Mutagenetix > Incidental Mutation

Incidental Mutation 'R3874:Dlgap4'

276706

Institutional Source

Beutler Lab

Gene Symbol

Dlgap4

Ensembl Gene

ENSMUSG00000061689

Gene Name

DLG associated protein 4

Synonyms

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

MMRRC Submission

040792-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R3874 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156613705-156764363 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 156749347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 818 (S818P)

Ref Sequence

ENSEMBL: ENSMUSP00000105196 (fasta)

Gene Model

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

AlphaFold

B1AZP2

Predicted Effect

probably benign
Transcript: ENSMUST00000000094
AA Change: S141P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000000094
Gene: ENSMUSG00000061689
AA Change: S141P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000070782
AA Change: S832P

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000068745
Gene: ENSMUSG00000061689
AA Change: S832P

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 benign
Transcript: ENSMUST00000099145
AA Change: S296P

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000096749
Gene: ENSMUSG00000061689
AA Change: S296P

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 benign
Transcript: ENSMUST00000109566
AA Change: S128P

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105194
Gene: ENSMUSG00000061689
AA Change: S128P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109567
AA Change: S832P

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105195
Gene: ENSMUSG00000061689
AA Change: S832P

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 benign
Transcript: ENSMUST00000109568
AA Change: S818P

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105196
Gene: ENSMUSG00000061689
AA Change: S818P

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

noncoding transcript
Transcript: ENSMUST00000127944

Predicted Effect

probably benign
Transcript: ENSMUST00000131157
AA Change: S11P

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

SMART Domains

Protein: ENSMUSP00000134941
Gene: ENSMUSG00000061689
AA Change: S11P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000137356

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000169464
AA Change: S835P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000126980
Gene: ENSMUSG00000061689
AA Change: S835P

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
AA Change: S128P

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000129756
Gene: ENSMUSG00000061689
AA Change: S128P

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

Meta Mutation Damage Score

0.0868

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130213A22Rik	C	A	11: 69,121,475	G26*	probably null	Het
Abca5	T	A	11: 110,310,233	Y447F	probably damaging	Het
Acox2	A	G	14: 8,248,061	I407T	probably benign	Het
Adam8	T	C	7: 139,987,607	N408D	probably damaging	Het
Adgre1	A	T	17: 57,401,925	T39S	probably benign	Het
Akap12	G	A	10: 4,357,590	V1467I	probably benign	Het
Arid1b	T	A	17: 5,336,515		probably null	Het
Atp2c2	A	G	8: 119,735,296	I303V	possibly damaging	Het
Bpifc	C	T	10: 85,991,254	V144I	probably benign	Het
C530008M17Rik	A	G	5: 76,840,892	D30G	probably damaging	Het
Camk4	A	G	18: 33,158,854	E189G	possibly damaging	Het
Casz1	A	G	4: 148,939,589		probably benign	Het
Ccdc134	T	C	15: 82,131,442	V41A	possibly damaging	Het
Chrd	A	T	16: 20,738,910	T753S	probably damaging	Het
Cyb561a3	T	C	19: 10,585,371	V125A	probably benign	Het
D630039A03Rik	T	A	4: 57,910,606	T69S	probably benign	Het
Dchs1	A	G	7: 105,761,635	F1687S	probably damaging	Het
Dnah2	A	G	11: 69,429,348	I3965T	probably damaging	Het
Dnaic2	G	T	11: 114,732,955	G15W	probably damaging	Het
Dsg1c	A	G	18: 20,277,052	I526V	probably benign	Het
Far2	G	A	6: 148,150,591	E123K	probably benign	Het
Gli1	A	T	10: 127,330,219	V1055E	probably damaging	Het
Hand2	G	T	8: 57,321,976	A24S	probably benign	Het
Helb	T	C	10: 120,106,037	I249V	probably benign	Het
Hspa4l	G	A	3: 40,772,642	V492M	probably damaging	Het
Hspg2	T	C	4: 137,539,349	I1916T	probably damaging	Het
Igfals	G	A	17: 24,881,605	V557I	possibly damaging	Het
Itpa	T	G	2: 130,681,010	S176A	probably damaging	Het
Kcnu1	T	A	8: 25,885,317	L353H	probably damaging	Het
Klhl1	A	G	14: 96,518,179	F47L	probably benign	Het
Klhl13	T	C	X: 23,285,176	D21G	probably benign	Het
Krt26	T	C	11: 99,334,744	K304E	probably damaging	Het
Krt9	C	T	11: 100,190,849	V285I	probably damaging	Het
Mansc1	T	C	6: 134,610,183	R344G	possibly damaging	Het
Mier2	G	T	10: 79,541,797	P439T	possibly damaging	Het
Mppe1	T	A	18: 67,225,886		probably null	Het
Nedd4l	G	A	18: 65,167,535	A243T	probably benign	Het
Notch4	T	A	17: 34,578,069	C934*	probably null	Het
Nsmce3	C	T	7: 64,872,168	D251N	probably damaging	Het
Olfr101	T	A	17: 37,299,979	T148S	probably benign	Het
Olfr1156	T	A	2: 87,949,530	R234S	probably damaging	Het
Olfr1310	T	C	2: 112,008,323	T288A	possibly damaging	Het
Olfr139	A	G	11: 74,044,699	C192R	probably damaging	Het
Olfr517	C	T	7: 108,869,128	V9M	probably damaging	Het
Olfr937	A	G	9: 39,060,174	I164T	probably benign	Het
Pdzd7	T	C	19: 45,045,628	T6A	probably benign	Het
Picalm	T	A	7: 90,189,219	F493Y	probably damaging	Het
Prl7d1	A	G	13: 27,716,668	M1T	probably null	Het
Prl8a1	T	C	13: 27,575,458	K199E	possibly damaging	Het
Rims1	C	T	1: 22,428,489	R764H	probably damaging	Het
Rnf17	G	T	14: 56,475,413	R779L	possibly damaging	Het
Rufy2	T	C	10: 62,998,137	L294P	probably damaging	Het
Sgsh	A	G	11: 119,350,947	L111P	probably damaging	Het
Slc22a30	G	T	19: 8,336,849	T491K	probably benign	Het
Slc35b3	T	C	13: 38,943,068	N20D	possibly damaging	Het
Slc5a4a	T	C	10: 76,181,655	F429L	probably benign	Het
Sulf1	T	C	1: 12,817,412	I270T	probably damaging	Het
Tmem51	T	C	4: 142,031,748	T230A	probably damaging	Het
Tnc	T	A	4: 64,008,710	I860F	probably damaging	Het
Trh	A	T	6: 92,243,698	V61E	possibly damaging	Het
Ttn	T	G	2: 76,754,099	T22222P	probably damaging	Het
Uroc1	A	T	6: 90,361,512	K652*	probably null	Het
Usp34	C	T	11: 23,489,033	P3532S	possibly damaging	Het
Vmn2r120	A	T	17: 57,524,954	F278L	probably benign	Het
Vmn2r7	A	G	3: 64,719,611	F86L	possibly damaging	Het
Vmn2r87	A	T	10: 130,479,987	I70K	possibly damaging	Het
Vps13a	C	T	19: 16,744,953	A332T	probably benign	Het
Zfp568	T	A	7: 30,023,396	C589S	probably damaging	Het

