Mutagenetix > Incidental Mutation

Incidental Mutation 'R9751:Dlg2'

732515

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 #

R9751 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90476672-92449247 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 90915523 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 116 (H116N)

Ref Sequence

ENSEMBL: ENSMUSP00000155862 (fasta)

Gene Model

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

AlphaFold

Q91XM9

Predicted Effect

probably benign
Transcript: ENSMUST00000231777
AA Change: H116N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,011,740	I54M		Het
Abca4	A	G	3: 122,087,477	N514D	probably benign	Het
Adgre1	G	A	17: 57,450,101	R786H	probably null	Het
Ankrd7	G	A	6: 18,868,025	V97I	probably damaging	Het
Bmper	C	T	9: 23,406,713	P543S	possibly damaging	Het
Brwd1	A	T	16: 95,993,815	M2233K	possibly damaging	Het
C1s2	G	T	6: 124,625,594	P553T	probably damaging	Het
Cachd1	G	A	4: 100,966,241	V497I	possibly damaging	Het
Cacng4	A	G	11: 107,735,193	S191P	probably damaging	Het
Cd109	C	A	9: 78,698,160	T1015K	probably damaging	Het
Clstn2	A	G	9: 97,457,650	L756P	probably damaging	Het
Crybg3	A	T	16: 59,557,524	D1122E	possibly damaging	Het
Csf2	A	T	11: 54,249,594	L6*	probably null	Het
Csnk1g2	T	A	10: 80,637,911	Y71N	possibly damaging	Het
Dnah14	C	T	1: 181,792,045	S3978L	probably damaging	Het
Dpp8	C	T	9: 65,053,171	T328I	probably null	Het
Dysf	T	C	6: 84,186,468	V1625A	probably damaging	Het
Egf	C	A	3: 129,754,889	V26F	probably damaging	Het
Fam126a	C	T	5: 23,991,750	E47K	probably benign	Het
Fam20a	T	A	11: 109,675,166	Y414F	probably damaging	Het
Fsip2	T	C	2: 82,987,897	I4658T	probably benign	Het
Gm11639	G	A	11: 104,893,085	G2754E	probably benign	Het
Gm21319	T	C	12: 87,773,756	N11S	possibly damaging	Het
Igflr1	A	T	7: 30,567,228	Q167L	possibly damaging	Het
Krt79	T	G	15: 101,930,761	E424D	probably benign	Het
Map3k6	A	G	4: 133,251,857		probably null	Het
Mcpt4	A	G	14: 56,060,054	I215T	probably damaging	Het
Med13	T	C	11: 86,299,158	Y975C	probably damaging	Het
Meioc	T	A	11: 102,675,593	Y678*	probably null	Het
Myof	T	C	19: 37,936,370	T1190A	probably benign	Het
Nap1l4	A	C	7: 143,534,395		probably benign	Het
Ncapg	T	C	5: 45,693,853	V796A	probably damaging	Het
Olfr1167	T	A	2: 88,149,270	I250L	probably benign	Het
Olfr1168	T	A	2: 88,184,916	V13E	possibly damaging	Het
Olfr1224-ps1	C	T	2: 89,156,438	V246M	possibly damaging	Het
Olfr1257	C	T	2: 89,881,612	T262I	probably benign	Het
Olfr493	T	C	7: 108,346,438	Y181C	probably benign	Het
Paxbp1	A	G	16: 91,027,300	S515P	probably benign	Het
Plce1	C	T	19: 38,728,970	S1401F	probably damaging	Het
Rptor	A	G	11: 119,887,138	K1043E	probably benign	Het
Rtn4rl2	T	G	2: 84,880,695	N75T	probably damaging	Het
Slc35f4	A	G	14: 49,298,834	I448T	possibly damaging	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,301,649		probably benign	Het
Tas2r115	A	G	6: 132,737,955	I11T	possibly damaging	Het
Tbc1d5	A	G	17: 50,874,652	V351A	possibly damaging	Het
Tmem55b	A	G	14: 50,927,979	V257A	probably benign	Het
Trim43b	A	T	9: 89,089,517	D195E	probably benign	Het
Trim65	C	A	11: 116,130,738	A90S	probably benign	Het
Trip11	C	T	12: 101,884,506	V1100I	possibly damaging	Het
Tyrp1	A	G	4: 80,840,775	E295G	probably null	Het
Ube2g2	G	A	10: 77,644,473	V138I	probably benign	Het
Wdr60	T	A	12: 116,241,783		probably null	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
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
RF004:Dlg2	UTSW	7	90852677	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGATGTCGTTTTCTGTAAGACTGC -3'
(R):5'- AGATTCCCTAATCGTGGTGAC -3'

Sequencing Primer
(F):5'- CTGTAAGACTGCACTAAAAATTAGCC -3'
(R):5'- CGTGGTGACTTTATAATATACTGCTG -3'

Posted On

2022-11-14