Mutagenetix > Incidental Mutation

Incidental Mutation 'R3738:Dlgap3'

270222

Institutional Source

Beutler Lab

Gene Symbol

Dlgap3

Ensembl Gene

ENSMUSG00000042388

Gene Name

DLG associated protein 3

Synonyms

PSD-95/SAP90-binding protein 3, SAP90/PSD 95 associated protein 3, Sapap3, DAP3, Prpl8

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R3738 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127169204-127237022 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127195606 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 332 (T332A)

Ref Sequence

ENSEMBL: ENSMUSP00000101700 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046659] [ENSMUST00000106092] [ENSMUST00000106094]

AlphaFold

Q6PFD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000046659
AA Change: T332A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039724
Gene: ENSMUSG00000042388
AA Change: T332A

Domain	Start	End	E-Value	Type
low complexity region	53	88	N/A	INTRINSIC
low complexity region	145	159	N/A	INTRINSIC
low complexity region	200	243	N/A	INTRINSIC
low complexity region	258	284	N/A	INTRINSIC
low complexity region	338	354	N/A	INTRINSIC
internal_repeat_1	387	411	6.49e-5	PROSPERO
low complexity region	419	429	N/A	INTRINSIC
internal_repeat_1	493	517	6.49e-5	PROSPERO
low complexity region	539	550	N/A	INTRINSIC
low complexity region	597	615	N/A	INTRINSIC
Pfam:GKAP	619	977	1.3e-137	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106092
AA Change: T332A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101698
Gene: ENSMUSG00000042388
AA Change: T332A

Domain	Start	End	E-Value	Type
low complexity region	53	88	N/A	INTRINSIC
low complexity region	145	159	N/A	INTRINSIC
low complexity region	200	243	N/A	INTRINSIC
low complexity region	258	284	N/A	INTRINSIC
low complexity region	338	354	N/A	INTRINSIC
internal_repeat_1	387	411	5.59e-5	PROSPERO
low complexity region	419	429	N/A	INTRINSIC
internal_repeat_1	493	517	5.59e-5	PROSPERO
low complexity region	539	550	N/A	INTRINSIC
low complexity region	597	615	N/A	INTRINSIC
Pfam:GKAP	619	966	1.8e-127	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106094
AA Change: T332A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101700
Gene: ENSMUSG00000042388
AA Change: T332A

Domain	Start	End	E-Value	Type
low complexity region	53	88	N/A	INTRINSIC
low complexity region	145	159	N/A	INTRINSIC
low complexity region	200	243	N/A	INTRINSIC
low complexity region	258	284	N/A	INTRINSIC
low complexity region	338	354	N/A	INTRINSIC
internal_repeat_1	387	411	6.49e-5	PROSPERO
low complexity region	419	429	N/A	INTRINSIC
internal_repeat_1	493	517	6.49e-5	PROSPERO
low complexity region	539	550	N/A	INTRINSIC
low complexity region	597	615	N/A	INTRINSIC
Pfam:GKAP	626	977	1.3e-149	PFAM

