Mutagenetix > Incidental Mutations

Incidental Mutation 'R6146:Dcdc2a'

488896

Institutional Source

Beutler Lab

Gene Symbol

Dcdc2a

Ensembl Gene

ENSMUSG00000035910

Gene Name

doublecortin domain containing 2a

Synonyms

RU2, Dcdc2

MMRRC Submission

044293-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.361) question?

Stock #

R6146 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25056004-25210706 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25205457 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 456 (V456A)

Ref Sequence

ENSEMBL: ENSMUSP00000063650 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000069614
AA Change: V456A

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000063650
Gene: ENSMUSG00000035910
AA Change: V456A

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: ENSMUST00000160363

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 8,896,587	E29G	probably benign	Het
Abi3bp	T	C	16: 56,671,265	S552P	probably damaging	Het
Adgrg7	A	G	16: 56,773,466	I129T	probably benign	Het
Adhfe1	A	G	1: 9,553,718	N148S	probably damaging	Het
AI182371	A	G	2: 35,097,971	Y77H	probably damaging	Het
Aldh5a1	C	T	13: 24,919,678		probably null	Het
Ankrd2	A	G	19: 42,040,105	T67A	possibly damaging	Het
Anln	A	T	9: 22,376,308	C232*	probably null	Het
C330027C09Rik	A	T	16: 48,994,329	K18*	probably null	Het
Cchcr1	A	G	17: 35,528,578	D587G	possibly damaging	Het
Cgn	G	T	3: 94,767,125	Q901K	possibly damaging	Het
Cluh	G	T	11: 74,667,228		probably null	Het
Crebbp	G	A	16: 4,084,623	Q2213*	probably null	Het
Cyp2d22	T	A	15: 82,373,835		probably null	Het
Depdc5	A	G	5: 32,968,731	E569G	probably benign	Het
Dnah5	T	C	15: 28,459,185	F4517L	probably benign	Het
Doc2b	T	C	11: 75,773,595	K317E	probably damaging	Het
Dysf	T	A	6: 84,203,199	D1951E	probably damaging	Het
Epha6	C	A	16: 60,424,835	A334S	possibly damaging	Het
F2rl2	A	C	13: 95,700,641	I65L	probably benign	Het
Fbxw17	A	G	13: 50,432,512	K417E	probably benign	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Fxr2	A	G	11: 69,641,339	M96V	possibly damaging	Het
Kcnj10	C	A	1: 172,369,325	Y135*	probably null	Het
Kidins220	G	A	12: 25,052,813	R1238Q	probably damaging	Het
Krt31	T	C	11: 100,048,230	N255S	probably benign	Het
Lrp2	T	C	2: 69,511,001	D945G	probably benign	Het
Lrrc66	T	C	5: 73,608,089	D537G	probably benign	Het
Ltbp4	T	A	7: 27,319,724	I992F	probably damaging	Het
Lzts1	A	G	8: 69,140,872	S28P	probably benign	Het
Mrc2	C	A	11: 105,325,644	N86K	probably damaging	Het
Mroh6	C	A	15: 75,886,637	A302S	possibly damaging	Het
Muc16	T	A	9: 18,497,797	N198Y	probably damaging	Het
Myo9a	T	C	9: 59,871,229	S1423P	probably benign	Het
Olfr1006	T	A	2: 85,674,594	K186*	probably null	Het
Olfr1124	A	T	2: 87,435,318	D277V	possibly damaging	Het
Olfr1141	A	C	2: 87,753,258	L245R	probably damaging	Het
Olfr1367	A	T	13: 21,346,994	Y22F	possibly damaging	Het
Olfr190	A	G	16: 59,074,714	V122A	probably benign	Het
Olfr477	G	T	7: 107,990,413	G16V	probably damaging	Het
Otogl	G	A	10: 107,777,117		silent	Het
Polg	T	C	7: 79,450,512	M1184V	probably benign	Het
Prl8a8	T	C	13: 27,510,480	Y108C	probably damaging	Het
Proser1	T	A	3: 53,478,119	I474N	probably damaging	Het
Rab44	A	G	17: 29,135,417		probably benign	Het
Rbp1	C	A	9: 98,425,616	D79E	possibly damaging	Het
Rnf213	T	C	11: 119,435,999	V1605A	probably benign	Het
Rps24	A	T	14: 24,490,735		probably null	Het
Setd5	T	C	6: 113,121,812		probably null	Het
Slc38a3	T	C	9: 107,655,029	I435V	probably benign	Het
Slco1a5	T	A	6: 142,234,808	M623L	probably benign	Het
Spaca9	G	A	2: 28,693,781	R64W	probably damaging	Het
Spn	A	G	7: 127,136,307	S343P	possibly damaging	Het
Sptan1	A	G	2: 30,004,523	T1168A	probably benign	Het
Sptbn4	A	T	7: 27,364,587	L2138*	probably null	Het
Tg	T	A	15: 66,673,367		probably null	Het
Tigd5	T	A	15: 75,910,245	L152Q	probably damaging	Het
Tmem163	C	T	1: 127,519,389	V170I	probably benign	Het
Tpr	T	C	1: 150,423,162	C1068R	possibly damaging	Het
Ttc37	A	G	13: 76,185,240	E1536G	probably damaging	Het
Ubr1	A	T	2: 120,893,209	Y1290N	probably damaging	Het
Vmn1r184	T	A	7: 26,267,392	F188I	probably benign	Het
Vmn2r100	G	A	17: 19,522,260	V299I	probably benign	Het
Vmn2r91	T	G	17: 18,136,256	H728Q	probably benign	Het
Vta1	T	C	10: 14,705,352	Y37C	probably damaging	Het
Wbp2	C	A	11: 116,083,902	M35I	probably benign	Het
Zcchc9	G	A	13: 91,805,867	Q90*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TGGTCACGTGAGGTATCAAC -3'
(R):5'- AATGCAATAGGTAGGGCCTC -3'

Sequencing Primer
(F):5'- GTATCAACCAACTAAAGGGCTG -3'
(R):5'- TAGGGCCTCCACCACATTG -3'

Posted On

2017-10-10