Mutagenetix > Incidental Mutation

Incidental Mutation 'R7082:Dlgap4'

549582

Institutional Source

Beutler Lab

Gene Symbol

Dlgap4

Ensembl Gene

ENSMUSG00000061689

Gene Name

DLG associated protein 4

Synonyms

PSD-95/SAP90 binding protein 4, Sapap4, DAP4, WBP16, SAP90/PSD-95-associated protein 4

MMRRC Submission

045176-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R7082 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156455625-156606283 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 156590342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000094] [ENSMUST00000070782] [ENSMUST00000099145] [ENSMUST00000109566] [ENSMUST00000109567] [ENSMUST00000109568] [ENSMUST00000109568] [ENSMUST00000131157] [ENSMUST00000137356] [ENSMUST00000146412] [ENSMUST00000169464] [ENSMUST00000171030] [ENSMUST00000177013]

AlphaFold

B1AZP2

Predicted Effect

probably benign
Transcript: ENSMUST00000000094

SMART Domains

Protein: ENSMUSP00000000094
Gene: ENSMUSG00000061689

Domain	Start	End	E-Value	Type
Pfam:GKAP	3	232	2.4e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000070782

SMART Domains

Protein: ENSMUSP00000068745
Gene: ENSMUSG00000061689

Domain	Start	End	E-Value	Type
low complexity region	162	177	N/A	INTRINSIC
low complexity region	253	277	N/A	INTRINSIC
low complexity region	373	390	N/A	INTRINSIC
low complexity region	480	497	N/A	INTRINSIC
low complexity region	527	554	N/A	INTRINSIC
low complexity region	558	572	N/A	INTRINSIC
low complexity region	600	620	N/A	INTRINSIC
low complexity region	628	637	N/A	INTRINSIC
Pfam:GKAP	638	989	1.2e-132	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000099145

SMART Domains

Protein: ENSMUSP00000096749
Gene: ENSMUSG00000061689

Domain	Start	End	E-Value	Type
low complexity region	19	33	N/A	INTRINSIC
low complexity region	61	81	N/A	INTRINSIC
low complexity region	89	98	N/A	INTRINSIC
Pfam:GKAP	114	453	2.4e-126	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109566

SMART Domains

Protein: ENSMUSP00000105194
Gene: ENSMUSG00000061689

Domain	Start	End	E-Value	Type
Pfam:GKAP	1	285	2e-114	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109567

SMART Domains

Protein: ENSMUSP00000105195
Gene: ENSMUSG00000061689

Domain	Start	End	E-Value	Type
low complexity region	162	177	N/A	INTRINSIC
low complexity region	253	277	N/A	INTRINSIC
low complexity region	373	390	N/A	INTRINSIC
low complexity region	480	497	N/A	INTRINSIC
low complexity region	527	554	N/A	INTRINSIC
low complexity region	558	572	N/A	INTRINSIC
low complexity region	600	620	N/A	INTRINSIC
Pfam:GKAP	636	989	4.4e-116	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109568

SMART Domains

Protein: ENSMUSP00000105196
Gene: ENSMUSG00000061689

Domain	Start	End	E-Value	Type
low complexity region	162	177	N/A	INTRINSIC
low complexity region	253	277	N/A	INTRINSIC
low complexity region	373	390	N/A	INTRINSIC
low complexity region	463	480	N/A	INTRINSIC
low complexity region	510	537	N/A	INTRINSIC
low complexity region	541	555	N/A	INTRINSIC
low complexity region	583	603	N/A	INTRINSIC
low complexity region	611	620	N/A	INTRINSIC
Pfam:GKAP	636	975	5.6e-126	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109568

SMART Domains

Protein: ENSMUSP00000105196
Gene: ENSMUSG00000061689

Domain	Start	End	E-Value	Type
low complexity region	162	177	N/A	INTRINSIC
low complexity region	253	277	N/A	INTRINSIC
low complexity region	373	390	N/A	INTRINSIC
low complexity region	463	480	N/A	INTRINSIC
low complexity region	510	537	N/A	INTRINSIC
low complexity region	541	555	N/A	INTRINSIC
low complexity region	583	603	N/A	INTRINSIC
low complexity region	611	620	N/A	INTRINSIC
Pfam:GKAP	636	975	5.6e-126	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000131157

