Mutagenetix > Incidental Mutations

Incidental Mutation 'R1680:Dclk2'

188394

Institutional Source

Beutler Lab

Gene Symbol

Dclk2

Ensembl Gene

ENSMUSG00000028078

Gene Name

doublecortin-like kinase 2

Synonyms

Dcamkl2, Click-II, 6330415M09Rik

MMRRC Submission

039716-MU

Accession Numbers

Genbank: NM_027539; MGI: 1918012

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86786151-86920852 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86805639 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 503 (R503Q)

Ref Sequence

ENSEMBL: ENSMUSP00000141707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029719] [ENSMUST00000191752] [ENSMUST00000192773] [ENSMUST00000193632] [ENSMUST00000194452] [ENSMUST00000195561]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029719
AA Change: R503Q

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029719
Gene: ENSMUSG00000028078
AA Change: R503Q

Domain	Start	End	E-Value	Type
low complexity region	18	43	N/A	INTRINSIC
DCX	67	158	2.29e-42	SMART
DCX	191	279	2.17e-34	SMART
low complexity region	291	317	N/A	INTRINSIC
low complexity region	323	346	N/A	INTRINSIC
S_TKc	393	650	4.96e-101	SMART
low complexity region	718	740	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191752
AA Change: R503Q

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141707
Gene: ENSMUSG00000028078
AA Change: R503Q

Domain	Start	End	E-Value	Type
low complexity region	18	43	N/A	INTRINSIC
DCX	67	158	2.29e-42	SMART
DCX	191	279	2.17e-34	SMART
low complexity region	291	317	N/A	INTRINSIC
low complexity region	323	346	N/A	INTRINSIC
S_TKc	393	646	2.4e-76	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192773
AA Change: R502Q

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000141567
Gene: ENSMUSG00000028078
AA Change: R502Q

Domain	Start	End	E-Value	Type
low complexity region	18	43	N/A	INTRINSIC
DCX	67	158	1.1e-44	SMART
DCX	191	279	9.9e-37	SMART
low complexity region	291	317	N/A	INTRINSIC
low complexity region	323	346	N/A	INTRINSIC
S_TKc	392	641	8.6e-81	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193632
AA Change: R519Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000141866
Gene: ENSMUSG00000028078
AA Change: R519Q

Domain	Start	End	E-Value	Type
low complexity region	18	43	N/A	INTRINSIC
DCX	67	158	1.1e-44	SMART
DCX	191	279	9.9e-37	SMART
low complexity region	291	317	N/A	INTRINSIC
low complexity region	339	362	N/A	INTRINSIC
S_TKc	409	666	2.4e-103	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000194452
AA Change: R502Q

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

SMART Domains

Protein: ENSMUSP00000141816
Gene: ENSMUSG00000028078
AA Change: R502Q

Domain	Start	End	E-Value	Type
low complexity region	18	43	N/A	INTRINSIC
DCX	67	158	2.29e-42	SMART
DCX	191	279	2.17e-34	SMART
low complexity region	291	317	N/A	INTRINSIC
low complexity region	323	346	N/A	INTRINSIC
Pfam:Pkinase_Tyr	392	590	2.2e-31	PFAM
Pfam:Pkinase	392	591	4.7e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195561
AA Change: R502Q

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142267
Gene: ENSMUSG00000028078
AA Change: R502Q

Domain	Start	End	E-Value	Type
low complexity region	18	43	N/A	INTRINSIC
DCX	67	158	2.29e-42	SMART
DCX	191	279	2.17e-34	SMART
low complexity region	291	317	N/A	INTRINSIC
low complexity region	323	346	N/A	INTRINSIC
S_TKc	392	649	4.96e-101	SMART
low complexity region	717	739	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, 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. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. This gene and the DCX gene, another family member, share function in the establishment of hippocampal organization and their absence results in a severe epileptic phenotype and lethality, as described in human patients with lissencephaly. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2010]

