Incidental Mutation 'R2132:Dclk2'
ID 233359
Institutional Source Beutler Lab
Gene Symbol Dclk2
Ensembl Gene ENSMUSG00000028078
Gene Name doublecortin-like kinase 2
Synonyms Dcamkl2, 6330415M09Rik, Click-II
MMRRC Submission 040135-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2132 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 86693458-86828159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86827353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 42 (N42S)
Ref Sequence ENSEMBL: ENSMUSP00000141567 (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: N42S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000029719
Gene: ENSMUSG00000028078
AA Change: N42S

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: N42S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000141707
Gene: ENSMUSG00000028078
AA Change: N42S

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: N42S

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141567
Gene: ENSMUSG00000028078
AA Change: N42S

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: N42S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000141866
Gene: ENSMUSG00000028078
AA Change: N42S

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: N42S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000141816
Gene: ENSMUSG00000028078
AA Change: N42S

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: N42S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000142267
Gene: ENSMUSG00000028078
AA Change: N42S

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
Meta Mutation Damage Score 0.0702 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 94% (117/124)
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: 122 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A G 5: 88,112,335 (GRCm39) probably benign Het
4930562C15Rik A C 16: 4,653,835 (GRCm39) Q128P unknown Het
Abcc3 T A 11: 94,258,426 (GRCm39) K473M probably benign Het
Acacb TGGGG TGGG 5: 114,347,828 (GRCm39) probably null Het
Adgrg7 C A 16: 56,588,281 (GRCm39) A199S probably damaging Het
Akap13 G T 7: 75,261,182 (GRCm39) A1269S probably benign Het
Aox3 A G 1: 58,209,002 (GRCm39) H845R probably damaging Het
Ap2b1 T A 11: 83,215,587 (GRCm39) probably benign Het
Atat1 A G 17: 36,220,331 (GRCm39) S54P probably damaging Het
Atp13a2 T A 4: 140,732,327 (GRCm39) M864K probably damaging Het
B3gnt3 G A 8: 72,145,971 (GRCm39) T186M probably damaging Het
Cars1 C A 7: 143,146,211 (GRCm39) R71M probably damaging Het
Castor2 G A 5: 134,164,992 (GRCm39) C187Y probably damaging Het
Ccdc157 A T 11: 4,100,004 (GRCm39) V116E probably damaging Het
Ccdc85a G A 11: 28,384,151 (GRCm39) T408I probably benign Het
Celf1 G T 2: 90,840,791 (GRCm39) G353W probably damaging Het
Celsr1 T A 15: 85,916,168 (GRCm39) I602F possibly damaging Het
Cenpb C T 2: 131,021,226 (GRCm39) V191M probably damaging Het
Cenpn G A 8: 117,661,536 (GRCm39) probably null Het
Cfap65 A C 1: 74,946,850 (GRCm39) C1287G probably damaging Het
Cmya5 G A 13: 93,205,891 (GRCm39) T3326I probably damaging Het
Cnn3 A T 3: 121,245,584 (GRCm39) E100V probably damaging Het
Col4a4 G A 1: 82,475,581 (GRCm39) R583C unknown Het
Commd7 A C 2: 153,463,586 (GRCm39) probably benign Het
Csmd3 T C 15: 48,320,899 (GRCm39) T304A probably benign Het
Cyp4a14 A T 4: 115,348,588 (GRCm39) S325R probably damaging Het
Dmrta1 A T 4: 89,576,946 (GRCm39) Q134L probably damaging Het
Dnaaf3 T A 7: 4,526,800 (GRCm39) I426L probably benign Het
Dnah17 G A 11: 117,924,573 (GRCm39) L3999F probably damaging Het
Dock6 A G 9: 21,757,814 (GRCm39) S97P probably benign Het
Dsg1a T A 18: 20,473,854 (GRCm39) S976T probably damaging Het
Dstyk T A 1: 132,377,222 (GRCm39) M29K probably null Het
Eif3i A T 4: 129,490,719 (GRCm39) H18Q probably benign Het
Epm2a A G 10: 11,219,426 (GRCm39) E71G probably benign Het
Eps15l1 A T 8: 73,140,712 (GRCm39) V260D probably benign Het
Faf1 A G 4: 109,568,042 (GRCm39) N34S probably damaging Het
Fat3 A G 9: 16,158,015 (GRCm39) probably null Het
Fbxw10 T A 11: 62,750,683 (GRCm39) I422N probably damaging Het
Fcgbpl1 C T 7: 27,854,899 (GRCm39) P1842S probably damaging Het
Fkbp15 C A 4: 62,246,136 (GRCm39) G431W probably damaging Het