SMART Domains

Protein: ENSMUSP00000134941
Gene: ENSMUSG00000061689

Domain	Start	End	E-Value	Type
Pfam:GKAP	1	110	2.2e-60	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000137356

Predicted Effect

probably null
Transcript: ENSMUST00000146412

SMART Domains

Protein: ENSMUSP00000135156
Gene: ENSMUSG00000061689

Domain	Start	End	E-Value	Type
Pfam:GKAP	1	122	3.4e-23	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000169464

SMART Domains

Protein: ENSMUSP00000126980
Gene: ENSMUSG00000061689

Domain	Start	End	E-Value	Type
low complexity region	162	177	N/A	INTRINSIC
low complexity region	253	277	N/A	INTRINSIC
low complexity region	373	390	N/A	INTRINSIC
low complexity region	480	497	N/A	INTRINSIC
low complexity region	527	554	N/A	INTRINSIC
low complexity region	558	572	N/A	INTRINSIC
low complexity region	600	620	N/A	INTRINSIC
low complexity region	628	637	N/A	INTRINSIC
Pfam:GKAP	660	992	1.5e-148	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171030

SMART Domains

Protein: ENSMUSP00000129756
Gene: ENSMUSG00000061689

Domain	Start	End	E-Value	Type
Pfam:GKAP	1	266	8.7e-103	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177013

SMART Domains

Protein: ENSMUSP00000135409
Gene: ENSMUSG00000061689

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (88/88)

