Mutagenetix > Incidental Mutation

Incidental Mutation 'R8101:Dlgap2'

630512

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8101 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14095865-14847680 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14831600 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 891 (C891R)

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: C890R

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: C890R

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: C890R

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: C890R

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 damaging
Transcript: ENSMUST00000150247
AA Change: C876R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: C876R

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: C891R

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: C891R

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: 99.7%
10x: 98.8%
20x: 94.1%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,008,502	K3388E	probably damaging	Het
Aldh3b2	A	T	19: 3,978,134	Q92L	probably benign	Het
Arhgap35	A	T	7: 16,562,319	D940E	probably benign	Het
BC067074	C	T	13: 113,320,891	T1157I		Het
Birc3	A	C	9: 7,861,004	S104R	probably benign	Het
Bloc1s4	A	G	5: 36,748,141	F169L	probably benign	Het
Cacna1s	C	T	1: 136,118,665	S1725F	probably benign	Het
Cadm2	A	T	16: 66,812,842	S139R	possibly damaging	Het
Ccdc188	G	T	16: 18,218,012	R17L	probably benign	Het
Cfap54	T	C	10: 92,884,796	T2599A	unknown	Het
Ddx10	T	C	9: 53,225,520	K364R	probably damaging	Het
Dnah17	T	A	11: 118,125,918	Y269F	probably benign	Het
Dock1	A	G	7: 134,999,288	D984G	possibly damaging	Het
Dyrk4	T	A	6: 126,891,649	T297S	possibly damaging	Het
Efemp2	C	T	19: 5,476,218	Q124*	probably null	Het
Erich3	A	G	3: 154,733,513	E264G	probably damaging	Het
Fam208a	A	G	14: 27,442,481	D248G	possibly damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Got1l1	G	T	8: 27,200,302	L114I	possibly damaging	Het
Gpr139	A	G	7: 119,184,287	C30R	probably benign	Het
Gstt4	T	C	10: 75,818,514	I113V	probably benign	Het
Hmcn2	C	A	2: 31,350,070	Q458K	probably benign	Het
Hr	G	A	14: 70,567,842	S1008N	possibly damaging	Het
Kif14	C	T	1: 136,476,352	L525F	probably benign	Het
Lama1	A	T	17: 67,745,922	I417F		Het
Limd1	A	T	9: 123,500,151	K469*	probably null	Het
Lipo2	T	C	19: 33,720,994	M328V	possibly damaging	Het
Lrrk1	T	C	7: 66,342,782	S81G	probably benign	Het
Ltn1	G	A	16: 87,418,497	R417W	probably damaging	Het
Mamdc2	T	C	19: 23,334,029	D487G	probably damaging	Het
Mmp3	A	C	9: 7,446,985	K55T	probably benign	Het
Mob1b	A	G	5: 88,753,234	I167V	probably benign	Het
Mocs3	A	G	2: 168,231,881	N416S	probably damaging	Het
Mtrr	A	G	13: 68,577,621	F123S	probably damaging	Het
Muc5b	A	G	7: 141,865,175	T3953A	possibly damaging	Het
Myh7	G	A	14: 54,973,319	Q1714*	probably null	Het
Nrf1	A	G	6: 30,098,450	K114E	possibly damaging	Het
Olfr275	A	G	4: 52,825,849	T151A	probably benign	Het
Olfr288	A	T	15: 98,186,958	S280T	probably benign	Het
Olfr822	A	G	10: 130,075,006	I199V	probably benign	Het
Prob1	T	C	18: 35,653,233	D656G	possibly damaging	Het
Rbm24	A	T	13: 46,428,968	Y121F	probably benign	Het
Rbm24	C	T	13: 46,429,291	Q229*	probably null	Het
Rd3l	C	T	12: 111,980,052	V97I	probably benign	Het
Rere	G	A	4: 150,617,339	R25H	probably damaging	Het
Rgs20	T	C	1: 4,912,415	M144V	probably benign	Het
Robo1	A	G	16: 72,978,581	I665V	probably benign	Het
Slc18b1	T	C	10: 23,822,943	L339S	probably damaging	Het
Slc25a17	G	A	15: 81,338,047	L75F	probably damaging	Het
Snx29	A	G	16: 11,571,716	N226D	probably benign	Het
Tmprss11b	A	G	5: 86,664,962		probably null	Het
Tpp2	T	C	1: 43,970,440	V478A	probably damaging	Het
Unc13b	A	G	4: 43,239,918	E746G	probably benign	Het
Urb2	A	G	8: 124,028,040	E162G	probably benign	Het
Vwf	C	T	6: 125,570,559	Q198*	probably null	Het
Zhx3	T	C	2: 160,781,699	M183V	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
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
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'- TGTGCAGGCTGACTTAGAGC -3'
(R):5'- ACACTGCTTCTTGGGATGGAG -3'

Sequencing Primer
(F):5'- CCTCTTCAGTTACAGGGAGGACTAC -3'
(R):5'- CTTGGGATGGAGTGGGGGAC -3'

Posted On

2020-06-30