Other mutations in Dlgap4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02164:Dlgap4	APN	2	156711139	missense	probably damaging	1.00
IGL02732:Dlgap4	APN	2	156749323	missense	probably benign	0.30
IGL02868:Dlgap4	APN	2	156700896	missense	probably damaging	1.00
IGL03169:Dlgap4	APN	2	156711018	splice site	probably null
IGL03220:Dlgap4	APN	2	156704626	missense	probably damaging	1.00
E0374:Dlgap4	UTSW	2	156761843	missense	probably damaging	1.00
R0413:Dlgap4	UTSW	2	156762826	missense	probably damaging	1.00
R0573:Dlgap4	UTSW	2	156746191	missense	probably benign	0.32
R0645:Dlgap4	UTSW	2	156761879	missense	probably damaging	1.00
R0893:Dlgap4	UTSW	2	156745978	nonsense	probably null
R1472:Dlgap4	UTSW	2	156760901	nonsense	probably null
R1620:Dlgap4	UTSW	2	156749136	nonsense	probably null
R1636:Dlgap4	UTSW	2	156746077	nonsense	probably null
R2078:Dlgap4	UTSW	2	156762826	missense	probably damaging	1.00
R2173:Dlgap4	UTSW	2	156762812	missense	probably damaging	1.00
R2264:Dlgap4	UTSW	2	156701463	missense	probably benign	0.00
R2348:Dlgap4	UTSW	2	156701206	missense	possibly damaging	0.80
R3608:Dlgap4	UTSW	2	156748412	intron	probably benign
R3872:Dlgap4	UTSW	2	156749347	missense	probably benign	0.21
R3873:Dlgap4	UTSW	2	156749347	missense	probably benign	0.21
R3897:Dlgap4	UTSW	2	156746069	missense	probably damaging	1.00
R5068:Dlgap4	UTSW	2	156707111	missense	probably benign
R5286:Dlgap4	UTSW	2	156745919	missense	probably damaging	1.00
R5302:Dlgap4	UTSW	2	156760898	missense	probably damaging	1.00
R5568:Dlgap4	UTSW	2	156762901	makesense	probably null
R5691:Dlgap4	UTSW	2	156704470	missense	probably benign
R5741:Dlgap4	UTSW	2	156711048	missense	probably damaging	1.00
R5917:Dlgap4	UTSW	2	156704540	missense	probably damaging	1.00
R6140:Dlgap4	UTSW	2	156762729	splice site	probably null
R6992:Dlgap4	UTSW	2	156748940	splice site	probably null
R7082:Dlgap4	UTSW	2	156748422	critical splice donor site	probably null
R7566:Dlgap4	UTSW	2	156762737	missense	probably benign	0.00
R7698:Dlgap4	UTSW	2	156749095	nonsense	probably null
R7767:Dlgap4	UTSW	2	156746053	missense	probably damaging	1.00
R7853:Dlgap4	UTSW	2	156705882	missense	probably benign
R7944:Dlgap4	UTSW	2	156749134	missense	probably damaging	0.96
R8366:Dlgap4	UTSW	2	156700774	nonsense	probably null
R8835:Dlgap4	UTSW	2	156746026	missense	probably damaging	0.99
R9136:Dlgap4	UTSW	2	156746155	missense	possibly damaging	0.78
R9288:Dlgap4	UTSW	2	156704594	missense	possibly damaging	0.89
R9289:Dlgap4	UTSW	2	156704594	missense	possibly damaging	0.89
R9296:Dlgap4	UTSW	2	156704594	missense	possibly damaging	0.89
R9319:Dlgap4	UTSW	2	156704594	missense	possibly damaging	0.89
R9480:Dlgap4	UTSW	2	156704594	missense	possibly damaging	0.89
R9522:Dlgap4	UTSW	2	156704594	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- CAAGCGCAACCTCTCCTATG -3'
(R):5'- AGGGAGCTACTATCATAATGCTCATC -3'

Sequencing Primer
(F):5'- TGGAGACAACAGCGACCCTG -3'
(R):5'- TCATAATGCTCATCTGGGAAGAGGTC -3'

Posted On

2015-04-06