Mutagenetix > Incidental Mutation

Incidental Mutation 'R9338:Dlgap2'

707305

Institutional Source

Beutler Lab

Gene Symbol

Dlgap2

Ensembl Gene

ENSMUSG00000047495

Gene Name

DLG associated protein 2

Synonyms

PSD-95/SAP90-binding protein 2, DAP2, Sapap2, 6430596N04Rik, SAP90/PSD-95-associated protein 2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14095865-14847680 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 14179683 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043279] [ENSMUST00000133298] [ENSMUST00000150247] [ENSMUST00000152652]

AlphaFold

Q8BJ42

Predicted Effect

probably benign
Transcript: ENSMUST00000043279

SMART Domains

Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495

Domain	Start	End	E-Value	Type
low complexity region	269	294	N/A	INTRINSIC
low complexity region	297	310	N/A	INTRINSIC
low complexity region	446	456	N/A	INTRINSIC
low complexity region	543	556	N/A	INTRINSIC
low complexity region	614	628	N/A	INTRINSIC
Pfam:GKAP	707	1059	1.5e-151	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000133298

SMART Domains

Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495

Domain	Start	End	E-Value	Type
low complexity region	269	294	N/A	INTRINSIC
low complexity region	297	310	N/A	INTRINSIC
low complexity region	446	456	N/A	INTRINSIC
low complexity region	543	556	N/A	INTRINSIC
low complexity region	614	628	N/A	INTRINSIC
Pfam:GKAP	707	1059	1.5e-151	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150247

SMART Domains

Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495

Domain	Start	End	E-Value	Type
low complexity region	269	294	N/A	INTRINSIC
low complexity region	297	310	N/A	INTRINSIC
low complexity region	446	456	N/A	INTRINSIC
low complexity region	543	556	N/A	INTRINSIC
low complexity region	614	628	N/A	INTRINSIC
Pfam:GKAP	707	1045	1e-151	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152652

