Incidental Mutation 'IGL02522:Dclk2'
ID 296925
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 # IGL02522
Quality Score
Status
Chromosome 3
Chromosomal Location 86693458-86828159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86827423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 19 (P19S)
Ref Sequence ENSEMBL: ENSMUSP00000141866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029719] [ENSMUST00000191752] [ENSMUST00000192773] [ENSMUST00000193632] [ENSMUST00000194452] [ENSMUST00000195561]
AlphaFold Q6PGN3
Predicted Effect probably benign
Transcript: ENSMUST00000029719
AA Change: P19S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029719
Gene: ENSMUSG00000028078
AA Change: P19S

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 benign
Transcript: ENSMUST00000191752
AA Change: P19S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141707
Gene: ENSMUSG00000028078
AA Change: P19S

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 benign
Transcript: ENSMUST00000192773
AA Change: P19S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141567
Gene: ENSMUSG00000028078
AA Change: P19S

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 benign
Transcript: ENSMUST00000193632
AA Change: P19S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000141866
Gene: ENSMUSG00000028078
AA Change: P19S

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 benign
Transcript: ENSMUST00000194452
AA Change: P19S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141816
Gene: ENSMUSG00000028078
AA Change: P19S

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 benign
Transcript: ENSMUST00000195561
AA Change: P19S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142267
Gene: ENSMUSG00000028078
AA Change: P19S

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik A G 10: 78,903,633 (GRCm39) S228P probably benign Het
Apba1 T C 19: 23,889,809 (GRCm39) probably benign Het
Arel1 T C 12: 84,974,684 (GRCm39) D486G probably damaging Het
Celf1 T C 2: 90,839,646 (GRCm39) V357A possibly damaging Het
Chd6 T C 2: 160,807,716 (GRCm39) S1833G probably benign Het
Ctsa T C 2: 164,681,061 (GRCm39) probably benign Het
Dpp10 T C 1: 123,351,381 (GRCm39) H308R probably benign Het
Dst A T 1: 34,289,781 (GRCm39) probably benign Het
Enpp2 A T 15: 54,762,336 (GRCm39) M201K probably damaging Het
Epha7 A T 4: 28,821,494 (GRCm39) T220S possibly damaging Het
Grip1 A G 10: 119,767,154 (GRCm39) D93G probably damaging Het
Hipk3 T C 2: 104,301,676 (GRCm39) K172R probably damaging Het
Hrob T C 11: 102,148,746 (GRCm39) S386P possibly damaging Het
Iqgap3 A G 3: 88,015,705 (GRCm39) N29S possibly damaging Het
Lyst T C 13: 13,809,290 (GRCm39) V320A possibly damaging Het
Magi1 T C 6: 93,655,617 (GRCm39) D1127G possibly damaging Het
Pkhd1l1 A T 15: 44,419,298 (GRCm39) D2921V possibly damaging Het
Pla2r1 T A 2: 60,259,013 (GRCm39) Y1125F probably benign Het
Psg20 T A 7: 18,416,356 (GRCm39) L253F probably benign Het
Rdx A G 9: 51,979,504 (GRCm39) K209R possibly damaging Het
Rpsa A T 9: 119,960,121 (GRCm39) Q228L possibly damaging Het
Slc10a5 T C 3: 10,400,181 (GRCm39) I160V probably benign Het
Tec C T 5: 72,946,515 (GRCm39) V71I probably benign Het
Tln1 T C 4: 43,540,612 (GRCm39) E1463G probably benign Het
Trim12a C T 7: 103,950,038 (GRCm39) probably null Het
Vcan G T 13: 89,852,968 (GRCm39) T664K probably benign 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
IGL03104:Dclk2 APN 3 86,743,666 (GRCm39) missense probably damaging 1.00
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 2015-04-16