 40,155,368 (GRCm39)		probably null	Het
Or1e31	C	T	11: 73,689,665 (GRCm39)	C306Y	probably benign	Het
Or2y16	T	A	11: 49,334,696 (GRCm39)	F6Y	probably benign	Het
Or2z8	A	G	8: 72,811,938 (GRCm39)	N138S	probably benign	Het
Or51h1	T	A	7: 102,308,041 (GRCm39)	N4K	possibly damaging	Het
Or5an1c	C	T	19: 12,218,936 (GRCm39)	V30I	probably benign	Het
Or8b46	A	G	9: 38,450,371 (GRCm39)	Y60C	probably damaging	Het
Parp6	A	G	9: 59,542,267 (GRCm39)		probably null	Het
Pcnt	C	A	10: 76,245,411 (GRCm39)	R1075S	possibly damaging	Het
Pla2g4f	T	C	2: 120,133,757 (GRCm39)	E548G	probably damaging	Het
Polrmt	G	T	10: 79,575,357 (GRCm39)	H725N	probably benign	Het
Pou2f3	T	C	9: 43,051,153 (GRCm39)	T178A	probably damaging	Het
Prtn3	C	A	10: 79,717,899 (GRCm39)	P169H	probably damaging	Het
Ptprd	A	G	4: 76,009,769 (GRCm39)	I764T	probably benign	Het
Ptprh	A	T	7: 4,572,576 (GRCm39)	H467Q	probably benign	Het
Raph1	A	T	1: 60,528,273 (GRCm39)	I996N	probably damaging	Het
Rasa4	G	A	5: 136,120,083 (GRCm39)	W53*	probably null	Het
Rasgrp1	C	T	2: 117,115,356 (GRCm39)	R744Q	probably benign	Het
Rmnd5a	T	C	6: 71,390,333 (GRCm39)	E141G	probably damaging	Het
Rps12	T	C	10: 23,662,688 (GRCm39)	I51M	possibly damaging	Het
Scn10a	T	G	9: 119,451,976 (GRCm39)	S1316R	possibly damaging	Het
Sdhb	A	G	4: 140,704,777 (GRCm39)	H246R	possibly damaging	Het
Setx	G	A	2: 29,034,058 (GRCm39)	R332Q	probably damaging	Het
Siglec1	A	C	2: 130,917,843 (GRCm39)	S1011R	probably damaging	Het
Sin3b	A	C	8: 73,452,271 (GRCm39)	I126L	probably benign	Het
Slc11a1	T	G	1: 74,423,247 (GRCm39)	L366R	probably damaging	Het
Slc12a1	C	T	2: 125,002,999 (GRCm39)	R177*	probably null	Het
Slc30a1	A	C	1: 191,641,160 (GRCm39)	K269Q	probably benign	Het
Slco1a5	T	C	6: 142,194,533 (GRCm39)	Y370C	possibly damaging	Het
Slf2	T	A	19: 44,923,364 (GRCm39)		probably null	Het
Sltm	A	G	9: 70,496,339 (GRCm39)	H958R	probably damaging	Het
Snrnp40	A	G	4: 130,256,549 (GRCm39)	I91M	probably damaging	Het
Spta1	A	T	1: 174,058,232 (GRCm39)	Q1900L	probably benign	Het
Srgn	C	T	10: 62,333,631 (GRCm39)	E49K	possibly damaging	Het
Ssu2	A	C	6: 112,353,411 (GRCm39)	C238G	probably damaging	Het
Terf2	G	T	8: 107,803,307 (GRCm39)	H425Q	probably benign	Het
Thra	G	A	11: 98,646,990 (GRCm39)	S37N	probably benign	Het
Toporsl	A	G	4: 52,610,845 (GRCm39)	D246G	probably damaging	Het
Ubap2l	G	A	3: 89,928,210 (GRCm39)	T553M	probably damaging	Het
Usp10	A	G	8: 120,667,930 (GRCm39)	Y77C	probably benign	Het
Utrn	T	C	10: 12,625,813 (GRCm39)	T123A	probably damaging	Het
Vmn1r204	T	G	13: 22,740,867 (GRCm39)	F166C	probably benign	Het
Vmn2r14	T	C	5: 109,369,370 (GRCm39)	I68V	probably benign	Het
Wls	C	T	3: 159,603,082 (GRCm39)	T165I	probably benign	Het
Wsb1	A	G	11: 79,131,199 (GRCm39)	M399T	probably benign	Het
Xbp1	C	T	11: 5,471,167 (GRCm39)	T58M	probably damaging	Het
Zbtb46	A	T	2: 181,032,929 (GRCm39)	D577E	probably benign	Het
Zfp366	A	G	13: 99,382,991 (GRCm39)	D718G	probably damaging	Het
Zfp408	A	T	2: 91,475,369 (GRCm39)	V595E	possibly damaging	Het
Zfp493	T	A	13: 67,934,322 (GRCm39)	W60R	probably null	Het
Zfp606	A	T	7: 12,227,932 (GRCm39)	K626N	probably damaging	Het
Zfp820	A	T	17: 22,037,966 (GRCm39)	L454Q	probably benign	Het
Zswim5	A	G	4: 116,830,169 (GRCm39)	I515V	probably benign	Het

