Mutagenetix > Incidental Mutations

Incidental Mutation 'R6163:Dlgap2'

489975

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 #

R6163 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14095865-14847680 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14846641 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1039 (Q1039L)

Ref Sequence

ENSEMBL: ENSMUSP00000123078 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000043279
AA Change: Q1038L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: Q1038L

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

noncoding transcript
Transcript: ENSMUST00000129119

Predicted Effect

probably damaging
Transcript: ENSMUST00000133298
AA Change: Q1038L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: Q1038L

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

possibly damaging
Transcript: ENSMUST00000150247
AA Change: Q1024L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: Q1024L

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 damaging
Transcript: ENSMUST00000152652
AA Change: Q1039L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: Q1039L

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.5%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	T	5: 145,045,288	Q228*	probably null	Het
4922502D21Rik	C	T	6: 129,326,747	R85H	probably benign	Het
Asic5	A	G	3: 82,006,526	N169S	probably damaging	Het
Atad2b	T	A	12: 4,954,593	L374H	probably benign	Het
BC080695	A	G	4: 143,572,035	K183E	probably damaging	Het
Birc2	G	A	9: 7,819,035	T544I	probably benign	Het
Blm	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCCTCCTCC	7: 80,512,904		probably benign	Het
Cc2d2b	C	T	19: 40,756,506	T23I	probably benign	Het
Ccdc137	G	T	11: 120,460,101	R108L	possibly damaging	Het
Cenpe	T	C	3: 135,269,003	I2308T	probably damaging	Het
Cpt1b	T	C	15: 89,424,417	T103A	probably benign	Het
Cpvl	C	A	6: 53,873,518	V445F	probably damaging	Het
Cttnbp2	A	G	6: 18,434,951	S303P	possibly damaging	Het
Cyp17a1	T	A	19: 46,669,322	I264F	possibly damaging	Het
Cyp51	T	A	5: 4,100,199	I175F	probably damaging	Het
Dennd4c	C	T	4: 86,805,591	P695S	possibly damaging	Het
Dnah14	T	C	1: 181,666,361	L1694P	probably benign	Het
Dnah2	G	A	11: 69,520,903	Q298*	probably null	Het
Dsg2	G	T	18: 20,598,669		probably null	Het
Esr2	A	C	12: 76,121,869	V522G	probably damaging	Het
Fmo9	T	A	1: 166,667,393	H262L	probably benign	Het
Glb1l	T	A	1: 75,201,407	M373L	probably benign	Het
Gls	A	G	1: 52,215,576	S247P	probably benign	Het
Gm37240	T	A	3: 84,515,785	E213D	probably damaging	Het
Gmip	T	A	8: 69,817,372	V675E	probably benign	Het
Grb10	C	A	11: 11,943,932	E330*	probably null	Het
Hist1h2ai	A	T	13: 21,716,689	N90Y	probably damaging	Het
Hivep2	A	G	10: 14,129,992	K778R	probably damaging	Het
Ighv1-26	T	C	12: 114,788,796	S4G	probably benign	Het
Igkv3-3	T	A	6: 70,687,273	V33E	possibly damaging	Het
Itga2	C	A	13: 114,866,190	G588V	probably damaging	Het
Itpr1	C	T	6: 108,388,284	H58Y	probably damaging	Het
Jmjd1c	T	A	10: 67,248,048	D2365E	possibly damaging	Het
Limk1	T	C	5: 134,657,955	Y518C	probably damaging	Het
March6	G	C	15: 31,465,351	H802Q	probably benign	Het
Mark2	A	G	19: 7,290,761	S26P	probably benign	Het
Mdn1	T	A	4: 32,716,040	L2074Q	probably damaging	Het
Mrpl37	T	C	4: 107,064,596	E174G	possibly damaging	Het
Mtcl1	T	C	17: 66,379,331	H860R	probably benign	Het
Neurod1	A	G	2: 79,454,161	F293L	probably benign	Het
Nwd1	C	T	8: 72,662,186	R81W	probably damaging	Het
Nwd2	C	A	5: 63,805,788	A905E	probably benign	Het
Olfr1375	T	A	11: 51,048,768	Y220*	probably null	Het
Olfr1445	A	C	19: 12,884,108	T76P	probably damaging	Het
Olfr307	A	T	7: 86,336,384	I4N	possibly damaging	Het
Olfr860	A	G	9: 19,845,728	I297T	probably benign	Het
Otop1	C	A	5: 38,287,890		probably null	Het
Otp	A	G	13: 94,875,780	H4R	probably damaging	Het
P4htm	A	C	9: 108,581,951	Y261D	probably damaging	Het
Pcsk5	A	T	19: 17,473,041	C1148S	probably damaging	Het
Plekhg1	A	T	10: 3,964,369	R1419W	probably damaging	Het
Prkd3	C	A	17: 78,966,355	D491Y	possibly damaging	Het
Prr11	A	C	11: 87,103,628	L64R	possibly damaging	Het
Pygo1	G	T	9: 72,944,698	A56S	probably damaging	Het
Rexo5	A	G	7: 119,805,247	T189A	probably damaging	Het
Rnf213	A	T	11: 119,458,428	H3784L	possibly damaging	Het
Rps6ka5	T	G	12: 100,595,920		probably null	Het
Slco2b1	T	A	7: 99,688,899	I93F	probably damaging	Het
Slfn8	T	C	11: 83,003,864	*408W	probably null	Het
Sptbn1	C	A	11: 30,159,443	E51*	probably null	Het
Ssc5d	T	A	7: 4,927,254	H111Q	probably damaging	Het
Sult1c1	T	C	17: 53,973,953	N41D	probably benign	Het
Taar8c	G	A	10: 24,101,218	T232I	probably benign	Het
Tdo2	T	C	3: 81,975,403	E2G	possibly damaging	Het
Tff2	T	C	17: 31,144,178	E24G	probably benign	Het
Tjp2	C	A	19: 24,125,704		probably null	Het
Tnfrsf1b	A	T	4: 145,219,907	D311E	probably benign	Het
Usp15	G	T	10: 123,168,305	N181K	probably damaging	Het
Vmn1r175	T	G	7: 23,809,166	E12A	possibly damaging	Het
Vmn1r47	T	C	6: 90,022,791	S302P	probably damaging	Het
Vmn2r58	A	G	7: 41,837,401	M690T	probably benign	Het
Wee1	T	A	7: 110,135,651	H465Q	probably damaging	Het
Zfr	C	T	15: 12,146,245	A294V	unknown	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
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
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
X0060:Dlgap2	UTSW	8	14839787	missense	probably damaging	1.00
Z1088:Dlgap2	UTSW	8	14822472	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GACCTTCTCTGACTTGTGATGC -3'
(R):5'- AATTGGAGCATCCGTCCACTG -3'

Sequencing Primer
(F):5'- CTTTTCAGGAAGAAAGGAAGATCCCC -3'
(R):5'- TGTCCACAGTGCAGAGAAC -3'

Posted On

2017-10-10