Mutagenetix > Incidental Mutation

Incidental Mutation 'R1946:Dlg4'

216703

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

039964-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69908029-69938107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69930401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 432 (Y432C)

Ref Sequence

ENSEMBL: ENSMUSP00000155973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018700] [ENSMUST00000108588] [ENSMUST00000108589] [ENSMUST00000123687] [ENSMUST00000132597] [ENSMUST00000231221] [ENSMUST00000231452] [ENSMUST00000231506] [ENSMUST00000231415] [ENSMUST00000231628]

AlphaFold

Q62108

Predicted Effect

probably damaging
Transcript: ENSMUST00000018700
AA Change: Y332C

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

SMART Domains

Protein: ENSMUSP00000018700
Gene: ENSMUSG00000020886
AA Change: Y332C

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

probably damaging
Transcript: ENSMUST00000108588
AA Change: Y392C

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

SMART Domains

Protein: ENSMUSP00000104229
Gene: ENSMUSG00000020886
AA Change: Y392C

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: Y435C

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

SMART Domains

Protein: ENSMUSP00000104230
Gene: ENSMUSG00000020886
AA Change: Y435C

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: Y435C

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134545
Gene: ENSMUSG00000020886
AA Change: Y435C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131497

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 benign
Transcript: ENSMUST00000231221

Predicted Effect

probably damaging
Transcript: ENSMUST00000231452
AA Change: Y332C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000231506
AA Change: Y432C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000231415
AA Change: Y389C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231628
AA Change: Y332C

