Mutagenetix > Incidental Mutation

Incidental Mutation 'R7247:Dcdc2a'

563631

Institutional Source

Beutler Lab

Gene Symbol

Dcdc2a

Ensembl Gene

ENSMUSG00000035910

Gene Name

doublecortin domain containing 2a

Synonyms

RU2, Dcdc2

MMRRC Submission

045310-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.317) question?

Stock #

R7247 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25239987-25394689 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25286374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 136 (H136R)

Ref Sequence

ENSEMBL: ENSMUSP00000063650 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000036932
AA Change: H136R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000047641
Gene: ENSMUSG00000035910
AA Change: H136R

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: H136R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000063650
Gene: ENSMUSG00000035910
AA Change: H136R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,240,732 (GRCm39)	E865G	probably benign	Het
Actrt2	A	C	4: 154,751,880 (GRCm39)	D85E	probably benign	Het
Ankrd55	A	G	13: 112,472,787 (GRCm39)	E153G	probably damaging	Het
Arfgef3	T	A	10: 18,501,139 (GRCm39)	H1037L	probably benign	Het
Camk2a	A	G	18: 61,076,277 (GRCm39)	Y85C	unknown	Het
Caprin1	A	T	2: 103,609,819 (GRCm39)	V153E	possibly damaging	Het
Caskin2	G	A	11: 115,692,722 (GRCm39)	P688S	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Ccdc116	T	C	16: 16,957,555 (GRCm39)	T535A	possibly damaging	Het
Cdh9	G	A	15: 16,778,341 (GRCm39)	R52H	probably damaging	Het
Cdk5rap2	A	G	4: 70,255,666 (GRCm39)	L406S	probably damaging	Het
Cep350	A	G	1: 155,786,499 (GRCm39)	M1449T	probably damaging	Het
Chst8	T	A	7: 34,375,361 (GRCm39)	K159N	probably damaging	Het
Dip2a	C	T	10: 76,108,366 (GRCm39)		probably null	Het
Dock2	G	A	11: 34,605,340 (GRCm39)	R260*	probably null	Het
Dscam	A	G	16: 96,622,008 (GRCm39)	V481A	probably damaging	Het
E130308A19Rik	A	G	4: 59,690,502 (GRCm39)	D112G	probably damaging	Het
Ezh2	T	C	6: 47,510,708 (GRCm39)	K634E	probably damaging	Het
Fcgr2b	A	G	1: 170,793,269 (GRCm39)		probably null	Het
Fgfrl1	T	C	5: 108,851,365 (GRCm39)	V94A	possibly damaging	Het
Gpr156	C	A	16: 37,768,103 (GRCm39)	N6K	probably damaging	Het
Gsdmc2	A	T	15: 63,705,183 (GRCm39)	F177I	probably benign	Het
Igkv4-54	T	A	6: 69,608,842 (GRCm39)	S26C	probably damaging	Het
Iglc3	T	C	16: 18,884,191 (GRCm39)	H80R		Het
Immp1l	G	A	2: 105,767,401 (GRCm39)	G87S	probably damaging	Het
Itgav	A	T	2: 83,555,179 (GRCm39)	D34V	probably damaging	Het
Lrp1b	G	A	2: 41,159,224 (GRCm39)	T1686I		Het
Ltn1	T	C	16: 87,206,275 (GRCm39)	D935G	probably benign	Het
Map3k8	T	C	18: 4,334,036 (GRCm39)	D352G	probably damaging	Het
Map3k9	T	C	12: 81,772,604 (GRCm39)	K610E	possibly damaging	Het
Marchf4	G	T	1: 72,491,637 (GRCm39)	Y211*	probably null	Het
Marf1	A	T	16: 13,944,957 (GRCm39)	L1304Q	probably damaging	Het
Matcap1	A	T	8: 106,011,331 (GRCm39)	Y268N	probably benign	Het
Mecom	A	G	3: 30,194,505 (GRCm39)	V5A	unknown	Het
Mep1a	A	T	17: 43,785,995 (GRCm39)	V711D	possibly damaging	Het
Naca	T	A	10: 127,878,467 (GRCm39)	D1166E	unknown	Het
Neb	G	T	2: 52,148,753 (GRCm39)	P2598Q	probably damaging	Het
Notch4	A	T	17: 34,791,491 (GRCm39)	E546V	probably damaging	Het
Nudt18	A	G	14: 70,815,422 (GRCm39)	T12A	unknown	Het
Nvl	A	C	1: 180,939,851 (GRCm39)		probably null	Het
Obscn	G	T	11: 58,994,144 (GRCm39)	C1579*	probably null	Het
Or4b13	G	A	2: 90,083,165 (GRCm39)	P56S	probably damaging	Het
Or51e2	T	C	7: 102,391,551 (GRCm39)	I220V	probably damaging	Het
Or6c5b	T	C	10: 129,246,051 (GRCm39)	V272A	probably damaging	Het
Or7g33	A	T	9: 19,448,629 (GRCm39)	I199K	probably benign	Het
Or8g19	T	A	9: 39,056,153 (GRCm39)	Y252*	probably null	Het
Oxa1l	A	T	14: 54,598,312 (GRCm39)	M1L	probably benign	Het
Paqr9	A	G	9: 95,442,246 (GRCm39)	T79A	possibly damaging	Het
Plec	A	T	15: 76,061,543 (GRCm39)	V2798E	probably damaging	Het
Potefam3f	A	G	8: 20,479,022 (GRCm39)	N10S		Het
Ptpn4	A	T	1: 119,617,764 (GRCm39)	*557R	probably null	Het
Ptprt	T	C	2: 161,375,443 (GRCm39)	E1379G	probably benign	Het
Rad18	G	T	6: 112,642,286 (GRCm39)	T327K	possibly damaging	Het
Rps2	T	A	17: 24,939,554 (GRCm39)	I75N	possibly damaging	Het
Scgb2b2	A	T	7: 31,003,021 (GRCm39)	R39W	probably damaging	Het
Sh3d21	A	G	4: 126,045,908 (GRCm39)	F307S	probably benign	Het
Snap91	A	G	9: 86,674,669 (GRCm39)	V507A	unknown	Het
Srgap1	T	A	10: 121,705,695 (GRCm39)	Y243F	probably damaging	Het
Stim1	T	A	7: 102,070,739 (GRCm39)		probably null	Het
Top2b	T	C	14: 16,416,962 (GRCm38)	V1161A	probably benign	Het
Tpcn1	T	C	5: 120,723,315 (GRCm39)	D16G	possibly damaging	Het
Trank1	A	T	9: 111,196,580 (GRCm39)	I1535F	probably damaging	Het
Txnrd2	T	C	16: 18,274,822 (GRCm39)	F278L	probably damaging	Het
Ufl1	A	T	4: 25,254,637 (GRCm39)	D579E	probably damaging	Het
Vps45	T	C	3: 95,948,717 (GRCm39)	N346S	probably benign	Het
Vps51	T	A	19: 6,127,419 (GRCm39)		probably benign	Het
Zfp536	T	C	7: 37,268,631 (GRCm39)	N262D	probably benign	Het
Zmynd10	A	G	9: 107,425,976 (GRCm39)	I103M	possibly damaging	Het
Zswim1	C	T	2: 164,667,719 (GRCm39)	H324Y	possibly damaging	Het
Zxdc	T	C	6: 90,361,155 (GRCm39)	W507R	unknown	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
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
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'- TGCAGTCAGGCCTTGAAGAG -3'
(R):5'- TGTGACCATTTGTAGTACATGATCC -3'

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

Posted On

2019-06-26