Mutagenetix > Incidental Mutation

Incidental Mutation 'R7560:Dlgap2'

585036

Institutional Source

Beutler Lab

Gene Symbol

Dlgap2

Ensembl Gene

ENSMUSG00000047495

Gene Name

DLG associated protein 2

Synonyms

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

MMRRC Submission

045626-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7560 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14145865-14897680 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 14872697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123078 (fasta)

Gene Model

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

AlphaFold

Q8BJ42

Predicted Effect

probably null
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 null
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 null
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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (100/100)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	G	13: 91,932,510 (GRCm39)	D502G	probably benign	Het
Adrb1	T	C	19: 56,711,120 (GRCm39)	V106A	probably damaging	Het
Ahcyl2	G	T	6: 29,886,139 (GRCm39)	G352W	probably damaging	Het
Ahnak2	T	G	12: 112,745,851 (GRCm39)	D446A		Het
Arhgap42	T	C	9: 9,035,532 (GRCm39)	D270G	probably benign	Het
Atp2a1	A	G	7: 126,058,828 (GRCm39)	V129A	possibly damaging	Het
B9d2	G	A	7: 25,380,784 (GRCm39)		probably benign	Het
Bace1	A	T	9: 45,767,437 (GRCm39)	I207F	possibly damaging	Het
Blnk	T	A	19: 40,940,834 (GRCm39)	I190F	possibly damaging	Het
Bmp7	C	T	2: 172,781,757 (GRCm39)	E36K	possibly damaging	Het
Brsk2	A	G	7: 141,554,597 (GRCm39)	E654G	probably benign	Het
Cacna2d3	T	C	14: 28,780,378 (GRCm39)	H661R	probably benign	Het
Cdh4	T	C	2: 179,532,695 (GRCm39)	V719A	probably benign	Het
Cdkn2d	G	T	9: 21,200,540 (GRCm39)	P77H	probably damaging	Het
Chd3	A	G	11: 69,247,096 (GRCm39)	V1024A	probably damaging	Het
Chsy1	T	A	7: 65,820,992 (GRCm39)	M409K	possibly damaging	Het
Chsy1	T	C	7: 65,821,319 (GRCm39)	L518P	probably damaging	Het
Cic	G	A	7: 24,972,278 (GRCm39)	V670M	probably damaging	Het
Clock	A	T	5: 76,390,738 (GRCm39)		probably null	Het
Coro1a	C	A	7: 126,302,306 (GRCm39)	V14L	probably damaging	Het
Ctcfl	C	A	2: 172,960,199 (GRCm39)	C128F	probably damaging	Het
Cyb5b	A	G	8: 107,896,491 (GRCm39)	T71A	probably damaging	Het
Cyp2c40	C	G	19: 39,795,658 (GRCm39)	V174L	possibly damaging	Het
D630045J12Rik	T	A	6: 38,173,562 (GRCm39)	Q202L	possibly damaging	Het
Dgkz	T	C	2: 91,773,160 (GRCm39)		probably benign	Het
Dnah1	T	C	14: 31,026,940 (GRCm39)	I695V	probably benign	Het
Dst	T	A	1: 34,221,532 (GRCm39)	S2445R	possibly damaging	Het
Elob	T	C	17: 24,043,950 (GRCm39)	D83G	probably benign	Het
Elp4	T	A	2: 105,624,933 (GRCm39)	D320V	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Etfdh	T	C	3: 79,530,886 (GRCm39)	Y45C	probably damaging	Het
Exph5	A	G	9: 53,287,073 (GRCm39)	I1385V	probably benign	Het
Fat3	A	T	9: 15,908,138 (GRCm39)	D2621E	probably damaging	Het
Fbxl6	G	T	15: 76,422,669 (GRCm39)	A83D	probably benign	Het
Fmo2	A	G	1: 162,716,318 (GRCm39)	Y90H	probably damaging	Het
Fzd4	T	A	7: 89,056,761 (GRCm39)	Y269*	probably null	Het
Grik5	T	A	7: 24,757,951 (GRCm39)	I377F	probably damaging	Het
Havcr2	C	A	11: 46,349,889 (GRCm39)	P137Q	probably damaging	Het
Hectd4	A	G	5: 121,392,405 (GRCm39)	N223S	possibly damaging	Het
Hmcn2	A	G	2: 31,347,185 (GRCm39)	S4792G	probably benign	Het
Hps3	T	G	3: 20,084,616 (GRCm39)	I191L	probably benign	Het
Ica1l	T	A	1: 60,049,369 (GRCm39)	K195*	probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Ift140	A	G	17: 25,311,315 (GRCm39)	D1170G	probably benign	Het
