Mutagenetix > Incidental Mutation

Incidental Mutation 'R2402:Doc2a'

248745

Institutional Source

Beutler Lab

Gene Symbol

Doc2a

Ensembl Gene

ENSMUSG00000052301

Gene Name

double C2, alpha

Synonyms

MMRRC Submission

040368-MU

Accession Numbers

Essential gene?

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

Stock #

R2402 (G1)

Quality Score

111

Status

Not validated

Chromosome

Chromosomal Location

126446588-126451877 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 126447919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 54 (C54*)

Ref Sequence

ENSEMBL: ENSMUSP00000123483 (fasta)

Gene Model

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

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 null
Transcript: ENSMUST00000064110
AA Change: C54*

SMART Domains

Protein: ENSMUSP00000070119
Gene: ENSMUSG00000052301
AA Change: C54*

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 null
Transcript: ENSMUST00000137873
AA Change: C54*

SMART Domains

Protein: ENSMUSP00000119779
Gene: ENSMUSG00000052301
AA Change: C54*

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 null
Transcript: ENSMUST00000139174
AA Change: C54*

SMART Domains

Protein: ENSMUSP00000117376
Gene: ENSMUSG00000052301
AA Change: C54*

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 null
Transcript: ENSMUST00000152051
AA Change: C54*

SMART Domains

Protein: ENSMUSP00000123483
Gene: ENSMUSG00000052301
AA Change: C54*

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

Predicted Effect

probably null
Transcript: ENSMUST00000141805
AA Change: C54*

SMART Domains

Protein: ENSMUSP00000118143
Gene: ENSMUSG00000052301
AA Change: C54*

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 null
Transcript: ENSMUST00000147257
AA Change: C54*

SMART Domains

Protein: ENSMUSP00000123143
Gene: ENSMUSG00000052301
AA Change: C54*

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: ENSMUST00000206349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153764

Predicted Effect

probably benign
Transcript: ENSMUST00000206968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205493

Predicted Effect

probably benign
Transcript: ENSMUST00000205619

Predicted Effect

probably benign
Transcript: ENSMUST00000206090

Predicted Effect

probably benign
Transcript: ENSMUST00000205938

Predicted Effect

probably benign
Transcript: ENSMUST00000205958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152406

