Mutagenetix > Incidental Mutations

Incidental Mutation 'R3153:Dcdc2a'

264488

Institutional Source

Beutler Lab

Gene Symbol

Dcdc2a

Ensembl Gene

ENSMUSG00000035910

Gene Name

doublecortin domain containing 2a

Synonyms

RU2, Dcdc2

MMRRC Submission

040604-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.239) question?

Stock #

R3153 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25056004-25210706 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 25102357 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 125 (I125L)

Ref Sequence

ENSEMBL: ENSMUSP00000047641 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000036932
AA Change: I125L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000047641
Gene: ENSMUSG00000035910
AA Change: I125L

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: I125L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000063650
Gene: ENSMUSG00000035910
AA Change: I125L

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	C	2: 152,440,824	N200H	probably damaging	Het
Abca17	T	A	17: 24,328,746	D218V	probably damaging	Het
Abhd12	A	G	2: 150,834,355	F361L	probably benign	Het
Abr	A	T	11: 76,486,469	I59N	probably damaging	Het
Agbl1	A	G	7: 76,720,196	E681G	probably damaging	Het
B3gnt4	G	T	5: 123,510,653	R27L	probably benign	Het
Cct8l1	A	C	5: 25,517,139	E284A	probably damaging	Het
Chd7	T	A	4: 8,855,174	N2134K	probably benign	Het
Chrna3	C	T	9: 55,016,050	C158Y	probably damaging	Het
Cndp2	C	A	18: 84,668,597	M433I	probably benign	Het
Cnnm3	T	A	1: 36,521,222	S608T	probably damaging	Het
Cnot1	T	C	8: 95,744,278	E1314G	possibly damaging	Het
Col20a1	C	T	2: 181,008,593	P1074L	probably damaging	Het
Coq6	G	A	12: 84,371,535	V298M	probably damaging	Het
Cpt1a	A	G	19: 3,356,430	Y132C	probably damaging	Het
Eps8l1	A	T	7: 4,471,799	I321F	probably damaging	Het
Fancd2	A	G	6: 113,593,269	S1394G	possibly damaging	Het
Fcrl5	T	C	3: 87,443,680	F166L	probably benign	Het
Gatc	T	C	5: 115,335,487	E131G	probably benign	Het
Gpld1	T	C	13: 24,943,620	S2P	unknown	Het
Gprc5b	G	A	7: 118,976,547	P385L	probably damaging	Het
Gsc2	G	A	16: 17,914,500	R137W	probably damaging	Het
Hsd3b1	T	C	3: 98,852,664	D337G	probably damaging	Het
Ireb2	T	C	9: 54,885,946		probably null	Het
Kank1	T	A	19: 25,410,688	V575E	possibly damaging	Het
Kcnmb1	A	T	11: 33,966,339	D95V	probably damaging	Het
L3mbtl4	T	A	17: 68,457,248	Y125*	probably null	Het
Lce1h	C	T	3: 92,763,675	G57R	unknown	Het
Lgalsl	A	G	11: 20,826,487	F135S	probably damaging	Het
Lrba	A	G	3: 86,285,219	M147V	probably damaging	Het
Mdm2	T	C	10: 117,709,713	E23G	possibly damaging	Het
Mthfd1	C	A	12: 76,311,963	Q67K	probably benign	Het
Mtus2	T	C	5: 148,083,060	L755P	probably damaging	Het
Olfr1026	T	C	2: 85,923,730	V154A	probably benign	Het
Orc3	A	G	4: 34,575,124	F587L	probably damaging	Het
Pcdhb7	C	T	18: 37,343,073	P421S	probably damaging	Het
Pgk2	T	A	17: 40,208,243	D98V	probably damaging	Het
Pkd1l1	A	C	11: 8,867,207	S1364A	probably benign	Het
Rin3	A	C	12: 102,368,541	E157A	unknown	Het
Rnf126	A	T	10: 79,761,631	I149N	probably damaging	Het
Rph3a	T	C	5: 120,973,377	T47A	probably damaging	Het
Sap18	T	C	14: 57,801,945	M68T	probably benign	Het
Sfrp2	A	G	3: 83,773,270	T246A	probably benign	Het
Slc18a3	A	G	14: 32,463,271	V385A	probably benign	Het
Slitrk3	C	T	3: 73,048,982	W819*	probably null	Het
Smap1	A	T	1: 23,853,549	D111E	probably damaging	Het
Spesp1	G	A	9: 62,282,094		probably benign	Het
Styk1	A	T	6: 131,310,012	Y84*	probably null	Het
Sv2a	T	A	3: 96,185,258	D91E	possibly damaging	Het
Tbc1d5	A	G	17: 50,968,236	I77T	probably damaging	Het
Trim10	T	A	17: 36,871,688	C149S	probably damaging	Het
Zbtb38	T	C	9: 96,688,249	K261E	probably benign	Het
Zfp202	T	C	9: 40,208,438	L179P	probably benign	Het
Zkscan5	T	A	5: 145,212,627	S251R	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGCAGTCAGGCCTTGAAGAG -3'
(R):5'- TGCAATCAAGCTGTGAGGG -3'

Sequencing Primer
(F):5'- TTAGTACATCCGGACCATGGTCAAG -3'
(R):5'- CAATCAAGCTGTGAGGGGAAAAG -3'

Posted On

2015-02-05