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,039,551 (GRCm39)	S253P	probably damaging	Het
Adamts5	C	A	16: 85,696,131 (GRCm39)	C342F	probably damaging	Het
Adgrv1	C	T	13: 81,522,368 (GRCm39)	C5923Y	probably damaging	Het
Aen	G	C	7: 78,552,420 (GRCm39)	E32Q	probably damaging	Het
Apba2	T	C	7: 64,394,378 (GRCm39)		probably null	Het
Arhgap44	A	G	11: 64,902,922 (GRCm39)	M509T	probably damaging	Het
Arpc1b	A	G	5: 145,059,443 (GRCm39)	T56A	probably null	Het
Atoh1	T	C	6: 64,706,443 (GRCm39)	V46A	probably benign	Het
Bmpr2	T	C	1: 59,907,556 (GRCm39)	V883A	possibly damaging	Het
Bpifa1	A	T	2: 153,987,554 (GRCm39)	I135F	probably damaging	Het
Bsn	A	G	9: 107,991,850 (GRCm39)	F1301L	probably damaging	Het
Capn13	T	C	17: 73,657,520 (GRCm39)	E240G	possibly damaging	Het
Ccdc18	A	G	5: 108,376,861 (GRCm39)	E1434G	probably damaging	Het
Coq8b	G	A	7: 26,939,299 (GRCm39)	V150I	possibly damaging	Het
Cpn1	G	A	19: 43,944,957 (GRCm39)	T450M	probably benign	Het
Dnah8	C	A	17: 30,931,359 (GRCm39)	T1458K	probably benign	Het
Dock5	A	T	14: 68,023,765 (GRCm39)	M1132K	probably damaging	Het
Dsg2	A	G	18: 20,713,605 (GRCm39)	D192G	probably damaging	Het
F930017D23Rik	G	A	10: 43,469,440 (GRCm39)		noncoding transcript	Het
Fndc11	A	T	2: 180,863,627 (GRCm39)	D144V	probably benign	Het
Fut2	A	G	7: 45,300,748 (GRCm39)	F8S	probably damaging	Het
Gad2	A	T	2: 22,575,440 (GRCm39)	T515S	probably benign	Het
Ganab	T	A	19: 8,888,172 (GRCm39)	D439E	probably damaging	Het
Gm10228	C	A	16: 88,838,241 (GRCm39)	G21V	unknown	Het
Grm3	A	G	5: 9,562,123 (GRCm39)	W576R	probably damaging	Het
Gsdmc4	C	A	15: 63,774,629 (GRCm39)	D51Y	probably benign	Het
Hmcn2	T	C	2: 31,295,647 (GRCm39)	S2619P	probably damaging	Het
Kcnq2	T	A	2: 180,730,244 (GRCm39)	D446V	probably benign	Het
Kera	A	G	10: 97,445,009 (GRCm39)	K123E	probably benign	Het
Kmt2c	A	T	5: 25,520,152 (GRCm39)	V1986E	probably benign	Het
Lrp11	T	C	10: 7,499,540 (GRCm39)	Y244H	probably damaging	Het
Lrp1b	T	A	2: 40,555,159 (GRCm39)	D320V	unknown	Het
Lrrcc1	A	G	3: 14,615,453 (GRCm39)	R394G	probably benign	Het
Lrrk2	G	A	15: 91,620,864 (GRCm39)		probably null	Het
Map4k5	A	T	12: 69,892,529 (GRCm39)	D133E	probably damaging	Het
Megf11	A	T	9: 64,586,558 (GRCm39)	D461V	probably damaging	Het
Msrb3	A	G	10: 120,687,913 (GRCm39)	V54A	probably damaging	Het
Muc21	A	T	17: 35,933,416 (GRCm39)		probably benign	Het
Ncoa3	T	A	2: 165,901,097 (GRCm39)	N896K	possibly damaging	Het
Ncor2	G	A	5: 125,111,476 (GRCm39)	T1314I	probably damaging	Het
Nes	A	G	3: 87,885,821 (GRCm39)	Q1316R	possibly damaging	Het
Nfe2l3	A	C	6: 51,434,295 (GRCm39)	Q285P	probably damaging	Het
Nkd1	C	T	8: 89,318,745 (GRCm39)	H357Y	probably damaging	Het
Nmt2	T	A	2: 3,323,672 (GRCm39)	I355N	probably benign	Het
Or10ak11	T	C	4: 118,687,223 (GRCm39)	N139S	probably benign	Het
Or1n1b	A	T	2: 36,780,458 (GRCm39)	M134K	possibly damaging	Het
Or5ae1	T	C	7: 84,565,487 (GRCm39)	S167P	probably benign	Het
Or5b3	T	C	19: 13,388,143 (GRCm39)	V70A	possibly damaging	Het
Or7a38	T	A	10: 78,752,758 (GRCm39)	I28N	probably damaging	Het
Or8b3	T	A	9: 38,314,182 (GRCm39)	M1K	probably null	Het
Otx1	G	T	11: 21,948,482 (GRCm39)	T46K	probably damaging	Het
Panx1	A	G	9: 14,918,822 (GRCm39)	C346R	probably benign	Het
Pcdhb16	T	A	18: 37,611,952 (GRCm39)	L304*	probably null	Het
Plet1	A	G	9: 50,415,652 (GRCm39)		probably null	Het
Plod2	A	G	9: 92,489,188 (GRCm39)	S707G	probably damaging	Het
Plscr4	G	A	9: 92,365,889 (GRCm39)	V120I	probably damaging	Het
Ppp1r12b	A	G	1: 134,820,008 (GRCm39)	V245A	probably damaging	Het
Ppp2r2d	A	G	7: 138,470,196 (GRCm39)	D19G	probably damaging	Het
Pramel31	T	A	4: 144,088,435 (GRCm39)	V77E	probably benign	Het
Rimbp3	G	A	16: 17,028,291 (GRCm39)	V572I	probably benign	Het
Ror2	T	C	13: 53,285,885 (GRCm39)	I110V	probably damaging	Het
Sec24d	A	T	3: 123,147,043 (GRCm39)	H667L	probably benign	Het
Sema3d	A	G	5: 12,623,810 (GRCm39)	Q573R	probably damaging	Het
Snx19	T	A	9: 30,343,620 (GRCm39)	N593K	probably damaging	Het
Sulf1	T	C	1: 12,867,131 (GRCm39)	V105A	probably benign	Het
Syngr3	T	C	17: 24,906,680 (GRCm39)	N45S	probably benign	Het
Tenm4	A	T	7: 96,385,015 (GRCm39)	H524L	probably damaging	Het
Tex30	C	T	1: 44,130,564 (GRCm39)	G68D	probably damaging	Het
Tmem43	A	T	6: 91,463,891 (GRCm39)	I389F	probably benign	Het
Trpm1	A	T	7: 63,873,556 (GRCm39)	N488Y	probably damaging	Het
Usf2	T	C	7: 30,655,663 (GRCm39)	T1A	probably null	Het
Vill	A	T	9: 118,887,560 (GRCm39)	H108L	probably benign	Het
Vmn1r16	T	C	6: 57,299,885 (GRCm39)	I246V	probably benign	Het
Vmn1r188	T	G	13: 22,272,815 (GRCm39)	S256R	possibly damaging	Het
Zfp12	G	A	5: 143,231,133 (GRCm39)	E487K	probably damaging	Het
Zfp24	AC	A	18: 24,147,476 (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
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
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'- AAAGAGAGTCCTGTGCTCTTGG -3'
(R):5'- TCGGCTATACTCTGAGAAAGGAC -3'

Sequencing Primer
(F):5'- GGCTCAATGGGCTCAAGC -3'
(R):5'- CAAGAAGGTTCTGGAACTCTGCC -3'

Posted On

2014-08-01