Mutagenetix > Incidental Mutation

Incidental Mutation 'R4678:Dlg2'

349763

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

041931-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4678 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90125880-92098455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92077788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 685 (I685V)

Ref Sequence

ENSEMBL: ENSMUSP00000073885 (fasta)

Gene Model

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

AlphaFold

Q91XM9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074273
AA Change: I685V

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073885
Gene: ENSMUSG00000052572
AA Change: I685V

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 benign
Transcript: ENSMUST00000098308
AA Change: I296V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000095910
Gene: ENSMUSG00000052572
AA Change: I296V

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

possibly damaging
Transcript: ENSMUST00000107193
AA Change: I570V

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102811
Gene: ENSMUSG00000052572
AA Change: I570V

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 benign
Transcript: ENSMUST00000107196
AA Change: I667V

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

SMART Domains

Protein: ENSMUSP00000102814
Gene: ENSMUSG00000052572
AA Change: I667V

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: ENSMUST00000207187

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208377

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207798

Predicted Effect

probably benign
Transcript: ENSMUST00000231777
AA Change: I772V

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.1%

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. 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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	T	C	16: 88,860,873 (GRCm39)		probably benign	Het
Abcc4	A	G	14: 118,865,103 (GRCm39)	S308P	probably damaging	Het
Agr3	G	T	12: 35,997,832 (GRCm39)	V115L	probably damaging	Het
Ahr	A	T	12: 35,557,463 (GRCm39)	I319N	probably damaging	Het
Alpk1	A	T	3: 127,473,507 (GRCm39)	V832D	probably damaging	Het
Ano1	T	C	7: 144,223,289 (GRCm39)	T78A	probably benign	Het
Apob	G	A	12: 8,045,585 (GRCm39)	G897D	probably damaging	Het
Arfgef1	A	G	1: 10,212,891 (GRCm39)	F1677L	probably benign	Het
Arhgap40	G	T	2: 158,374,226 (GRCm39)	G217W	probably benign	Het
Arhgef4	A	G	1: 34,761,749 (GRCm39)	E335G	unknown	Het
Calcoco2	T	C	11: 95,994,374 (GRCm39)	T60A	probably damaging	Het
Catsperg1	A	T	7: 28,889,721 (GRCm39)	S741T	probably benign	Het
Ccdc181	T	G	1: 164,105,846 (GRCm39)	I27S	probably damaging	Het
Ceacam9	A	T	7: 16,459,334 (GRCm39)	Y211F	probably damaging	Het
Cep41	T	C	6: 30,671,318 (GRCm39)		probably null	Het
Cercam	T	A	2: 29,759,689 (GRCm39)	L45Q	probably damaging	Het
Cnnm2	G	A	19: 46,751,685 (GRCm39)	V492M	possibly damaging	Het
Cntn3	A	G	6: 102,180,981 (GRCm39)	V738A	probably damaging	Het
Coq8a	T	C	1: 179,997,646 (GRCm39)	E351G	probably damaging	Het
Cyp3a57	T	C	5: 145,307,538 (GRCm39)		probably null	Het
Dbn1	T	C	13: 55,623,071 (GRCm39)	I471V	probably benign	Het
Ddx21	G	T	10: 62,429,782 (GRCm39)	Q321K	probably benign	Het
Dhx8	T	C	11: 101,630,634 (GRCm39)	V347A	probably damaging	Het
Dkc1	A	G	X: 74,144,598 (GRCm39)	I215V	probably benign	Homo
Dusp11	A	C	6: 85,930,363 (GRCm39)	N140K	probably damaging	Het
Ece2	A	G	16: 20,459,468 (GRCm39)	K454R	probably damaging	Het
Eno4	T	A	19: 58,935,181 (GRCm39)	V131E	probably damaging	Het
Enpep	A	G	3: 129,097,362 (GRCm39)		probably null	Het
Etv1	T	C	12: 38,885,219 (GRCm39)	Y236H	probably damaging	Het
F2rl2	A	G	13: 95,837,140 (GRCm39)	T62A	probably benign	Het
Fbxl21	T	C	13: 56,684,862 (GRCm39)	V296A	probably damaging	Het
Fig4	T	C	10: 41,148,994 (GRCm39)	I153V	probably benign	Het
Fis1	T	A	5: 136,991,951 (GRCm39)	N41K	possibly damaging	Het
Fras1	T	A	5: 96,848,427 (GRCm39)	M1814K	probably benign	Het
Frem2	T	A	3: 53,451,792 (GRCm39)	I2266F	probably benign	Het
Gm10330	A	T	12: 23,829,843 (GRCm39)	*113R	probably null	Het
Gm12185	T	A	11: 48,806,367 (GRCm39)	I275F	probably benign	Het
Gsdme	A	T	6: 50,206,304 (GRCm39)	C180S	possibly damaging	Het
