Mutagenetix > Incidental Mutation

Incidental Mutation 'R4672:Dlg2'

348531

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

041927-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4672 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90125880-92098455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91935743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 624 (M624L)

Ref Sequence

ENSEMBL: ENSMUSP00000155862 (fasta)

Gene Model

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

AlphaFold

Q91XM9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074273
AA Change: M519L

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000073885
Gene: ENSMUSG00000052572
AA Change: M519L

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

possibly damaging
Transcript: ENSMUST00000098308
AA Change: M116L

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095910
Gene: ENSMUSG00000052572
AA Change: M116L

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 benign
Transcript: ENSMUST00000107193
AA Change: M422L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000102811
Gene: ENSMUSG00000052572
AA Change: M422L

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: M519L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102814
Gene: ENSMUSG00000052572
AA Change: M519L

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: ENSMUST00000129818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208377

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207798

Predicted Effect

probably damaging
Transcript: ENSMUST00000231777
AA Change: M624L

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

Meta Mutation Damage Score

0.0736

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (113/115)

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
Abca8a	G	A	11: 109,962,702 (GRCm39)	L483F	possibly damaging	Het
Abca8b	A	G	11: 109,827,274 (GRCm39)	F1507L	possibly damaging	Het
Adamdec1	C	A	14: 68,815,353 (GRCm39)	E104*	probably null	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Alppl2	T	C	1: 87,017,187 (GRCm39)		probably benign	Het
Aplnr	A	G	2: 84,967,524 (GRCm39)	Y183C	probably damaging	Het
Atm	G	A	9: 53,433,501 (GRCm39)	R250W	probably damaging	Het
B4galt7	T	C	13: 55,757,132 (GRCm39)	L275P	probably damaging	Het
Bltp1	A	G	3: 36,944,139 (GRCm39)	*330W	probably null	Het
Ccdc178	G	A	18: 22,283,501 (GRCm39)	Q10*	probably null	Het
Ccr9	T	C	9: 123,608,752 (GRCm39)	Y145H	probably damaging	Het
Cd209f	C	T	8: 4,153,685 (GRCm39)	G188D	probably damaging	Het
Cep70	T	A	9: 99,136,365 (GRCm39)	S23T	possibly damaging	Het
Cpped1	C	A	16: 11,623,238 (GRCm39)	E294*	probably null	Het
Crisp1	T	A	17: 40,605,404 (GRCm39)		probably null	Het
Disp1	T	C	1: 182,880,215 (GRCm39)		probably null	Het
Elf2	A	G	3: 51,163,855 (GRCm39)	V558A	probably damaging	Het
Eno2	T	C	6: 124,743,109 (GRCm39)	D209G	probably damaging	Het
Fam187b	G	A	7: 30,676,968 (GRCm39)	R159H	probably damaging	Het
Fh1	G	A	1: 175,431,617 (GRCm39)	A423V	probably benign	Het
Frg1	C	T	8: 41,853,846 (GRCm39)	D164N	probably benign	Het
Fsbp	T	G	4: 11,579,841 (GRCm39)	N36K	probably benign	Het
Gcn1	A	G	5: 115,744,579 (GRCm39)	T1592A	probably damaging	Het
Gimap3	A	G	6: 48,742,687 (GRCm39)	I81T	probably damaging	Het
Gjb6	C	T	14: 57,362,235 (GRCm39)	V9I	probably benign	Het
Gkap1	T	C	13: 58,411,770 (GRCm39)	S68G	possibly damaging	Het
Gpatch8	A	T	11: 102,369,784 (GRCm39)	S1251R	probably damaging	Het
Gria4	A	G	9: 4,664,981 (GRCm39)	F92L	possibly damaging	Het
H2-Q1	C	A	17: 35,539,906 (GRCm39)	D58E	probably damaging	Het
Hs1bp3	G	T	12: 8,391,983 (GRCm39)	G362*	probably null	Het
Igfn1	T	A	1: 135,893,107 (GRCm39)	H2114L	possibly damaging	Het
Igkv12-98	A	G	6: 68,547,940 (GRCm39)	Q22R	probably benign	Het
Ing3	A	G	6: 21,965,729 (GRCm39)		probably null	Het
Insr	C	T	8: 3,217,501 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,941,630 (GRCm39)	S374P	probably benign	Het
Kif14	A	C	1: 136,449,016 (GRCm39)	Q1472P	probably benign	Het
Kif14	G	T	1: 136,449,017 (GRCm39)	Q1472H	probably benign	Het
Knstrn	A	G	2: 118,664,512 (GRCm39)	E202G	probably damaging	Het
Knstrn	G	T	2: 118,664,513 (GRCm39)	E202D	possibly damaging	Het
Krt12	A	G	11: 99,309,509 (GRCm39)		probably benign	Het