Predicted Effect

probably benign
Transcript: ENSMUST00000176771

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.6%
20x: 92.5%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	A	8: 87,235,770 (GRCm39)	D1199V	probably damaging	Het
Abcc6	A	T	7: 45,664,999 (GRCm39)	S277R	probably benign	Het
Acvrl1	A	G	15: 101,035,280 (GRCm39)	S269G	probably damaging	Het
Akap10	T	C	11: 61,806,048 (GRCm39)	S227G	probably benign	Het
Angptl8	T	C	9: 21,747,112 (GRCm39)		probably null	Het
Arsi	T	C	18: 61,049,539 (GRCm39)	S141P	possibly damaging	Het
Atic	T	A	1: 71,608,216 (GRCm39)	Y303*	probably null	Het
Bbs9	C	T	9: 22,557,359 (GRCm39)	P510L	probably benign	Het
Bcl2a1b	A	G	9: 89,081,795 (GRCm39)	N128S	probably benign	Het
Bcl2a1d	A	T	9: 88,613,549 (GRCm39)	M75K	probably damaging	Het
Carm1	T	A	9: 21,494,836 (GRCm39)	L324Q	probably damaging	Het
Caskin1	T	A	17: 24,722,782 (GRCm39)	L550Q	probably damaging	Het
Cd302	A	G	2: 60,087,412 (GRCm39)	I142T	probably benign	Het
Cep350	A	T	1: 155,738,882 (GRCm39)	D2320E	probably benign	Het
Cgnl1	A	G	9: 71,632,461 (GRCm39)	S297P	probably damaging	Het
Cr1l	T	A	1: 194,789,210 (GRCm39)	Y398F	probably benign	Het
Ctsa	A	T	2: 164,676,813 (GRCm39)	D145V	probably benign	Het
Ctsj	C	T	13: 61,148,388 (GRCm39)	G303D	probably damaging	Het
Dnah17	T	C	11: 118,016,800 (GRCm39)	I250M	probably benign	Het
Dpy19l2	T	C	9: 24,492,544 (GRCm39)	T685A	probably damaging	Het
Dtna	T	A	18: 23,728,535 (GRCm39)	C243*	probably null	Het
Exoc3l4	A	G	12: 111,388,690 (GRCm39)	T60A	possibly damaging	Het
Exph5	C	A	9: 53,286,225 (GRCm39)	S1102*	probably null	Het
Fhl3	T	C	4: 124,599,481 (GRCm39)	Y19H	probably damaging	Het
Flt4	A	G	11: 49,528,646 (GRCm39)	E1012G	possibly damaging	Het
Flvcr2	A	G	12: 85,829,777 (GRCm39)	N262S	probably benign	Het
Gon4l	G	T	3: 88,766,350 (GRCm39)	C463F	probably damaging	Het
H2-T10	A	T	17: 36,428,631 (GRCm39)		probably null	Het
Heatr3	T	C	8: 88,871,200 (GRCm39)	C185R	probably benign	Het
Hectd1	A	G	12: 51,792,317 (GRCm39)	V2474A	probably benign	Het
Htr3a	C	T	9: 48,812,795 (GRCm39)	E215K	probably damaging	Het
Ica1l	T	C	1: 60,045,451 (GRCm39)	T271A	probably benign	Het
Klra2	A	G	6: 131,220,864 (GRCm39)	I66T	probably benign	Het
Neto2	T	C	8: 86,417,541 (GRCm39)	K21R	probably benign	Het
Niban1	A	G	1: 151,565,365 (GRCm39)	T232A	probably benign	Het
Nisch	T	A	14: 30,906,971 (GRCm39)		probably benign	Het
Nr4a1	G	T	15: 101,169,618 (GRCm39)	R296L	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or7g19	T	A	9: 18,856,496 (GRCm39)	I184N	probably damaging	Het
Or8b50	T	C	9: 38,518,397 (GRCm39)	V212A	probably benign	Het
Pcsk5	A	T	19: 17,452,198 (GRCm39)	C1102*	probably null	Het
Phip	C	T	9: 82,757,358 (GRCm39)	A1605T	probably benign	Het
Pstpip2	T	A	18: 77,942,564 (GRCm39)	M105K	possibly damaging	Het
Qprt	C	T	7: 126,707,532 (GRCm39)	V219I	probably benign	Het
Ralgapa2	A	T	2: 146,195,112 (GRCm39)	N1271K	probably damaging	Het
Reg3g	A	T	6: 78,444,475 (GRCm39)	L106H	probably damaging	Het
Rhobtb1	G	A	10: 69,106,254 (GRCm39)	G273D	probably benign	Het
Rimbp2	T	C	5: 128,861,952 (GRCm39)	D771G	probably damaging	Het
Sos2	T	C	12: 69,643,573 (GRCm39)	I935V	possibly damaging	Het
Tcf12	A	T	9: 71,763,792 (GRCm39)	N397K	probably damaging	Het
Tgtp2	T	C	11: 48,949,957 (GRCm39)	Q205R	probably benign	Het
Tle5	T	A	10: 81,400,712 (GRCm39)	C89S	possibly damaging	Het
Tubb2b	T	C	13: 34,312,209 (GRCm39)	N195D	probably benign	Het
Unc13b	A	G	4: 43,095,843 (GRCm39)	T84A	probably benign	Het
Usb1	T	A	8: 96,069,759 (GRCm39)	F102L	probably benign	Het
Vmn2r61	A	G	7: 41,949,529 (GRCm39)	T650A	possibly damaging	Het
Zbtb41	A	C	1: 139,350,923 (GRCm39)	D12A	probably benign	Het
Zbtb41	G	T	1: 139,350,925 (GRCm39)	E13*	probably null	Het
Zfp821	C	T	8: 110,447,872 (GRCm39)	S71F	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
R4344:Doc2a	UTSW	7	126,450,321 (GRCm39)	missense	probably damaging	1.00
R4644:Doc2a	UTSW	7	126,450,618 (GRCm39)	missense	probably benign	0.02
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'- AGTCAGAGGTGCTGCATGAG -3'
(R):5'- GCTGAAGCTGTAATCTGCACCC -3'

Sequencing Primer
(F):5'- GTGCTGCATGAGGGGCC -3'
(R):5'- ACCCAGACTGCAGCTGTG -3'

Posted On

2014-11-11