Mutagenetix > Incidental Mutation

Incidental Mutation 'R0130:Dcdc2a'

50117

Institutional Source

Beutler Lab

Gene Symbol

Dcdc2a

Ensembl Gene

ENSMUSG00000035910

Gene Name

doublecortin domain containing 2a

Synonyms

RU2, Dcdc2

MMRRC Submission

038415-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.377) question?

Stock #

R0130 (G1)

Quality Score

202

Status

Validated (trace)

Chromosome

Chromosomal Location

25239987-25394689 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 25371655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000063650
Gene: ENSMUSG00000035910

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: 99.0%
3x: 97.7%
10x: 93.4%
20x: 80.2%

Validation Efficiency

99% (84/85)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	T	17: 84,994,094 (GRCm39)	Y37F	probably damaging	Het
Ablim2	G	A	5: 35,966,520 (GRCm39)		probably benign	Het
Anxa9	A	G	3: 95,209,733 (GRCm39)	S129P	probably benign	Het
Apol7c	A	G	15: 77,410,562 (GRCm39)	I128T	possibly damaging	Het
Arfgef2	T	G	2: 166,677,639 (GRCm39)	I88S	probably damaging	Het
Arfip2	A	G	7: 105,288,205 (GRCm39)		probably benign	Het
Atp5mf	A	T	5: 145,124,992 (GRCm39)		probably benign	Het
Atp7b	C	T	8: 22,518,188 (GRCm39)	E205K	possibly damaging	Het
Atp8b5	T	A	4: 43,369,715 (GRCm39)		probably null	Het
Cd22	A	G	7: 30,569,389 (GRCm39)	Y402H	possibly damaging	Het
Cd248	A	G	19: 5,119,990 (GRCm39)	T613A	probably benign	Het
Cdcp2	C	T	4: 106,963,904 (GRCm39)		probably benign	Het
Cenpc1	A	T	5: 86,194,405 (GRCm39)	D120E	probably benign	Het
Chd3	T	A	11: 69,250,656 (GRCm39)	H691L	probably damaging	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cped1	T	A	6: 22,121,038 (GRCm39)	Y373N	probably benign	Het
Cr2	A	T	1: 194,848,539 (GRCm39)	V328D	probably damaging	Het
Ctnnd2	A	T	15: 30,922,059 (GRCm39)	E895V	probably damaging	Het
D630045J12Rik	A	T	6: 38,126,706 (GRCm39)		probably benign	Het
Dync1h1	C	A	12: 110,585,108 (GRCm39)	T837K	probably benign	Het
Eif2ak3	C	A	6: 70,858,716 (GRCm39)		probably benign	Het
Epb41l5	A	C	1: 119,477,632 (GRCm39)	V705G	possibly damaging	Het
Fat2	T	A	11: 55,142,944 (GRCm39)	M4302L	probably benign	Het
Flnb	T	C	14: 7,901,951 (GRCm38)	V938A	probably damaging	Het
Frmd4a	T	C	2: 4,608,903 (GRCm39)	Y928H	probably damaging	Het
Fyn	C	T	10: 39,387,978 (GRCm39)	T78M	probably benign	Het
Gdap2	A	G	3: 100,109,311 (GRCm39)	T443A	probably damaging	Het
