Mutagenetix > Incidental Mutation

Incidental Mutation 'R0645:Dlgap4'

57040

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

038830-MU

Accession Numbers

Essential gene?

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

Stock #

R0645 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156455625-156606283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 156603799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 887 (H887R)

Ref Sequence

ENSEMBL: ENSMUSP00000105196 (fasta)

Gene Model

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

AlphaFold

B1AZP2

Predicted Effect

probably damaging
Transcript: ENSMUST00000000094
AA Change: H210R

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000000094
Gene: ENSMUSG00000061689
AA Change: H210R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000070782
AA Change: H901R

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000068745
Gene: ENSMUSG00000061689
AA Change: H901R

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

possibly damaging
Transcript: ENSMUST00000099145
AA Change: H365R

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096749
Gene: ENSMUSG00000061689
AA Change: H365R

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 damaging
Transcript: ENSMUST00000109566
AA Change: H197R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105194
Gene: ENSMUSG00000061689
AA Change: H197R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109567
AA Change: H901R

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105195
Gene: ENSMUSG00000061689
AA Change: H901R

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 damaging
Transcript: ENSMUST00000109568
AA Change: H887R

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

SMART Domains

Protein: ENSMUSP00000105196
Gene: ENSMUSG00000061689
AA Change: H887R

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: ENSMUST00000123730

Predicted Effect

probably damaging
Transcript: ENSMUST00000169464
AA Change: H904R

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126980
Gene: ENSMUSG00000061689
AA Change: H904R

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

possibly damaging
Transcript: ENSMUST00000131157
AA Change: H80R

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

SMART Domains

Protein: ENSMUSP00000134941
Gene: ENSMUSG00000061689
AA Change: H80R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000171030
AA Change: H197R

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129756
Gene: ENSMUSG00000061689
AA Change: H197R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127944

