Mutagenetix > Incidental Mutation

Incidental Mutation 'R7253:Dclk2'

564054

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 #

R7253 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86786151-86920852 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86793259 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 638 (R638H)

Ref Sequence

ENSEMBL: ENSMUSP00000029719 (fasta)

Gene Model

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

AlphaFold

Q6PGN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000029719
AA Change: R638H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029719
Gene: ENSMUSG00000028078
AA Change: R638H

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 benign
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 damaging
Transcript: ENSMUST00000193632
AA Change: R654H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141866
Gene: ENSMUSG00000028078
AA Change: R654H

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 damaging
Transcript: ENSMUST00000195561
AA Change: R637H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142267
Gene: ENSMUSG00000028078
AA Change: R637H

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

0.6467

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (74/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	G	4: 39,451,391	H199R	not run	Het
Ak9	A	G	10: 41,432,484	N1804S	unknown	Het
Akr1c21	C	A	13: 4,577,140	T147N	probably damaging	Het
Aldh1a2	A	G	9: 71,215,934	T30A	probably benign	Het
Alox15	T	C	11: 70,345,898	D447G	probably damaging	Het
Amigo2	T	C	15: 97,245,075	I489V	probably benign	Het
Ano9	A	T	7: 141,107,437	Y322N	probably damaging	Het
Arhgap40	G	T	2: 158,547,656	W583L	probably benign	Het
Atxn2	A	G	5: 121,778,021	E430G	probably damaging	Het
B020004J07Rik	A	T	4: 101,835,528	V425E	probably benign	Het
Brip1	T	C	11: 86,143,278	Y539C	possibly damaging	Het
C87436	T	A	6: 86,465,808	L454Q	probably damaging	Het
Casp4	T	G	9: 5,324,868	Y227D	probably benign	Het
Ccdc151	T	C	9: 22,002,471	T2A	probably damaging	Het
Chd4	T	A	6: 125,106,592		probably null	Het
Chrna10	A	G	7: 102,112,086	C433R	probably benign	Het
Cntln	A	T	4: 85,118,473	N214I	probably damaging	Het
Colec12	G	A	18: 9,848,922	V367I	probably damaging	Het
Cyp46a1	T	C	12: 108,351,996	I222T	probably benign	Het
Dagla	A	T	19: 10,262,581		probably null	Het
Dcaf7	C	A	11: 106,047,843		probably null	Het
E2f7	A	G	10: 110,766,303		probably null	Het
Fam184a	G	T	10: 53,698,805	T236K	probably benign	Het
Fam46a	C	A	9: 85,326,717	G18C	probably benign	Het
Glyctk	T	C	9: 106,155,462	T451A	probably damaging	Het
Hectd4	A	G	5: 121,314,881	K484E	possibly damaging	Het
Hspbap1	G	T	16: 35,817,230	C243F	unknown	Het
Hspg2	A	C	4: 137,519,946	N1160T	probably benign	Het
Ighv5-8	C	T	12: 113,655,108	L48F	probably benign	Het
Jazf1	C	A	6: 52,777,652	E146D	probably benign	Het
Katnb1	C	T	8: 95,095,497	Q284*	probably null	Het
Kctd18	G	T	1: 57,961,956	Y213*	probably null	Het
Klk1b26	T	C	7: 44,014,789	S23P	possibly damaging	Het
Krt88	T	C	15: 101,450,511	L26P	probably damaging	Het
Lrrc8b	G	A	5: 105,481,656	V623I	probably benign	Het
Map3k4	T	A	17: 12,272,068	M159L	probably benign	Het
Mast3	C	A	8: 70,789,682		probably null	Het
Mier1	G	A	4: 103,139,347		probably null	Het
Mrpl46	T	C	7: 78,781,459	D117G	probably damaging	Het
Ms4a6b	A	G	19: 11,520,396	S20G	probably benign	Het
Mup10	A	T	4: 60,582,078	M4K	unknown	Het
Nlrp5	C	T	7: 23,417,391	A180V	possibly damaging	Het
Nlrx1	T	A	9: 44,264,704		probably null	Het
Olfr1195	T	C	2: 88,683,625	T36A	possibly damaging	Het
Olfr313	T	A	11: 58,817,540	C177*	probably null	Het
Olfr315	T	C	11: 58,778,996	Y290H	probably damaging	Het
Olfr437	T	C	6: 43,167,810	F251L	probably damaging	Het
Olfr612	C	T	7: 103,538,788	A149T	probably benign	Het
Olfr992	A	G	2: 85,399,639	I298T	probably benign	Het
Otud1	C	A	2: 19,658,931	D290E	probably damaging	Het
Pank4	A	G	4: 154,970,920	N249S	probably benign	Het
Pccb	G	T	9: 101,031,913	S84R	probably benign	Het
Pemt	A	T	11: 59,971,255	H194Q	possibly damaging	Het
Phtf2	A	G	5: 20,765,858	I634T	possibly damaging	Het
Pias2	T	G	18: 77,120,115	I232R	probably damaging	Het
Plce1	A	G	19: 38,698,508	E620G	probably damaging	Het
Ptpn13	G	A	5: 103,565,284	E1758K	possibly damaging	Het
Ptprq	T	A	10: 107,608,273	Q1490L	probably benign	Het
Ptx3	G	T	3: 66,224,947	M296I	probably benign	Het
R3hdm2	C	T	10: 127,481,775	P464L	probably damaging	Het
Rapgef1	A	G	2: 29,699,721	E258G	possibly damaging	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,579,915		probably benign	Het
Senp8	T	C	9: 59,737,195	N226S	probably benign	Het
Six5	C	T	7: 19,094,976	R114C	probably damaging	Het
Slc10a1	T	C	12: 80,958,184	T195A	probably benign	Het
Slpi	G	T	2: 164,355,547	Q51K	probably benign	Het
Smarca4	T	C	9: 21,658,960	V753A	probably benign	Het
Tbc1d32	C	A	10: 56,198,441	M225I	probably benign	Het
Tnfrsf21	G	A	17: 43,037,667	V57I	probably benign	Het
Trim44	G	T	2: 102,346,968	P336T	possibly damaging	Het
Txlnb	A	G	10: 17,827,885	I264V	probably damaging	Het
Wisp3	T	G	10: 39,155,035	N164T	probably benign	Het
Xirp2	A	C	2: 67,513,482	E2022D	probably benign	Het
Zfp975	A	G	7: 42,661,612	*526R	probably null	Het
Zp1	A	G	19: 10,916,569	L424P	probably damaging	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
R7208:Dclk2	UTSW	3	86799602	splice site	probably null
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'- GACTCCGGTATCAGCCATCTTC -3'
(R):5'- GTCTCATAAGCCCTGATCATGTGG -3'

Sequencing Primer
(F):5'- CCCATGATATTTGGTCATTAGGAGAG -3'
(R):5'- CCCTGATCATGTGGGTGGTTG -3'

Posted On

2019-06-26