Mutagenetix > Incidental Mutation

Incidental Mutation 'R1301:Dcdc2a'

158381

Institutional Source

Beutler Lab

Gene Symbol

Dcdc2a

Ensembl Gene

ENSMUSG00000035910

Gene Name

doublecortin domain containing 2a

Synonyms

RU2, Dcdc2

MMRRC Submission

039367-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.388) question?

Stock #

R1301 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25056004-25210706 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25102586 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 164 (N164I)

Ref Sequence

ENSEMBL: ENSMUSP00000047641 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036932
AA Change: N164I

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047641
Gene: ENSMUSG00000035910
AA Change: N164I

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

possibly damaging
Transcript: ENSMUST00000069614
AA Change: N164I

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000063650
Gene: ENSMUSG00000035910
AA Change: N164I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159129

Meta Mutation Damage Score

0.0874

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.3%
20x: 82.6%

Validation Efficiency

96% (67/70)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano1	A	G	7: 144,633,689	W447R	possibly damaging	Het
Blm	T	A	7: 80,455,417	K103*	probably null	Het
Camta2	A	G	11: 70,676,404	I675T	probably benign	Het
Catsperz	G	A	19: 6,925,082	R15C	probably damaging	Het
Chd1l	T	C	3: 97,603,648		probably benign	Het
Corin	C	A	5: 72,304,933	E844D	possibly damaging	Het
Cyb5rl	T	G	4: 107,080,907	M127R	probably damaging	Het
Dnah6	A	G	6: 73,208,545		probably null	Het
Emilin2	T	C	17: 71,255,965		probably benign	Het
Epb41l2	T	A	10: 25,443,902	V211D	probably damaging	Het
Fbxo47	C	T	11: 97,868,601	M166I	probably benign	Het
Gm13124	T	A	4: 144,565,065	I24L	probably benign	Het
Gm4450	G	A	3: 98,446,866	Q106*	probably null	Het
Golm1	T	C	13: 59,638,373	D335G	probably damaging	Het
Gpn1	T	A	5: 31,503,429	M188K	probably damaging	Het
Gpr84	T	A	15: 103,309,219	S144C	probably damaging	Het
Grm8	G	T	6: 27,981,201	Q237K	possibly damaging	Het
Gsdmd	C	A	15: 75,867,059		probably null	Het
Hmgcr	G	A	13: 96,659,020	T347I	probably damaging	Het
Hsd17b7	T	A	1: 169,961,205		probably benign	Het
Klhl7	T	G	5: 24,159,491	W508G	probably damaging	Het
Lrp2	C	A	2: 69,428,604	D4581Y	probably damaging	Het
Lrrc7	T	C	3: 158,135,331	N1357D	probably benign	Het
Macf1	T	C	4: 123,486,658		probably benign	Het
Mroh7	T	C	4: 106,720,495	T329A	probably damaging	Het
Mroh9	C	T	1: 163,043,983		probably null	Het
Mta2	A	G	19: 8,949,186		probably benign	Het
Myo3a	A	T	2: 22,267,095		probably benign	Het
Nrip2	A	G	6: 128,407,389	D153G	probably benign	Het
Nup133	T	C	8: 123,917,417		probably benign	Het
Nup210	C	T	6: 91,042,347	V259M	possibly damaging	Het
Olfr1338	C	T	4: 118,753,619	M308I	probably benign	Het
Olfr1466	A	T	19: 13,341,847	I30F	probably benign	Het
Olfr1499	A	T	19: 13,815,362	V76D	probably damaging	Het
Otog	C	T	7: 46,289,689	R2048C	probably damaging	Het
Paqr7	T	C	4: 134,507,813	L327P	probably damaging	Het
Parl	A	G	16: 20,286,926	S249P	probably damaging	Het
Phc1	A	G	6: 122,325,874	I230T	probably benign	Het
Pitpnm1	T	G	19: 4,110,831		probably null	Het
Plpp1	A	G	13: 112,834,943	Y48C	probably damaging	Het
Pxdc1	A	G	13: 34,628,887	F194L	probably benign	Het
Rp1	A	T	1: 4,345,936	V1651D	possibly damaging	Het
Serpinb1c	T	A	13: 32,896,960	R47*	probably null	Het
Sis	T	C	3: 72,946,582	T521A	possibly damaging	Het
Slc16a9	A	G	10: 70,282,478	D209G	probably benign	Het
Slc26a4	A	T	12: 31,525,568	C706*	probably null	Het
Slc37a2	A	G	9: 37,236,881	V325A	probably benign	Het
Speg	T	A	1: 75,401,501	D784E	probably damaging	Het
Sycp1	T	C	3: 102,920,622	I270V	probably benign	Het
Tatdn2	T	A	6: 113,704,115	F309I	probably damaging	Het
Tmem206	T	C	1: 191,348,435	V284A	probably damaging	Het
Tmem67	T	C	4: 12,089,400		probably benign	Het
Trpm1	T	A	7: 64,203,053		probably null	Het
Wrn	T	C	8: 33,292,686	R496G	probably damaging	Het
Zfhx2	A	G	14: 55,063,397	V2299A	probably benign	Het
Zfp819	T	A	7: 43,617,100	S260T	possibly 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
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
R6956:Dcdc2a	UTSW	13	25119366	missense	probably benign	0.02
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'- TCATTCACAGCAGGATCAACGTGTC -3'
(R):5'- GCCAAACGTCAAATCTAGGGGTCAG -3'

Sequencing Primer
(F):5'- TTCAGGAAGTCGCTGCAC -3'
(R):5'- GGGTCAGTGACTTCAGAGC -3'

Posted On

2014-02-18