Mutagenetix > Incidental Mutations

Incidental Mutation 'R4695:Dlg2'

355623

Institutional Source

Beutler Lab

Gene Symbol

Dlg2

Ensembl Gene

ENSMUSG00000052572

Gene Name

discs large MAGUK scaffold protein 2

Synonyms

Dlgh2, A330103J02Rik, Chapsyn-110, PSD93, B330007M19Rik, LOC382816, B230218P12Rik

MMRRC Submission

042016-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4695 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90476672-92449247 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 92437962 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155862 (fasta)

Gene Model

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

AlphaFold

Q91XM9

Predicted Effect

probably null
Transcript: ENSMUST00000074273

SMART Domains

Protein: ENSMUSP00000073885
Gene: ENSMUSG00000052572

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: ENSMUST00000074273

SMART Domains

Protein: ENSMUSP00000073885
Gene: ENSMUSG00000052572

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

SMART Domains

Protein: ENSMUSP00000095910
Gene: ENSMUSG00000052572

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

SMART Domains

Protein: ENSMUSP00000102811
Gene: ENSMUSG00000052572

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: ENSMUST00000107193

SMART Domains

Protein: ENSMUSP00000102811
Gene: ENSMUSG00000052572

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

SMART Domains

Protein: ENSMUSP00000102814
Gene: ENSMUSG00000052572

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: ENSMUST00000138389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207187

