Mutagenetix > Incidental Mutation

Incidental Mutation 'R7485:Dlgap2'

580080

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

045559-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7485 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14145865-14897680 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14879952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 767 (K767N)

Ref Sequence

ENSEMBL: ENSMUSP00000123078 (fasta)

Gene Model

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

AlphaFold

Q8BJ42

Predicted Effect

probably damaging
Transcript: ENSMUST00000043279
AA Change: K766N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: K766N

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: ENSMUST00000133298
AA Change: K766N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: K766N

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: K752N

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: K752N

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: K767N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: K767N

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (99/100)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat3	C	T	10: 80,442,234 (GRCm39)	A24V	probably benign	Het
Agbl1	A	T	7: 76,239,241 (GRCm39)	E832D	unknown	Het
Akap8l	G	A	17: 32,554,545 (GRCm39)	S347L	probably benign	Het
Ankmy1	G	T	1: 92,804,379 (GRCm39)	A868E	probably damaging	Het
Ankrd49	A	T	9: 14,693,837 (GRCm39)	L110*	probably null	Het
Aoc3	A	G	11: 101,228,229 (GRCm39)	T679A	probably damaging	Het
Ap1s3	A	G	1: 79,592,018 (GRCm39)	Y111H	probably damaging	Het
Arnt	T	A	3: 95,402,659 (GRCm39)	N777K	probably damaging	Het
Atp4b	A	T	8: 13,436,732 (GRCm39)	M260K	probably benign	Het
Bcl2l15	A	T	3: 103,740,729 (GRCm39)	D65V	probably damaging	Het
Bicdl1	G	T	5: 115,801,845 (GRCm39)	S340*	probably null	Het
Ccdc15	T	C	9: 37,226,574 (GRCm39)	R467G	probably benign	Het
Ccdc68	T	A	18: 70,102,084 (GRCm39)	M327K	possibly damaging	Het
Ccdc83	T	C	7: 89,873,138 (GRCm39)	T406A	probably benign	Het
Ccnf	A	T	17: 24,468,232 (GRCm39)	V55D	probably damaging	Het
Cdcp3	C	A	7: 130,830,562 (GRCm39)	P332Q	probably damaging	Het
Cldn12	A	G	5: 5,558,008 (GRCm39)	F140L	probably benign	Het
Copb1	A	C	7: 113,844,720 (GRCm39)	I213S	possibly damaging	Het
Cps1	G	A	1: 67,179,016 (GRCm39)	G76D	probably damaging	Het
Ctrc	A	G	4: 141,567,627 (GRCm39)	W159R	probably damaging	Het
Cul4a	C	T	8: 13,190,279 (GRCm39)	T572M	possibly damaging	Het
Cyp2c40	A	T	19: 39,796,050 (GRCm39)	Y109*	probably null	Het
Dcc	A	G	18: 71,553,317 (GRCm39)	Y780H	probably benign	Het
Dctn1	C	T	6: 83,166,887 (GRCm39)	A283V	possibly damaging	Het
Dio1	T	C	4: 107,154,874 (GRCm39)	D134G	probably benign	Het
Dlg5	A	T	14: 24,198,390 (GRCm39)	D1514E	probably benign	Het
Dlg5	A	T	14: 24,227,907 (GRCm39)	L338Q	probably damaging	Het
Dst	A	T	1: 34,313,270 (GRCm39)	I4346F	probably benign	Het
Dzip1l	T	C	9: 99,543,065 (GRCm39)	F507L	probably benign	Het
Erich2	A	T	2: 70,362,109 (GRCm39)	D300V	probably damaging	Het
Fam114a2	C	T	11: 57,404,515 (GRCm39)	G83D	probably damaging	Het
Fam131a	C	T	16: 20,520,444 (GRCm39)	A299V	probably benign	Het
Fbln2	A	G	6: 91,247,143 (GRCm39)		probably null	Het
Fbn2	T	C	18: 58,204,912 (GRCm39)	D1177G	possibly damaging	Het
Fbxl6	T	C	15: 76,422,113 (GRCm39)		probably null	Het
Frem3	A	T	8: 81,339,965 (GRCm39)	I753F	probably damaging	Het
Gfra1	A	G	19: 58,288,744 (GRCm39)	S234P	probably damaging	Het
Gtse1	T	A	15: 85,752,901 (GRCm39)	S339T	probably benign	Het
Hdgfl3	T	C	7: 81,550,106 (GRCm39)	N76S	probably benign	Het
Herc6	A	G	6: 57,558,089 (GRCm39)	E23G	probably benign	Het
Hid1	T	A	11: 115,245,545 (GRCm39)	H420L	probably damaging	Het
Igsf21	G	A	4: 139,755,049 (GRCm39)	T440I	probably benign	Het
