Mutagenetix > Incidental Mutation

Incidental Mutation 'R6956:Dcdc2a'

541472

Institutional Source

Beutler Lab

Gene Symbol

Dcdc2a

Ensembl Gene

ENSMUSG00000035910

Gene Name

doublecortin domain containing 2a

Synonyms

RU2, Dcdc2

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.305) question?

Stock #

R6956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25056004-25210706 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25119366 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 293 (S293R)

Ref Sequence

ENSEMBL: ENSMUSP00000047641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036932] [ENSMUST00000069614]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000036932
AA Change: S293R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000047641
Gene: ENSMUSG00000035910
AA Change: S293R

Domain	Start	End	E-Value	Type
DCX	12	100	2.93e-40	SMART
DCX	134	221	1.76e-34	SMART
low complexity region	286	299	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000069614
AA Change: S293R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000063650
Gene: ENSMUSG00000035910
AA Change: S293R

Domain	Start	End	E-Value	Type
DCX	12	100	2.93e-40	SMART
DCX	134	221	1.76e-34	SMART
low complexity region	286	299	N/A	INTRINSIC
low complexity region	325	340	N/A	INTRINSIC
coiled coil region	409	437	N/A	INTRINSIC
low complexity region	461	475	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (43/43)

MGI Phenotype

FUNCTION: This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired short term object recognition, impaired visuo-spatial learning and memory and increased anxiety-related response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	T	A	14: 95,882,433	W209R	probably damaging	Het
Aars	G	A	8: 111,055,130	V945M	probably benign	Het
Amotl2	A	G	9: 102,724,768	T371A	probably damaging	Het
Bmpr1a	A	G	14: 34,441,175	I86T	possibly damaging	Het
C9	A	T	15: 6,445,464	M35L	probably benign	Het
Cc2d1a	G	T	8: 84,135,899	P661T	probably damaging	Het
Dchs2	T	A	3: 83,353,926	N2500K	probably benign	Het
Dicer1	A	G	12: 104,731,023	S92P	probably damaging	Het
Dnah7a	T	A	1: 53,577,287	I1172F	probably benign	Het
Dnajc6	A	G	4: 101,614,273	S364G	probably damaging	Het
Dpp6	A	T	5: 27,598,821	N255I	probably damaging	Het
Eif2ak4	T	C	2: 118,422,267	I440T	probably damaging	Het
Fam155a	T	A	8: 9,770,744	Q92L	probably benign	Het
Fam184b	T	C	5: 45,530,757	T937A	probably damaging	Het
Fam229b	T	A	10: 39,133,847		probably null	Het
Gbp11	A	G	5: 105,328,375		probably null	Het
Gipc2	A	G	3: 152,094,248	F282L	probably benign	Het
Gm4858	T	C	3: 93,073,972	V25A	possibly damaging	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
H2-T3	T	A	17: 36,189,371	Y144F	probably damaging	Het
Kel	T	G	6: 41,687,973	D7A	probably damaging	Het
Lrrc7	A	G	3: 158,289,031	V166A	probably benign	Het
Mapt	T	C	11: 104,318,255		probably null	Het
March3	A	G	18: 56,775,981	V244A	probably benign	Het
Mboat1	T	C	13: 30,238,076	V396A	possibly damaging	Het
Mphosph9	T	C	5: 124,297,558	D604G	probably damaging	Het
Muc16	T	C	9: 18,645,026	T3324A	unknown	Het
Nat10	T	C	2: 103,734,412	I495V	probably benign	Het
Olfr784	A	T	10: 129,388,297	K221N	probably benign	Het
Pfkfb2	T	C	1: 130,707,600	N75D	probably damaging	Het
Psmd3	T	A	11: 98,695,551	L515Q	probably damaging	Het
Rpgrip1l	A	C	8: 91,286,313		probably null	Het
Scube1	T	C	15: 83,721,876	Y65C	probably damaging	Het
Slc12a4	A	G	8: 105,953,852	F211L	probably damaging	Het
Socs7	T	C	11: 97,377,023	S327P	probably benign	Het
Spef2	A	T	15: 9,684,935	D591E	probably damaging	Het
Sult2a6	T	A	7: 14,254,823	D4V	possibly damaging	Het
Tdrd9	A	G	12: 112,036,354		probably benign	Het
Tgm4	G	T	9: 123,064,703	M155I	possibly damaging	Het
Togaram2	T	C	17: 71,729,188	V891A	probably benign	Het
Usp1	A	G	4: 98,931,006	E235G	probably damaging	Het
Usp2	T	A	9: 44,092,756	V533E	probably damaging	Het
Vcan	T	A	13: 89,689,431	I2665F	probably damaging	Het
Vmn2r31	G	A	7: 7,394,506	S251L	probably benign	Het
Vmn2r84	C	A	10: 130,389,267	C458F	probably damaging	Het