Meta Mutation Damage Score

0.0948

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

98% (47/48)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit skin lesions associated with excessive grooming, increased anxiety-related behaviors, altered synaptic transmission and abnormal sleep patterns. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	A	T	11: 49,019,281	L775*	probably null	Het
Abcb8	A	G	5: 24,400,621	S168G	probably benign	Het
Ankrd11	A	G	8: 122,896,715		probably benign	Het
Api5	C	T	2: 94,425,613	R243Q	possibly damaging	Het
Atp8b1	A	G	18: 64,533,729		probably benign	Het
Camk2d	A	G	3: 126,771,839	D136G	probably damaging	Het
Capn3	G	A	2: 120,485,287	D227N	possibly damaging	Het
Cwf19l2	A	T	9: 3,456,803	H712L	probably benign	Het
Eml6	C	A	11: 29,803,137	V925L	probably benign	Het
Fbll1	G	A	11: 35,797,678	H253Y	possibly damaging	Het
Fbxw18	T	A	9: 109,688,913	Y335F	possibly damaging	Het
Gbp10	T	A	5: 105,224,458	E145D	possibly damaging	Het
Gm8251	A	G	1: 44,058,866	V1024A	probably benign	Het
Ifi203	T	A	1: 173,929,474		probably benign	Het
Insig1	T	A	5: 28,071,703	I89N	probably damaging	Het
Itpkc	T	A	7: 27,227,604	D295V	possibly damaging	Het
Jak1	T	C	4: 101,191,468		probably benign	Het
Kctd9	G	A	14: 67,734,288	D157N	possibly damaging	Het
Kmt2c	A	C	5: 25,405,383	F242V	probably benign	Het
Lcorl	A	T	5: 45,734,041	N323K	possibly damaging	Het
Lin54	T	C	5: 100,459,806		probably benign	Het
Ltbp2	A	T	12: 84,804,474	C836S	probably damaging	Het
Mfsd2b	A	G	12: 4,870,578	S80P	probably damaging	Het
Myh9	G	A	15: 77,766,812	R1612C	probably damaging	Het
Nr1d2	T	A	14: 18,211,804	N433I	possibly damaging	Het
Olfr1217	T	C	2: 89,023,610	Y131C	probably damaging	Het
Olfr1385	A	G	11: 49,495,460	D309G	possibly damaging	Het
Olfr724	T	C	14: 49,960,556	N172S	possibly damaging	Het
Pld4	T	C	12: 112,768,035	I410T	probably benign	Het
Pnmal2	C	T	7: 16,946,596	H502Y	probably benign	Het
Pramef8	T	C	4: 143,416,642		probably benign	Het
Rbbp8nl	G	T	2: 180,281,248	T184K	probably benign	Het
Saa4	T	A	7: 46,729,629	N96Y	possibly damaging	Het
Serpinb6d	T	A	13: 33,667,680	V140E	probably damaging	Het
Ska3	A	T	14: 57,811,596	M306K	probably benign	Het
Slfn4	T	C	11: 83,185,311	M1T	probably null	Het
Sorcs1	T	C	19: 50,151,221	I1168V	probably benign	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
St18	G	A	1: 6,855,473		probably null	Het
Trim9	T	C	12: 70,251,195	T579A	probably damaging	Het
Trpc2	G	A	7: 102,084,504	S220N	probably damaging	Het
Ube2j1	A	T	4: 33,036,723	M16L	probably benign	Het
Usp42	C	T	5: 143,715,439	S943N	probably benign	Het
Utp20	C	T	10: 88,762,806	V103I	probably benign	Het
Vmn2r62	G	A	7: 42,787,887	P391L	probably benign	Het
Zfa-ps	T	A	10: 52,544,540		noncoding transcript	Het
Zfp423	A	G	8: 87,781,344	C666R	probably damaging	Het

Other mutations in Dlgap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01667:Dlgap3	APN	4	127233897	missense	probably benign	0.01
IGL03122:Dlgap3	APN	4	127195225	missense	possibly damaging	0.86
IGL03259:Dlgap3	APN	4	127200284	missense	probably benign	0.05
Compulsive	UTSW	4	127195709	nonsense	probably null
R0363:Dlgap3	UTSW	4	127235521	missense	probably damaging	1.00
R1222:Dlgap3	UTSW	4	127194613	start codon destroyed	probably null	0.01
R1386:Dlgap3	UTSW	4	127194926	missense	possibly damaging	0.81
R1603:Dlgap3	UTSW	4	127195228	missense	probably damaging	1.00
R2073:Dlgap3	UTSW	4	127195366	missense	probably damaging	0.99
R2119:Dlgap3	UTSW	4	127236189	missense	probably benign
R2696:Dlgap3	UTSW	4	127194623	missense	probably damaging	1.00
R3076:Dlgap3	UTSW	4	127195706	missense	probably damaging	1.00
R4344:Dlgap3	UTSW	4	127214348	missense	possibly damaging	0.84
R4676:Dlgap3	UTSW	4	127233761	missense	probably damaging	0.99
R4720:Dlgap3	UTSW	4	127195715	critical splice donor site	probably null
R4893:Dlgap3	UTSW	4	127194983	missense	probably damaging	1.00
R5384:Dlgap3	UTSW	4	127236330	missense	probably damaging	1.00
R5841:Dlgap3	UTSW	4	127195400	missense	probably damaging	1.00
R5870:Dlgap3	UTSW	4	127195709	nonsense	probably null
R6379:Dlgap3	UTSW	4	127234974	missense	probably damaging	1.00
R7028:Dlgap3	UTSW	4	127195517	missense	possibly damaging	0.74
R7454:Dlgap3	UTSW	4	127235059	missense	probably null	0.01
R7479:Dlgap3	UTSW	4	127194625	missense	possibly damaging	0.72
R8104:Dlgap3	UTSW	4	127236154	missense	probably damaging	0.99
R8853:Dlgap3	UTSW	4	127195017	missense	probably damaging	0.99
R8921:Dlgap3	UTSW	4	127233670	missense	probably damaging	0.99
R9483:Dlgap3	UTSW	4	127233872	missense	probably damaging	0.96
X0024:Dlgap3	UTSW	4	127236172	missense	probably damaging	1.00
Z1177:Dlgap3	UTSW	4	127194984	missense	probably damaging	0.99
Z1177:Dlgap3	UTSW	4	127235498	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTGACAGTGGCTTTCTGG -3'
(R):5'- AAGTATCACAAGGCAGCGC -3'

Sequencing Primer
(F):5'- GCTTTCTGGGTGGGAGAC -3'
(R):5'- AGCGCCTCCTTCCTCCAAG -3'

Posted On

2015-03-18