Mutagenetix > Incidental Mutation

Incidental Mutation 'R2289:Dlg4'

244220

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

MMRRC Submission

040288-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2289 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69908029-69938107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69917752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 12 (Y12N)

Ref Sequence

ENSEMBL: ENSMUSP00000115206 (fasta)

Gene Model

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

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: Y12N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104229
Gene: ENSMUSG00000020886
AA Change: Y12N

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 damaging
Transcript: ENSMUST00000108589
AA Change: Y55N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104230
Gene: ENSMUSG00000020886
AA Change: Y55N

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: Y55N

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000134545
Gene: ENSMUSG00000020886
AA Change: Y55N

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: Y16N

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

SMART Domains

Protein: ENSMUSP00000121053
Gene: ENSMUSG00000020886
AA Change: Y16N

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: Y12N

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

SMART Domains

Protein: ENSMUSP00000115206
Gene: ENSMUSG00000020886
AA Change: Y12N

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 damaging
Transcript: ENSMUST00000231221
AA Change: Y12N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000231506
AA Change: Y55N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000231415
AA Change: Y12N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000232266

Predicted Effect

probably benign
Transcript: ENSMUST00000143920

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: 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: ENSMUST00000231452

Predicted Effect

probably benign
Transcript: ENSMUST00000232002

Predicted Effect

probably benign
Transcript: ENSMUST00000232115

Predicted Effect

probably benign
Transcript: ENSMUST00000232659

Predicted Effect

probably benign
Transcript: ENSMUST00000231628

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.0%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp12a	G	A	14: 56,610,719 (GRCm39)	V288I	possibly damaging	Het
Cntn6	C	T	6: 104,545,989 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cplx3	T	A	9: 57,520,941 (GRCm39)	E220V	possibly damaging	Het
Cracdl	T	C	1: 37,651,342 (GRCm39)	K1175R	possibly damaging	Het
Dcaf10	T	A	4: 45,359,816 (GRCm39)	W244R	probably damaging	Het
Dixdc1	A	G	9: 50,595,172 (GRCm39)		probably null	Het
Fsd1l	T	A	4: 53,696,931 (GRCm39)	Y442N	possibly damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Hcrt	C	A	11: 100,652,745 (GRCm39)	A90S	probably damaging	Het
Itga6	T	A	2: 71,648,873 (GRCm39)	V119D	probably damaging	Het
Klrh1	T	C	6: 129,745,140 (GRCm39)	N152S	probably null	Het
Lmtk2	T	A	5: 144,112,924 (GRCm39)	S1215T	possibly damaging	Het
Loxl2	G	A	14: 69,930,524 (GRCm39)	E763K	probably benign	Het
Mcrip1	T	C	11: 120,435,530 (GRCm39)	E35G	probably damaging	Het
Nle1	T	A	11: 82,793,879 (GRCm39)	I386F	probably benign	Het
Nqo1	T	C	8: 108,119,630 (GRCm39)	I8V	probably benign	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Pax8	T	C	2: 24,330,752 (GRCm39)	D227G	probably benign	Het
Phf14	T	C	6: 12,047,845 (GRCm39)	C885R	probably damaging	Het
Rhobtb3	A	C	13: 76,059,046 (GRCm39)	C251G	probably damaging	Het
Samd13	C	T	3: 146,368,446 (GRCm39)	A49T	probably damaging	Het
Snrpa1	T	A	7: 65,713,586 (GRCm39)	V101E	probably benign	Het
Styx	A	G	14: 45,592,404 (GRCm39)	E20G	possibly damaging	Het
Thoc1	T	C	18: 9,984,488 (GRCm39)	Y325H	probably damaging	Het
Tmem163	T	A	1: 127,423,477 (GRCm39)	T262S	possibly damaging	Het
Tsr1	T	G	11: 74,790,111 (GRCm39)	L102R	probably damaging	Het
Vash1	G	C	12: 86,726,952 (GRCm39)	R64P	probably damaging	Het
Vps13b	A	C	15: 35,572,251 (GRCm39)	D956A	probably damaging	Het
Vrk1	G	A	12: 106,024,120 (GRCm39)	G199S	probably damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zfp870	A	T	17: 33,102,334 (GRCm39)	S333T	probably benign	Het
Zranb1	T	C	7: 132,551,768 (GRCm39)	Y140H	probably damaging	Het
Zscan4b	A	G	7: 10,635,789 (GRCm39)		probably null	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
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
R4782:Dlg4	UTSW	11	69,917,780 (GRCm39)	missense	probably damaging	1.00
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

2014-10-30