Mutagenetix > Incidental Mutation

Incidental Mutation 'R8301:Dlgap2'

639265

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

MMRRC Submission

067789-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8301 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14095865-14847680 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14823577 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 727 (S727T)

Ref Sequence

ENSEMBL: ENSMUSP00000123078 (fasta)

Gene Model

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

AlphaFold

Q8BJ42

Predicted Effect

probably benign
Transcript: ENSMUST00000043279
AA Change: S726T

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: S726T

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: ENSMUST00000133298
AA Change: S726T

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: S726T

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
AA Change: S727T

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: S727T

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

Meta Mutation Damage Score

0.1131

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 87,972,505	I374F	probably benign	Het
Ak9	G	A	10: 41,424,716	V1108I		Het
Aldh16a1	C	T	7: 45,141,982	A790T	possibly damaging	Het
Anks1	A	T	17: 28,059,580		probably benign	Het
Antxr2	T	G	5: 97,977,679	T240P	probably benign	Het
Arfgef1	A	T	1: 10,179,833	M945K	probably damaging	Het
Arhgef17	T	C	7: 100,879,659	T1591A	probably benign	Het
Aurka	A	G	2: 172,356,930	S374P	probably damaging	Het
Bccip	T	C	7: 133,719,204	S236P	probably benign	Het
Cacna1s	T	A	1: 136,073,441		probably benign	Het
Calm1	A	G	12: 100,205,685	E132G	probably benign	Het
Casz1	A	G	4: 148,946,043	D1173G	probably damaging	Het
Cdh17	A	G	4: 11,795,659	D413G	probably damaging	Het
Cfap57	A	G	4: 118,593,074	I617T	possibly damaging	Het
Creb5	A	G	6: 53,681,033	D116G	possibly damaging	Het
Csnka2ip	A	C	16: 64,478,991	S337A	unknown	Het
Ddx60	A	G	8: 62,000,597	E1250G	probably benign	Het
Dpy19l1	T	C	9: 24,485,111		probably benign	Het
Ebf2	A	G	14: 67,238,982	T134A	possibly damaging	Het
Echdc2	A	T	4: 108,172,909	M136L	probably benign	Het
Enpp2	A	G	15: 54,851,407	F598S	probably benign	Het
Extl3	A	C	14: 65,076,284	L483R	probably damaging	Het
Gcat	T	C	15: 79,035,889	V227A	possibly damaging	Het
Hsf2	A	G	10: 57,505,346	D344G	probably damaging	Het
Ighm	C	T	12: 113,421,545	G265D		Het
Igsf9b	T	G	9: 27,334,739		probably benign	Het
Ints6	A	G	14: 62,702,453	V596A	probably benign	Het
Ints8	T	C	4: 11,246,120	E182G	probably damaging	Het
Iqgap2	A	G	13: 95,682,151		probably null	Het
Kalrn	G	T	16: 34,357,100	Q250K	probably benign	Het
Lrrc1	T	A	9: 77,544,488	N46Y	probably damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Naa50	A	G	16: 44,157,131	N74S	probably benign	Het
Neb	T	C	2: 52,288,835	N1303S	probably benign	Het
Nfs1	A	T	2: 156,134,493	C160*	probably null	Het
Olfr472	A	G	7: 107,903,626	K303R	probably benign	Het
Olfr591	T	G	7: 103,173,073	K188T	probably damaging	Het
Olfr740	T	A	14: 50,453,564	S171T	probably benign	Het
Olfr809	T	C	10: 129,776,840	S309P	probably benign	Het
Orm2	T	C	4: 63,363,026	F67S	possibly damaging	Het
Pex5	A	G	6: 124,405,183	S180P	probably benign	Het
Phf14	G	C	6: 11,992,062	G746R	probably damaging	Het
Pkm	T	A	9: 59,668,631	V110E	probably damaging	Het
Plekha6	T	G	1: 133,264,687	N78K	probably damaging	Het
Plxna2	G	A	1: 194,790,175	V1076I	probably benign	Het
Polq	C	A	16: 37,061,819	D1448E	probably damaging	Het
Pot1b	T	C	17: 55,687,895	T256A	probably benign	Het
Prkch	C	T	12: 73,702,764	T377I	possibly damaging	Het
Prl3c1	A	C	13: 27,199,185		probably benign	Het
Prl7b1	A	C	13: 27,602,772	V158G	possibly damaging	Het
Prss22	T	C	17: 23,993,981	S261G	probably damaging	Het
Psd	T	C	19: 46,321,102		probably benign	Het
Psg18	A	T	7: 18,353,377	Y119N	probably damaging	Het
Rbm6	T	G	9: 107,852,794	R218S	probably damaging	Het
Rnf213	T	A	11: 119,434,742	S1491T		Het
Rsf1	T	C	7: 97,661,925	S621P		Het
Runx1	C	A	16: 92,605,656	*466L	probably null	Het
Samd4	A	G	14: 47,016,678	I200V	probably benign	Het
Sdsl	C	T	5: 120,459,519	C241Y	probably benign	Het
Selenon	T	C	4: 134,551,414		probably benign	Het
Setx	C	T	2: 29,145,690	P729L	possibly damaging	Het
Sf1	C	T	19: 6,368,366	Q55*	probably null	Het
Slc12a5	A	T	2: 164,993,691	N833I	probably damaging	Het
Slc1a4	T	C	11: 20,332,286	R63G	probably damaging	Het
Tmeff2	G	T	1: 51,181,837	A324S	probably benign	Het
Tmem217	A	G	17: 29,526,492	I88T	possibly damaging	Het
Tnfsf8	A	T	4: 63,860,878	I61N	probably benign	Het
Tpbgl	G	T	7: 99,625,567	A361E	probably damaging	Het
Trhde	T	A	10: 114,487,006	E667V	probably benign	Het
Unc13b	A	G	4: 43,263,568	T1598A	probably benign	Het
Vmn2r73	A	T	7: 85,858,302	C601S	probably benign	Het
Zfp873	C	A	10: 82,060,879	H481Q	probably damaging	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
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
R9338:Dlgap2	UTSW	8	14179683	critical splice donor site	probably null
R9465:Dlgap2	UTSW	8	14778226	missense	probably damaging	1.00
R9680:Dlgap2	UTSW	8	14846653	missense	probably damaging	0.98
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'- TGCCAACGTAGGTTTGCCTC -3'
(R):5'- TGATGCACCCAACAGAGTG -3'

Sequencing Primer
(F):5'- TCAGCTCAGCCTGTGTGG -3'
(R):5'- CGAGCTTGGATTTGGAGA -3'

Posted On

2020-07-28