SMART Domains

Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495

Domain	Start	End	E-Value	Type
low complexity region	270	295	N/A	INTRINSIC
low complexity region	298	311	N/A	INTRINSIC
low complexity region	447	457	N/A	INTRINSIC
low complexity region	544	557	N/A	INTRINSIC
low complexity region	615	629	N/A	INTRINSIC
Pfam:GKAP	715	1060	1.9e-160	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a membrane-associated protein that may play a role in synapse organization and signalling in neuronal cells. This gene is biallelically expressed in the brain, however, only the paternal allele is expressed in the testis (PMID:18055845). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2014]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,090,113	T22A	possibly damaging	Het
Adam30	G	A	3: 98,162,813	G654D	probably damaging	Het
Cct3	T	C	3: 88,318,399	V343A	probably benign	Het
Col11a2	A	G	17: 34,047,230	T358A	unknown	Het
Cox6a2	T	C	7: 128,205,742	Y94C	probably damaging	Het
Cubn	T	A	2: 13,381,892	I1521F	probably damaging	Het
Dclk3	C	A	9: 111,439,305	A14E	unknown	Het
Dopey2	C	A	16: 93,803,560	Q2042K	probably damaging	Het
Ech1	A	G	7: 28,826,002	S61G	probably null	Het
Ext2	T	A	2: 93,696,258	N678Y	probably damaging	Het
Fgfr2	G	T	7: 130,261,831	C28*	probably null	Het
Gm11487	T	C	4: 73,402,008	E178G	possibly damaging	Het
Gon4l	C	A	3: 88,901,712	D1754E	probably benign	Het
Hivep2	T	A	10: 14,128,949	C430*	probably null	Het
Htr7	C	T	19: 35,964,380		probably null	Het
Idh3b	A	T	2: 130,280,472	M331K	probably damaging	Het
Ighv2-7	A	T	12: 113,807,498	F56I	probably benign	Het
Inpp5k	C	T	11: 75,645,585	H330Y	probably damaging	Het
Kif26b	T	C	1: 178,916,493	Y1385H	probably damaging	Het
Mad1l1	A	G	5: 140,088,806	L543P	probably damaging	Het
Mdn1	A	T	4: 32,666,536	H158L	probably benign	Het
Mpp2	T	A	11: 102,060,423	T511S	probably benign	Het
Msh4	T	C	3: 153,867,807	I737V	possibly damaging	Het
Myo15b	T	C	11: 115,871,412	L1186P		Het
Nckap1l	A	G	15: 103,471,564	T346A	probably benign	Het
Nox4	G	A	7: 87,376,240	R525Q	probably benign	Het
Npy5r	T	C	8: 66,682,006	N45S	probably benign	Het
Olfr771	T	C	10: 129,160,741	N81S	probably benign	Het
Pde6a	G	A	18: 61,221,037	A145T	probably damaging	Het
Pfkp	A	C	13: 6,584,688	S678A	probably damaging	Het
Phxr2	A	G	10: 99,126,181		probably benign	Het
Pi4ka	C	A	16: 17,317,363	L942F		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pla2g4e	T	A	2: 120,189,433	T179S	probably benign	Het
Popdc2	G	A	16: 38,374,147	C310Y	probably benign	Het
Ppip5k1	C	T	2: 121,323,346	R113Q		Het
Prmt7	C	T	8: 106,235,033	R193C	unknown	Het
Prph	G	C	15: 99,057,478	R442P	probably damaging	Het
Prrc2b	A	G	2: 32,208,767	Y697C	probably damaging	Het
Ptprm	T	A	17: 66,762,148	R962S	probably damaging	Het
Raph1	A	G	1: 60,490,141	S654P	unknown	Het
Reln	A	G	5: 21,997,939	F1288L	probably damaging	Het
Rhot1	T	A	11: 80,254,742	I553N	probably benign	Het
Rnf168	T	C	16: 32,291,983		probably null	Het
Slamf6	T	A	1: 171,919,590		probably benign	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,853,553		probably benign	Het
Taf4b	C	T	18: 14,821,498	P544S	probably benign	Het
Tbc1d24	A	G	17: 24,208,403	V195A	probably benign	Het
Tomm70a	A	G	16: 57,122,036	M59V	probably benign	Het
Trip12	A	G	1: 84,749,298	S1184P	probably damaging	Het
Trrap	A	G	5: 144,791,115	S549G	probably benign	Het
Unc5d	T	A	8: 29,219,443		probably benign	Het
Ush2a	G	A	1: 188,576,292		probably null	Het
Usp45	T	C	4: 21,784,755	V147A	probably damaging	Het
Vmn2r77	T	A	7: 86,811,786	N773K	probably damaging	Het
Vps13c	A	T	9: 67,951,695	N2809I	probably damaging	Het
Yeats2	T	A	16: 20,213,328	S984R	possibly damaging	Het
Yeats2	T	A	16: 20,222,783	L1141Q	probably damaging	Het
Zfp58	T	A	13: 67,491,275	T366S	probably benign	Het