Igflr1	T	C	7: 30,266,776 (GRCm39)	F208S	possibly damaging	Het
Kcnma1	T	C	14: 23,580,310 (GRCm39)	T313A	probably benign	Het
Krt6a	T	A	15: 101,598,994 (GRCm39)	I524F	unknown	Het
Lce1d	G	T	3: 92,593,148 (GRCm39)	H88Q	unknown	Het
Lrmda	A	G	14: 22,878,770 (GRCm39)	E177G	probably benign	Het
Lrrn3	T	A	12: 41,502,712 (GRCm39)	N535I	possibly damaging	Het
Map2k4	T	A	11: 65,666,583 (GRCm39)	I40L	unknown	Het
Map7d1	A	G	4: 126,130,429 (GRCm39)	L459P	probably damaging	Het
Mipol1	A	T	12: 57,352,859 (GRCm39)	N66I	possibly damaging	Het
Mycn	A	C	12: 12,990,292 (GRCm39)	F35V	probably benign	Het
Mzt2	A	C	16: 15,680,669 (GRCm39)	M40R	possibly damaging	Het
N4bp2	T	G	5: 65,948,458 (GRCm39)	L363V	probably damaging	Het
Nfat5	T	A	8: 108,097,221 (GRCm39)	M1532K	probably benign	Het
Notch1	G	A	2: 26,350,177 (GRCm39)	T2321M	probably benign	Het
Nr1h4	T	C	10: 89,334,123 (GRCm39)	D89G	probably benign	Het
Nsun4	G	A	4: 115,908,691 (GRCm39)	T623I	possibly damaging	Het
Nup155	T	C	15: 8,184,531 (GRCm39)	S1309P	probably benign	Het
Or4e1	T	C	14: 52,700,851 (GRCm39)	N205S	probably damaging	Het
Or51f5	T	C	7: 102,430,889 (GRCm39)	S69P	probably damaging	Het
Or8h10	T	C	2: 86,809,122 (GRCm39)	Y6C	probably benign	Het
Pcsk5	A	G	19: 17,814,336 (GRCm39)	F61L	probably benign	Het
Phrf1	A	T	7: 140,811,138 (GRCm39)		probably null	Het
Pkd1	G	A	17: 24,792,605 (GRCm39)	E1431K	probably benign	Het
Pkd2	T	A	5: 104,628,219 (GRCm39)	I431N	probably damaging	Het
Plcb2	A	G	2: 118,546,124 (GRCm39)	L557P	probably damaging	Het
Poteg	A	G	8: 27,984,988 (GRCm39)	N449S	probably benign	Het
Ppargc1b	C	A	18: 61,445,281 (GRCm39)	G192W	probably damaging	Het
Rab13	T	C	3: 90,132,206 (GRCm39)	S178P	probably benign	Het
Ralgds	A	G	2: 28,437,607 (GRCm39)	D571G	probably damaging	Het
Ror2	A	G	13: 53,264,849 (GRCm39)	S748P	probably benign	Het
Sart1	A	T	19: 5,434,905 (GRCm39)	L167Q	probably damaging	Het
Septin12	A	G	16: 4,810,055 (GRCm39)	V160A	possibly damaging	Het
Sgo1	T	C	17: 53,986,295 (GRCm39)	S299G	probably benign	Het
Shoc1	T	C	4: 59,076,140 (GRCm39)	N601S	possibly damaging	Het
Slc35b4	T	A	6: 34,140,296 (GRCm39)	D152V	probably benign	Het
Spata31h1	T	C	10: 82,120,449 (GRCm39)	Y4187C	probably damaging	Het
Specc1	T	A	11: 62,019,235 (GRCm39)		probably null	Het
Synj1	G	A	16: 90,737,371 (GRCm39)	T1308I	probably benign	Het
Thap12	T	G	7: 98,359,438 (GRCm39)	L106V	probably damaging	Het
Togaram1	T	C	12: 65,057,916 (GRCm39)	M1501T	possibly damaging	Het
Top2a	G	T	11: 98,891,663 (GRCm39)	N1153K	probably benign	Het
Trpm5	A	G	7: 142,634,723 (GRCm39)	L658P	probably damaging	Het
Ttc21b	G	A	2: 66,047,548 (GRCm39)	A849V	possibly damaging	Het
Vcf1	C	T	11: 113,554,215 (GRCm39)	G160D	probably damaging	Het
Vmn1r80	A	T	7: 11,927,750 (GRCm39)	I287F	probably damaging	Het
Vmn1r87	T	C	7: 12,865,745 (GRCm39)	S181G	probably damaging	Het
Vmn2r71	A	T	7: 85,273,115 (GRCm39)	H643L	probably benign	Het
Washc5	G	A	15: 59,238,041 (GRCm39)	R228C	probably damaging	Het
Wdr72	T	C	9: 74,117,408 (GRCm39)	S719P	probably damaging	Het
Xrcc3	G	T	12: 111,774,336 (GRCm39)	D164E	probably benign	Het
Zc2hc1b	G	A	10: 13,044,529 (GRCm39)	R45C	probably damaging	Het
Zfp335	A	G	2: 164,737,912 (GRCm39)	Y900H	probably damaging	Het
Zfp512b	G	A	2: 181,228,875 (GRCm39)	R697C	probably damaging	Het
Zfp60	T	C	7: 27,448,561 (GRCm39)	Y410H	probably damaging	Het
Zfp60	T	A	7: 27,448,696 (GRCm39)	C455S	probably damaging	Het
Zfp605	C	T	5: 110,275,157 (GRCm39)	Q92*	probably null	Het
Zfp64	C	T	2: 168,767,585 (GRCm39)	D676N	probably damaging	Het

