Mutagenetix > Incidental Mutation

Incidental Mutation 'R7208:Dclk2'

574579

Institutional Source

Beutler Lab

Gene Symbol

Dclk2

Ensembl Gene

ENSMUSG00000028078

Gene Name

doublecortin-like kinase 2

Synonyms

Dcamkl2, Click-II, 6330415M09Rik

MMRRC Submission

Accession Numbers

Genbank: NM_027539; MGI: 1918012

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86786151-86920852 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 86799602 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142267 (fasta)

Gene Model

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

AlphaFold

Q6PGN3

Predicted Effect

probably null
Transcript: ENSMUST00000029719

SMART Domains

Protein: ENSMUSP00000029719
Gene: ENSMUSG00000028078

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

probably null
Transcript: ENSMUST00000029719

SMART Domains

Protein: ENSMUSP00000029719
Gene: ENSMUSG00000028078

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

probably null
Transcript: ENSMUST00000191752

SMART Domains

Protein: ENSMUSP00000141707
Gene: ENSMUSG00000028078

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 null
Transcript: ENSMUST00000191752

SMART Domains

Protein: ENSMUSP00000141707
Gene: ENSMUSG00000028078

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

SMART Domains

Protein: ENSMUSP00000141567
Gene: ENSMUSG00000028078

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 null
Transcript: ENSMUST00000193632

SMART Domains

Protein: ENSMUSP00000141866
Gene: ENSMUSG00000028078

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 null
Transcript: ENSMUST00000193632

SMART Domains

Protein: ENSMUSP00000141866
Gene: ENSMUSG00000028078

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 null
Transcript: ENSMUST00000194452

SMART Domains

Protein: ENSMUSP00000141816
Gene: ENSMUSG00000028078

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 null
Transcript: ENSMUST00000194452

SMART Domains

Protein: ENSMUSP00000141816
Gene: ENSMUSG00000028078

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 null
Transcript: ENSMUST00000195561

