Mutagenetix > Incidental Mutation

Incidental Mutation 'R4344:Doc2a'

324265

Institutional Source

Beutler Lab

Gene Symbol

Doc2a

Ensembl Gene

ENSMUSG00000052301

Gene Name

double C2, alpha

Synonyms

MMRRC Submission

041101-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R4344 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126446588-126451877 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126450321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 156 (P156S)

Gene Model

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

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: P227S

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000070119
Gene: ENSMUSG00000052301
AA Change: P227S

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 damaging
Transcript: ENSMUST00000176771
AA Change: P156S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000152051
AA Change: P227S

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000123483
Gene: ENSMUSG00000052301
AA Change: P227S

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 benign
Transcript: ENSMUST00000206349

Predicted Effect

probably benign
Transcript: ENSMUST00000205619

Predicted Effect

probably benign
Transcript: ENSMUST00000206090

Predicted Effect

probably benign
Transcript: ENSMUST00000205938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205493

Predicted Effect

probably benign
Transcript: ENSMUST00000206968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152406

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153764

Predicted Effect

probably benign
Transcript: ENSMUST00000205958

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: 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

Meta Mutation Damage Score

0.0619

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (39/40)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	G	T	1: 25,865,829 (GRCm39)	R5S	possibly damaging	Het
Ccdc168	G	A	1: 44,100,151 (GRCm39)	L316F	possibly damaging	Het
Ccdc187	T	A	2: 26,170,681 (GRCm39)	K599I	probably damaging	Het
Ccn5	G	A	2: 163,670,906 (GRCm39)	V138M	probably damaging	Het
Cd38	A	C	5: 44,026,431 (GRCm39)	I72L	probably benign	Het
Cep19	C	T	16: 31,925,883 (GRCm39)	T97M	probably damaging	Het
Ces2a	T	G	8: 105,463,766 (GRCm39)	D159E	probably damaging	Het
Dcc	G	A	18: 71,507,561 (GRCm39)	A917V	probably damaging	Het
Dennd6b	G	A	15: 89,072,866 (GRCm39)	A196V	probably benign	Het
Dlgap3	T	C	4: 127,108,141 (GRCm39)	S475P	possibly damaging	Het
Elmo1	T	A	13: 20,445,722 (GRCm39)		probably null	Het
Fbf1	A	G	11: 116,038,568 (GRCm39)	V851A	probably benign	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Gm5878	G	A	6: 85,102,633 (GRCm39)	R31*	probably null	Het
Klk1b8	C	A	7: 43,595,186 (GRCm39)		probably benign	Het
Lmcd1	T	A	6: 112,264,968 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,873,051 (GRCm39)	I2750K	probably benign	Het
Muc4	A	G	16: 32,590,666 (GRCm39)	N2958S	possibly damaging	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Ppp1r16b	G	A	2: 158,591,106 (GRCm39)	V163I	probably damaging	Het
Prkdc	T	A	16: 15,585,886 (GRCm39)	W2475R	probably damaging	Het
Rad54l	C	T	4: 115,954,551 (GRCm39)	C684Y	probably damaging	Het
Ralgds	T	C	2: 28,442,107 (GRCm39)	L96P	probably damaging	Het
Rasef	T	A	4: 73,663,326 (GRCm39)	H167L	probably damaging	Het
Sh3bp2	T	C	5: 34,712,886 (GRCm39)	F165L	possibly damaging	Het
Slc38a9	T	C	13: 112,865,749 (GRCm39)	I482T	probably benign	Het
Tmprss6	T	A	15: 78,343,627 (GRCm39)		probably null	Het
Trpm3	A	T	19: 22,875,061 (GRCm39)	S568C	probably damaging	Het
Ttc39c	T	A	18: 12,861,667 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ugt2b5	A	T	5: 87,287,582 (GRCm39)	V195E	probably damaging	Het
Vmn2r22	C	T	6: 123,614,756 (GRCm39)	G278D	probably damaging	Het
Yme1l1	G	A	2: 23,063,073 (GRCm39)	A215T	probably benign	Het
Zmynd15	C	T	11: 70,351,894 (GRCm39)	R38*	probably null	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
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'- AATTCATTGGGGAGATCCGAGTG -3'
(R):5'- AACATCCATTGCAGCCAGG -3'

Sequencing Primer
(F):5'- AGATCCGAGTGCCCCTC -3'
(R):5'- TGAGGCTCAGCAGGATGC -3'

Posted On

2015-06-24