Other mutations in Dlgap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01476:Dlgap2	APN	8	14,828,301 (GRCm39)	nonsense	probably null
IGL01788:Dlgap2	APN	8	14,893,631 (GRCm39)	missense	probably benign	0.19
IGL02054:Dlgap2	APN	8	14,893,552 (GRCm39)	missense	probably damaging	0.98
IGL02969:Dlgap2	APN	8	14,881,579 (GRCm39)	missense	possibly damaging	0.95
IGL03183:Dlgap2	APN	8	14,777,525 (GRCm39)	missense	possibly damaging	0.62
IGL03303:Dlgap2	APN	8	14,777,812 (GRCm39)	missense	probably damaging	0.99
G1Funyon:Dlgap2	UTSW	8	14,873,577 (GRCm39)	missense	probably benign	0.27
PIT4403001:Dlgap2	UTSW	8	14,881,528 (GRCm39)	missense	probably damaging	1.00
R0026:Dlgap2	UTSW	8	14,777,363 (GRCm39)	nonsense	probably null
R0242:Dlgap2	UTSW	8	14,777,562 (GRCm39)	missense	probably benign	0.34
R0242:Dlgap2	UTSW	8	14,777,562 (GRCm39)	missense	probably benign	0.34
R0647:Dlgap2	UTSW	8	14,777,591 (GRCm39)	missense	possibly damaging	0.95
R1221:Dlgap2	UTSW	8	14,776,952 (GRCm39)	missense	probably benign	0.08
R1374:Dlgap2	UTSW	8	14,881,228 (GRCm39)	splice site	probably benign
R1440:Dlgap2	UTSW	8	14,777,060 (GRCm39)	missense	probably benign
R1544:Dlgap2	UTSW	8	14,879,861 (GRCm39)	splice site	probably null
R1550:Dlgap2	UTSW	8	14,872,499 (GRCm39)	missense	probably damaging	0.98
R1804:Dlgap2	UTSW	8	14,777,809 (GRCm39)	missense	possibly damaging	0.71
R1870:Dlgap2	UTSW	8	14,823,347 (GRCm39)	missense	probably damaging	1.00
R1921:Dlgap2	UTSW	8	14,893,624 (GRCm39)	missense	probably benign	0.10
R2119:Dlgap2	UTSW	8	14,828,206 (GRCm39)	missense	possibly damaging	0.69
R2193:Dlgap2	UTSW	8	14,793,431 (GRCm39)	missense	possibly damaging	0.51
R4381:Dlgap2	UTSW	8	14,896,502 (GRCm39)	missense	probably benign
R4422:Dlgap2	UTSW	8	14,793,463 (GRCm39)	critical splice donor site	probably null
R4521:Dlgap2	UTSW	8	14,777,871 (GRCm39)	missense	probably damaging	1.00
R4581:Dlgap2	UTSW	8	14,896,679 (GRCm39)	missense	probably damaging	1.00
R4585:Dlgap2	UTSW	8	14,777,999 (GRCm39)	critical splice donor site	probably null
R4760:Dlgap2	UTSW	8	14,823,380 (GRCm39)	missense	probably damaging	1.00
R5077:Dlgap2	UTSW	8	14,872,691 (GRCm39)	missense	probably benign	0.35
R5373:Dlgap2	UTSW	8	14,873,614 (GRCm39)	missense	probably benign	0.19
R5374:Dlgap2	UTSW	8	14,873,614 (GRCm39)	missense	probably benign	0.19