SMART Domains

Protein: ENSMUSP00000142267
Gene: ENSMUSG00000028078

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

Predicted Effect

probably null
Transcript: ENSMUST00000195561

SMART Domains

Protein: ENSMUSP00000142267
Gene: ENSMUSG00000028078

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (76/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,308,645		probably null	Het
Aass	T	C	6: 23,074,630	K854E	probably damaging	Het
Abcd2	G	T	15: 91,190,682	Y309*	probably null	Het
Ache	G	A	5: 137,291,489	G360D	probably damaging	Het
Acot12	T	C	13: 91,781,242	L396P	probably benign	Het
Acox2	T	G	14: 8,241,303	D603A	probably benign	Het
Adam3	C	A	8: 24,711,401	K245N	probably damaging	Het
Ankhd1	T	C	18: 36,625,028	I925T	probably benign	Het
Arhgap27	C	T	11: 103,360,759	V48M	probably damaging	Het
Atm	A	T	9: 53,512,008		probably null	Het
B4galt4	T	A	16: 38,753,940	F92Y	probably damaging	Het
Brwd1	C	T	16: 96,035,959	R891Q	probably damaging	Het
Calcr	T	C	6: 3,687,612	Q462R	probably benign	Het
Ccdc112	T	C	18: 46,287,631	R351G	probably damaging	Het
Ccdc80	T	G	16: 45,096,710	S610A	probably benign	Het
Cdh20	C	A	1: 104,954,071	N420K	possibly damaging	Het
Cntn3	G	A	6: 102,278,422	R172*	probably null	Het
Ctnnd1	G	T	2: 84,622,046	Q78K	possibly damaging	Het
D16Ertd472e	A	T	16: 78,575,926	L41H	probably damaging	Het
Dmwd	C	T	7: 19,080,309	H295Y	probably benign	Het
Dnaic2	T	C	11: 114,757,162	V588A	unknown	Het
Dtx4	C	T	19: 12,482,073		probably null	Het
Dync2h1	C	A	9: 7,141,059	D1323Y	probably damaging	Het
Fcgbp	T	A	7: 28,104,021	H1683Q	probably benign	Het
Fndc3c1	G	C	X: 106,435,073	L724V	possibly damaging	Het
Gm4070	A	C	7: 105,902,179	S555R	possibly damaging	Het
Gm9195	A	G	14: 72,451,752	S1876P	possibly damaging	Het
Grhl2	A	C	15: 37,335,736	K431T	probably damaging	Het
Grm7	T	G	6: 111,358,569	I647S	possibly damaging	Het
Gtf2ird1	T	C	5: 134,411,094	N94S	probably benign	Het
Hmgcs1	G	T	13: 119,701,084	G195W	probably damaging	Het
Hrc	A	T	7: 45,336,565	Y380F	possibly damaging	Het
Kcnu1	C	T	8: 25,919,637	Q863*	probably null	Het
Lemd2	G	A	17: 27,196,191	P300L	probably damaging	Het
Lnpep	A	T	17: 17,552,910	Y665*	probably null	Het
Lrfn1	A	G	7: 28,467,139	T653A	probably benign	Het
Ly6g6c	A	G	17: 35,067,411	T8A	unknown	Het
Mcm5	T	C	8: 75,121,716		probably null	Het
Med28	A	T	5: 45,523,452	D86V	probably damaging	Het
Mup11	A	G	4: 60,659,726	S171P	possibly damaging	Het
Nckap1	A	G	2: 80,540,198	F383L	probably benign	Het
Nid1	G	C	13: 13,468,385	G303R	probably benign	Het
Nkain3	A	G	4: 20,282,892	V147A	probably benign	Het
Olfr361	A	G	2: 37,085,658	V30A	probably benign	Het
Pde9a	G	A	17: 31,420,284	V63I	possibly damaging	Het
Pdlim2	T	A	14: 70,174,377	I69F	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Phf20l1	T	C	15: 66,604,789	I245T	probably benign	Het
Prmt8	C	T	6: 127,689,829	R394H	possibly damaging	Het
Prpf4b	T	A	13: 34,884,011	D274E	unknown	Het
Psmd6	A	T	14: 14,112,225		probably null	Het
Rgs16	T	C	1: 153,741,670	L69P	probably damaging	Het
Robo3	A	T	9: 37,424,724	I482N	probably damaging	Het
Scara3	C	T	14: 65,931,266	V301I	possibly damaging	Het
Serpina1b	T	A	12: 103,728,294	H397L	probably benign	Het
Skint11	T	A	4: 114,231,747	L246Q	probably damaging	Het
Skint5	T	A	4: 113,539,339	R1212S	unknown	Het
Slc11a2	T	C	15: 100,402,332	D348G	probably benign	Het
Slc15a2	T	C	16: 36,756,281	K495E	probably benign	Het
Son	T	G	16: 91,662,102	D2072E	unknown	Het
Stau1	A	G	2: 166,963,574	V34A	probably damaging	Het
Stk3	G	T	15: 35,073,116	L153I	possibly damaging	Het
Swi5	A	T	2: 32,287,910	V13E	probably benign	Het
Syne2	A	T	12: 76,031,398		probably null	Het
Synm	T	C	7: 67,734,915	M558V	probably benign	Het
Tep1	T	A	14: 50,824,556		probably null	Het
Tmc6	A	G	11: 117,776,325	V149A	probably benign	Het
Tmem214	T	A	5: 30,870,721	V95E	possibly damaging	Het
Tnnt2	T	A	1: 135,850,376		probably null	Het
Txlna	A	G	4: 129,631,278		probably null	Het
Vmn2r26	T	C	6: 124,061,989	I841T	probably damaging	Het
Wasf2	G	A	4: 133,195,734	V452I	probably damaging	Het
Wdr62	C	T	7: 30,252,336	D673N	probably damaging	Het
Wdr78	T	G	4: 103,066,352	I427L	probably benign	Het
Wdr95	C	T	5: 149,595,371	T559I	probably benign	Het
Zbtb40	A	T	4: 136,999,626		probably null	Het
Zfat	T	C	15: 68,180,007	E646G	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
R1680: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
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
R8061:Dclk2	UTSW	3	86813674	splice site	probably benign
R8927:Dclk2	UTSW	3	86831741	missense	probably damaging	1.00
R8928:Dclk2	UTSW	3	86831741	missense	probably damaging	1.00
R8964:Dclk2	UTSW	3	86836391	missense	probably damaging	1.00
R9704:Dclk2	UTSW	3	86920080	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- AACAGCTATGTGCCTTTGTTAGC -3'
(R):5'- AGCACAGTTGAATAGAAGCCTC -3'

Sequencing Primer
(F):5'- GTTAGCCGTGTCAAAGCATG -3'
(R):5'- TCTCACAGCTGTTAAGGG -3'

Posted On

2019-09-18