Mutagenetix > Incidental Mutations

Incidental Mutation 'R2369:Dclk3'

246435

Institutional Source

Beutler Lab

Gene Symbol

Dclk3

Ensembl Gene

ENSMUSG00000032500

Gene Name

doublecortin-like kinase 3

Synonyms

Click-I, -II related, Dcamkl3

MMRRC Submission

040349-MU

Accession Numbers

Genbank: NM_172928; MGI: 3039580

Is this an essential gene?

Possibly non essential (E-score: 0.366) question?

Stock #

R2369 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111439081-111489118 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111488542 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 749 (R749G)

Ref Sequence

ENSEMBL: ENSMUSP00000107510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111879]

Predicted Effect

probably benign
Transcript: ENSMUST00000111879
AA Change: R749G

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107510
Gene: ENSMUSG00000032500
AA Change: R749G

Domain	Start	End	E-Value	Type
low complexity region	2	29	N/A	INTRINSIC
Pfam:DCX	115	177	2.9e-17	PFAM
low complexity region	200	218	N/A	INTRINSIC
low complexity region	267	277	N/A	INTRINSIC
low complexity region	479	496	N/A	INTRINSIC
S_TKc	514	771	1.63e-110	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the protein kinase superfamily and the doublecortin family. Differently from the other two closely related family members (DCLK1 and DCLK2), the protein encoded by this gene contains only one N-terminal doublecortin domain and is unable to bind microtubules and to regulate microtubule polymerization. The protein contains a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmoduline-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. [provided by RefSeq, Sep 2010]

Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	A	T	1: 57,382,791	N109Y	possibly damaging	Het
9230112D13Rik	A	T	14: 34,511,956	I126N	unknown	Het
A2ml1	C	T	6: 128,580,386	A115T	probably benign	Het
Ahcyl1	T	C	3: 107,670,240	D288G	probably damaging	Het
Atxn7l1	T	C	12: 33,358,850		probably null	Het
Ccdc33	A	T	9: 58,076,630	S220T	probably benign	Het
Celsr3	G	A	9: 108,842,552	R2450H	probably benign	Het
Cubn	T	A	2: 13,491,217	K69N	probably damaging	Het
Dip2a	T	C	10: 76,313,196	N207S	probably benign	Het
Dok6	G	C	18: 89,414,864	R274G	probably null	Het
Esco2	G	A	14: 65,821,740	A496V	probably damaging	Het
Gbp5	A	T	3: 142,500,719	M55L	possibly damaging	Het
Grik5	T	C	7: 25,058,537	Y373C	probably damaging	Het
Hbs1l	T	A	10: 21,307,745	S128R	probably benign	Het
Ing3	A	G	6: 21,950,091	M28V	probably damaging	Het
Lmtk3	A	T	7: 45,795,088		probably benign	Het
Met	G	A	6: 17,531,528	V602I	probably benign	Het
Ndufaf7	C	A	17: 78,945,032	A290E	probably damaging	Het
Notch4	A	G	17: 34,585,950	Q1593R	probably benign	Het
Npl	A	G	1: 153,518,877		probably null	Het
Paqr6	T	C	3: 88,365,953	L84P	probably damaging	Het
Pros1	A	G	16: 62,928,069	Y635C	probably damaging	Het
Rad1	C	A	15: 10,486,659	N47K	probably damaging	Het
Rassf4	A	G	6: 116,638,297	F304L	probably damaging	Het
Tmem232	A	T	17: 65,402,997	V432E	probably damaging	Het
Wdr72	A	G	9: 74,210,175	K723R	possibly damaging	Het
Xpo7	G	A	14: 70,687,731	R493*	probably null	Het
Zfp11	G	A	5: 129,656,465	P644L	probably benign	Het

Other mutations in Dclk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02027:Dclk3	APN	9	111467843	nonsense	probably null
IGL02125:Dclk3	APN	9	111469107	missense	probably damaging	1.00
IGL02547:Dclk3	APN	9	111469023	missense	probably damaging	1.00
IGL03393:Dclk3	APN	9	111488673	utr 3 prime	probably benign
IGL02984:Dclk3	UTSW	9	111488575	missense	probably damaging	1.00
R0109:Dclk3	UTSW	9	111467670	missense	possibly damaging	0.93
R0109:Dclk3	UTSW	9	111467670	missense	possibly damaging	0.93
R0238:Dclk3	UTSW	9	111482628	missense	probably damaging	0.99
R0238:Dclk3	UTSW	9	111482628	missense	probably damaging	0.99
R0432:Dclk3	UTSW	9	111484935	missense	probably damaging	1.00
R0440:Dclk3	UTSW	9	111469163	missense	probably damaging	1.00
R0530:Dclk3	UTSW	9	111482721	missense	probably damaging	1.00
R1024:Dclk3	UTSW	9	111469070	missense	possibly damaging	0.95
R1443:Dclk3	UTSW	9	111469020	missense	probably benign	0.01
R1474:Dclk3	UTSW	9	111469236	missense	probably benign	0.43
R1479:Dclk3	UTSW	9	111468546	missense	probably benign
R1482:Dclk3	UTSW	9	111467820	missense	possibly damaging	0.90
R1543:Dclk3	UTSW	9	111468054	missense	probably benign	0.04
R1552:Dclk3	UTSW	9	111488579	missense	probably damaging	1.00
R1559:Dclk3	UTSW	9	111469208	missense	probably damaging	1.00
R2011:Dclk3	UTSW	9	111468354	missense	probably benign	0.00
R4111:Dclk3	UTSW	9	111469080	missense	probably damaging	0.99
R4510:Dclk3	UTSW	9	111467992	missense	probably benign	0.01
R4511:Dclk3	UTSW	9	111467992	missense	probably benign	0.01
R4592:Dclk3	UTSW	9	111467895	missense	probably damaging	1.00
R4604:Dclk3	UTSW	9	111469185	missense	probably damaging	1.00
R4857:Dclk3	UTSW	9	111468648	missense	probably benign
R4932:Dclk3	UTSW	9	111468042	missense	possibly damaging	0.56
R5045:Dclk3	UTSW	9	111467788	missense	probably damaging	0.99
R5233:Dclk3	UTSW	9	111468681	missense	probably benign
R5338:Dclk3	UTSW	9	111469059	missense	possibly damaging	0.95
R5463:Dclk3	UTSW	9	111469260	missense	probably benign	0.26
R6822:Dclk3	UTSW	9	111439337	missense	probably benign	0.03
X0020:Dclk3	UTSW	9	111485075	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCACAGTGGTCATGAGG -3'
(R):5'- ATGGCATCTGCTCTGCAAC -3'

Sequencing Primer
(F):5'- AATAGGTCTGGGAATTTTCTGCC -3'
(R):5'- AACCTTCTTGTGCTGACTCTGGAAG -3'

Posted On

2014-10-30