Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01296:Dlg2'

73140

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dlg2

Ensembl Gene

ENSMUSG00000052572

Gene Name

discs large MAGUK scaffold protein 2

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01296

Quality Score

Status

Chromosome

Chromosomal Location

90476672-92449247 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91940059 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 327 (I327N)

Ref Sequence

ENSEMBL: ENSMUSP00000155862 (fasta)

Gene Model

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

AlphaFold

Q91XM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000074273
AA Change: I222N

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

SMART Domains

Protein: ENSMUSP00000073885
Gene: ENSMUSG00000052572
AA Change: I222N

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 damaging
Transcript: ENSMUST00000107193
AA Change: I177N

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

SMART Domains

Protein: ENSMUSP00000102811
Gene: ENSMUSG00000052572
AA Change: I177N

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 damaging
Transcript: ENSMUST00000107196
AA Change: I222N

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

SMART Domains

Protein: ENSMUSP00000102814
Gene: ENSMUSG00000052572
AA Change: I222N

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: ENSMUST00000128592

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152139

Predicted Effect

probably damaging
Transcript: ENSMUST00000231777
AA Change: I327N

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

Coding Region Coverage

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	G	1: 66,841,705	S301P	probably damaging	Het
Adam34	A	G	8: 43,651,141	V489A	possibly damaging	Het
Adcy8	G	A	15: 64,783,779	T617I	probably damaging	Het
Aggf1	T	C	13: 95,353,971	D605G	probably damaging	Het
Atp10a	T	A	7: 58,813,625	F969I	probably benign	Het
Becn1	A	T	11: 101,291,451	N97K	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Crtac1	A	T	19: 42,284,213	C578S	probably damaging	Het
Dcp1b	A	G	6: 119,215,358	K412E	probably damaging	Het
Ehf	T	A	2: 103,268,155		probably null	Het
Elavl4	T	C	4: 110,206,612	N264S	probably benign	Het
Enpp2	A	T	15: 54,875,669	I406N	probably damaging	Het
F10	A	T	8: 13,055,383	Y316F	possibly damaging	Het
Fam20a	A	G	11: 109,685,351	I194T	possibly damaging	Het
Fcgbp	T	C	7: 28,089,647	V546A	probably benign	Het
Fras1	A	T	5: 96,673,698	Q1438L	probably null	Het
Gm43638	T	C	5: 87,460,592	I463V	probably benign	Het
Gm597	T	C	1: 28,777,056	I632V	probably benign	Het
H2-T10	T	C	17: 36,120,710	D84G	probably benign	Het
Itpr1	T	C	6: 108,399,361	F1262L	probably damaging	Het
Lama1	A	G	17: 67,745,051	N335D	probably benign	Het
Lasp1	T	C	11: 97,836,190	V246A	probably damaging	Het
Lrrk2	A	T	15: 91,683,142	I135L	probably benign	Het
Malrd1	G	A	2: 16,101,957		probably null	Het
Mctp2	T	C	7: 72,228,526	K268R	probably benign	Het
Nbea	A	T	3: 56,031,536	H710Q	probably benign	Het
Notch3	G	A	17: 32,166,757	R13C	unknown	Het
Ogfod1	A	T	8: 94,055,671		probably benign	Het
Olfr1465	A	G	19: 13,314,126	L53P	probably damaging	Het
Olfr339	A	G	2: 36,421,704	Y102C	probably benign	Het
Olfr924	T	C	9: 38,848,252	I46T	probably damaging	Het
Pgm3	A	G	9: 86,561,879	V324A	probably damaging	Het
Ppfia2	A	T	10: 106,858,207	I681F	probably damaging	Het
Prss23	T	C	7: 89,509,887	K325E	possibly damaging	Het
Psmd7	T	A	8: 107,586,617		probably benign	Het
Rfx2	T	A	17: 56,808,317	M1L	possibly damaging	Het
Rpa1	T	C	11: 75,312,315	Y418C	probably damaging	Het
Rps6kc1	C	T	1: 190,773,678	R1029H	probably damaging	Het
Sept10	A	G	10: 59,166,600	V391A	probably benign	Het
Skint6	A	G	4: 113,236,440	F169L	probably benign	Het
Slc44a4	C	T	17: 34,921,698	T289I	probably benign	Het
Srl	T	C	16: 4,497,682	D32G	probably damaging	Het
Stxbp3-ps	T	A	19: 9,557,892		noncoding transcript	Het
Sult1b1	T	C	5: 87,514,956	D295G	probably benign	Het
Tmprss7	A	G	16: 45,684,574	V151A	probably damaging	Het
Trmo	A	G	4: 46,387,589	L84P	probably damaging	Het
Vmn2r98	T	A	17: 19,065,185	I89N	probably damaging	Het
Zcwpw1	G	A	5: 137,796,799	A86T	probably benign	Het
Zkscan16	A	G	4: 58,956,690	H324R	possibly 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
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
R4695:Dlg2	UTSW	7	92437962	splice site	probably null
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
R9617:Dlg2	UTSW	7	92438076	critical splice donor site	probably null
R9751:Dlg2	UTSW	7	90915523	missense	probably benign	0.00
RF004:Dlg2	UTSW	7	90852677	missense	probably benign

Posted On

2013-10-07