Mutagenetix > Incidental Mutation

Incidental Mutation 'R4644:Doc2a'

386425

Institutional Source

Beutler Lab

Gene Symbol

Doc2a

Ensembl Gene

ENSMUSG00000052301

Gene Name

double C2, alpha

Synonyms

MMRRC Submission

041905-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R4644 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126446588-126451877 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 126450618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 298 (T298K)

Ref Sequence

ENSEMBL: ENSMUSP00000070119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050833] [ENSMUST00000064110] [ENSMUST00000106342] [ENSMUST00000106343] [ENSMUST00000137873] [ENSMUST00000139174] [ENSMUST00000206968] [ENSMUST00000206349] [ENSMUST00000205938] [ENSMUST00000141805] [ENSMUST00000147257] [ENSMUST00000152051]

AlphaFold

Q7TNF0

Predicted Effect

probably benign
Transcript: ENSMUST00000050833

SMART Domains

Protein: ENSMUSP00000049851
Gene: ENSMUSG00000030689

Domain	Start	End	E-Value	Type
low complexity region	25	42	N/A	INTRINSIC
low complexity region	59	81	N/A	INTRINSIC
low complexity region	86	108	N/A	INTRINSIC
low complexity region	116	132	N/A	INTRINSIC
low complexity region	163	171	N/A	INTRINSIC
low complexity region	184	199	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000064110
AA Change: T298K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000070119
Gene: ENSMUSG00000052301
AA Change: T298K

Domain	Start	End	E-Value	Type
Blast:C2	8	37	2e-10	BLAST
low complexity region	40	56	N/A	INTRINSIC
low complexity region	57	78	N/A	INTRINSIC
C2	110	215	1.68e-22	SMART
low complexity region	223	234	N/A	INTRINSIC
C2	272	386	2.44e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106342

SMART Domains

Protein: ENSMUSP00000101949
Gene: ENSMUSG00000030689

Domain	Start	End	E-Value	Type
low complexity region	44	66	N/A	INTRINSIC
low complexity region	74	90	N/A	INTRINSIC
low complexity region	121	129	N/A	INTRINSIC
low complexity region	142	157	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106343

SMART Domains

Protein: ENSMUSP00000101950
Gene: ENSMUSG00000030689

Domain	Start	End	E-Value	Type
coiled coil region	10	55	N/A	INTRINSIC
low complexity region	64	81	N/A	INTRINSIC
low complexity region	98	120	N/A	INTRINSIC
low complexity region	125	147	N/A	INTRINSIC
low complexity region	155	171	N/A	INTRINSIC
low complexity region	202	210	N/A	INTRINSIC
low complexity region	223	238	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125624

Predicted Effect

probably benign
Transcript: ENSMUST00000137873

SMART Domains

Protein: ENSMUSP00000119779
Gene: ENSMUSG00000052301

Domain	Start	End	E-Value	Type
Blast:C2	8	37	1e-11	BLAST
low complexity region	40	56	N/A	INTRINSIC
low complexity region	57	78	N/A	INTRINSIC
C2	110	175	1.44e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139174

SMART Domains

Protein: ENSMUSP00000117376
Gene: ENSMUSG00000052301

Domain	Start	End	E-Value	Type
Blast:C2	8	37	2e-12	BLAST
low complexity region	40	56	N/A	INTRINSIC
low complexity region	57	78	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205619

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154881

Predicted Effect

probably benign
Transcript: ENSMUST00000206968

Predicted Effect

probably benign
Transcript: ENSMUST00000205958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153764

Predicted Effect

probably benign
Transcript: ENSMUST00000206349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152406

Predicted Effect

probably benign
Transcript: ENSMUST00000205938

Predicted Effect

probably benign
Transcript: ENSMUST00000206090

Predicted Effect

probably benign
Transcript: ENSMUST00000176771

Predicted Effect

probably benign
Transcript: ENSMUST00000141805

SMART Domains

Protein: ENSMUSP00000118143
Gene: ENSMUSG00000052301

Domain	Start	End	E-Value	Type
Blast:C2	8	37	5e-12	BLAST
low complexity region	40	56	N/A	INTRINSIC
low complexity region	57	78	N/A	INTRINSIC
SCOP:d1rsy__	81	134	1e-10	SMART
PDB:4MJJ\|A	86	134	6e-26	PDB
Blast:C2	110	134	5e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000147257

SMART Domains

Protein: ENSMUSP00000123143
Gene: ENSMUSG00000052301

Domain	Start	End	E-Value	Type
Blast:C2	8	37	2e-12	BLAST
low complexity region	40	56	N/A	INTRINSIC
low complexity region	57	78	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152051

SMART Domains

Protein: ENSMUSP00000123483
Gene: ENSMUSG00000052301

Domain	Start	End	E-Value	Type
Blast:C2	8	37	6e-11	BLAST
low complexity region	40	56	N/A	INTRINSIC
low complexity region	57	78	N/A	INTRINSIC
C2	110	215	1.68e-22	SMART
low complexity region	223	234	N/A	INTRINSIC