Other mutations in Dlgap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01476:Dlgap2	APN	8	14778301	nonsense	probably null
IGL01788:Dlgap2	APN	8	14843631	missense	probably benign	0.19
IGL02054:Dlgap2	APN	8	14843552	missense	probably damaging	0.98
IGL02969:Dlgap2	APN	8	14831579	missense	possibly damaging	0.95
IGL03183:Dlgap2	APN	8	14727525	missense	possibly damaging	0.62
IGL03303:Dlgap2	APN	8	14727812	missense	probably damaging	0.99
G1Funyon:Dlgap2	UTSW	8	14823577	missense	probably benign	0.27
PIT4403001:Dlgap2	UTSW	8	14831528	missense	probably damaging	1.00
R0026:Dlgap2	UTSW	8	14727363	nonsense	probably null
R0242:Dlgap2	UTSW	8	14727562	missense	probably benign	0.34
R0242:Dlgap2	UTSW	8	14727562	missense	probably benign	0.34
R0647:Dlgap2	UTSW	8	14727591	missense	possibly damaging	0.95
R1221:Dlgap2	UTSW	8	14726952	missense	probably benign	0.08
R1374:Dlgap2	UTSW	8	14831228	splice site	probably benign
R1440:Dlgap2	UTSW	8	14727060	missense	probably benign
R1544:Dlgap2	UTSW	8	14829861	splice site	probably null
R1550:Dlgap2	UTSW	8	14822499	missense	probably damaging	0.98
R1804:Dlgap2	UTSW	8	14727809	missense	possibly damaging	0.71
R1870:Dlgap2	UTSW	8	14773347	missense	probably damaging	1.00
R1921:Dlgap2	UTSW	8	14843624	missense	probably benign	0.10
R2119:Dlgap2	UTSW	8	14778206	missense	possibly damaging	0.69
R2193:Dlgap2	UTSW	8	14743431	missense	possibly damaging	0.51
R4381:Dlgap2	UTSW	8	14846502	missense	probably benign
R4422:Dlgap2	UTSW	8	14743463	critical splice donor site	probably null
R4521:Dlgap2	UTSW	8	14727871	missense	probably damaging	1.00
R4581:Dlgap2	UTSW	8	14846679	missense	probably damaging	1.00
R4585:Dlgap2	UTSW	8	14727999	critical splice donor site	probably null
R4760:Dlgap2	UTSW	8	14773380	missense	probably damaging	1.00
R5077:Dlgap2	UTSW	8	14822691	missense	probably benign	0.35
R5373:Dlgap2	UTSW	8	14823614	missense	probably benign	0.19
R5374:Dlgap2	UTSW	8	14823614	missense	probably benign	0.19
R5552:Dlgap2	UTSW	8	14831342	nonsense	probably null
R5964:Dlgap2	UTSW	8	14727128	nonsense	probably null
R6125:Dlgap2	UTSW	8	14727193	missense	possibly damaging	0.78
R6147:Dlgap2	UTSW	8	14727294	missense	probably benign	0.05
R6163:Dlgap2	UTSW	8	14846641	missense	probably damaging	1.00
R6269:Dlgap2	UTSW	8	14822369	missense	probably benign	0.01
R6629:Dlgap2	UTSW	8	14831465	missense	probably benign	0.00
R6765:Dlgap2	UTSW	8	14743284	missense	probably benign	0.00
R6809:Dlgap2	UTSW	8	14179619	intron	probably benign
R6913:Dlgap2	UTSW	8	14778374	missense	probably benign	0.10
R7219:Dlgap2	UTSW	8	14743296	missense	probably benign	0.00
R7485:Dlgap2	UTSW	8	14829952	missense	probably damaging	0.97
R7560:Dlgap2	UTSW	8	14822697	critical splice donor site	probably null
R7826:Dlgap2	UTSW	8	14743410	missense	probably benign	0.38
R7976:Dlgap2	UTSW	8	14743410	missense	probably benign	0.38
R8101:Dlgap2	UTSW	8	14831600	missense	probably benign	0.04
R8301:Dlgap2	UTSW	8	14823577	missense	probably benign	0.27
R8333:Dlgap2	UTSW	8	14778295	missense	probably benign	0.03
R8367:Dlgap2	UTSW	8	14843544	missense	probably benign	0.00
R8492:Dlgap2	UTSW	8	14778271	missense	possibly damaging	0.49
R8685:Dlgap2	UTSW	8	14831628	missense	possibly damaging	0.71
R8690:Dlgap2	UTSW	8	14743430	missense	probably benign	0.00
R8887:Dlgap2	UTSW	8	14179682	critical splice donor site	probably null
R9328:Dlgap2	UTSW	8	14727441	missense	probably damaging	1.00
R9465:Dlgap2	UTSW	8	14778226	missense	probably damaging	1.00
X0060:Dlgap2	UTSW	8	14839787	missense	probably damaging	1.00
Z1088:Dlgap2	UTSW	8	14822472	missense	probably benign	0.10
Z1177:Dlgap2	UTSW	8	14727659	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCAAGTCCCTATTGCTG -3'
(R):5'- TGACCACCTTGGCTCATCAG -3'

Sequencing Primer
(F):5'- TCAGTCTCCCGATTGCTGGG -3'
(R):5'- AGCTCCTCTCCAGTTGCCTAG -3'

Posted On

2022-04-18