Other mutations in Dcdc2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Dcdc2a	APN	13	25119329	missense	probably benign	0.00
IGL01314:Dcdc2a	APN	13	25102604	missense	probably damaging	1.00
IGL02171:Dcdc2a	APN	13	25056434	missense	probably damaging	1.00
IGL02490:Dcdc2a	APN	13	25107652	missense	probably damaging	1.00
R0128:Dcdc2a	UTSW	13	25187672	splice site	probably benign
R0130:Dcdc2a	UTSW	13	25187672	splice site	probably benign
R0366:Dcdc2a	UTSW	13	25056434	missense	probably damaging	1.00
R0507:Dcdc2a	UTSW	13	25102589	missense	probably damaging	0.99
R0514:Dcdc2a	UTSW	13	25119386	missense	probably benign	0.04
R1055:Dcdc2a	UTSW	13	25102610	missense	probably damaging	0.99
R1170:Dcdc2a	UTSW	13	25056307	missense	probably benign	0.34
R1301:Dcdc2a	UTSW	13	25102586	missense	possibly damaging	0.93
R1514:Dcdc2a	UTSW	13	25061254	missense	probably benign	0.05
R1842:Dcdc2a	UTSW	13	25107602	missense	probably damaging	1.00
R2060:Dcdc2a	UTSW	13	25107710	missense	possibly damaging	0.59
R2121:Dcdc2a	UTSW	13	25119285	missense	possibly damaging	0.93
R2122:Dcdc2a	UTSW	13	25119285	missense	possibly damaging	0.93
R2900:Dcdc2a	UTSW	13	25120498	missense	probably benign	0.01
R3153:Dcdc2a	UTSW	13	25102357	missense	probably benign	0.03
R3154:Dcdc2a	UTSW	13	25102357	missense	probably benign	0.03
R4353:Dcdc2a	UTSW	13	25056491	missense	probably damaging	1.00
R4608:Dcdc2a	UTSW	13	25061240	nonsense	probably null
R5099:Dcdc2a	UTSW	13	25107698	missense	probably benign	0.12
R5128:Dcdc2a	UTSW	13	25102529	missense	probably damaging	1.00
R5181:Dcdc2a	UTSW	13	25202364	missense	possibly damaging	0.94
R5271:Dcdc2a	UTSW	13	25187688	missense	probably benign	0.35
R5869:Dcdc2a	UTSW	13	25107730	missense	probably benign	0.05
R6058:Dcdc2a	UTSW	13	25056371	missense	possibly damaging	0.82
R6146:Dcdc2a	UTSW	13	25205457	missense	probably benign	0.35
R6892:Dcdc2a	UTSW	13	25056460	missense	probably damaging	1.00
R6972:Dcdc2a	UTSW	13	25120389	intron	probably benign
R6973:Dcdc2a	UTSW	13	25120389	intron	probably benign
R7097:Dcdc2a	UTSW	13	25107698	missense	probably benign	0.12
R7247:Dcdc2a	UTSW	13	25102391	missense	probably benign	0.00
R7390:Dcdc2a	UTSW	13	25107617	missense	possibly damaging	0.89
R7570:Dcdc2a	UTSW	13	25119373	missense	probably benign
R7636:Dcdc2a	UTSW	13	25102622	missense	probably damaging	1.00
R7644:Dcdc2a	UTSW	13	25107691	missense	probably damaging	1.00
R7898:Dcdc2a	UTSW	13	25102378	missense	possibly damaging	0.67
R8070:Dcdc2a	UTSW	13	25202197	missense	probably benign	0.00
R8183:Dcdc2a	UTSW	13	25107650	missense	possibly damaging	0.95
R8829:Dcdc2a	UTSW	13	25110068	nonsense	probably null
R8865:Dcdc2a	UTSW	13	25202283	missense	probably benign	0.00
R8867:Dcdc2a	UTSW	13	25202283	missense	probably benign	0.00
R8868:Dcdc2a	UTSW	13	25202283	missense	probably benign	0.00
R9290:Dcdc2a	UTSW	13	25202330	missense	probably benign
R9694:Dcdc2a	UTSW	13	25102357	missense	probably benign	0.27
R9760:Dcdc2a	UTSW	13	25205460	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCACATGAATGTACTGGG -3'
(R):5'- TGTGAGCCCGGATAAGTGAC -3'

Sequencing Primer
(F):5'- GAACAGTTCACGAGCCAGTTGTG -3'
(R):5'- CGGTAGGTAGTTAAAGCCCACTTAC -3'

Posted On

2018-11-28