Other mutations in Dlg4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01753:Dlg4	APN	11	69,932,173 (GRCm39)	missense	probably damaging	1.00
IGL02260:Dlg4	APN	11	69,933,093 (GRCm39)	missense	probably damaging	1.00
IGL03097:Dlg4	UTSW	11	69,933,028 (GRCm39)	missense	probably damaging	1.00
R0103:Dlg4	UTSW	11	69,922,019 (GRCm39)	missense	probably damaging	1.00
R0103:Dlg4	UTSW	11	69,922,019 (GRCm39)	missense	probably damaging	1.00
R0628:Dlg4	UTSW	11	69,922,610 (GRCm39)	missense	probably damaging	1.00
R0734:Dlg4	UTSW	11	69,933,531 (GRCm39)	missense	probably damaging	1.00
R1587:Dlg4	UTSW	11	69,922,572 (GRCm39)	missense	possibly damaging	0.88
R1946:Dlg4	UTSW	11	69,930,401 (GRCm39)	missense	probably damaging	1.00
R2190:Dlg4	UTSW	11	69,933,430 (GRCm39)	missense	probably damaging	1.00
R2259:Dlg4	UTSW	11	69,922,196 (GRCm39)	missense	probably damaging	1.00
R2289:Dlg4	UTSW	11	69,917,752 (GRCm39)	missense	probably damaging	1.00
R2411:Dlg4	UTSW	11	69,932,755 (GRCm39)	critical splice donor site	probably null
R3161:Dlg4	UTSW	11	69,908,051 (GRCm39)	missense	probably damaging	0.99
R4059:Dlg4	UTSW	11	69,917,909 (GRCm39)	missense	probably benign
R4910:Dlg4	UTSW	11	69,921,751 (GRCm39)	missense	probably damaging	1.00
R5077:Dlg4	UTSW	11	69,917,852 (GRCm39)	missense	possibly damaging	0.71
R5557:Dlg4	UTSW	11	69,933,106 (GRCm39)	missense	probably damaging	1.00
R5996:Dlg4	UTSW	11	69,908,057 (GRCm39)	missense	probably benign	0.00
R6649:Dlg4	UTSW	11	69,914,779 (GRCm39)	unclassified	probably benign
R6653:Dlg4	UTSW	11	69,914,779 (GRCm39)	unclassified	probably benign
R7155:Dlg4	UTSW	11	69,908,042 (GRCm39)	start codon destroyed	probably null	0.00
R7284:Dlg4	UTSW	11	69,932,908 (GRCm39)	nonsense	probably null
R7683:Dlg4	UTSW	11	69,930,680 (GRCm39)	missense	possibly damaging	0.95
R7976:Dlg4	UTSW	11	69,930,008 (GRCm39)	missense	probably damaging	0.99
R8051:Dlg4	UTSW	11	69,922,468 (GRCm39)	unclassified	probably benign
R8408:Dlg4	UTSW	11	69,933,078 (GRCm39)	missense	possibly damaging	0.81
R8431:Dlg4	UTSW	11	69,930,388 (GRCm39)	missense	probably benign	0.36
R9283:Dlg4	UTSW	11	69,922,617 (GRCm39)	nonsense	probably null
R9451:Dlg4	UTSW	11	69,922,065 (GRCm39)	missense	probably damaging	1.00
Z1088:Dlg4	UTSW	11	69,921,956 (GRCm39)	missense	probably damaging	1.00
Z1176:Dlg4	UTSW	11	69,932,746 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTGGACTTGGGTAGAGATGAG -3'
(R):5'- TGTTTCCAGAGTCTAGCCCC -3'

Sequencing Primer
(F):5'- TGAGAGGTGCTGAGGCC -3'
(R):5'- ATTGCTGCAGCTCCGAG -3'

Posted On

2015-12-29