Meta Mutation Damage Score

0.4225

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (44/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2A is mainly expressed in brain and is suggested to be involved in Ca(2+)-dependent neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous inactivation of this locus affects excitatory synaptic transmission, LTP, and learning/memory. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	G	1: 165,378,930 (GRCm39)		probably null	Het
Ano5	C	A	7: 51,237,433 (GRCm39)	Y702*	probably null	Het
Bsph2	A	T	7: 13,304,942 (GRCm39)	V11E	possibly damaging	Het
Camk1g	T	A	1: 193,038,667 (GRCm39)	D85V	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Cflar	T	A	1: 58,770,426 (GRCm39)	I173N	probably damaging	Het
Dgkd	T	C	1: 87,864,016 (GRCm39)	V904A	probably damaging	Het
Dnajc21	T	C	15: 10,464,003 (GRCm39)	D54G	possibly damaging	Het
Dsg1a	A	T	18: 20,473,785 (GRCm39)	I953L	probably benign	Het
Fga	C	A	3: 82,937,573 (GRCm39)	A150E	possibly damaging	Het
Frem3	T	A	8: 81,340,356 (GRCm39)	M883K	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Klhdc4	G	C	8: 122,548,739 (GRCm39)		probably benign	Het
Mgst1	T	C	6: 138,133,368 (GRCm39)	Y50H	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nsmaf	A	G	4: 6,419,940 (GRCm39)		probably benign	Het
Pp2d1	T	C	17: 53,823,015 (GRCm39)	K17R	probably benign	Het
Prss39	C	T	1: 34,541,207 (GRCm39)	T237M	probably damaging	Het
Ptpra	T	C	2: 130,386,078 (GRCm39)	I595T	probably damaging	Het
Ptpre	C	T	7: 135,253,661 (GRCm39)		probably benign	Het
Rictor	C	A	15: 6,807,416 (GRCm39)	C728*	probably null	Het
Scn11a	C	T	9: 119,644,269 (GRCm39)		probably null	Het
Scn1b	A	T	7: 30,817,212 (GRCm39)	L170*	probably null	Het
Semp2l2b	A	G	10: 21,942,660 (GRCm39)	V440A	probably benign	Het
Slc35f3	A	G	8: 127,047,809 (GRCm39)	R50G	possibly damaging	Het
Sorcs3	G	A	19: 48,672,036 (GRCm39)	V412M	probably damaging	Het
Spg11	C	T	2: 121,891,510 (GRCm39)	V1954I	probably benign	Het
Srcap	C	T	7: 127,151,770 (GRCm39)	R2049C	probably damaging	Het
Ssh2	T	C	11: 77,340,402 (GRCm39)	V518A	possibly damaging	Het
Stab1	G	A	14: 30,862,444 (GRCm39)		probably benign	Het
Tenm2	A	G	11: 35,937,963 (GRCm39)	F1570S	probably benign	Het
Tpr	T	A	1: 150,299,250 (GRCm39)	V1076E	probably benign	Het
Ttn	A	T	2: 76,562,757 (GRCm39)	Y26986*	probably null	Het
Unc45a	C	T	7: 79,978,257 (GRCm39)	A673T	probably damaging	Het
Utp25	A	G	1: 192,810,788 (GRCm39)	Y72H	probably damaging	Het

Other mutations in Doc2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Doc2a	APN	7	126,450,173 (GRCm39)	missense	probably damaging	1.00
R0423:Doc2a	UTSW	7	126,447,830 (GRCm39)	missense	probably damaging	1.00
R0538:Doc2a	UTSW	7	126,447,983 (GRCm39)	missense	probably benign	0.15
R1922:Doc2a	UTSW	7	126,450,603 (GRCm39)	missense	probably damaging	1.00
R1992:Doc2a	UTSW	7	126,450,979 (GRCm39)	critical splice donor site	probably null
R2402:Doc2a	UTSW	7	126,447,919 (GRCm39)	nonsense	probably null
R4344:Doc2a	UTSW	7	126,450,321 (GRCm39)	missense	probably damaging	1.00
R4741:Doc2a	UTSW	7	126,450,617 (GRCm39)	missense	possibly damaging	0.48
R4932:Doc2a	UTSW	7	126,447,752 (GRCm39)	unclassified	probably benign
R5926:Doc2a	UTSW	7	126,448,697 (GRCm39)	missense	probably damaging	1.00
R6646:Doc2a	UTSW	7	126,450,791 (GRCm39)	critical splice donor site	probably null
R8058:Doc2a	UTSW	7	126,450,164 (GRCm39)	missense	probably benign	0.13
R9269:Doc2a	UTSW	7	126,450,159 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AGAGCCTGTAGACTCACCTC -3'
(R):5'- TTTCTGTGAGGCCTAACCAC -3'

Sequencing Primer
(F):5'- GTAGACTCACCTCTGCCCC -3'
(R):5'- TGAGGCCTAACCACATCGCTG -3'

Posted On

2016-05-26