Ikzf4	T	A	10: 128,468,451 (GRCm39)	H676L	unknown	Het
Il18r1	A	G	1: 40,520,140 (GRCm39)	E177G	probably benign	Het
Iqch	A	G	9: 63,415,599 (GRCm39)	Y558H	possibly damaging	Het
Kif11	A	T	19: 37,399,072 (GRCm39)	N752I	possibly damaging	Het
Kntc1	T	A	5: 123,925,019 (GRCm39)	C1111S	possibly damaging	Het
Krtap9-5	A	G	11: 99,839,800 (GRCm39)	K167R	unknown	Het
Lgalsl2	C	T	7: 5,362,440 (GRCm39)	R24C	probably benign	Het
Lipe	G	T	7: 25,080,036 (GRCm39)	T704K	probably benign	Het
Lrrc32	A	T	7: 98,147,414 (GRCm39)	I65F	possibly damaging	Het
Mogs	C	T	6: 83,093,188 (GRCm39)	H179Y	probably damaging	Het
Mtnr1b	A	T	9: 15,774,590 (GRCm39)	Y156*	probably null	Het
Mtus1	T	C	8: 41,537,590 (GRCm39)	H42R	probably benign	Het
Mx2	T	A	16: 97,346,918 (GRCm39)	D128E	probably benign	Het
Myof	A	T	19: 37,939,939 (GRCm39)	L829*	probably null	Het
Naip6	T	C	13: 100,420,359 (GRCm39)	K1304E	probably benign	Het
Neo1	A	C	9: 58,791,826 (GRCm39)	S1307R	probably benign	Het
Nipbl	A	T	15: 8,359,779 (GRCm39)	D1475E	probably benign	Het
Nlrp9b	T	A	7: 19,757,875 (GRCm39)	F371I	probably damaging	Het
Nrip1	A	T	16: 76,088,338 (GRCm39)	M1073K	probably damaging	Het
Obox6	T	C	7: 15,567,863 (GRCm39)	N195D	probably damaging	Het
Or13a18	T	A	7: 140,190,091 (GRCm39)	I4K	probably benign	Het
Or1j18	T	A	2: 36,624,650 (GRCm39)	F106I	probably benign	Het
Or5ac24	A	T	16: 59,165,687 (GRCm39)	C126S	probably damaging	Het
Or5b99	C	T	19: 12,976,922 (GRCm39)	H191Y	probably benign	Het
Or5p64	C	A	7: 107,855,045 (GRCm39)	C100F	probably damaging	Het
Pax7	T	C	4: 139,511,880 (GRCm39)	K232E	probably benign	Het
Phldb3	C	T	7: 24,310,689 (GRCm39)		probably benign	Het
Pkd1l1	C	A	11: 8,915,148 (GRCm39)	V131L		Het
Ppp2r5a	A	G	1: 191,128,532 (GRCm39)	S28P	probably benign	Het
Prl8a1	A	G	13: 27,758,068 (GRCm39)	S214P	probably damaging	Het
Prmt2	A	T	10: 76,056,838 (GRCm39)	C228*	probably null	Het
Prpf8	C	T	11: 75,399,738 (GRCm39)	R2266*	probably null	Het
Rabl6	A	G	2: 25,474,153 (GRCm39)	S648P	unknown	Het
Ralgapa1	T	C	12: 55,759,457 (GRCm39)	K1022R	probably damaging	Het
Ralgapb	T	A	2: 158,285,275 (GRCm39)	D591E	probably benign	Het
Rprd1a	A	G	18: 24,639,889 (GRCm39)		probably null	Het
Rsu1	T	C	2: 13,221,686 (GRCm39)	R165G	probably damaging	Het
Samd8	A	G	14: 21,842,491 (GRCm39)	E334G	probably benign	Het
Scn9a	T	A	2: 66,364,561 (GRCm39)	Q804L	probably damaging	Het
Sez6	A	G	11: 77,864,711 (GRCm39)	D557G	probably benign	Het
Sgsm1	A	T	5: 113,427,501 (GRCm39)		probably null	Het
Slc17a3	T	A	13: 24,039,832 (GRCm39)	M290K		Het
Snd1	T	A	6: 28,531,449 (GRCm39)	V330E	probably benign	Het
Tceanc2	T	C	4: 107,022,852 (GRCm39)	K45R	probably damaging	Het
Tg	A	T	15: 66,568,437 (GRCm39)	I1375F	probably benign	Het
Tmem116	T	A	5: 121,633,124 (GRCm39)	I357K		Het
Tmem39a	G	T	16: 38,408,658 (GRCm39)	R407L	possibly damaging	Het
Tmem74	A	T	15: 43,730,761 (GRCm39)	M94K	probably benign	Het
Tpp1	C	T	7: 105,398,751 (GRCm39)	C226Y	probably damaging	Het
Trbv21	T	C	6: 41,179,861 (GRCm39)	I59T	not run	Het
Trim11	A	G	11: 58,869,463 (GRCm39)	D133G	probably benign	Het
Uaca	G	A	9: 60,753,282 (GRCm39)	V76I	probably damaging	Het
Ugt2a3	A	G	5: 87,475,539 (GRCm39)		probably null	Het
Vmn2r104	G	T	17: 20,249,737 (GRCm39)	H845N	probably benign	Het
Wdr24	T	C	17: 26,045,101 (GRCm39)	Y279H	probably damaging	Het
Zbtb46	A	G	2: 181,065,512 (GRCm39)	S213P	probably benign	Het
Zdhhc13	C	A	7: 48,461,103 (GRCm39)	Y346*	probably null	Het
Zfp280b	A	T	10: 75,875,075 (GRCm39)	H318L	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
R7560:Dlgap2	UTSW	8	14,872,697 (GRCm39)	critical splice donor site	probably null
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'- TCGATTACAGCAAATGAGCAAG -3'
(R):5'- AAGGACTTTCACCTCCCAGG -3'

Sequencing Primer
(F):5'- GAAGAAAACAATCAGTTACCAGGTC -3'
(R):5'- CCCAGGGCTGTGAGCTATGATG -3'

Posted On

2019-10-07