Allele List at MGI

All alleles(59) : Targeted, knock-out(1) Gene trapped(58)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,603,528	P187R	probably damaging	Het
Ahnak	T	A	19: 9,009,963	H2870Q	probably benign	Het
Arhgef33	C	T	17: 80,347,651	S95F	probably damaging	Het
Atp1a2	T	A	1: 172,278,954	D827V	probably damaging	Het
Bcat1	T	G	6: 145,039,628	D96A	probably damaging	Het
Birc6	A	T	17: 74,548,746	I184L	probably benign	Het
Ccdc129	C	T	6: 55,968,766	T824I	probably damaging	Het
Clca3b	A	T	3: 144,837,824	L415M	probably damaging	Het
Clstn1	T	C	4: 149,643,726	V617A	probably benign	Het
Col22a1	G	A	15: 71,799,361	A1050V	unknown	Het
Col5a3	C	T	9: 20,784,668		probably null	Het
Csmd3	G	A	15: 47,741,170	T1059I	probably damaging	Het
Dnm3	A	G	1: 162,010,976	V272A	probably benign	Het
Dnmt3a	A	G	12: 3,873,361	Q187R	probably damaging	Het
Dpp9	A	G	17: 56,190,103	Y710H	probably benign	Het
Eef1a2	A	T	2: 181,152,941	M155K	possibly damaging	Het
Entpd8	G	A	2: 25,084,024	C331Y	probably damaging	Het
Erc1	A	C	6: 119,575,761	L1072R	probably damaging	Het
Fam160b2	T	C	14: 70,586,851	Y482C	probably damaging	Het
Gtf3c2	A	G	5: 31,173,868	S155P	probably damaging	Het
Gucy2c	A	G	6: 136,722,493	S617P	probably damaging	Het
Ice1	T	C	13: 70,605,448	R840G	probably benign	Het
Il1rl2	T	C	1: 40,351,793	Y299H	possibly damaging	Het
Ints7	T	G	1: 191,621,162		probably null	Het
Ireb2	C	T	9: 54,881,518	T92I	probably damaging	Het
Kcnj8	A	T	6: 142,570,189	L64*	probably null	Het
Mapk8ip3	A	G	17: 24,901,011	V983A	probably damaging	Het
Mertk	A	G	2: 128,801,636	D985G	probably benign	Het
Mical3	A	T	6: 120,959,643	S1307R	probably benign	Het
Ncaph2	A	G	15: 89,364,622	D222G	probably benign	Het
Nf1	C	A	11: 79,550,998	S295*	probably null	Het
Nlrp12	T	A	7: 3,241,174	D236V	probably damaging	Het
Npnt	A	G	3: 132,906,802	V74A	probably benign	Het
Oasl1	A	G	5: 114,935,944	D304G	probably damaging	Het
Olfr1098	C	T	2: 86,923,161	V124I	probably benign	Het
Olfr556	A	G	7: 102,670,733	D271G	possibly damaging	Het
Olfr834	A	G	9: 18,988,516	H176R	possibly damaging	Het
Olfr936	T	C	9: 39,047,000	I140V	probably benign	Het
Patz1	A	G	11: 3,307,812	K604E	probably damaging	Het
Pcsk6	T	A	7: 66,035,250	V793E	probably benign	Het
Pla2g4d	C	T	2: 120,277,750		probably null	Het
Plxnc1	A	C	10: 94,841,551	L938R	probably benign	Het
Pou4f2	G	T	8: 78,434,831	A381D	probably damaging	Het
Prdm4	A	G	10: 85,899,223	L685P	possibly damaging	Het
Pxn	T	A	5: 115,552,147	V383E	probably damaging	Het
Rbl1	A	G	2: 157,174,783	L632P	probably damaging	Het
Rnf135	T	A	11: 80,196,881	S219T	possibly damaging	Het
Sdk2	T	C	11: 113,791,436	D2039G	possibly damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Slc5a6	A	G	5: 31,042,644	Y131H	probably damaging	Het
Slc9a1	T	C	4: 133,418,080	I492T	probably damaging	Het
Soga3	A	T	10: 29,196,839	Q709L	probably damaging	Het
Spag5	A	G	11: 78,320,616	K993E	probably damaging	Het
Sptbn1	T	G	11: 30,159,371	I75L	possibly damaging	Het
Syngap1	T	C	17: 26,952,579	S46P	possibly damaging	Het
Tfcp2l1	T	A	1: 118,675,605	F458I	probably damaging	Het
Tmem67	A	G	4: 12,087,840	V102A	probably benign	Het
Tomm70a	T	C	16: 57,121,961	S34P	unknown	Het
Txlnb	G	T	10: 17,843,233	G604V	probably benign	Het
Ube2q1	A	G	3: 89,776,176	T143A	probably benign	Het
Unc80	C	T	1: 66,503,669	R361*	probably null	Het
Vcan	T	C	13: 89,703,547	D1098G	probably benign	Het
Vmn1r176	T	A	7: 23,835,381	T116S	probably damaging	Het
Wdr81	C	T	11: 75,454,423	R6K	probably benign	Het
Zan	T	A	5: 137,403,050	T4136S	unknown	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp606	A	T	7: 12,493,971	H615L	probably damaging	Het
Zp3r	A	T	1: 130,582,880	N433K	probably benign	Het

