Mutagenetix > Incidental Mutation

Incidental Mutation 'R1921:Dlgap2'

213059

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

039939-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1921 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14145865-14897680 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14893624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 980 (K980E)

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: K979E

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: K979E

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: K979E

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: K979E

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: K965E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: K965E

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: K980E

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: K980E

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: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.3%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Abhd2	T	C	7: 78,998,104 (GRCm39)	I212T	possibly damaging	Het
Adam7	A	C	14: 68,750,074 (GRCm39)	S449A	possibly damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aox3	T	C	1: 58,219,810 (GRCm39)	Y1137H	probably damaging	Het
Atp11b	T	C	3: 35,888,474 (GRCm39)	Y715H	probably damaging	Het
Atrn	A	G	2: 130,836,971 (GRCm39)	Y1145C	probably damaging	Het
Btbd7	A	G	12: 102,760,055 (GRCm39)	I631T	probably benign	Het
Cadps	T	C	14: 12,465,859 (GRCm38)	K1017R	possibly damaging	Het
Cfap45	A	G	1: 172,372,679 (GRCm39)	E458G	probably damaging	Het
Cptp	C	T	4: 155,950,995 (GRCm39)	R157H	probably damaging	Het
Dcbld1	A	C	10: 52,195,747 (GRCm39)	E318D	possibly damaging	Het
Ddr2	G	T	1: 169,831,814 (GRCm39)	P197Q	probably damaging	Het
Dlg5	T	C	14: 24,226,639 (GRCm39)	Y421C	probably damaging	Het
Drc7	T	C	8: 95,782,644 (GRCm39)	V3A	unknown	Het
Dst	T	C	1: 34,200,110 (GRCm39)	V96A	probably damaging	Het
Ect2l	T	C	10: 18,018,752 (GRCm39)	D548G	possibly damaging	Het
Efcab10	A	T	12: 33,448,434 (GRCm39)	Y89F	probably benign	Het
Eif1ad	CGAGGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGGAGG	19: 5,420,086 (GRCm39)		probably benign	Het
Entpd6	A	G	2: 150,600,732 (GRCm39)	T147A	probably damaging	Het
Fbxl5	T	A	5: 43,922,832 (GRCm39)	E189D	probably benign	Het
Fer1l6	T	A	15: 58,497,080 (GRCm39)	S1217T	probably damaging	Het
Frem2	A	T	3: 53,560,916 (GRCm39)	V1197D	possibly damaging	Het
Fsip2	T	A	2: 82,811,127 (GRCm39)	L2482*	probably null	Het
Fsip2	A	T	2: 82,817,164 (GRCm39)	D4299V	probably benign	Het
Gipc3	T	A	10: 81,174,049 (GRCm39)	I242F	probably damaging	Het
Hoxb1	T	A	11: 96,256,938 (GRCm39)	Y96N	probably damaging	Het
Ibsp	A	G	5: 104,458,078 (GRCm39)	E205G	probably damaging	Het
Ibtk	A	G	9: 85,585,135 (GRCm39)	S1170P	probably benign	Het
Igfn1	A	G	1: 135,893,801 (GRCm39)		probably null	Het
Iqsec1	A	G	6: 90,639,877 (GRCm39)	S954P	probably benign	Het
Kalrn	A	T	16: 34,212,463 (GRCm39)	D28E	probably benign	Het
Lrmda	T	C	14: 22,627,938 (GRCm39)	F52L	probably damaging	Het
Lrp2	T	C	2: 69,353,631 (GRCm39)	D543G	probably damaging	Het
Lrrtm3	T	C	10: 63,924,157 (GRCm39)	T337A	probably benign	Het
Marf1	C	T	16: 13,946,465 (GRCm39)	D1219N	possibly damaging	Het
Mkln1	A	G	6: 31,405,113 (GRCm39)	K118R	probably benign	Het
