Mutagenetix > Incidental Mutation

Incidental Mutation 'R2264:Dlgap4'

243975

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

040264-MU

Accession Numbers

Essential gene?

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

Stock #

R2264 (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 156543383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 262 (E262G)

Ref Sequence

ENSEMBL: ENSMUSP00000126980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070782] [ENSMUST00000109567] [ENSMUST00000109568] [ENSMUST00000169464]

AlphaFold

B1AZP2

Predicted Effect

probably benign
Transcript: ENSMUST00000070782
AA Change: E262G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000068745
Gene: ENSMUSG00000061689
AA Change: E262G

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: ENSMUST00000109567
AA Change: E262G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105195
Gene: ENSMUSG00000061689
AA Change: E262G

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: E262G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105196
Gene: ENSMUSG00000061689
AA Change: E262G

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 benign
Transcript: ENSMUST00000169464
AA Change: E262G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126980
Gene: ENSMUSG00000061689
AA Change: E262G

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

Meta Mutation Damage Score

0.1008

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

94% (65/69)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,901,100 (GRCm39)	S1042P	probably damaging	Het
Armc1	C	T	3: 19,189,033 (GRCm39)	V211I	probably damaging	Het
B4galnt3	T	C	6: 120,180,771 (GRCm39)	*986W	probably null	Het
BC024139	T	A	15: 76,010,117 (GRCm39)	D105V	probably damaging	Het
BC049715	C	T	6: 136,817,434 (GRCm39)	Q225*	probably null	Het
Cadps2	T	C	6: 23,323,339 (GRCm39)	H1043R	probably benign	Het
Ccdc42	T	C	11: 68,478,477 (GRCm39)	V33A	probably benign	Het
Cldn1	A	G	16: 26,177,949 (GRCm39)	Y159H	probably damaging	Het
Cog6	A	T	3: 52,900,332 (GRCm39)	C476*	probably null	Het
Col14a1	T	G	15: 55,330,086 (GRCm39)		probably null	Het
Crisp1	C	T	17: 40,623,965 (GRCm39)	M1I	probably null	Het
Dip2b	T	A	15: 100,101,097 (GRCm39)	S1297T	probably benign	Het
Dnai7	A	G	6: 145,154,155 (GRCm39)		probably benign	Het
Dpp4	A	C	2: 62,208,583 (GRCm39)	V187G	possibly damaging	Het
F5	A	G	1: 164,021,971 (GRCm39)	D1482G	probably benign	Het
Fads6	T	A	11: 115,177,061 (GRCm39)	T132S	probably damaging	Het
Fat4	A	G	3: 38,944,571 (GRCm39)	I1155V	probably benign	Het
Fermt1	C	T	2: 132,757,110 (GRCm39)		probably null	Het
Fstl1	C	T	16: 37,597,653 (GRCm39)		probably benign	Het
Get3	G	A	8: 85,751,887 (GRCm39)		probably benign	Het
Gm5089	T	C	14: 122,673,514 (GRCm39)	Y69C	unknown	Het
Gm9871	T	C	6: 101,773,201 (GRCm39)		noncoding transcript	Het
Gpr89	A	G	3: 96,779,831 (GRCm39)	S375P	probably damaging	Het
Gtf2h4	A	G	17: 35,979,556 (GRCm39)		probably benign	Het
Gtsf1	T	A	15: 103,328,391 (GRCm39)	N148I	possibly damaging	Het
Hexa	T	C	9: 59,462,660 (GRCm39)	S129P	probably damaging	Het
Iigp1	A	T	18: 60,523,738 (GRCm39)	E285D	probably benign	Het
Il23r	T	A	6: 67,403,651 (GRCm39)		probably null	Het
Iqch	T	C	9: 63,419,581 (GRCm39)	K463R	probably benign	Het
Kcnd1	A	G	X: 7,690,323 (GRCm39)		probably null	Het
Kif26b	A	T	1: 178,756,407 (GRCm39)		probably null	Het
Loxl1	A	G	9: 58,204,961 (GRCm39)	V418A	probably damaging	Het
Lrp2	T	C	2: 69,312,710 (GRCm39)	D2526G	possibly damaging	Het
Map4	G	T	9: 109,910,525 (GRCm39)	G851C	probably damaging	Het
Mtmr11	A	T	3: 96,076,413 (GRCm39)	E456V	possibly damaging	Het
Muc13	G	A	16: 33,628,409 (GRCm39)		probably null	Het
Myo18a	C	A	11: 77,710,798 (GRCm39)		probably benign	Het
Nphp4	T	A	4: 152,587,465 (GRCm39)		probably benign	Het
Nrg3	T	C	14: 38,103,659 (GRCm39)	E445G	probably damaging	Het
Ntrk1	A	G	3: 87,686,941 (GRCm39)		probably null	Het
Or8b1	G	T	9: 38,399,351 (GRCm39)	V9L	possibly damaging	Het
Parp6	T	C	9: 59,531,288 (GRCm39)	S57P	probably damaging	Het
Pcdhb12	A	G	18: 37,569,858 (GRCm39)	N335D	probably damaging	Het
Pdzph1	T	C	17: 59,195,162 (GRCm39)		probably null	Het
Pea15a	C	T	1: 172,026,704 (GRCm39)	R79H	probably benign	Het
Pik3ca	A	C	3: 32,492,076 (GRCm39)	I225L	possibly damaging	Het
Pim3	T	A	15: 88,748,793 (GRCm39)	I270N	probably damaging	Het
Pkd1l1	T	A	11: 8,829,112 (GRCm39)	R1043S	probably damaging	Het
Plekhg6	A	G	6: 125,354,431 (GRCm39)	S70P	probably benign	Het
Ptpn13	T	A	5: 103,637,527 (GRCm39)	D138E	possibly damaging	Het
Rap1gap	T	C	4: 137,455,034 (GRCm39)	L354P	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Sf3a1	T	A	11: 4,127,443 (GRCm39)	S590T	probably benign	Het
Slc14a2	T	C	18: 78,206,304 (GRCm39)		probably benign	Het
Slfn3	T	G	11: 83,103,798 (GRCm39)	I223S	probably benign	Het
Smarca1	C	T	X: 46,964,160 (GRCm39)	V331I	probably benign	Het
Soat1	A	G	1: 156,265,267 (GRCm39)		probably benign	Het
Tinagl1	A	G	4: 130,061,226 (GRCm39)	V308A	probably benign	Het
Tomm22	T	A	15: 79,555,488 (GRCm39)	Y78N	probably damaging	Het
Ttll1	T	C	15: 83,380,609 (GRCm39)	Y252C	probably damaging	Het
Ttn	C	T	2: 76,623,474 (GRCm39)	V15368I	probably benign	Het
Ubr4	T	C	4: 139,147,684 (GRCm39)		probably benign	Het
Wbp2	T	C	11: 115,970,424 (GRCm39)		probably null	Het
Xkr7	A	T	2: 152,896,177 (GRCm39)	I344F	probably damaging	Het
Zfp947	A	T	17: 22,364,919 (GRCm39)	C252S	probably benign	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
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'- TCACTAAGGCACCCTCCATG -3'
(R):5'- GACTTGAGCAGGCTCTTATCC -3'

Sequencing Primer
(F):5'- TCCAACATCTCAGGCTGGTG -3'
(R):5'- CTTGAGCAGGCTCTTATCCAAAGTG -3'

Posted On

2014-10-16