Herc1	A	G	9: 66,323,551 (GRCm39)	E1355G	probably benign	Het
Hnrnpm	A	T	17: 33,869,185 (GRCm39)	I453N	possibly damaging	Het
Hspb9	T	C	11: 100,604,896 (GRCm39)	L74P	probably damaging	Het
Ift46	C	A	9: 44,695,260 (GRCm39)	Y85*	probably null	Het
Insyn2b	T	G	11: 34,353,227 (GRCm39)	L423R	probably damaging	Het
Ints3	T	C	3: 90,315,817 (GRCm39)	T316A	possibly damaging	Het
Isg20	C	T	7: 78,564,076 (GRCm39)		probably benign	Het
Itga11	T	A	9: 62,642,639 (GRCm39)	N187K	probably damaging	Het
Klhl9	G	A	4: 88,639,161 (GRCm39)	T360I	probably damaging	Het
Krt39	T	A	11: 99,411,826 (GRCm39)	I87F	probably benign	Het
Krtap19-4	G	A	16: 88,681,734 (GRCm39)	S74F	unknown	Het
Lgi1	G	A	19: 38,289,737 (GRCm39)	V268I	probably damaging	Het
Lrrc46	G	A	11: 96,925,719 (GRCm39)	P248S	probably benign	Het
Lrrn4	C	T	2: 132,721,488 (GRCm39)	V110I	probably benign	Het
Mamstr	C	A	7: 45,294,116 (GRCm39)		probably benign	Het
Micu3	T	A	8: 40,833,718 (GRCm39)	F451I	probably damaging	Het
Mid1	C	A	X: 168,768,044 (GRCm39)	D130E	possibly damaging	Het
Mkks	T	C	2: 136,722,201 (GRCm39)	T319A	probably benign	Het
Mob3c	A	G	4: 115,690,968 (GRCm39)		probably null	Het
Muc6	T	C	7: 141,230,554 (GRCm39)	E1192G	probably benign	Het
Ndc80	A	G	17: 71,827,753 (GRCm39)		probably null	Het
Nfx1	A	G	4: 41,012,070 (GRCm39)	K807E	probably benign	Het
Nrxn1	A	T	17: 90,930,850 (GRCm39)	L181Q	probably damaging	Het
Nsun7	A	G	5: 66,418,407 (GRCm39)	S46G	probably benign	Het
Nup98	A	T	7: 101,834,038 (GRCm39)	L308H	probably damaging	Het
Or4c115	C	A	2: 88,927,860 (GRCm39)	W137L	probably benign	Het
Or52j3	T	C	7: 102,836,098 (GRCm39)	F97L	probably damaging	Het
Or6f2	T	C	7: 139,756,141 (GRCm39)	V36A	probably benign	Het
Or8k32	T	C	2: 86,369,077 (GRCm39)	M61V	possibly damaging	Het
Palb2	T	C	7: 121,726,589 (GRCm39)	K427R	probably damaging	Het
Pcdha1	C	A	18: 37,063,965 (GRCm39)	Q210K	probably benign	Het
Pcdhb2	T	C	18: 37,429,260 (GRCm39)	L411P	probably damaging	Het
Pde4dip	C	A	3: 97,602,321 (GRCm39)	D2252Y	probably damaging	Het
Plekhg4	T	A	8: 106,107,003 (GRCm39)	Y899*	probably null	Het
Plxnb2	G	T	15: 89,045,131 (GRCm39)	T1105K	probably benign	Het
Psmd2	T	C	16: 20,478,719 (GRCm39)	V606A	probably damaging	Het
Ptprq	A	T	10: 107,521,043 (GRCm39)	F710I	probably benign	Het
Rad51ap2	A	G	12: 11,506,552 (GRCm39)	E158G	probably damaging	Het
Rasip1	T	A	7: 45,277,247 (GRCm39)	H18Q	possibly damaging	Het
Rassf8	A	G	6: 145,760,808 (GRCm39)	K45E	probably damaging	Het
Rrn3	T	A	16: 13,613,940 (GRCm39)	M284K	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rtn2	C	A	7: 19,027,820 (GRCm39)	N403K	probably damaging	Het
Rusc1	A	G	3: 88,997,027 (GRCm39)	W462R	probably damaging	Het
Sdc3	T	A	4: 130,545,907 (GRCm39)		probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc12a2	T	A	18: 58,039,032 (GRCm39)	C537*	probably null	Het
Slc4a2	G	A	5: 24,639,238 (GRCm39)		probably null	Het
Spsb4	T	A	9: 96,877,744 (GRCm39)	D193V	probably damaging	Het
Strn	A	C	17: 78,984,780 (GRCm39)	F288V	probably damaging	Het
Stx18	G	A	5: 38,293,712 (GRCm39)		probably benign	Het
Tfcp2l1	T	A	1: 118,596,378 (GRCm39)	M371K	probably benign	Het
Thnsl1	A	G	2: 21,216,352 (GRCm39)		probably null	Het
Tlr11	C	T	14: 50,598,439 (GRCm39)	H142Y	possibly damaging	Het
Tor1aip2	T	A	1: 155,940,780 (GRCm39)	I362K	probably damaging	Het
Trmt13	T	C	3: 116,383,404 (GRCm39)	K125E	probably damaging	Het
Trpm8	T	C	1: 88,264,851 (GRCm39)	V320A	probably benign	Het
Ubr3	A	T	2: 69,766,263 (GRCm39)	H377L	probably damaging	Het
Usp8	A	G	2: 126,567,349 (GRCm39)	R123G	probably null	Het
Vim	T	A	2: 13,579,775 (GRCm39)	L178Q	probably damaging	Het
Vmn1r231	A	C	17: 21,110,489 (GRCm39)	V142G	possibly damaging	Het
Vmn1r83	A	G	7: 12,055,697 (GRCm39)	M120T	possibly damaging	Het
Vwce	G	T	19: 10,642,012 (GRCm39)	V913F	possibly damaging	Het
Zbtb18	C	A	1: 177,275,285 (GRCm39)	T215K	probably benign	Het
Zeb2	A	T	2: 44,886,353 (GRCm39)	D857E	probably damaging	Het
Zfp106	G	A	2: 120,364,221 (GRCm39)	H729Y	probably damaging	Het
Zfp977	C	A	7: 42,229,437 (GRCm39)	A363S	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
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'- CATGCTGAGGGCTAAACATGC -3'
(R):5'- TGACATGCGAATCACACCAG -3'

Sequencing Primer
(F):5'- GCTGAGGGCTAAACATGCATTTC -3'
(R):5'- TGCGAATCACACCAGAGATTCTTCTC -3'

Posted On

2015-10-08