Gde1	A	T	7: 118,294,283 (GRCm39)	F63L	probably benign	Het
Gjc3	A	G	5: 137,956,202 (GRCm39)	S28P	probably benign	Het
Gm10250	G	A	15: 5,150,473 (GRCm39)		probably null	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Klhl23	T	C	2: 69,664,310 (GRCm39)	V553A	probably damaging	Het
Lman2l	G	T	1: 36,463,945 (GRCm39)	S171*	probably null	Het
Lrp1b	T	C	2: 41,401,520 (GRCm39)	D378G	probably damaging	Het
Map3k11	T	C	19: 5,740,843 (GRCm39)	L190P	probably damaging	Het
Mki67	T	A	7: 135,298,188 (GRCm39)	Q2282L	probably damaging	Het
Mthfd2	T	A	6: 83,285,990 (GRCm39)	I272F	probably damaging	Het
Myom1	A	T	17: 71,352,750 (GRCm39)	D358V	probably damaging	Het
Nebl	T	C	2: 17,395,737 (GRCm39)		probably benign	Het
Nebl	T	A	2: 17,397,834 (GRCm39)	Q487H	possibly damaging	Het
Nlrp2	T	A	7: 5,325,417 (GRCm39)	N14Y	possibly damaging	Het
Or14a258	T	C	7: 86,035,514 (GRCm39)	Y118C	probably damaging	Het
Or1j11	T	A	2: 36,312,299 (GRCm39)	D296E	probably benign	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5ak22	T	A	2: 85,230,305 (GRCm39)	S191C	probably damaging	Het
Or8k40	T	C	2: 86,584,231 (GRCm39)	M284V	probably benign	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Paxip1	C	T	5: 27,949,183 (GRCm39)		probably benign	Het
Pclo	A	G	5: 14,729,811 (GRCm39)		probably benign	Het
Pld2	T	G	11: 70,445,174 (GRCm39)	N591K	probably benign	Het
Plekha7	A	G	7: 115,769,939 (GRCm39)	M276T	probably damaging	Het
Prss39	T	A	1: 34,541,281 (GRCm39)		probably benign	Het
Prtg	A	G	9: 72,716,998 (GRCm39)	Y113C	probably damaging	Het
Rab38	T	A	7: 88,099,749 (GRCm39)	I88N	probably damaging	Het
Rbfox2	A	G	15: 76,976,057 (GRCm39)		probably benign	Het
Samd5	A	G	10: 9,550,683 (GRCm39)	W9R	probably damaging	Het
Sec14l1	A	T	11: 117,047,233 (GRCm39)	K637I	possibly damaging	Het
Sh2b1	A	T	7: 126,070,620 (GRCm39)	D360E	possibly damaging	Het
Sh3bp4	A	G	1: 89,073,036 (GRCm39)	N628S	possibly damaging	Het
Sim1	A	T	10: 50,784,057 (GRCm39)	I104F	probably damaging	Het
Smcp	T	A	3: 92,491,827 (GRCm39)	T7S	unknown	Het
Sp4	A	G	12: 118,264,551 (GRCm39)		probably benign	Het
Tectb	G	T	19: 55,170,393 (GRCm39)	K81N	probably damaging	Het
Thbs4	G	T	13: 92,890,918 (GRCm39)	H850N	probably benign	Het
Tiam1	T	C	16: 89,694,642 (GRCm39)	M272V	probably benign	Het
Trav13-3	T	A	14: 53,967,233 (GRCm39)		noncoding transcript	Het
Ubap2l	A	T	3: 89,928,680 (GRCm39)	S478T	possibly damaging	Het
Vmn2r85	A	G	10: 130,255,054 (GRCm39)		probably benign	Het