Lgi3	A	T	14: 70,771,897 (GRCm39)	I195F	possibly damaging	Het
Lima1	T	C	15: 99,741,590 (GRCm39)	N29D	probably damaging	Het
Liph	T	C	16: 21,802,806 (GRCm39)	I88V	probably benign	Het
Lrrk1	A	G	7: 65,929,120 (GRCm39)	S86P	probably benign	Het
Lsamp	A	G	16: 41,775,697 (GRCm39)	R166G	probably damaging	Het
Mamdc2	T	A	19: 23,328,148 (GRCm39)	N407Y	probably damaging	Het
Mast3	CATA	CA	8: 71,237,441 (GRCm39)		probably null	Het
Megf6	T	A	4: 154,333,909 (GRCm39)	N212K	probably damaging	Het
Met	A	C	6: 17,571,803 (GRCm39)	D1374A	probably benign	Het
Mrc2	A	G	11: 105,233,923 (GRCm39)	T902A	probably benign	Het
Mroh3	T	A	1: 136,118,713 (GRCm39)	T535S	probably benign	Het
Muc1	G	T	3: 89,139,384 (GRCm39)	V595L	probably damaging	Het
Myh2	T	A	11: 67,079,303 (GRCm39)	L957Q	probably damaging	Het
Myorg	T	A	4: 41,499,061 (GRCm39)	M190L	probably benign	Het
Ncl	A	T	1: 86,284,324 (GRCm39)	D257E	probably benign	Het
Nipbl	T	A	15: 8,332,468 (GRCm39)	D2263V	probably damaging	Het
Optc	C	A	1: 133,825,555 (GRCm39)	V324L	possibly damaging	Het
Or4k15	A	G	14: 50,364,714 (GRCm39)	N227D	probably benign	Het
Or4k42	A	T	2: 111,319,902 (GRCm39)	N200K	possibly damaging	Het
Or7g35	A	G	9: 19,496,726 (GRCm39)	K298E	possibly damaging	Het
Osbpl9	A	G	4: 108,921,806 (GRCm39)	I604T	possibly damaging	Het
Otog	C	A	7: 45,939,210 (GRCm39)	A2080D	probably damaging	Het
Parp6	G	C	9: 59,547,393 (GRCm39)	R460P	probably damaging	Het
Phactr4	G	T	4: 132,098,017 (GRCm39)	P417Q	probably damaging	Het
Pigt	T	C	2: 164,339,498 (GRCm39)		probably benign	Het
Plekha5	A	G	6: 140,470,655 (GRCm39)	I99V	probably damaging	Het
Plxna3	T	G	X: 73,382,554 (GRCm39)		probably null	Het
Ppp2r1b	G	A	9: 50,779,019 (GRCm39)	M362I	probably damaging	Het
Pramel34	T	A	5: 93,784,182 (GRCm39)	R230S	probably damaging	Het
Rad51	A	G	2: 118,954,327 (GRCm39)	I136V	probably benign	Het
Rad54b	T	A	4: 11,609,449 (GRCm39)	H633Q	probably benign	Het
Rasal2	A	G	1: 157,071,231 (GRCm39)	F41S	probably benign	Het
Reep3	T	A	10: 66,857,629 (GRCm39)	H154L	probably benign	Het
Rp1l1	T	G	14: 64,268,719 (GRCm39)	V1435G	probably damaging	Het
Rps6ka5	C	A	12: 100,620,546 (GRCm39)	K125N	possibly damaging	Het
Rsad1	A	T	11: 94,434,444 (GRCm39)	M330K	probably damaging	Het
Scand1	A	G	2: 156,153,850 (GRCm39)		probably null	Het
Setd6	A	G	8: 96,444,640 (GRCm39)	H111R	probably null	Het
Slc27a3	T	C	3: 90,294,953 (GRCm39)	N368S	possibly damaging	Het
Slc38a2	T	C	15: 96,596,518 (GRCm39)	T32A	probably benign	Het
Smg7	A	G	1: 152,721,164 (GRCm39)	S683P	probably damaging	Het
Smyd2	A	T	1: 189,642,101 (GRCm39)	L62M	probably damaging	Het
Sox5	T	C	6: 143,779,075 (GRCm39)	Y687C	probably damaging	Het
Spaca6	T	A	17: 18,057,005 (GRCm39)	C53*	probably null	Het
Spata31e4	T	C	13: 50,857,208 (GRCm39)	Y949H	probably benign	Het
Spire2	T	C	8: 124,084,850 (GRCm39)	V230A	probably benign	Het
Sptbn2	G	T	19: 4,782,524 (GRCm39)	V487L	probably benign	Het
Stk3	T	A	15: 35,099,603 (GRCm39)	I110L	probably benign	Het
Stox2	T	A	8: 47,645,141 (GRCm39)	Y773F	probably damaging	Het
Tbrg1	C	A	9: 37,562,632 (GRCm39)	A259S	probably damaging	Het
Tnfsf18	C	A	1: 161,331,307 (GRCm39)	D152E	probably benign	Het
Tpr	G	A	1: 150,299,318 (GRCm39)	A1173T	probably benign	Het
Trrap	T	C	5: 144,722,290 (GRCm39)	L271P	probably damaging	Het
Ttn	G	T	2: 76,657,419 (GRCm39)		probably benign	Het
U2surp	A	G	9: 95,375,198 (GRCm39)	S192P	possibly damaging	Het
Ubr4	C	T	4: 139,138,027 (GRCm39)	S1128L	probably damaging	Het
Ucma	G	A	2: 4,981,465 (GRCm39)		probably null	Het
Urb1	A	T	16: 90,569,522 (GRCm39)	D1401E	probably benign	Het
Usp54	A	T	14: 20,631,597 (GRCm39)		probably benign	Het
Vmn1r31	A	G	6: 58,449,056 (GRCm39)	Y270H	probably damaging	Het
Vmn1r90	T	A	7: 14,295,493 (GRCm39)	T202S	probably benign	Het
Vmn2r88	A	G	14: 51,655,612 (GRCm39)	Y616C	probably damaging	Het
Vmn2r95	T	A	17: 18,672,413 (GRCm39)	W717R	probably damaging	Het
Zcchc4	C	A	5: 52,953,947 (GRCm39)	T209K	probably benign	Het
Zfp955b	T	A	17: 33,524,233 (GRCm39)		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
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'- CCTGTGAATATGTGAGTAAAAGGC -3'
(R):5'- GCAAAGCCTTTGAGCTGAAG -3'

Sequencing Primer
(F):5'- GCAGACCTACTATTCTGAAGTTGAGC -3'
(R):5'- CAAAGCCTTTGAGCTGAAGTGTACTG -3'

Posted On

2015-10-08