Incidental Mutation 'IGL03104:Dclk2'
ID 418857
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dclk2
Ensembl Gene ENSMUSG00000028078
Gene Name doublecortin-like kinase 2
Synonyms Dcamkl2, 6330415M09Rik, Click-II
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03104
Quality Score
Status
Chromosome 3
Chromosomal Location 86693458-86828159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86743666 bp (GRCm39)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 C A 1: 58,321,918 (GRCm39) T70K probably benign Het
Armt1 T A 10: 4,389,615 (GRCm39) Y91N possibly damaging Het
Atp1a2 A G 1: 172,120,934 (GRCm39) L46S probably damaging Het
Baz1a A G 12: 54,941,743 (GRCm39) S1488P probably damaging Het
Coro7 T A 16: 4,446,990 (GRCm39) E793V probably damaging Het
Ctnnbl1 G T 2: 157,732,885 (GRCm39) R555L probably damaging Het
Dock7 A T 4: 98,847,260 (GRCm39) M1684K possibly damaging Het
Dock8 T A 19: 25,178,384 (GRCm39) C2092* probably null Het
Dtx1 T A 5: 120,833,030 (GRCm39) Q136L possibly damaging Het
Egln3 C T 12: 54,249,981 (GRCm39) probably benign Het
Eml5 A T 12: 98,827,504 (GRCm39) Y575* probably null Het
Entpd5 A T 12: 84,431,022 (GRCm39) V310E probably damaging Het
Fkbp5 A G 17: 28,634,946 (GRCm39) F188L probably damaging Het
Frrs1 T C 3: 116,675,431 (GRCm39) S120P probably benign Het
Gadl1 T C 9: 115,903,108 (GRCm39) I479T possibly damaging Het
Gfra2 A T 14: 71,205,725 (GRCm39) M106L probably benign Het
Gm17455 T A 10: 60,239,060 (GRCm39) C108* probably null Het
Grhpr A G 4: 44,983,867 (GRCm39) probably benign Het
Hsp90ab1 G A 17: 45,882,449 (GRCm39) R82C probably damaging Het
Igsf10 T C 3: 59,226,905 (GRCm39) Y2256C probably damaging Het
Ivd A T 2: 118,703,384 (GRCm39) I160F probably benign Het
Krtap5-5 A G 7: 141,783,450 (GRCm39) C67R unknown Het
Lhx4 A T 1: 155,580,967 (GRCm39) V186E probably damaging Het
Lrrk2 T C 15: 91,631,958 (GRCm39) I1294T possibly damaging Het
Map3k5 C T 10: 20,007,801 (GRCm39) S1202L probably benign Het
Mdfic T A 6: 15,770,319 (GRCm39) N108K probably damaging Het
Mov10 G A 3: 104,704,623 (GRCm39) R763W probably damaging Het
Mto1 T C 9: 78,356,802 (GRCm39) S106P probably damaging Het
Naca C T 10: 127,876,233 (GRCm39) probably benign Het
Or10j27 A G 1: 172,958,526 (GRCm39) V86A probably benign Het
Or8s10 A G 15: 98,336,127 (GRCm39) Y259C possibly damaging Het
Pan2 T C 10: 128,151,532 (GRCm39) probably benign Het
Pold1 T C 7: 44,190,004 (GRCm39) Y394C probably damaging Het
Sipa1l1 T A 12: 82,388,904 (GRCm39) S377T probably benign Het
Sirpd G T 3: 15,397,283 (GRCm39) probably benign Het
Slc36a3 A G 11: 55,015,946 (GRCm39) S403P probably damaging Het
Slc4a4 A G 5: 89,297,231 (GRCm39) T480A probably damaging Het
Slu7 G A 11: 43,332,883 (GRCm39) V315I probably benign Het
St6galnac3 T C 3: 152,911,115 (GRCm39) E282G probably damaging Het
Tlr12 A G 4: 128,509,685 (GRCm39) V855A probably benign Het
Tut7 T C 13: 59,962,717 (GRCm39) D350G probably benign Het
Vmn1r53 T A 6: 90,200,944 (GRCm39) K127* probably null Het
Vmn1r72 T G 7: 11,403,812 (GRCm39) H212P probably damaging Het
Vmn2r86 T A 10: 130,282,501 (GRCm39) Q705L probably damaging Het
Vps33b C T 7: 79,925,831 (GRCm39) R93C probably damaging Het
Wdr91 T A 6: 34,882,491 (GRCm39) E219D probably benign Het
Zan G A 5: 137,461,762 (GRCm39) T1139I unknown Het
Zc3hav1 T A 6: 38,317,278 (GRCm39) K107N probably damaging Het
Zmym2 A G 14: 57,187,784 (GRCm39) E1150G possibly damaging Het
Other mutations in Dclk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Dclk2 APN 3 86,706,397 (GRCm39) critical splice acceptor site probably null
IGL01769:Dclk2 APN 3 86,723,667 (GRCm39) missense possibly damaging 0.50
IGL01802:Dclk2 APN 3 86,706,334 (GRCm39) missense probably damaging 1.00
IGL02296:Dclk2 APN 3 86,700,600 (GRCm39) missense probably damaging 1.00
IGL02390:Dclk2 APN 3 86,731,990 (GRCm39) missense probably damaging 0.99
IGL02522:Dclk2 APN 3 86,827,423 (GRCm39) missense probably benign 0.01
IGL03337:Dclk2 APN 3 86,813,366 (GRCm39) missense probably damaging 1.00
R0219:Dclk2 UTSW 3 86,720,976 (GRCm39) splice site probably benign
