Mutagenetix > Incidental Mutation

Incidental Mutation 'R1868:Dlg2'

208951

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

039890-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1868 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90125880-92098455 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 92036160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 719 (K719*)

Ref Sequence

ENSEMBL: ENSMUSP00000155862 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074273] [ENSMUST00000098308] [ENSMUST00000107193] [ENSMUST00000107196] [ENSMUST00000231777]

AlphaFold

Q91XM9

Predicted Effect

probably null
Transcript: ENSMUST00000074273
AA Change: K614*

SMART Domains

Protein: ENSMUSP00000073885
Gene: ENSMUSG00000052572
AA Change: K614*

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 null
Transcript: ENSMUST00000098308
AA Change: K211*

SMART Domains

Protein: ENSMUSP00000095910
Gene: ENSMUSG00000052572
AA Change: K211*

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 null
Transcript: ENSMUST00000107193
AA Change: K517*

SMART Domains

Protein: ENSMUSP00000102811
Gene: ENSMUSG00000052572
AA Change: K517*

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 null
Transcript: ENSMUST00000107196
AA Change: K614*

SMART Domains

Protein: ENSMUSP00000102814
Gene: ENSMUSG00000052572
AA Change: K614*

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: ENSMUST00000135581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208377

Predicted Effect

probably null
Transcript: ENSMUST00000231777
AA Change: K719*

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

97% (115/118)