R5552:Dlgap2	UTSW	8	14,881,342 (GRCm39)	nonsense	probably null
R5964:Dlgap2	UTSW	8	14,777,128 (GRCm39)	nonsense	probably null
R6125:Dlgap2	UTSW	8	14,777,193 (GRCm39)	missense	possibly damaging	0.78
R6147:Dlgap2	UTSW	8	14,777,294 (GRCm39)	missense	probably benign	0.05
R6163:Dlgap2	UTSW	8	14,896,641 (GRCm39)	missense	probably damaging	1.00
R6269:Dlgap2	UTSW	8	14,872,369 (GRCm39)	missense	probably benign	0.01
R6629:Dlgap2	UTSW	8	14,881,465 (GRCm39)	missense	probably benign	0.00
R6765:Dlgap2	UTSW	8	14,793,284 (GRCm39)	missense	probably benign	0.00
R6809:Dlgap2	UTSW	8	14,229,619 (GRCm39)	intron	probably benign
R6913:Dlgap2	UTSW	8	14,828,374 (GRCm39)	missense	probably benign	0.10
R7219:Dlgap2	UTSW	8	14,793,296 (GRCm39)	missense	probably benign	0.00
R7485:Dlgap2	UTSW	8	14,879,952 (GRCm39)	missense	probably damaging	0.97
R7826:Dlgap2	UTSW	8	14,793,410 (GRCm39)	missense	probably benign	0.38
R7976:Dlgap2	UTSW	8	14,793,410 (GRCm39)	missense	probably benign	0.38
R8101:Dlgap2	UTSW	8	14,881,600 (GRCm39)	missense	probably benign	0.04
R8301:Dlgap2	UTSW	8	14,873,577 (GRCm39)	missense	probably benign	0.27
R8333:Dlgap2	UTSW	8	14,828,295 (GRCm39)	missense	probably benign	0.03
R8367:Dlgap2	UTSW	8	14,893,544 (GRCm39)	missense	probably benign	0.00
R8492:Dlgap2	UTSW	8	14,828,271 (GRCm39)	missense	possibly damaging	0.49
R8685:Dlgap2	UTSW	8	14,881,628 (GRCm39)	missense	possibly damaging	0.71
R8690:Dlgap2	UTSW	8	14,793,430 (GRCm39)	missense	probably benign	0.00
R8887:Dlgap2	UTSW	8	14,229,682 (GRCm39)	critical splice donor site	probably null
R9328:Dlgap2	UTSW	8	14,777,441 (GRCm39)	missense	probably damaging	1.00
R9338:Dlgap2	UTSW	8	14,229,683 (GRCm39)	critical splice donor site	probably null
R9465:Dlgap2	UTSW	8	14,828,226 (GRCm39)	missense	probably damaging	1.00
R9680:Dlgap2	UTSW	8	14,896,653 (GRCm39)	missense	probably damaging	0.98
X0060:Dlgap2	UTSW	8	14,889,787 (GRCm39)	missense	probably damaging	1.00
Z1088:Dlgap2	UTSW	8	14,872,472 (GRCm39)	missense	probably benign	0.10
Z1177:Dlgap2	UTSW	8	14,777,659 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCATGGACAGTCTAGACAGC -3'
(R):5'- TCCTAGCTGTCAGTCCTGAG -3'

Sequencing Primer
(F):5'- CAGCAACAAGGCCATGAATTTG -3'
(R):5'- GGGAAGTACATGAGTCTCACCTC -3'

Posted On

2019-10-17