Mutagenetix > Incidental Mutation

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

Essential gene?

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

Stock #

R6146 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25239987-25394689 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25389440 bp (GRCm39)

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: 8,946,587 (GRCm39)	E29G	probably benign	Het
Abi3bp	T	C	16: 56,491,628 (GRCm39)	S552P	probably damaging	Het
Adgrg7	A	G	16: 56,593,829 (GRCm39)	I129T	probably benign	Het
Adhfe1	A	G	1: 9,623,943 (GRCm39)	N148S	probably damaging	Het
AI182371	A	G	2: 34,987,983 (GRCm39)	Y77H	probably damaging	Het
Aldh5a1	C	T	13: 25,103,661 (GRCm39)		probably null	Het
Ankrd2	A	G	19: 42,028,544 (GRCm39)	T67A	possibly damaging	Het
Anln	A	T	9: 22,287,604 (GRCm39)	C232*	probably null	Het
Cchcr1	A	G	17: 35,839,475 (GRCm39)	D587G	possibly damaging	Het
Cgn	G	T	3: 94,674,435 (GRCm39)	Q901K	possibly damaging	Het
Cip2a	A	T	16: 48,814,692 (GRCm39)	K18*	probably null	Het
Cluh	G	T	11: 74,558,054 (GRCm39)		probably null	Het
Crebbp	G	A	16: 3,902,487 (GRCm39)	Q2213*	probably null	Het
Cyp2d22	T	A	15: 82,258,036 (GRCm39)		probably null	Het
Depdc5	A	G	5: 33,126,075 (GRCm39)	E569G	probably benign	Het
Dnah5	T	C	15: 28,459,331 (GRCm39)	F4517L	probably benign	Het
Doc2b	T	C	11: 75,664,421 (GRCm39)	K317E	probably damaging	Het
Dysf	T	A	6: 84,180,181 (GRCm39)	D1951E	probably damaging	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
F2rl2	A	C	13: 95,837,149 (GRCm39)	I65L	probably benign	Het
Fbxw17	A	G	13: 50,586,548 (GRCm39)	K417E	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fxr2	A	G	11: 69,532,165 (GRCm39)	M96V	possibly damaging	Het
Kcnj10	C	A	1: 172,196,892 (GRCm39)	Y135*	probably null	Het
Kidins220	G	A	12: 25,102,812 (GRCm39)	R1238Q	probably damaging	Het
Krt31	T	C	11: 99,939,056 (GRCm39)	N255S	probably benign	Het
Lrp2	T	C	2: 69,341,345 (GRCm39)	D945G	probably benign	Het
Lrrc66	T	C	5: 73,765,432 (GRCm39)	D537G	probably benign	Het
Ltbp4	T	A	7: 27,019,149 (GRCm39)	I992F	probably damaging	Het
Lzts1	A	G	8: 69,593,524 (GRCm39)	S28P	probably benign	Het
Mrc2	C	A	11: 105,216,470 (GRCm39)	N86K	probably damaging	Het
Mroh6	C	A	15: 75,758,486 (GRCm39)	A302S	possibly damaging	Het
Muc16	T	A	9: 18,409,093 (GRCm39)	N198Y	probably damaging	Het
Myo9a	T	C	9: 59,778,512 (GRCm39)	S1423P	probably benign	Het
Or10ag58	A	T	2: 87,265,662 (GRCm39)	D277V	possibly damaging	Het
Or2b28	A	T	13: 21,531,164 (GRCm39)	Y22F	possibly damaging	Het
Or5h22	A	G	16: 58,895,077 (GRCm39)	V122A	probably benign	Het
Or5p56	G	T	7: 107,589,620 (GRCm39)	G16V	probably damaging	Het
Or5w17	A	C	2: 87,583,602 (GRCm39)	L245R	probably damaging	Het
Or9g4	T	A	2: 85,504,938 (GRCm39)	K186*	probably null	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Polg	T	C	7: 79,100,260 (GRCm39)	M1184V	probably benign	Het
Prl8a8	T	C	13: 27,694,463 (GRCm39)	Y108C	probably damaging	Het
Proser1	T	A	3: 53,385,540 (GRCm39)	I474N	probably damaging	Het
Rab44	A	G	17: 29,354,391 (GRCm39)		probably benign	Het
Rbp1	C	A	9: 98,307,669 (GRCm39)	D79E	possibly damaging	Het
Rnf213	T	C	11: 119,326,825 (GRCm39)	V1605A	probably benign	Het
Rps24	A	T	14: 24,540,803 (GRCm39)		probably null	Het
Setd5	T	C	6: 113,098,773 (GRCm39)		probably null	Het
Skic3	A	G	13: 76,333,359 (GRCm39)	E1536G	probably damaging	Het
Slc38a3	T	C	9: 107,532,228 (GRCm39)	I435V	probably benign	Het
Slco1a5	T	A	6: 142,180,534 (GRCm39)	M623L	probably benign	Het
Spaca9	G	A	2: 28,583,793 (GRCm39)	R64W	probably damaging	Het
Spn	A	G	7: 126,735,479 (GRCm39)	S343P	possibly damaging	Het
Sptan1	A	G	2: 29,894,535 (GRCm39)	T1168A	probably benign	Het
Sptbn4	A	T	7: 27,064,012 (GRCm39)	L2138*	probably null	Het
Tg	T	A	15: 66,545,216 (GRCm39)		probably null	Het
Tigd5	T	A	15: 75,782,094 (GRCm39)	L152Q	probably damaging	Het
Tmem163	C	T	1: 127,447,126 (GRCm39)	V170I	probably benign	Het
Tpr	T	C	1: 150,298,913 (GRCm39)	C1068R	possibly damaging	Het
Ubr1	A	T	2: 120,723,690 (GRCm39)	Y1290N	probably damaging	Het
Vmn1r184	T	A	7: 25,966,817 (GRCm39)	F188I	probably benign	Het
Vmn2r100	G	A	17: 19,742,522 (GRCm39)	V299I	probably benign	Het
Vmn2r91	T	G	17: 18,356,518 (GRCm39)	H728Q	probably benign	Het
Vta1	T	C	10: 14,581,096 (GRCm39)	Y37C	probably damaging	Het
Wbp2	C	A	11: 115,974,728 (GRCm39)	M35I	probably benign	Het
Zcchc9	G	A	13: 91,953,986 (GRCm39)	Q90*	probably null	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
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'- TGGTCACGTGAGGTATCAAC -3'
(R):5'- AATGCAATAGGTAGGGCCTC -3'

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

Posted On

2017-10-10