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	T	5: 66,157,560 (GRCm39)	M1K	probably null	Het
A630073D07Rik	C	T	6: 132,603,457 (GRCm39)	E100K	unknown	Het
Abcc3	T	G	11: 94,254,889 (GRCm39)	D638A	probably benign	Het
Acadm	T	C	3: 153,635,889 (GRCm39)	I272V	probably benign	Het
Adam2	G	A	14: 66,315,107 (GRCm39)	T22I	probably damaging	Het
Aldh3b1	G	A	19: 3,971,271 (GRCm39)		probably benign	Het
Arfgef3	A	T	10: 18,537,135 (GRCm39)	I182K	probably benign	Het
Arhgef17	A	G	7: 100,528,184 (GRCm39)	S677P	probably benign	Het
Atp2b1	T	C	10: 98,832,750 (GRCm39)	V417A	probably damaging	Het
Brca1	T	A	11: 101,388,839 (GRCm39)	H1675L	probably benign	Het
Brd10	A	T	19: 29,720,998 (GRCm39)	S743T	probably damaging	Het
Btd	G	T	14: 31,389,266 (GRCm39)	G329V	probably benign	Het
Capsl	T	A	15: 9,461,916 (GRCm39)	L104*	probably null	Het
Cbx1	T	C	11: 96,693,554 (GRCm39)	S107P	probably benign	Het
Cd207	G	T	6: 83,648,683 (GRCm39)	Y326*	probably null	Het
Cenpp	T	C	13: 49,794,759 (GRCm39)	D136G	probably damaging	Het
Chsy3	A	G	18: 59,309,560 (GRCm39)		probably null	Het
Cntrl	T	A	2: 35,019,827 (GRCm39)	H551Q	probably benign	Het
Col14a1	T	A	15: 55,310,858 (GRCm39)		probably benign	Het
Cybrd1	T	A	2: 70,967,978 (GRCm39)	F183Y	possibly damaging	Het
D5Ertd579e	G	A	5: 36,773,771 (GRCm39)	S208L	probably damaging	Het
Dppa1	A	T	11: 46,516,393 (GRCm39)		probably null	Het
Dse	A	G	10: 34,029,284 (GRCm39)	V602A	possibly damaging	Het
Elapor2	T	A	5: 9,529,251 (GRCm39)	I1028K	probably damaging	Het
Elmo1	C	T	13: 20,773,823 (GRCm39)	A611V	possibly damaging	Het
Ets2	T	C	16: 95,516,118 (GRCm39)	S233P	probably benign	Het
Fchsd2	G	A	7: 100,899,645 (GRCm39)		probably benign	Het
Fhip2a	T	C	19: 57,374,737 (GRCm39)	I704T	possibly damaging	Het
Fkbp4	T	C	6: 128,409,453 (GRCm39)	R402G	probably benign	Het
G2e3	T	A	12: 51,400,412 (GRCm39)	D21E	probably benign	Het
Gask1a	A	G	9: 121,794,493 (GRCm39)	T216A	possibly damaging	Het
Gck	A	T	11: 5,852,165 (GRCm39)	N391K	probably damaging	Het
Gm11077	T	A	6: 140,675,017 (GRCm39)	I3N	unknown	Het
Gm6793	T	C	8: 112,741,088 (GRCm39)	M185V	probably benign	Het
Gucy2d	T	A	7: 98,103,268 (GRCm39)	L504H	probably damaging	Het
Hat1	T	A	2: 71,251,627 (GRCm39)	Y225*	probably null	Het
Iars2	A	T	1: 185,050,765 (GRCm39)	D441E	probably benign	Het
Ido2	C	A	8: 25,043,776 (GRCm39)	M92I	possibly damaging	Het
Ifne	T	C	4: 88,797,908 (GRCm39)	E170G	probably damaging	Het
Ints8	C	A	4: 11,241,684 (GRCm39)	C253F	probably damaging	Het
Intu	G	T	3: 40,618,765 (GRCm39)	G257V	probably damaging	Het
Jakmip3	A	G	7: 138,609,316 (GRCm39)	K140R	probably benign	Het
Kcnip3	T	C	2: 127,301,263 (GRCm39)	E237G	probably damaging	Het
Ksr2	A	C	5: 117,643,594 (GRCm39)	E121A	probably benign	Het
Lars1	T	A	18: 42,347,902 (GRCm39)	I974F	probably benign	Het
Lce1b	A	G	3: 92,563,318 (GRCm39)	S72P	unknown	Het
Lhfpl4	T	A	6: 113,153,394 (GRCm39)	D125V	probably benign	Het
Luc7l	G	A	17: 26,499,030 (GRCm39)		probably benign	Het
Mei1	T	C	15: 82,009,154 (GRCm39)	L833P	probably damaging	Het
Mier2	A	G	10: 79,384,664 (GRCm39)	V150A	probably damaging	Het
Muc4	C	T	16: 32,576,715 (GRCm39)	R2072C	unknown	Het
Myh3	A	G	11: 66,975,852 (GRCm39)	K295E	probably benign	Het
Ndufaf5	A	G	2: 140,023,509 (GRCm39)	I115V	probably benign	Het
Neb	T	C	2: 52,216,756 (GRCm39)	K140E	probably damaging	Het
Niban1	A	G	1: 151,517,302 (GRCm39)	S104G	possibly damaging	Het
Npas2	A	G	1: 39,339,759 (GRCm39)	D103G	probably benign	Het
Ntrk3	A	T	7: 77,842,352 (GRCm39)	H825Q	possibly damaging	Het
Nup62	T	A	7: 44,478,472 (GRCm39)	S162R	possibly damaging	Het
Or4c108	T	C	2: 88,804,128 (GRCm39)	T36A	possibly damaging	Het
Or5g23	T	A	2: 85,438,409 (GRCm39)	I282F	probably damaging	Het
Or5t7	G	A	2: 86,507,629 (GRCm39)	T16I	possibly damaging	Het
