Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01788:Dlgap2'

155146

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01788

Quality Score

Status

Chromosome

Chromosomal Location

14095865-14847680 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14843631 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 982 (I982K)

Ref Sequence

ENSEMBL: ENSMUSP00000123078 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043279
AA Change: I981K

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: I981K

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 benign
Transcript: ENSMUST00000133298
AA Change: I981K

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: I981K

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
AA Change: I967K

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: I967K

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
AA Change: I982K

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: I982K

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230009I02Rik	T	G	11: 51,091,715		noncoding transcript	Het
Acp6	A	G	3: 97,165,882	T80A	probably damaging	Het
Adamtsl5	T	C	10: 80,344,923	T102A	probably benign	Het
Adcy6	C	A	15: 98,596,519	E812*	probably null	Het
Apol6	G	A	15: 77,051,016	V162I	possibly damaging	Het
Atp6v1h	T	A	1: 5,149,983	M396K	possibly damaging	Het
B3gnt8	A	G	7: 25,629,188	T348A	probably damaging	Het
Cgnl1	A	G	9: 71,655,390	V869A	probably benign	Het
Dcaf5	A	T	12: 80,348,324	I357N	probably damaging	Het
Dennd4a	A	G	9: 64,842,621	I165V	probably benign	Het
Dopey1	A	T	9: 86,531,719	H1891L	probably benign	Het
Fhad1	A	C	4: 141,932,802	S65R	probably benign	Het
Fn1	A	G	1: 71,613,837	I1331T	probably damaging	Het
Fto	A	T	8: 91,409,731	Y211F	probably benign	Het
Gm3278	A	C	14: 4,893,332	R60S	probably benign	Het
Ifna9	A	G	4: 88,591,860	S176P	probably damaging	Het
Klk1	T	C	7: 44,228,983	I189T	probably benign	Het
Mcph1	G	A	8: 18,632,403	G519R	probably damaging	Het
Mcph1	G	A	8: 18,632,404	G519E	probably damaging	Het
N4bp1	A	T	8: 86,860,996	V438E	probably benign	Het
Ncapg	T	A	5: 45,671,081	V58E	probably damaging	Het
Nid2	T	A	14: 19,807,979	S1054T	probably damaging	Het
Nlrp4a	A	T	7: 26,454,067	Y681F	probably benign	Het
Olfr1308	T	C	2: 111,961,007	D22G	probably benign	Het
Olfr1442	G	A	19: 12,675,078	R291K	probably damaging	Het
Olfr603	C	A	7: 103,383,563	M146I	probably benign	Het
Olfr726	A	G	14: 50,084,502	Y60H	probably damaging	Het
Papln	A	T	12: 83,775,462	T364S	probably benign	Het
Pcdh18	C	A	3: 49,755,922	E315*	probably null	Het
Pmel	G	A	10: 128,717,832	R445Q	probably damaging	Het
Ppp1r12b	C	T	1: 134,893,507	V182I	possibly damaging	Het
Ptprn2	A	G	12: 116,900,987	T541A	probably damaging	Het
Rbl1	A	T	2: 157,163,656	N813K	probably benign	Het
Sash1	C	A	10: 8,733,646	R713L	probably benign	Het
Slc13a1	T	G	6: 24,134,372	T171P	probably damaging	Het
Slc18b1	G	T	10: 23,826,001	E407D	probably damaging	Het
Slc2a6	G	A	2: 27,024,215	Q297*	probably null	Het
Vmn1r209	T	C	13: 22,805,662	H286R	probably damaging	Het
Vmn1r28	C	A	6: 58,265,537	H122N	probably benign	Het
Wfs1	A	G	5: 36,968,636	Y304H	probably benign	Het
Zfp512b	A	G	2: 181,588,763	S445P	possibly damaging	Het

Other mutations in Dlgap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01476:Dlgap2	APN	8	14778301	nonsense	probably null
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
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
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

Posted On

2014-02-04