Mutagenetix > Incidental Mutation

Incidental Mutation 'R6125:Dlgap2'

487341

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

044272-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6125 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14095865-14847680 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14727193 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 146 (H146L)

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: H145L

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000039647
Gene: ENSMUSG00000047495
AA Change: H145L

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: H145L

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000119613
Gene: ENSMUSG00000047495
AA Change: H145L

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: ENSMUST00000141214

Predicted Effect

probably benign
Transcript: ENSMUST00000150247
AA Change: H145L

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000123104
Gene: ENSMUSG00000047495
AA Change: H145L

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

possibly damaging
Transcript: ENSMUST00000152652
AA Change: H146L

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123078
Gene: ENSMUSG00000047495
AA Change: H146L

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

0.1041

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.5%

Validation Efficiency

97% (65/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef11	T	C	3: 87,729,602	F1023S	probably damaging	Het
Atp1a1	G	A	3: 101,590,707	R255C	probably damaging	Het
Bbs12	A	G	3: 37,320,551	I383V	probably benign	Het
BC067074	A	G	13: 113,317,683	T88A	probably benign	Het
Cacna1h	G	A	17: 25,385,694	P1215L	probably benign	Het
Calm5	A	T	13: 3,854,491	K62*	probably null	Het
Chd8	T	A	14: 52,207,034	H398L	probably benign	Het
Dopey1	G	A	9: 86,521,133	R1462H	probably damaging	Het
Dupd1	C	A	14: 21,686,690	V115L	probably benign	Het
Dync2h1	T	C	9: 7,168,706	N369S	probably damaging	Het
Fam84b	T	C	15: 60,823,297	N200S	probably damaging	Het
Fer1l4	A	C	2: 156,046,987	V422G	probably damaging	Het
Fstl4	T	C	11: 53,186,303	M629T	probably benign	Het
Galnt18	A	G	7: 111,485,193	Y507H	probably damaging	Het
Gar1	C	A	3: 129,830,750		probably benign	Het
Gm19402	T	C	10: 77,690,673	T29A	probably damaging	Het
Gm826	A	G	2: 160,327,114	F92L	unknown	Het
H1f0	T	A	15: 79,028,870	I50N	probably damaging	Het
H2-DMb1	A	G	17: 34,157,465	Y186C	probably damaging	Het
Hgf	A	G	5: 16,598,161	N357S	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hsf2	T	C	10: 57,512,005	V415A	probably benign	Het
Ins2	C	A	7: 142,679,693		probably null	Het
Kel	A	T	6: 41,690,786	F89L	probably damaging	Het
Lrrc37a	T	C	11: 103,501,560	D1013G	probably benign	Het
Ltbp4	C	A	7: 27,327,755	G397C	probably damaging	Het
Madd	A	G	2: 91,152,452		probably null	Het
Map4k4	A	G	1: 40,003,965	D660G	possibly damaging	Het
Mdm4	G	A	1: 132,994,510	T298I	possibly damaging	Het
Mlip	G	A	9: 77,230,482	S381L	probably damaging	Het
Mpdz	A	T	4: 81,297,527	C1487S	probably benign	Het
Mtus1	A	G	8: 41,084,539	S47P	probably damaging	Het
Nek1	T	C	8: 61,028,701	S217P	probably damaging	Het
Olfr1129	T	C	2: 87,575,246	I54T	probably benign	Het
Olfr1487	C	T	19: 13,619,885	A241V	probably benign	Het
Pcdhb10	T	C	18: 37,413,626	V585A	possibly damaging	Het
Perm1	A	G	4: 156,217,719	E240G	probably benign	Het
Pkdrej	T	C	15: 85,816,384	T1784A	probably damaging	Het
Pnpla8	C	T	12: 44,307,989	T644M	possibly damaging	Het
Rgs2	T	C	1: 144,004,025	K32E	probably damaging	Het
Scyl3	A	T	1: 163,950,576	M428L	probably benign	Het
Slc30a8	A	G	15: 52,335,134	D325G	probably benign	Het
Slc5a9	G	T	4: 111,883,805	T548K	probably damaging	Het
Slc9b2	G	A	3: 135,330,696		probably null	Het
Slco3a1	C	T	7: 74,318,506	D489N	probably benign	Het
Slit3	T	C	11: 35,570,733		probably null	Het
Stk39	C	A	2: 68,392,124	G199C	probably damaging	Het
Tbx1	A	G	16: 18,583,466	F263L	probably damaging	Het
Tcf21	G	T	10: 22,819,766	N46K	probably benign	Het
Tdrd9	T	A	12: 112,068,198	M1357K	possibly damaging	Het
Tll1	A	G	8: 64,051,487	L625P	probably damaging	Het
Tmem131	G	A	1: 36,808,306	S1237L	possibly damaging	Het
Trdv5	T	C	14: 54,148,841	K56E	possibly damaging	Het
Triml2	G	A	8: 43,187,622	V172I	probably benign	Het
Trmt44	C	A	5: 35,565,498	D409Y	probably damaging	Het
Ube2o	C	T	11: 116,541,378	A921T	probably damaging	Het
Ube2o	T	C	11: 116,544,750	D404G	possibly damaging	Het
Ube4b	T	C	4: 149,398,746	T22A	probably benign	Het
Ugp2	A	T	11: 21,329,815	F327L	probably damaging	Het
Virma	T	C	4: 11,521,172	S910P	probably damaging	Het
Vmn2r9	A	G	5: 108,842,970	Y842H	probably benign	Het
Zfhx4	A	G	3: 5,398,811	D1368G	possibly damaging	Het
Zfp980	T	A	4: 145,702,638	*646R	probably null	Het
Zranb3	T	A	1: 127,959,745	N982Y	probably benign	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
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
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'- AACGCAGCACTTCAATGAAGAG -3'
(R):5'- GGGAGCTGTTTCTCAAACTGG -3'

Sequencing Primer
(F):5'- CAGCACTTCAATGAAGAGAGGTAC -3'
(R):5'- CTCAAACTGGTCTAAGAGGTTGGC -3'

Posted On

2017-10-10