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207891

Predicted Effect

probably null
Transcript: ENSMUST00000231777

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
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. 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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	T	A	17: 33,531,739	M251K	possibly damaging	Het
Adcy2	A	T	13: 68,727,843	H513Q	possibly damaging	Het
Ahctf1	A	G	1: 179,753,054	L1861P	possibly damaging	Het
Apc2	C	A	10: 80,311,043	R615S	probably damaging	Het
Arhgap45	A	C	10: 80,025,530	D509A	probably damaging	Het
Atp6v1c2	T	C	12: 17,301,207	T108A	probably benign	Het
Blm	T	A	7: 80,494,228	D821V	probably damaging	Het
C3	T	A	17: 57,221,057	I721L	probably benign	Het
Ccdc13	A	T	9: 121,820,760	V207E	probably damaging	Het
Ccndbp1	C	T	2: 121,014,727		probably benign	Het
Cd180	A	C	13: 102,705,760	Q438P	probably benign	Het
Cd248	C	T	19: 5,068,445	T107M	probably damaging	Het
Cdan1	G	A	2: 120,728,383	R445C	probably damaging	Het
Cic	C	A	7: 25,273,588	H915N	possibly damaging	Het
Cox8c	T	C	12: 102,899,483	S40P	possibly damaging	Het
Cyp2d34	A	T	15: 82,616,891	C347S	probably benign	Het
Dhx30	A	T	9: 110,085,288	F974I	probably damaging	Het
Dlec1	A	T	9: 119,143,153	T1414S	probably benign	Het
Dzip1l	T	A	9: 99,647,205	M329K	probably benign	Het
Dzip3	A	T	16: 48,951,561	L582I	probably damaging	Het
Emilin2	T	C	17: 71,252,778	Y1068C	probably damaging	Het
Fam221b	T	A	4: 43,659,622		probably null	Het
Fbxw22	A	G	9: 109,378,871	I444T	probably damaging	Het
Flnc	T	A	6: 29,440,429	N245K	probably damaging	Het
Fnip1	T	A	11: 54,499,419	I380N	probably damaging	Het
Gbf1	C	T	19: 46,259,167	R181*	probably null	Het
Igkv6-17	T	A	6: 70,371,502	F12I	probably benign	Het
Itln1	C	A	1: 171,531,077	G174V	probably damaging	Het
Lrrc52	A	G	1: 167,466,091		probably null	Het
Matn2	A	G	15: 34,402,925	Y432C	probably damaging	Het
Metap1d	A	G	2: 71,524,961	*336W	probably null	Het
Mgam2-ps	T	A	6: 40,802,555		noncoding transcript	Het
Mrps9	T	A	1: 42,862,515	V61D	possibly damaging	Het
Myh7b	T	C	2: 155,614,177	Y161H	probably damaging	Het
Myh9	T	A	15: 77,768,853	D1428V	probably damaging	Het
N4bp3	A	T	11: 51,644,479		probably null	Het
Nat9	T	A	11: 115,184,590	Q75L	probably benign	Het
Nop2	T	C	6: 125,144,556	V767A	probably benign	Het
Ntrk2	A	G	13: 59,126,493	K728E	probably damaging	Het
Olfr497	G	A	7: 108,422,989	M139I	probably benign	Het
Olfr558	T	G	7: 102,709,557	C99W	probably damaging	Het
Olfr836	T	A	9: 19,121,010	H15Q	probably null	Het
Oraov1	T	C	7: 144,928,978		probably null	Het
Pcdhgb2	A	G	18: 37,692,322	T789A	probably benign	Het
Pcyt2	T	C	11: 120,611,174	D321G	probably benign	Het
Rad9a	G	A	19: 4,200,561	R85C	probably damaging	Het
Rbbp8	A	T	18: 11,721,782	K355*	probably null	Het
Rhag	T	C	17: 40,836,467	Y407H	probably damaging	Het
Robo4	G	A	9: 37,403,199	V161M	probably damaging	Het
Rpl27-ps3	C	A	18: 6,332,922	N97K	probably benign	Het
Slc45a4	A	G	15: 73,582,075	I691T	possibly damaging	Het
Slc9a9	A	T	9: 94,936,449		probably benign	Het
Spata5	T	G	3: 37,458,325	F713C	probably damaging	Het
Stard13	A	G	5: 151,060,815	F619L	probably benign	Het
Stt3b	A	T	9: 115,254,794	V438E	probably damaging	Het
Tacr3	C	T	3: 134,829,421	T50I	probably benign	Het
Tacr3	G	T	3: 134,929,929	C298F	probably damaging	Het
Taok3	C	T	5: 117,228,066	T394M	probably benign	Het
Tctex1d1	T	A	4: 103,004,229	I136K	probably damaging	Het
Tgfb1i1	A	G	7: 128,249,176	D128G	probably damaging	Het
Tgfbr3l	G	T	8: 4,250,574	V251L	probably benign	Het
Tom1l2	C	G	11: 60,270,433	R84P	probably damaging	Het
Top3a	A	G	11: 60,742,412	S953P	probably benign	Het
Trappc10	T	C	10: 78,197,863	K957E	probably damaging	Het
Ttn	T	A	2: 76,735,324	E28228V	probably damaging	Het
Ttn	T	A	2: 76,754,824	I22042F	probably damaging	Het
Vdr	A	T	15: 97,858,920		probably null	Het
Zfp42	A	T	8: 43,296,131	L111Q	probably damaging	Het