MGI Phenotype

FUNCTION: This gene encodes a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. The encoded protein may play a role in synapse organization and neuronal signalling. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Mar 2013]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	A	T	6: 52,156,260 (GRCm39)	N109Y	unknown	Het
A430005L14Rik	C	T	4: 154,044,221 (GRCm39)	R11W	probably damaging	Het
Aadacl2	T	A	3: 59,932,306 (GRCm39)	S274T	probably damaging	Het
Ahctf1	T	C	1: 179,602,898 (GRCm39)	R887G	probably benign	Het
Aox4	G	T	1: 58,263,352 (GRCm39)	R158L	possibly damaging	Het
Atp10a	T	C	7: 58,308,567 (GRCm39)	I122T	probably damaging	Het
Batf2	G	T	19: 6,221,405 (GRCm39)	A72S	possibly damaging	Het
Bltp3a	G	T	17: 28,109,039 (GRCm39)	R1086L	probably damaging	Het
Bptf	T	C	11: 106,977,573 (GRCm39)	D749G	probably benign	Het
Cacybp	A	G	1: 160,031,229 (GRCm39)	Y200H	probably damaging	Het
Cdc40	A	T	10: 40,743,869 (GRCm39)	V76D	probably benign	Het
Cdc42ep4	T	C	11: 113,619,944 (GRCm39)	D149G	probably benign	Het
Chtop	A	G	3: 90,414,891 (GRCm39)	V9A	probably benign	Het
Cnot9	A	G	1: 74,566,165 (GRCm39)	I185M	probably damaging	Het
Col6a5	A	G	9: 105,808,438 (GRCm39)	I870T	unknown	Het
Cr1l	A	G	1: 194,806,006 (GRCm39)	I159T	probably benign	Het
Cthrc1	T	C	15: 38,940,495 (GRCm39)	S33P	probably benign	Het
Dlg2	T	A	7: 90,381,192 (GRCm39)	W44R	probably benign	Het
Dna2	A	G	10: 62,790,096 (GRCm39)	H193R	possibly damaging	Het
Espnl	T	A	1: 91,262,521 (GRCm39)	F322Y	probably benign	Het
Fam171a1	G	A	2: 3,224,512 (GRCm39)	V293I	probably benign	Het
Fam76b	A	G	9: 13,744,308 (GRCm39)	Y135C	probably damaging	Het
Flvcr2	A	T	12: 85,793,728 (GRCm39)	I35F	probably benign	Het
Gm9195	T	A	14: 72,680,152 (GRCm39)	Q2219L	probably benign	Het
Gnptg	T	C	17: 25,453,694 (GRCm39)	T283A	probably benign	Het
Grap2	G	A	15: 80,532,699 (GRCm39)	V289M	probably benign	Het
Hk3	T	C	13: 55,154,710 (GRCm39)	T767A	probably benign	Het
Hs3st5	A	G	10: 36,708,833 (GRCm39)	I123V	probably benign	Het
Il6st	A	G	13: 112,640,566 (GRCm39)	T781A	probably damaging	Het
Inpp5d	T	A	1: 87,623,102 (GRCm39)	H398Q	probably damaging	Het
Kcnk1	A	G	8: 126,722,287 (GRCm39)	Y30C	probably damaging	Het
Klhl6	T	C	16: 19,801,633 (GRCm39)	T41A	probably benign	Het
Krt14	G	A	11: 100,094,167 (GRCm39)	H476Y	possibly damaging	Het
Lingo3	G	C	10: 80,671,625 (GRCm39)	R102G	probably benign	Het
Map3k9	G	A	12: 81,771,476 (GRCm39)	T704M	probably damaging	Het
Mdn1	C	A	4: 32,762,341 (GRCm39)	N5088K	probably benign	Het
Mmp9	T	A	2: 164,790,812 (GRCm39)	S67T	probably benign	Het
Mrps18c	A	G	5: 100,952,270 (GRCm39)	E143G	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Muc21	A	T	17: 35,932,093 (GRCm39)	S698T	unknown	Het
Nags	C	A	11: 102,038,298 (GRCm39)	R335S	possibly damaging	Het
Nars1	A	G	18: 64,637,425 (GRCm39)	V385A	possibly damaging	Het