Other mutations in Dcdc2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Dcdc2a	APN	13	25,303,312 (GRCm39)	missense	probably benign	0.00
IGL01314:Dcdc2a	APN	13	25,286,587 (GRCm39)	missense	probably damaging	1.00
IGL02171:Dcdc2a	APN	13	25,240,417 (GRCm39)	missense	probably damaging	1.00
IGL02490:Dcdc2a	APN	13	25,291,635 (GRCm39)	missense	probably damaging	1.00
R0128:Dcdc2a	UTSW	13	25,371,655 (GRCm39)	splice site	probably benign
R0366:Dcdc2a	UTSW	13	25,240,417 (GRCm39)	missense	probably damaging	1.00
R0507:Dcdc2a	UTSW	13	25,286,572 (GRCm39)	missense	probably damaging	0.99
R0514:Dcdc2a	UTSW	13	25,303,369 (GRCm39)	missense	probably benign	0.04
R1055:Dcdc2a	UTSW	13	25,286,593 (GRCm39)	missense	probably damaging	0.99
R1170:Dcdc2a	UTSW	13	25,240,290 (GRCm39)	missense	probably benign	0.34
R1301:Dcdc2a	UTSW	13	25,286,569 (GRCm39)	missense	possibly damaging	0.93
R1514:Dcdc2a	UTSW	13	25,245,237 (GRCm39)	missense	probably benign	0.05
R1842:Dcdc2a	UTSW	13	25,291,585 (GRCm39)	missense	probably damaging	1.00
R2060:Dcdc2a	UTSW	13	25,291,693 (GRCm39)	missense	possibly damaging	0.59
R2121:Dcdc2a	UTSW	13	25,303,268 (GRCm39)	missense	possibly damaging	0.93
R2122:Dcdc2a	UTSW	13	25,303,268 (GRCm39)	missense	possibly damaging	0.93
R2900:Dcdc2a	UTSW	13	25,304,481 (GRCm39)	missense	probably benign	0.01
R3153:Dcdc2a	UTSW	13	25,286,340 (GRCm39)	missense	probably benign	0.03
R3154:Dcdc2a	UTSW	13	25,286,340 (GRCm39)	missense	probably benign	0.03
R4353:Dcdc2a	UTSW	13	25,240,474 (GRCm39)	missense	probably damaging	1.00
R4608:Dcdc2a	UTSW	13	25,245,223 (GRCm39)	nonsense	probably null
R5099:Dcdc2a	UTSW	13	25,291,681 (GRCm39)	missense	probably benign	0.12
R5128:Dcdc2a	UTSW	13	25,286,512 (GRCm39)	missense	probably damaging	1.00
R5181:Dcdc2a	UTSW	13	25,386,347 (GRCm39)	missense	possibly damaging	0.94
R5271:Dcdc2a	UTSW	13	25,371,671 (GRCm39)	missense	probably benign	0.35
R5869:Dcdc2a	UTSW	13	25,291,713 (GRCm39)	missense	probably benign	0.05
R6058:Dcdc2a	UTSW	13	25,240,354 (GRCm39)	missense	possibly damaging	0.82
R6146:Dcdc2a	UTSW	13	25,389,440 (GRCm39)	missense	probably benign	0.35
R6892:Dcdc2a	UTSW	13	25,240,443 (GRCm39)	missense	probably damaging	1.00
R6956:Dcdc2a	UTSW	13	25,303,349 (GRCm39)	missense	probably benign	0.02
R6972:Dcdc2a	UTSW	13	25,304,372 (GRCm39)	intron	probably benign
R6973:Dcdc2a	UTSW	13	25,304,372 (GRCm39)	intron	probably benign
R7097:Dcdc2a	UTSW	13	25,291,681 (GRCm39)	missense	probably benign	0.12
R7247:Dcdc2a	UTSW	13	25,286,374 (GRCm39)	missense	probably benign	0.00
R7390:Dcdc2a	UTSW	13	25,291,600 (GRCm39)	missense	possibly damaging	0.89
R7570:Dcdc2a	UTSW	13	25,303,356 (GRCm39)	missense	probably benign
R7636:Dcdc2a	UTSW	13	25,286,605 (GRCm39)	missense	probably damaging	1.00
R7644:Dcdc2a	UTSW	13	25,291,674 (GRCm39)	missense	probably damaging	1.00
R7898:Dcdc2a	UTSW	13	25,286,361 (GRCm39)	missense	possibly damaging	0.67
R8070:Dcdc2a	UTSW	13	25,386,180 (GRCm39)	missense	probably benign	0.00
R8183:Dcdc2a	UTSW	13	25,291,633 (GRCm39)	missense	possibly damaging	0.95
R8829:Dcdc2a	UTSW	13	25,294,051 (GRCm39)	nonsense	probably null
R8865:Dcdc2a	UTSW	13	25,386,266 (GRCm39)	missense	probably benign	0.00
R8867:Dcdc2a	UTSW	13	25,386,266 (GRCm39)	missense	probably benign	0.00
R8868:Dcdc2a	UTSW	13	25,386,266 (GRCm39)	missense	probably benign	0.00
R9290:Dcdc2a	UTSW	13	25,386,313 (GRCm39)	missense	probably benign
R9694:Dcdc2a	UTSW	13	25,286,340 (GRCm39)	missense	probably benign	0.27
R9760:Dcdc2a	UTSW	13	25,389,443 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAAGCTAGAGCACGCTGATTTTCC -3'
(R):5'- CCATCACTGCTGGGTTCTGTGAATG -3'

Sequencing Primer
(F):5'- TGCATAGCAATCTCCAGGG -3'
(R):5'- TGTTTAGAGGCAGGAAGATTACC -3'

Posted On

2013-06-12