Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03104:Dclk2'

418857

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dclk2

Ensembl Gene

ENSMUSG00000028078

Gene Name

doublecortin-like kinase 2

Synonyms

Dcamkl2, Click-II, 6330415M09Rik

Accession Numbers

Genbank: NM_027539; MGI: 1918012

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03104

Quality Score

Status

Chromosome

Chromosomal Location

86786151-86920852 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86836359 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 268 (C268R)

Ref Sequence

ENSEMBL: ENSMUSP00000141816 (fasta)

Gene Model

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

AlphaFold

Q6PGN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000029719
AA Change: C268R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029719
Gene: ENSMUSG00000028078
AA Change: C268R

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 damaging
Transcript: ENSMUST00000191752
AA Change: C268R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141707
Gene: ENSMUSG00000028078
AA Change: C268R

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 damaging
Transcript: ENSMUST00000192773
AA Change: C268R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141567
Gene: ENSMUSG00000028078
AA Change: C268R

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: C268R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141866
Gene: ENSMUSG00000028078
AA Change: C268R

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: ENSMUST00000194452
AA Change: C268R

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

SMART Domains

Protein: ENSMUSP00000141816
Gene: ENSMUSG00000028078
AA Change: C268R

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 damaging
Transcript: ENSMUST00000195561
AA Change: C268R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142267
Gene: ENSMUSG00000028078
AA Change: C268R

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox2	C	A	1: 58,282,759	T70K	probably benign	Het
Armt1	T	A	10: 4,439,615	Y91N	possibly damaging	Het
Atp1a2	A	G	1: 172,293,367	L46S	probably damaging	Het
Baz1a	A	G	12: 54,894,958	S1488P	probably damaging	Het
Coro7	T	A	16: 4,629,126	E793V	probably damaging	Het
Ctnnbl1	G	T	2: 157,890,965	R555L	probably damaging	Het
Dock7	A	T	4: 98,959,023	M1684K	possibly damaging	Het
Dock8	T	A	19: 25,201,020	C2092*	probably null	Het
Dtx1	T	A	5: 120,694,965	Q136L	possibly damaging	Het
Egln3	C	T	12: 54,203,195		probably benign	Het
Eml5	A	T	12: 98,861,245	Y575*	probably null	Het
Entpd5	A	T	12: 84,384,248	V310E	probably damaging	Het
Fkbp5	A	G	17: 28,415,972	F188L	probably damaging	Het
Frrs1	T	C	3: 116,881,782	S120P	probably benign	Het
Gadl1	T	C	9: 116,074,040	I479T	possibly damaging	Het
Gfra2	A	T	14: 70,968,285	M106L	probably benign	Het
Gm17455	T	A	10: 60,403,281	C108*	probably null	Het
Gm9733	G	T	3: 15,332,223		probably benign	Het
Grhpr	A	G	4: 44,983,867		probably benign	Het
Hsp90ab1	G	A	17: 45,571,523	R82C	probably damaging	Het
Igsf10	T	C	3: 59,319,484	Y2256C	probably damaging	Het
Ivd	A	T	2: 118,872,903	I160F	probably benign	Het
Krtap5-5	A	G	7: 142,229,713	C67R	unknown	Het
Lhx4	A	T	1: 155,705,221	V186E	probably damaging	Het
Lrrk2	T	C	15: 91,747,755	I1294T	possibly damaging	Het
Map3k5	C	T	10: 20,132,055	S1202L	probably benign	Het
Mdfic	T	A	6: 15,770,320	N108K	probably damaging	Het
Mov10	G	A	3: 104,797,307	R763W	probably damaging	Het
Mto1	T	C	9: 78,449,520	S106P	probably damaging	Het
Naca	C	T	10: 128,040,364		probably benign	Het
Olfr1408	A	G	1: 173,130,959	V86A	probably benign	Het
Olfr282	A	G	15: 98,438,246	Y259C	possibly damaging	Het
Pan2	T	C	10: 128,315,663		probably benign	Het
Pold1	T	C	7: 44,540,580	Y394C	probably damaging	Het
Sipa1l1	T	A	12: 82,342,130	S377T	probably benign	Het
Slc36a3	A	G	11: 55,125,120	S403P	probably damaging	Het
Slc4a4	A	G	5: 89,149,372	T480A	probably damaging	Het
Slu7	G	A	11: 43,442,056	V315I	probably benign	Het
St6galnac3	T	C	3: 153,205,478	E282G	probably damaging	Het
Tlr12	A	G	4: 128,615,892	V855A	probably benign	Het
Vmn1r53	T	A	6: 90,223,962	K127*	probably null	Het
Vmn1r72	T	G	7: 11,669,885	H212P	probably damaging	Het
Vmn2r86	T	A	10: 130,446,632	Q705L	probably damaging	Het
Vps33b	C	T	7: 80,276,083	R93C	probably damaging	Het
Wdr91	T	A	6: 34,905,556	E219D	probably benign	Het
Zan	G	A	5: 137,463,500	T1139I	unknown	Het
Zc3hav1	T	A	6: 38,340,343	K107N	probably damaging	Het
Zcchc6	T	C	13: 59,814,903	D350G	probably benign	Het
Zmym2	A	G	14: 56,950,327	E1150G	possibly 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
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
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

Posted On

2016-08-02