Nipal2	A	C	15: 34,584,809 (GRCm39)	V253G	possibly damaging	Het
Nos2	C	A	11: 78,819,405 (GRCm39)	T39K	probably benign	Het
Or10p1	T	A	10: 129,443,416 (GRCm39)	*311Y	probably null	Het
Or10p1	T	A	10: 129,443,417 (GRCm39)	*311L	probably null	Het
Or51t4	T	C	7: 102,598,455 (GRCm39)	V261A	probably damaging	Het
Or52s19	C	A	7: 103,007,495 (GRCm39)	R302L	possibly damaging	Het
Or6c66	C	T	10: 129,461,634 (GRCm39)	V99M	probably benign	Het
Or9s15	G	A	1: 92,524,140 (GRCm39)		probably benign	Het
Panx3	G	A	9: 37,577,913 (GRCm39)	P106S	probably benign	Het
Pappa2	G	A	1: 158,590,689 (GRCm39)	T1655I	possibly damaging	Het
Pcdhb1	A	G	18: 37,400,044 (GRCm39)	D665G	probably damaging	Het
Pde2a	T	C	7: 101,157,303 (GRCm39)	L676P	probably damaging	Het
Pf4	A	G	5: 90,920,851 (GRCm39)	T60A	possibly damaging	Het
Pira12	C	T	7: 3,898,510 (GRCm39)	V313M	probably damaging	Het
Pld5	A	T	1: 175,917,442 (GRCm39)	C164S	probably benign	Het
Psd3	A	T	8: 68,356,800 (GRCm39)	M640K	probably benign	Het
Ptf1a	A	G	2: 19,450,676 (GRCm39)	D2G	possibly damaging	Het
Ptprq	C	T	10: 107,544,591 (GRCm39)	C313Y	probably benign	Het
Ranbp10	A	G	8: 106,500,578 (GRCm39)	S467P	probably damaging	Het
Rap1gap	C	T	4: 137,446,247 (GRCm39)	T333M	probably damaging	Het
Rfpl4	A	G	7: 5,118,558 (GRCm39)	L4P	probably benign	Het
Rgs12	A	G	5: 35,124,050 (GRCm39)	N611S	probably benign	Het
Sacs	C	A	14: 61,447,966 (GRCm39)	N3337K	possibly damaging	Het
Sbno2	A	T	10: 79,895,924 (GRCm39)		probably null	Het
Scrn2	T	A	11: 96,923,908 (GRCm39)	V264E	possibly damaging	Het
Serpinb9c	T	A	13: 33,338,390 (GRCm39)	I198L	probably benign	Het
Shank2	T	C	7: 143,964,096 (GRCm39)	F568S	probably damaging	Het
Slc47a1	C	T	11: 61,268,767 (GRCm39)	R36Q	probably benign	Het
Slc4a8	A	C	15: 100,688,908 (GRCm39)	E406A	probably damaging	Het
Speg	C	T	1: 75,388,091 (GRCm39)	T1483I	probably damaging	Het
Srbd1	A	G	17: 86,365,160 (GRCm39)	V632A	probably damaging	Het
Srd5a2	A	T	17: 74,328,515 (GRCm39)	Y188N	probably damaging	Het
Sspo	A	T	6: 48,455,543 (GRCm39)		probably null	Het
Ssx2ip	A	T	3: 146,136,703 (GRCm39)	D317V	probably benign	Het
Tmco3	G	T	8: 13,370,847 (GRCm39)	E172*	probably null	Het
Trpc4	G	A	3: 54,206,519 (GRCm39)	W573*	probably null	Het
Ttn	T	C	2: 76,580,340 (GRCm39)	I23518V	probably benign	Het
Tubal3	A	G	13: 3,983,050 (GRCm39)	T277A	possibly damaging	Het
Unc5b	A	T	10: 60,610,867 (GRCm39)	L391H	probably damaging	Het
Vmn2r76	A	G	7: 85,874,440 (GRCm39)	F846L	probably benign	Het
Vps13c	T	A	9: 67,790,735 (GRCm39)	Y338N	probably damaging	Het
Zc3hav1	G	T	6: 38,309,328 (GRCm39)	S498*	probably null	Het
Zfand4	T	A	6: 116,305,337 (GRCm39)		probably null	Het
Zfp451	A	T	1: 33,811,972 (GRCm39)		probably null	Het
Zfp607a	A	T	7: 27,578,183 (GRCm39)	I418F	probably damaging	Het
Zfp612	A	G	8: 110,816,337 (GRCm39)	T515A	probably damaging	Het
Zfp708	G	T	13: 67,219,200 (GRCm39)	L208I	possibly damaging	Het

