Mutagenetix > Incidental Mutation

Incidental Mutation 'R7969:Dlg2'

650504

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7969 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90476672-92449247 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92417258 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 235 (F235S)

Ref Sequence

ENSEMBL: ENSMUSP00000095910 (fasta)

Gene Model

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

AlphaFold

Q91XM9

Predicted Effect

probably benign
Transcript: ENSMUST00000074273
AA Change: F638S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000073885
Gene: ENSMUSG00000052572
AA Change: F638S

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: F235S

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000095910
Gene: ENSMUSG00000052572
AA Change: F235S

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

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 benign
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

probably benign
Transcript: ENSMUST00000231777

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,440,225	V4414E	possibly damaging	Het
Ahcyl2	T	A	6: 29,870,664	I193N	probably damaging	Het
Amotl2	C	T	9: 102,723,769	T345I	probably benign	Het
Atf6b	A	T	17: 34,648,575		probably null	Het
Cacna1s	T	G	1: 136,076,732	F337C	probably damaging	Het
Cep85l	T	C	10: 53,298,184	I488V	probably damaging	Het
Cmas	T	A	6: 142,775,166	D375E	probably damaging	Het
Cnga4	T	C	7: 105,406,046	F279S	probably damaging	Het
Cyp4f37	T	C	17: 32,625,207	V95A	probably benign	Het
Dao	AGG	AG	5: 114,015,209		probably benign	Het
Dmxl2	T	C	9: 54,446,881	D427G	possibly damaging	Het
Efl1	T	C	7: 82,692,970	Y529H	probably benign	Het
Epx	C	T	11: 87,872,721	M224I	probably benign	Het
Fetub	A	G	16: 22,929,699	R101G	possibly damaging	Het
Fubp1	T	A	3: 152,222,246		probably null	Het
Impdh2	C	T	9: 108,562,306	R153*	probably null	Het
Kcnj12	C	T	11: 61,069,604	Q243*	probably null	Het
Lrrn1	T	A	6: 107,567,850	V203E	probably damaging	Het
Meikin	T	C	11: 54,409,710	S338P	possibly damaging	Het
Myl10	A	T	5: 136,700,853		probably null	Het
Nt5c3b	T	C	11: 100,434,741	K120E	possibly damaging	Het
Olfr118	T	A	17: 37,672,656	L211H	probably damaging	Het
Olfr790	T	C	10: 129,501,847	L313S	probably benign	Het
Olfr802	G	A	10: 129,681,830	T303I	probably benign	Het
Olfr93	T	A	17: 37,151,186	N262I	possibly damaging	Het
Pdzd7	A	G	19: 45,036,225	S452P	probably benign	Het
Prune2	A	G	19: 17,201,670	I2982V	probably damaging	Het
Ptpdc1	G	A	13: 48,587,101	R285C	probably damaging	Het
Raf1	T	C	6: 115,620,288	D486G	probably damaging	Het
Rbm27	A	T	18: 42,275,480		probably benign	Het
Slit2	A	G	5: 48,304,036	Y1475C	possibly damaging	Het
Snx14	G	A	9: 88,413,560	T184M	probably damaging	Het
Tgm5	G	T	2: 121,075,169	N168K	probably damaging	Het
Ugt2b38	A	G	5: 87,424,032	V47A	probably benign	Het
Ush2a	A	G	1: 188,826,371	H3599R	probably benign	Het
Veph1	T	C	3: 66,215,475	E211G	possibly damaging	Het
Wapl	T	A	14: 34,730,647	H832Q	probably damaging	Het
Zfp281	T	A	1: 136,626,034	V250D	probably benign	Het
Zfp36l2	A	G	17: 84,185,824	S462P	unknown	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTCATTATCAAGACTTGGCACTCC -3'
(R):5'- CCATGTTGTTTGCCTAGGCG -3'

Sequencing Primer
(F):5'- GAAAATCAAGTCTGCCTTTCGC -3'
(R):5'- GATCACTGGTTTCCTGCT -3'

Posted On

2020-09-15