Meta Mutation Damage Score

0.2586

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (94/95)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	G	T	8: 25,162,136 (GRCm39)	Y46*	probably null	Het
Adam26b	A	C	8: 43,973,524 (GRCm39)	C493G	probably damaging	Het
Ak5	A	T	3: 152,359,252 (GRCm39)	L182Q	probably damaging	Het
Akt1s1	T	C	7: 44,498,645 (GRCm39)		probably benign	Het
Amhr2	G	T	15: 102,354,863 (GRCm39)	G133C	probably damaging	Het
Btbd9	A	T	17: 30,743,941 (GRCm39)	L187Q	probably damaging	Het
Ccdc117	A	T	11: 5,484,385 (GRCm39)		probably benign	Het
Ccdc138	A	T	10: 58,411,542 (GRCm39)	I637F	probably damaging	Het
Ccdc162	A	G	10: 41,462,407 (GRCm39)		probably benign	Het
Cdc25b	C	A	2: 131,033,533 (GRCm39)	H157Q	probably benign	Het
Cdon	A	G	9: 35,388,379 (GRCm39)		probably null	Het
Cdt1	G	A	8: 123,298,884 (GRCm39)		probably benign	Het
Cep350	C	T	1: 155,816,458 (GRCm39)		probably null	Het
Cfb	T	C	17: 35,078,992 (GRCm39)	K831R	probably benign	Het
Cldn4	C	A	5: 134,975,645 (GRCm39)		probably benign	Het
Cntnap5b	T	C	1: 99,999,767 (GRCm39)		probably benign	Het
Cyp27b1	T	G	10: 126,884,967 (GRCm39)	S77A	probably benign	Het
Dlc1	T	C	8: 37,041,203 (GRCm39)	D1342G	possibly damaging	Het
Duox2	A	G	2: 122,123,139 (GRCm39)	I503T	probably damaging	Het
Eml4	T	C	17: 83,770,922 (GRCm39)		probably benign	Het
Ermap	A	G	4: 119,042,888 (GRCm39)	S212P	probably benign	Het
Esrrg	T	A	1: 187,775,538 (GRCm39)	C22S	probably benign	Het
Evx2	T	A	2: 74,488,238 (GRCm39)	Y194F	possibly damaging	Het
Fbn2	T	G	18: 58,191,461 (GRCm39)	D1554A	probably damaging	Het
Flrt1	G	A	19: 7,074,508 (GRCm39)		probably benign	Het
Fndc5	A	G	4: 129,033,630 (GRCm39)		probably benign	Het
Frem1	A	T	4: 82,907,403 (GRCm39)	I837N	probably damaging	Het
Fzd10	G	T	5: 128,679,662 (GRCm39)	A461S	possibly damaging	Het
Ganab	T	A	19: 8,888,477 (GRCm39)	Y511N	probably damaging	Het
Gbp7	A	G	3: 142,243,926 (GRCm39)		probably null	Het
Gm5919	T	A	9: 83,765,436 (GRCm39)	C91S	unknown	Het
Gpr31b	A	T	17: 13,271,093 (GRCm39)	C25*	probably null	Het
Grb10	A	G	11: 11,886,755 (GRCm39)	S505P	probably damaging	Het
Grm4	A	T	17: 27,654,183 (GRCm39)	V542E	probably damaging	Het
Gsta5	T	C	9: 78,206,303 (GRCm39)	I75T	possibly damaging	Het
Hivep3	G	A	4: 119,954,531 (GRCm39)	R949H	possibly damaging	Het
Hycc1	C	T	5: 24,184,506 (GRCm39)	G242D	probably damaging	Het
Invs	A	T	4: 48,407,653 (GRCm39)	M543L	probably benign	Het
Kcnk2	T	C	1: 188,988,927 (GRCm39)		probably null	Het
Kdm6b	A	T	11: 69,295,844 (GRCm39)	S808T	unknown	Het
Klhl30	C	T	1: 91,283,228 (GRCm39)	R277W	probably damaging	Het
Lama1	A	G	17: 68,080,707 (GRCm39)	Q1245R	probably benign	Het
Lingo3	G	T	10: 80,671,169 (GRCm39)	H254N	probably benign	Het
Lzts1	A	T	8: 69,588,392 (GRCm39)	H521Q	possibly damaging	Het
Map3k19	A	C	1: 127,749,919 (GRCm39)	I1144S	possibly damaging	Het
Mast2	T	C	4: 116,170,043 (GRCm39)		probably benign	Het
Mast2	A	G	4: 116,165,184 (GRCm39)	S1411P	probably damaging	Het
Mesp1	G	T	7: 79,442,328 (GRCm39)	S225R	possibly damaging	Het
Micu1	A	G	10: 59,675,503 (GRCm39)	T366A	possibly damaging	Het
Mideas	G	T	12: 84,205,077 (GRCm39)	N834K	possibly damaging	Het
Mknk2	T	C	10: 80,507,742 (GRCm39)		probably null	Het
Msh5	A	G	17: 35,258,199 (GRCm39)	L309P	probably damaging	Het
Myo7b	T	C	18: 32,127,962 (GRCm39)	I577V	probably benign	Het
Myom2	T	A	8: 15,167,698 (GRCm39)	D1094E	probably damaging	Het
Nedd1	T	C	10: 92,527,693 (GRCm39)		probably null	Het
Neu4	T	C	1: 93,950,191 (GRCm39)	L50S	probably damaging	Het
Noa1	T	C	5: 77,457,722 (GRCm39)	Y61C	probably benign	Het
Nr1h4	A	T	10: 89,342,390 (GRCm39)	M30K	probably benign	Het
Nsd3	A	G	8: 26,199,096 (GRCm39)	I1219V	probably benign	Het
Nup188	T	A	2: 30,233,478 (GRCm39)		probably null	Het
Or10ag2	T	A	2: 87,248,612 (GRCm39)	Y71*	probably null	Het
Or5al5	A	G	2: 85,961,378 (GRCm39)	S210P	probably damaging	Het
Or6c208	T	A	10: 129,224,162 (GRCm39)	I220N	possibly damaging	Het
Or6k2	A	T	1: 173,986,920 (GRCm39)	T194S	probably benign	Het
Pbk	G	A	14: 66,051,245 (GRCm39)		probably benign	Het
Pcnx2	G	A	8: 126,487,459 (GRCm39)	T1848M	possibly damaging	Het
Pdzd7	C	T	19: 45,033,914 (GRCm39)	G57R	possibly damaging	Het
Pik3r4	C	A	9: 105,546,386 (GRCm39)		probably benign	Het
Plce1	A	G	19: 38,766,433 (GRCm39)	S2153G	probably damaging	Het
Potefam1	C	T	2: 111,044,928 (GRCm39)		probably null	Het
Pphln1	G	A	15: 93,318,192 (GRCm39)	V34M	possibly damaging	Het
Prrc2a	T	C	17: 35,375,308 (GRCm39)	D1114G	probably damaging	Het
Prss16	T	C	13: 22,193,546 (GRCm39)		probably benign	Het
Rtp3	T	C	9: 110,816,168 (GRCm39)	K128E	probably damaging	Het
Scn3a	T	A	2: 65,355,194 (GRCm39)	I241F	possibly damaging	Het
Setd1a	G	A	7: 127,386,382 (GRCm39)	V336I	probably damaging	Het
Sfpq	A	G	4: 126,916,762 (GRCm39)	I320V	possibly damaging	Het
Skint5	A	T	4: 113,620,679 (GRCm39)	D678E	unknown	Het
Slc12a9	G	A	5: 137,313,638 (GRCm39)	P774S	probably benign	Het
Slc25a54	C	G	3: 109,019,481 (GRCm39)	L362V	possibly damaging	Het
Smarcd1	A	G	15: 99,605,267 (GRCm39)		probably null	Het
Spata31e5	T	A	1: 28,816,011 (GRCm39)	N674Y	probably damaging	Het
Suco	A	T	1: 161,661,683 (GRCm39)	M916K	probably damaging	Het
Tiam2	T	C	17: 3,564,973 (GRCm39)	S1404P	possibly damaging	Het
Topors	T	C	4: 40,260,333 (GRCm39)	T984A	unknown	Het
Trabd2b	A	T	4: 114,443,767 (GRCm39)	K308M	probably damaging	Het
Trmo	A	T	4: 46,377,083 (GRCm39)		probably benign	Het
Trpc3	A	T	3: 36,725,654 (GRCm39)	D107E	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Uggt2	A	C	14: 119,295,010 (GRCm39)	Y539D	probably benign	Het
Wwc2	T	G	8: 48,353,674 (GRCm39)		probably benign	Het
Zdbf2	T	A	1: 63,344,109 (GRCm39)	D829E	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
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
R7082:Dlgap4	UTSW	2	156,590,342 (GRCm39)	critical splice donor 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'- TGCCACCATCCTGTGATAGCAAAC -3'
(R):5'- TAGGGATAGCCTCCACTACACAGC -3'

Sequencing Primer
(F):5'- AGTCACCTGCATTGCAAGG -3'
(R):5'- CCGCAAGGTGATGGACG -3'

Posted On

2013-07-11