Nedd4l	T	C	18: 65,300,646 (GRCm39)		probably null	Het
Neu2	A	G	1: 87,525,023 (GRCm39)	E336G	probably benign	Het
Nfasc	A	G	1: 132,538,543 (GRCm39)	F448S	probably damaging	Het
Nlrx1	C	A	9: 44,165,431 (GRCm39)	E822*	probably null	Het
Nr5a1	T	C	2: 38,584,108 (GRCm39)	Y437C	probably damaging	Het
Or4c119	A	G	2: 88,986,925 (GRCm39)	V198A	probably benign	Het
Or7a37	T	A	10: 78,805,975 (GRCm39)	L164*	probably null	Het
Or8b38	T	C	9: 37,972,981 (GRCm39)	Y122H	probably damaging	Het
Phtf1	C	T	3: 103,876,438 (GRCm39)	Q13*	probably null	Het
Pnldc1	A	G	17: 13,107,815 (GRCm39)	L525P	possibly damaging	Het
Ppl	T	A	16: 4,923,988 (GRCm39)	D162V	possibly damaging	Het
Prkdc	T	A	16: 15,532,079 (GRCm39)	S1448T	possibly damaging	Het
Ptgdr	A	G	14: 45,090,738 (GRCm39)	I340T	probably benign	Het
Recql	T	C	6: 142,311,315 (GRCm39)	I458M	probably benign	Het
Rrbp1	A	T	2: 143,830,211 (GRCm39)	V652E	probably benign	Het
Rtp1	T	A	16: 23,250,160 (GRCm39)	I175N	probably damaging	Het
Ryr1	A	G	7: 28,754,369 (GRCm39)	M3523T	probably damaging	Het
S100a16	T	C	3: 90,449,703 (GRCm39)	L62P	probably damaging	Het
Samd11	T	C	4: 156,333,166 (GRCm39)	E364G	probably damaging	Het
Satb1	C	A	17: 52,049,143 (GRCm39)	G603*	probably null	Het
Shroom3	T	A	5: 93,110,224 (GRCm39)		probably null	Het
Slc25a15	A	G	8: 22,885,777 (GRCm39)	S3P	probably benign	Het
Socs2	A	T	10: 95,248,900 (GRCm39)	L71*	probably null	Het
Sptbn1	T	C	11: 30,054,469 (GRCm39)	E2208G	probably damaging	Het
St14	A	G	9: 31,001,166 (GRCm39)	V855A	possibly damaging	Het
Susd1	T	A	4: 59,412,191 (GRCm39)	T121S	probably benign	Het
Svs3b	A	T	2: 164,097,848 (GRCm39)	S158T	probably benign	Het
Synpo	C	T	18: 60,736,661 (GRCm39)	M428I	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Taar4	A	G	10: 23,837,239 (GRCm39)	D283G	probably damaging	Het
Tango6	T	A	8: 107,415,426 (GRCm39)	D82E	probably benign	Het
Tcof1	T	C	18: 60,971,927 (GRCm39)	T127A	possibly damaging	Het
Tle3	G	A	9: 61,318,622 (GRCm39)		probably null	Het
Tmem45a	A	G	16: 56,642,665 (GRCm39)	F169L	probably benign	Het
Trp53rkb	T	A	2: 166,637,743 (GRCm39)	V233E	probably damaging	Het
Ttc7b	C	T	12: 100,381,389 (GRCm39)		probably null	Het
Tubgcp3	A	T	8: 12,671,932 (GRCm39)	L770*	probably null	Het
Tut1	G	A	19: 8,943,466 (GRCm39)	G851D	probably benign	Het
Ubr1	G	A	2: 120,761,449 (GRCm39)	T576I	probably benign	Het
Vmn1r125	T	A	7: 21,006,530 (GRCm39)	Y143N	probably damaging	Het
Vmn2r120	T	A	17: 57,831,839 (GRCm39)	I317F	probably benign	Het
Vmn2r95	T	A	17: 18,644,575 (GRCm39)	N70K	probably benign	Het
Vps35l	A	G	7: 118,432,971 (GRCm39)	N568S	probably damaging	Het
Wdr59	A	T	8: 112,213,582 (GRCm39)	L311*	probably null	Het
Wnt2	A	G	6: 18,030,252 (GRCm39)	L12P	unknown	Het
Xrn1	T	C	9: 95,881,550 (GRCm39)	I700T	probably benign	Het
Ypel1	A	G	16: 16,900,443 (GRCm39)	H98R	probably benign	Het
Zfp219	T	C	14: 52,245,691 (GRCm39)	T434A	probably benign	Het
Zik1	A	C	7: 10,223,943 (GRCm39)	C385G	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
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
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'- TCAAACGTGTGGGGCTTCTC -3'
(R):5'- TGTATGTGCTTGCAATACCCC -3'

Sequencing Primer
(F):5'- CTTCTCCTTGAGTGACTTAAAGGAG -3'
(R):5'- ATGTGCTTGCAATACCCCTCCTC -3'

Posted On

2014-07-14