Mutagenetix > Incidental Mutation

Incidental Mutation 'R0366:Dcdc2a'

36433

Institutional Source

Beutler Lab

Gene Symbol

Dcdc2a

Ensembl Gene

ENSMUSG00000035910

Gene Name

doublecortin domain containing 2a

Synonyms

RU2, Dcdc2

MMRRC Submission

038572-MU

Accession Numbers

Essential gene?

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

Stock #

R0366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25239987-25394689 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25240417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 55 (V55E)

Ref Sequence

ENSEMBL: ENSMUSP00000047641 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000036932
AA Change: V55E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000047641
Gene: ENSMUSG00000035910
AA Change: V55E

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 damaging
Transcript: ENSMUST00000069614
AA Change: V55E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000063650
Gene: ENSMUSG00000035910
AA Change: V55E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

99% (68/69)

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
Abcc10	G	T	17: 46,635,724 (GRCm39)	S93*	probably null	Het
Ackr2	T	C	9: 121,738,426 (GRCm39)	L267P	probably damaging	Het
Adgre4	T	A	17: 56,099,001 (GRCm39)	L169*	probably null	Het
Ankrd12	T	A	17: 66,291,501 (GRCm39)	S1311C	possibly damaging	Het
Arid2	T	A	15: 96,259,601 (GRCm39)		probably benign	Het
Atp9b	A	T	18: 80,805,317 (GRCm39)	V747E	probably damaging	Het
Best1	T	C	19: 9,969,417 (GRCm39)		probably null	Het
Brwd1	C	A	16: 95,839,164 (GRCm39)	E836*	probably null	Het
Cachd1	A	G	4: 100,851,934 (GRCm39)	S1177G	possibly damaging	Het
Cacna1e	C	T	1: 154,291,884 (GRCm39)	E1766K	probably benign	Het
Cckar	A	G	5: 53,857,507 (GRCm39)	I301T	probably benign	Het
Cdc27	T	G	11: 104,396,474 (GRCm39)	T816P	probably damaging	Het
Cep162	T	G	9: 87,102,537 (GRCm39)	Q708H	probably damaging	Het
Cep250	C	A	2: 155,830,321 (GRCm39)	D1301E	probably benign	Het
D430041D05Rik	G	A	2: 104,085,685 (GRCm39)	H955Y	probably damaging	Het
Efcab12	A	G	6: 115,800,209 (GRCm39)		probably benign	Het
Ep400	A	G	5: 110,849,537 (GRCm39)	V1428A	unknown	Het
Erbb3	T	C	10: 128,408,439 (GRCm39)	E825G	possibly damaging	Het
Evl	A	T	12: 108,652,307 (GRCm39)		probably null	Het
Fuca2	G	A	10: 13,381,507 (GRCm39)	R140H	probably benign	Het
Gm5581	T	C	6: 131,143,410 (GRCm39)		noncoding transcript	Het
Gm7052	T	C	17: 22,259,498 (GRCm39)		probably benign	Het
Gpd1	T	G	15: 99,617,151 (GRCm39)	I119S	probably damaging	Het
Gzmc	A	T	14: 56,470,193 (GRCm39)	Y101*	probably null	Het
Hmcn2	G	T	2: 31,314,218 (GRCm39)	A3588S	possibly damaging	Het
Ikbkb	A	G	8: 23,185,276 (GRCm39)		probably benign	Het
Itgax	G	T	7: 127,748,261 (GRCm39)		probably benign	Het
Kif24	C	A	4: 41,428,717 (GRCm39)	S81I	possibly damaging	Het
Lct	G	A	1: 128,214,199 (GRCm39)	P1858S	probably benign	Het
Map2k1	C	A	9: 64,100,984 (GRCm39)		probably null	Het
Mdga1	A	G	17: 30,076,682 (GRCm39)	V30A	possibly damaging	Het
Meiosin	T	A	7: 18,840,964 (GRCm39)	I57F	probably damaging	Het
Mtcl1	G	A	17: 66,645,124 (GRCm39)	P1441L	probably damaging	Het
N4bp2	T	A	5: 65,963,739 (GRCm39)	F596Y	possibly damaging	Het
Notch4	A	T	17: 34,800,473 (GRCm39)		probably benign	Het
Or2l5	A	G	16: 19,333,598 (GRCm39)	S263P	probably benign	Het
Or4c12	A	C	2: 89,774,162 (GRCm39)	V99G	possibly damaging	Het
Or6c1	A	G	10: 129,517,840 (GRCm39)	M256T	possibly damaging	Het
Or8b44	T	A	9: 38,410,450 (GRCm39)	C162S	possibly damaging	Het
Or8k25	A	G	2: 86,244,369 (GRCm39)	V9A	possibly damaging	Het
Pbld2	A	G	10: 62,889,736 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,808,460 (GRCm39)	Y505C	probably damaging	Het
Plcb2	A	G	2: 118,554,928 (GRCm39)	F58L	probably benign	Het
Plcd1	T	A	9: 118,910,204 (GRCm39)	I72F	probably damaging	Het
Ppp5c	A	T	7: 16,756,508 (GRCm39)	Y63*	probably null	Het
Prdm4	T	C	10: 85,743,868 (GRCm39)	D129G	probably damaging	Het
Prkcq	C	A	2: 11,251,649 (GRCm39)		probably benign	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Rab7b	T	A	1: 131,626,242 (GRCm39)	V90D	probably damaging	Het
Ripk3	T	C	14: 56,024,292 (GRCm39)	T193A	probably damaging	Het
Rnf167	C	T	11: 70,540,143 (GRCm39)	R88*	probably null	Het
Robo1	A	G	16: 72,539,133 (GRCm39)	T59A	possibly damaging	Het
Scd2	G	A	19: 44,289,685 (GRCm39)	V227I	probably benign	Het
Scg3	T	A	9: 75,582,620 (GRCm39)		probably benign	Het
Sec31a	A	T	5: 100,530,625 (GRCm39)	L677H	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Setd7	T	C	3: 51,457,741 (GRCm39)	T29A	probably benign	Het
Shoc1	A	C	4: 59,099,410 (GRCm39)	M94R	probably benign	Het
Slc4a5	A	G	6: 83,272,854 (GRCm39)	Y942C	probably benign	Het
Slit1	T	A	19: 41,599,470 (GRCm39)	Y1027F	probably damaging	Het
Sptan1	G	A	2: 29,882,764 (GRCm39)		probably null	Het
Tdrd12	T	C	7: 35,208,227 (GRCm39)	Q249R	probably benign	Het
Tmem171	T	A	13: 98,828,736 (GRCm39)	D138V	possibly damaging	Het
Ttll10	G	A	4: 156,119,612 (GRCm39)	R596W	probably damaging	Het
Usp53	G	T	3: 122,742,850 (GRCm39)	N695K	probably damaging	Het
Vmn2r25	A	T	6: 123,800,581 (GRCm39)	L587*	probably null	Het
Zglp1	C	T	9: 20,974,675 (GRCm39)	C171Y	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
R0130:Dcdc2a	UTSW	13	25,371,655 (GRCm39)	splice site	probably benign
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'- CTTGAATTGCTACCTGCTAGGGCTG -3'
(R):5'- GAGGTTGCCTCCTATCAACCACAC -3'

Sequencing Primer
(F):5'- TCCACGAGCTGCTGTTG -3'
(R):5'- TATCAACCACACCCCACAGAG -3'

Posted On

2013-05-09