Other mutations in Dlgap4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02164:Dlgap4	APN	2	156,553,059 (GRCm39)	missense	probably damaging	1.00
IGL02732:Dlgap4	APN	2	156,591,243 (GRCm39)	missense	probably benign	0.30
IGL02868:Dlgap4	APN	2	156,542,816 (GRCm39)	missense	probably damaging	1.00
IGL03169:Dlgap4	APN	2	156,552,938 (GRCm39)	splice site	probably null
IGL03220:Dlgap4	APN	2	156,546,546 (GRCm39)	missense	probably damaging	1.00
E0374:Dlgap4	UTSW	2	156,603,763 (GRCm39)	missense	probably damaging	1.00
R0413:Dlgap4	UTSW	2	156,604,746 (GRCm39)	missense	probably damaging	1.00
R0573:Dlgap4	UTSW	2	156,588,111 (GRCm39)	missense	probably benign	0.32
R0645:Dlgap4	UTSW	2	156,603,799 (GRCm39)	missense	probably damaging	1.00
R0893:Dlgap4	UTSW	2	156,587,898 (GRCm39)	nonsense	probably null
R1472:Dlgap4	UTSW	2	156,602,821 (GRCm39)	nonsense	probably null
R1620:Dlgap4	UTSW	2	156,591,056 (GRCm39)	nonsense	probably null
R1636:Dlgap4	UTSW	2	156,587,997 (GRCm39)	nonsense	probably null
R2078:Dlgap4	UTSW	2	156,604,746 (GRCm39)	missense	probably damaging	1.00
R2173:Dlgap4	UTSW	2	156,604,732 (GRCm39)	missense	probably damaging	1.00
R2264:Dlgap4	UTSW	2	156,543,383 (GRCm39)	missense	probably benign	0.00
R2348:Dlgap4	UTSW	2	156,543,126 (GRCm39)	missense	possibly damaging	0.80
R3608:Dlgap4	UTSW	2	156,590,332 (GRCm39)	intron	probably benign
R3872:Dlgap4	UTSW	2	156,591,267 (GRCm39)	missense	probably benign	0.21
R3873:Dlgap4	UTSW	2	156,591,267 (GRCm39)	missense	probably benign	0.21
R3874:Dlgap4	UTSW	2	156,591,267 (GRCm39)	missense	probably benign	0.21
R3897:Dlgap4	UTSW	2	156,587,989 (GRCm39)	missense	probably damaging	1.00
R5068:Dlgap4	UTSW	2	156,549,031 (GRCm39)	missense	probably benign
R5286:Dlgap4	UTSW	2	156,587,839 (GRCm39)	missense	probably damaging	1.00
R5302:Dlgap4	UTSW	2	156,602,818 (GRCm39)	missense	probably damaging	1.00
R5568:Dlgap4	UTSW	2	156,604,821 (GRCm39)	makesense	probably null
R5691:Dlgap4	UTSW	2	156,546,390 (GRCm39)	missense	probably benign
R5741:Dlgap4	UTSW	2	156,552,968 (GRCm39)	missense	probably damaging	1.00
R5917:Dlgap4	UTSW	2	156,546,460 (GRCm39)	missense	probably damaging	1.00
R6140:Dlgap4	UTSW	2	156,604,649 (GRCm39)	splice site	probably null
R6992:Dlgap4	UTSW	2	156,590,860 (GRCm39)	splice site	probably null
R7566:Dlgap4	UTSW	2	156,604,657 (GRCm39)	missense	probably benign	0.00
R7698:Dlgap4	UTSW	2	156,591,015 (GRCm39)	nonsense	probably null
R7767:Dlgap4	UTSW	2	156,587,973 (GRCm39)	missense	probably damaging	1.00
R7853:Dlgap4	UTSW	2	156,547,802 (GRCm39)	missense	probably benign
R7944:Dlgap4	UTSW	2	156,591,054 (GRCm39)	missense	probably damaging	0.96
R8366:Dlgap4	UTSW	2	156,542,694 (GRCm39)	nonsense	probably null
R8835:Dlgap4	UTSW	2	156,587,946 (GRCm39)	missense	probably damaging	0.99
R9136:Dlgap4	UTSW	2	156,588,075 (GRCm39)	missense	possibly damaging	0.78
R9288:Dlgap4	UTSW	2	156,546,514 (GRCm39)	missense	possibly damaging	0.89
R9289:Dlgap4	UTSW	2	156,546,514 (GRCm39)	missense	possibly damaging	0.89
R9296:Dlgap4	UTSW	2	156,546,514 (GRCm39)	missense	possibly damaging	0.89
R9319:Dlgap4	UTSW	2	156,546,514 (GRCm39)	missense	possibly damaging	0.89
R9480:Dlgap4	UTSW	2	156,546,514 (GRCm39)	missense	possibly damaging	0.89
R9522:Dlgap4	UTSW	2	156,546,514 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TGTCCACATGTCTGTTTGCG -3'
(R):5'- TGACTGGTCTCAGAGCAAGC -3'

Sequencing Primer
(F):5'- CGTCCCACTAATGTGAATTTCAGCAG -3'
(R):5'- AAGCGCTCATGTGTCCAC -3'

Posted On

2019-05-15