R0400:Dclk2 UTSW 3 86,721,054 (GRCm39) splice site probably null
R0606:Dclk2 UTSW 3 86,813,311 (GRCm39) missense probably damaging 1.00
R1537:Dclk2 UTSW 3 86,713,491 (GRCm39) missense probably damaging 0.97
R1569:Dclk2 UTSW 3 86,712,946 (GRCm39) missense possibly damaging 0.50
R1571:Dclk2 UTSW 3 86,712,946 (GRCm39) missense possibly damaging 0.50
R1612:Dclk2 UTSW 3 86,712,946 (GRCm39) missense possibly damaging 0.50
R1680:Dclk2 UTSW 3 86,712,946 (GRCm39) missense possibly damaging 0.50
R1689:Dclk2 UTSW 3 86,712,946 (GRCm39) missense possibly damaging 0.50
R1714:Dclk2 UTSW 3 86,813,400 (GRCm39) missense probably benign 0.00
R1745:Dclk2 UTSW 3 86,712,946 (GRCm39) missense possibly damaging 0.50
R1746:Dclk2 UTSW 3 86,712,946 (GRCm39) missense possibly damaging 0.50
R1752:Dclk2 UTSW 3 86,713,434 (GRCm39) missense possibly damaging 0.61
R1829:Dclk2 UTSW 3 86,712,946 (GRCm39) missense possibly damaging 0.50
R2008:Dclk2 UTSW 3 86,827,342 (GRCm39) missense probably damaging 1.00
R2125:Dclk2 UTSW 3 86,712,946 (GRCm39) missense possibly damaging 0.50
R2126:Dclk2 UTSW 3 86,712,946 (GRCm39) missense possibly damaging 0.50
R2132:Dclk2 UTSW 3 86,827,353 (GRCm39) missense probably benign 0.44
R2314:Dclk2 UTSW 3 86,827,342 (GRCm39) missense probably damaging 1.00
R2338:Dclk2 UTSW 3 86,706,324 (GRCm39) missense probably damaging 1.00
R2849:Dclk2 UTSW 3 86,700,530 (GRCm39) missense probably damaging 1.00
R3108:Dclk2 UTSW 3 86,827,342 (GRCm39) missense probably damaging 1.00
R3109:Dclk2 UTSW 3 86,827,342 (GRCm39) missense probably damaging 1.00
R3615:Dclk2 UTSW 3 86,827,342 (GRCm39) missense probably damaging 1.00
R3616:Dclk2 UTSW 3 86,827,342 (GRCm39) missense probably damaging 1.00
R4051:Dclk2 UTSW 3 86,738,129 (GRCm39) critical splice donor site probably null
R4052:Dclk2 UTSW 3 86,738,129 (GRCm39) critical splice donor site probably null
R4208:Dclk2 UTSW 3 86,738,129 (GRCm39) critical splice donor site probably null
R4643:Dclk2 UTSW 3 86,713,487 (GRCm39) missense possibly damaging 0.93
R4654:Dclk2 UTSW 3 86,743,683 (GRCm39) missense probably damaging 1.00
R4693:Dclk2 UTSW 3 86,722,400 (GRCm39) missense possibly damaging 0.67
R4716:Dclk2 UTSW 3 86,827,188 (GRCm39) missense probably damaging 1.00
R4914:Dclk2 UTSW 3 86,732,049 (GRCm39) splice site probably null
R4915:Dclk2 UTSW 3 86,732,049 (GRCm39) splice site probably null
R4917:Dclk2 UTSW 3 86,732,049 (GRCm39) splice site probably null
R5218:Dclk2 UTSW 3 86,712,985 (GRCm39) missense probably damaging 1.00
R5510:Dclk2 UTSW 3 86,813,344 (GRCm39) missense possibly damaging 0.93
R5520:Dclk2 UTSW 3 86,827,147 (GRCm39) missense probably damaging 1.00
R5867:Dclk2 UTSW 3 86,699,166 (GRCm39) makesense probably null
R5976:Dclk2 UTSW 3 86,694,532 (GRCm39) missense possibly damaging 0.53
R6048:Dclk2 UTSW 3 86,813,272 (GRCm39) missense probably damaging 1.00
R6111:Dclk2 UTSW 3 86,712,968 (GRCm39) missense probably benign 0.28
R6192:Dclk2 UTSW 3 86,722,457 (GRCm39) missense probably damaging 1.00
R6289:Dclk2 UTSW 3 86,739,124 (GRCm39) missense probably benign 0.18
R6595:Dclk2 UTSW 3 86,699,374 (GRCm39) critical splice donor site probably benign
R6897:Dclk2 UTSW 3 86,739,070 (GRCm39) missense probably benign 0.00
R7061:Dclk2 UTSW 3 86,739,038 (GRCm39) critical splice donor site probably null
R7095:Dclk2 UTSW 3 86,700,566 (GRCm39) missense probably damaging 1.00
R7096:Dclk2 UTSW 3 86,700,566 (GRCm39) missense probably damaging 1.00
R7208:Dclk2 UTSW 3 86,706,909 (GRCm39) splice site probably null
R7253:Dclk2 UTSW 3 86,700,566 (GRCm39) missense probably damaging 1.00
R7256:Dclk2 UTSW 3 86,700,566 (GRCm39) missense probably damaging 1.00
R8003:Dclk2 UTSW 3 86,700,608 (GRCm39) critical splice acceptor site probably null
R8061:Dclk2 UTSW 3 86,720,981 (GRCm39) splice site probably benign
R8927:Dclk2 UTSW 3 86,739,048 (GRCm39) missense probably damaging 1.00
R8928:Dclk2 UTSW 3 86,739,048 (GRCm39) missense probably damaging 1.00
R8964:Dclk2 UTSW 3 86,743,698 (GRCm39) missense probably damaging 1.00
R9704:Dclk2 UTSW 3 86,827,387 (GRCm39) missense possibly damaging 0.66
Posted On 2016-08-02