Other mutations in Dlg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Dlg2	APN	7	91965645	missense	probably damaging	1.00
IGL01111:Dlg2	APN	7	91449763	missense	possibly damaging	0.84
IGL01122:Dlg2	APN	7	92442608	missense	possibly damaging	0.58
IGL01296:Dlg2	APN	7	91940059	missense	probably damaging	1.00
IGL02063:Dlg2	APN	7	91810476	splice site	probably benign
IGL02233:Dlg2	APN	7	92444538	missense	probably damaging	1.00
IGL02519:Dlg2	APN	7	91940115	missense	possibly damaging	0.54
IGL02833:Dlg2	APN	7	92431127	missense	probably damaging	1.00
IGL03166:Dlg2	APN	7	91900730	splice site	probably benign
R0932:Dlg2	UTSW	7	92375637	missense	probably damaging	1.00
R1129:Dlg2	UTSW	7	92431174	splice site	probably null
R1245:Dlg2	UTSW	7	92442595	splice site	probably benign
R1319:Dlg2	UTSW	7	92438023	missense	probably damaging	0.98
R1464:Dlg2	UTSW	7	91968198	missense	probably damaging	1.00
R1464:Dlg2	UTSW	7	91968198	missense	probably damaging	1.00
R1596:Dlg2	UTSW	7	92431051	missense	probably damaging	0.99
R1650:Dlg2	UTSW	7	92431051	missense	probably damaging	0.99
R1868:Dlg2	UTSW	7	92386952	nonsense	probably null
R2006:Dlg2	UTSW	7	91965617	missense	possibly damaging	0.95
R2026:Dlg2	UTSW	7	91965723	missense	probably damaging	1.00
R2281:Dlg2	UTSW	7	92438041	missense	probably damaging	1.00
R3721:Dlg2	UTSW	7	91711800	critical splice donor site	probably null
R3722:Dlg2	UTSW	7	91711800	critical splice donor site	probably null
R3793:Dlg2	UTSW	7	91810535	splice site	probably benign
R4120:Dlg2	UTSW	7	91965638	missense	probably damaging	1.00
R4444:Dlg2	UTSW	7	92088593	missense	probably damaging	1.00
R4631:Dlg2	UTSW	7	92088614	missense	probably damaging	1.00
R4672:Dlg2	UTSW	7	92286535	missense	probably damaging	1.00
R4678:Dlg2	UTSW	7	92428580	missense	possibly damaging	0.89
R5106:Dlg2	UTSW	7	92442686	missense	probably damaging	0.99
R5355:Dlg2	UTSW	7	91449803	missense	probably benign	0.41
R5385:Dlg2	UTSW	7	92088576	missense	probably damaging	0.96
R5403:Dlg2	UTSW	7	92431002	missense	probably damaging	1.00
R5504:Dlg2	UTSW	7	92442657	missense	probably damaging	1.00
R5569:Dlg2	UTSW	7	91968180	missense	probably benign	0.01
R5573:Dlg2	UTSW	7	91997324	splice site	probably null
R5848:Dlg2	UTSW	7	92444527	missense	probably benign	0.41
R5863:Dlg2	UTSW	7	91711779	missense	probably benign	0.01
R5907:Dlg2	UTSW	7	91997371	intron	probably benign
R6455:Dlg2	UTSW	7	92444508	splice site	probably null
R6486:Dlg2	UTSW	7	91872374	critical splice acceptor site	probably null
R6817:Dlg2	UTSW	7	91965664	missense	probably benign	0.07
R7082:Dlg2	UTSW	7	90731984	missense	probably benign
R7667:Dlg2	UTSW	7	92438156	splice site	probably null
R7808:Dlg2	UTSW	7	92431055	missense	probably benign	0.01
R7818:Dlg2	UTSW	7	91940017	missense	probably damaging	0.99
R7908:Dlg2	UTSW	7	91900773	missense	probably damaging	1.00
R7969:Dlg2	UTSW	7	92417258	missense	probably benign	0.22
R8157:Dlg2	UTSW	7	92386932	missense	probably damaging	1.00
R8174:Dlg2	UTSW	7	91940040	missense	probably benign	0.00
R8344:Dlg2	UTSW	7	92438014	missense	possibly damaging	0.84
R8428:Dlg2	UTSW	7	91091032	missense	possibly damaging	0.66
R8443:Dlg2	UTSW	7	92375667	missense	probably damaging	1.00
R8463:Dlg2	UTSW	7	91968233	missense	probably benign	0.16
R8487:Dlg2	UTSW	7	92286588	missense	probably damaging	1.00
R8501:Dlg2	UTSW	7	92375722	missense	probably damaging	1.00
R8894:Dlg2	UTSW	7	91965738	missense	probably benign	0.31
R8959:Dlg2	UTSW	7	90852719	nonsense	probably null
R9130:Dlg2	UTSW	7	92431050	missense	probably damaging	0.99
R9347:Dlg2	UTSW	7	91711692	missense	probably benign	0.00
R9424:Dlg2	UTSW	7	92431117	missense	probably damaging	0.99
RF004:Dlg2	UTSW	7	90852677	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGGGTCATTGGTCAATAGTCAC -3'
(R):5'- ACAAACTGCTGTTGCTTGCTG -3'

Sequencing Primer
(F):5'- GGTCATTGGTCAATAGTCACTAAGG -3'
(R):5'- CTGTGTGTTCAGAGCAGGGTTC -3'

Posted On

2015-10-21