Or8c8	A	G	9: 38,164,986 (GRCm39)	E91G	probably damaging	Het
Orc4	A	G	2: 48,800,305 (GRCm39)	M281T	probably benign	Het
Osbpl5	C	A	7: 143,269,510 (GRCm39)	R22L	probably damaging	Het
Otos	A	G	1: 92,572,185 (GRCm39)	F47S	probably damaging	Het
Parp11	A	G	6: 127,447,740 (GRCm39)	T25A	probably damaging	Het
Pcdhb9	A	C	18: 37,535,137 (GRCm39)	D377A	probably damaging	Het
Pdgfra	C	T	5: 75,331,534 (GRCm39)	S348L	probably benign	Het
Pdlim5	C	A	3: 142,012,060 (GRCm39)		probably null	Het
Peg12	T	C	7: 62,113,416 (GRCm39)	H227R	probably benign	Het
Piezo2	T	C	18: 63,152,415 (GRCm39)	E2559G	probably damaging	Het
Pnisr	C	T	4: 21,874,086 (GRCm39)		probably benign	Het
Ppa2	A	T	3: 133,053,858 (GRCm39)	I183F	probably damaging	Het
Pramel48	T	A	5: 95,630,758 (GRCm39)	Y212N	probably benign	Het
Prl2a1	T	C	13: 27,988,923 (GRCm39)	L16P	probably damaging	Het
Rai14	C	A	15: 10,633,314 (GRCm39)	Q25H	probably damaging	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Rbm34	C	A	8: 127,697,631 (GRCm39)	A27S	probably benign	Het
Rchy1	T	C	5: 92,099,762 (GRCm39)	D192G	probably damaging	Het
Rexo1	T	C	10: 80,378,754 (GRCm39)	D1094G	probably damaging	Het
Rtl1	T	A	12: 109,556,970 (GRCm39)	D1623V	probably damaging	Het
Ryr2	C	T	13: 11,746,586 (GRCm39)	E1989K	probably benign	Het
Sema6c	A	G	3: 95,078,124 (GRCm39)	E500G	probably damaging	Het
Slc13a1	T	A	6: 24,117,999 (GRCm39)	Y246F	probably damaging	Het
Slc39a9	C	T	12: 80,726,297 (GRCm39)	L249F	probably damaging	Het
Slc6a21	C	T	7: 44,937,252 (GRCm39)	P261S	probably benign	Het
Slco2b1	C	T	7: 99,335,243 (GRCm39)	C179Y	probably damaging	Het
Sox6	T	C	7: 115,258,773 (GRCm39)	N252S	possibly damaging	Het
Spr-ps1	C	T	6: 85,132,885 (GRCm39)		noncoding transcript	Het
Sptbn1	C	A	11: 30,064,781 (GRCm39)	R1906L	possibly damaging	Het
Stac2	T	C	11: 97,943,771 (GRCm39)	D13G	probably benign	Het
Stat5a	G	T	11: 100,764,955 (GRCm39)	R226L	probably damaging	Het
Suz12	A	G	11: 79,904,425 (GRCm39)		probably null	Het
Tas2r144	C	A	6: 42,192,936 (GRCm39)	H225Q	probably benign	Het
Tdo2	T	A	3: 81,867,853 (GRCm39)	M331L	probably benign	Het
Tesk1	T	C	4: 43,447,201 (GRCm39)	W530R	probably damaging	Het
Tlr6	T	C	5: 65,112,172 (GRCm39)	N245S	probably benign	Het
Tnfrsf11a	G	T	1: 105,772,431 (GRCm39)	A573S	probably damaging	Het
Tpbpb	A	T	13: 61,050,344 (GRCm39)		probably benign	Het
Trim24	T	A	6: 37,928,447 (GRCm39)	S590T	probably damaging	Het
Ttll3	G	T	6: 113,369,725 (GRCm39)	A90S	possibly damaging	Het
Ubr5	A	T	15: 38,042,090 (GRCm39)	S169T	probably benign	Het
Usp28	T	C	9: 48,928,007 (GRCm39)	V363A	probably damaging	Het
Vcan	A	G	13: 89,838,990 (GRCm39)	S2185P	probably benign	Het
Vmn1r211	T	C	13: 23,035,779 (GRCm39)	H296R	probably benign	Het
Vmn2r3	G	A	3: 64,166,537 (GRCm39)	P865S	probably damaging	Het
Wapl	A	G	14: 34,414,415 (GRCm39)	T426A	probably benign	Het
Wdr37	G	T	13: 8,886,887 (GRCm39)	T300K	probably damaging	Het
Wrap53	A	T	11: 69,452,990 (GRCm39)	V439E	probably null	Het
Wrn	A	G	8: 33,747,249 (GRCm39)	S868P	probably benign	Het
Zfhx4	A	G	3: 5,477,774 (GRCm39)	E3463G	probably damaging	Het
Zfp189	T	A	4: 49,529,283 (GRCm39)	C129S	possibly damaging	Het
Zfp442	T	C	2: 150,250,100 (GRCm39)	K544E	probably damaging	Het
Zfp939	T	A	7: 39,122,728 (GRCm39)		noncoding transcript	Het
Zfyve26	T	C	12: 79,308,573 (GRCm39)	H228R	possibly damaging	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
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
R5504:Dlg2	UTSW	7	92,091,865 (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'- CCAGAGTAAGTAGACCATTCTAGAC -3'
(R):5'- GGCTTTGTCCCCAGTAATTAATATG -3'

Sequencing Primer
(F):5'- TGCCTTGTCACTTAATTGG -3'
(R):5'- CCCACTTTATCAGGAATGACATTAC -3'

Posted On

2014-06-30