Other mutations in Dclk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Dclk2	APN	3	86799090	critical splice acceptor site	probably null
IGL01769:Dclk2	APN	3	86816360	missense	possibly damaging	0.50
IGL01802:Dclk2	APN	3	86799027	missense	probably damaging	1.00
IGL02296:Dclk2	APN	3	86793293	missense	probably damaging	1.00
IGL02390:Dclk2	APN	3	86824683	missense	probably damaging	0.99
IGL02522:Dclk2	APN	3	86920116	missense	probably benign	0.01
IGL03104:Dclk2	APN	3	86836359	missense	probably damaging	1.00
IGL03337:Dclk2	APN	3	86906059	missense	probably damaging	1.00
R0219:Dclk2	UTSW	3	86813669	splice site	probably benign
R0400:Dclk2	UTSW	3	86813747	splice site	probably null
R0606:Dclk2	UTSW	3	86906004	missense	probably damaging	1.00
R1537:Dclk2	UTSW	3	86806184	missense	probably damaging	0.97
R1569:Dclk2	UTSW	3	86805639	missense	possibly damaging	0.50
R1571:Dclk2	UTSW	3	86805639	missense	possibly damaging	0.50
R1612:Dclk2	UTSW	3	86805639	missense	possibly damaging	0.50
R1689:Dclk2	UTSW	3	86805639	missense	possibly damaging	0.50
R1714:Dclk2	UTSW	3	86906093	missense	probably benign	0.00
R1745:Dclk2	UTSW	3	86805639	missense	possibly damaging	0.50
R1746:Dclk2	UTSW	3	86805639	missense	possibly damaging	0.50
R1752:Dclk2	UTSW	3	86806127	missense	possibly damaging	0.61
R1829:Dclk2	UTSW	3	86805639	missense	possibly damaging	0.50
R2008:Dclk2	UTSW	3	86920035	missense	probably damaging	1.00
R2125:Dclk2	UTSW	3	86805639	missense	possibly damaging	0.50
R2126:Dclk2	UTSW	3	86805639	missense	possibly damaging	0.50
R2132:Dclk2	UTSW	3	86920046	missense	probably benign	0.44
R2314:Dclk2	UTSW	3	86920035	missense	probably damaging	1.00
R2338:Dclk2	UTSW	3	86799017	missense	probably damaging	1.00
R2849:Dclk2	UTSW	3	86793223	missense	probably damaging	1.00
R3108:Dclk2	UTSW	3	86920035	missense	probably damaging	1.00
R3109:Dclk2	UTSW	3	86920035	missense	probably damaging	1.00
R3615:Dclk2	UTSW	3	86920035	missense	probably damaging	1.00
R3616:Dclk2	UTSW	3	86920035	missense	probably damaging	1.00
R4051:Dclk2	UTSW	3	86830822	critical splice donor site	probably null
R4052:Dclk2	UTSW	3	86830822	critical splice donor site	probably null
R4208:Dclk2	UTSW	3	86830822	critical splice donor site	probably null
R4643:Dclk2	UTSW	3	86806180	missense	possibly damaging	0.93
R4654:Dclk2	UTSW	3	86836376	missense	probably damaging	1.00
R4693:Dclk2	UTSW	3	86815093	missense	possibly damaging	0.67
R4716:Dclk2	UTSW	3	86919881	missense	probably damaging	1.00
R4914:Dclk2	UTSW	3	86824742	splice site	probably null
R4915:Dclk2	UTSW	3	86824742	splice site	probably null
R4917:Dclk2	UTSW	3	86824742	splice site	probably null
R5218:Dclk2	UTSW	3	86805678	missense	probably damaging	1.00
R5510:Dclk2	UTSW	3	86906037	missense	possibly damaging	0.93
R5520:Dclk2	UTSW	3	86919840	missense	probably damaging	1.00
R5867:Dclk2	UTSW	3	86791859	makesense	probably null
R5976:Dclk2	UTSW	3	86787225	missense	possibly damaging	0.53
R6048:Dclk2	UTSW	3	86905965	missense	probably damaging	1.00
R6111:Dclk2	UTSW	3	86805661	missense	probably benign	0.28
R6192:Dclk2	UTSW	3	86815150	missense	probably damaging	1.00
R6289:Dclk2	UTSW	3	86831817	missense	probably benign	0.18
R6595:Dclk2	UTSW	3	86792067	critical splice donor site	probably benign
R6897:Dclk2	UTSW	3	86831763	missense	probably benign	0.00
R7061:Dclk2	UTSW	3	86831731	critical splice donor site	probably null
R7095:Dclk2	UTSW	3	86793259	missense	probably damaging	1.00
R7096:Dclk2	UTSW	3	86793259	missense	probably damaging	1.00
R7208:Dclk2	UTSW	3	86799602	splice site	probably null
R7253:Dclk2	UTSW	3	86793259	missense	probably damaging	1.00
R7256:Dclk2	UTSW	3	86793259	missense	probably damaging	1.00
R8003:Dclk2	UTSW	3	86793301	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACGTATGCACTGATTCAAGATGCCC -3'
(R):5'- TCTTCTGCAAACTGATGTGACACCC -3'

Sequencing Primer
(F):5'- CACTGATTCAAGATGCCCATTAGG -3'
(R):5'- CTTCTTATTTCAGAGGACCGAACTG -3'

Posted On

2014-05-09