Flnb A C 14: 7,873,376 (GRCm38) D224A probably benign Het
Flnc G A 6: 29,443,675 (GRCm39) V566M probably damaging Het
Gli3 T A 13: 15,900,134 (GRCm39) S1174T possibly damaging Het
Glmn A T 5: 107,726,321 (GRCm39) V93E probably damaging Het
Glrx2 T C 1: 143,620,842 (GRCm39) S74P possibly damaging Het
Gm5422 G A 10: 31,124,929 (GRCm39) noncoding transcript Het
Gpi1 T C 7: 33,905,339 (GRCm39) K362E probably damaging Het
Gtpbp2 T C 17: 46,472,128 (GRCm39) M21T probably benign Het
Gxylt1 A G 15: 93,142,851 (GRCm39) *405R probably null Het
Heyl T C 4: 123,139,876 (GRCm39) V145A probably damaging Het
Hhipl1 A C 12: 108,277,949 (GRCm39) E92D probably damaging Het
Ifi207 A G 1: 173,557,337 (GRCm39) F467S possibly damaging Het
Ift70b G T 2: 75,767,129 (GRCm39) H541Q probably damaging Het
Igf2r A T 17: 12,941,095 (GRCm39) I462N probably benign Het
Inpp5b A T 4: 124,678,961 (GRCm39) probably benign Het
Kansl2 A G 15: 98,427,278 (GRCm39) I201T probably damaging Het
Kcnh8 T C 17: 53,200,961 (GRCm39) V465A probably damaging Het
Kcnu1 T A 8: 26,341,928 (GRCm39) I91N probably damaging Het
Kif5c T A 2: 49,648,817 (GRCm39) probably benign Het
Klrc3 T A 6: 129,618,501 (GRCm39) Y94F probably benign Het
Lgals3bp T A 11: 118,284,113 (GRCm39) T489S probably benign Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lmtk2 C T 5: 144,111,806 (GRCm39) T842I possibly damaging Het
Magel2 A T 7: 62,027,486 (GRCm39) H130L unknown Het
Magi1 T C 6: 93,674,255 (GRCm39) E951G probably damaging Het
Mcm7 T C 5: 138,167,364 (GRCm39) Q86R probably damaging Het
Med12l G T 3: 59,172,703 (GRCm39) probably null Het
Morc2a A G 11: 3,629,787 (GRCm39) E402G possibly damaging Het
Mphosph8 T C 14: 56,916,161 (GRCm39) C486R probably benign Het
Mpo A G 11: 87,688,187 (GRCm39) D282G possibly damaging Het
Mtcl1 G T 17: 66,650,618 (GRCm39) H1616N probably benign Het
Myh10 A G 11: 68,698,115 (GRCm39) probably benign Het
Myh8 A G 11: 67,183,702 (GRCm39) E777G probably damaging Het
Nid1 A G 13: 13,684,071 (GRCm39) H1186R probably benign Het
Nppb T A 4: 148,070,454 (GRCm39) S8T probably benign Het
Nrp1 A T 8: 129,224,997 (GRCm39) E782D probably damaging Het
Ntrk3 G A 7: 78,127,683 (GRCm39) probably benign Het
Or1ak2 A G 2: 36,827,704 (GRCm39) N191S probably benign Het
Or1j13 A G 2: 36,370,059 (GRCm39) S28P possibly damaging Het
Or2f1 C A 6: 42,721,069 (GRCm39) L33M possibly damaging Het
Or5al5 A G 2: 85,961,605 (GRCm39) V134A possibly damaging Het
Or5b99 T A 19: 12,976,402 (GRCm39) D17E probably benign Het
Or6f1 C T 7: 85,970,687 (GRCm39) V158M possibly damaging Het
Osbpl6 T A 2: 76,416,558 (GRCm39) I546K probably damaging Het
Pard6g T C 18: 80,160,523 (GRCm39) V212A probably damaging Het
Pate6 T G 9: 35,701,039 (GRCm39) probably benign Het
Pdlim4 A G 11: 53,954,563 (GRCm39) L48S possibly damaging Het
Phactr3 T C 2: 177,925,759 (GRCm39) F345L probably benign Het
Plcb1 T A 2: 135,167,587 (GRCm39) Y460* probably null Het
Prcp T A 7: 92,550,488 (GRCm39) V95D probably benign Het
Rfwd3 A T 8: 112,024,034 (GRCm39) V96E probably benign Het
Ror1 A G 4: 100,267,222 (GRCm39) N308D probably benign Het
Sdccag8 C A 1: 176,783,455 (GRCm39) Q655K probably damaging Het
Senp1 T A 15: 97,973,848 (GRCm39) T132S probably benign Het
Skap1 T C 11: 96,355,559 (GRCm39) I10T possibly damaging Het
Slc9a4 T G 1: 40,646,901 (GRCm39) probably null Het
Smad2 T A 18: 76,421,155 (GRCm39) C161* probably null Het
Spata31d1a G T 13: 59,848,857 (GRCm39) D1090E probably damaging Het
Stard13 T C 5: 150,968,633 (GRCm39) Y879C probably damaging Het
Tdrd6 T C 17: 43,935,724 (GRCm39) T1775A probably benign Het
Tecpr1 T A 5: 144,145,463 (GRCm39) T595S probably benign Het
Terf1 A G 1: 15,875,909 (GRCm39) E3G probably benign Het
Tjp3 T A 10: 81,113,888 (GRCm39) M457L possibly damaging Het
Tnfrsf26 C T 7: 143,171,577 (GRCm39) probably null Het
Tor1aip1 A C 1: 155,883,308 (GRCm39) M180R probably damaging Het
Trabd2b A T 4: 114,467,205 (GRCm39) Q478L probably benign Het
Trim41 C A 11: 48,698,419 (GRCm39) G516W probably damaging Het
Ttc39a A G 4: 109,299,903 (GRCm39) Y464C probably damaging Het
Unc5a A G 13: 55,138,896 (GRCm39) S92G probably damaging Het
Unc5d A C 8: 29,365,557 (GRCm39) S143A possibly damaging Het
Usp34 A T 11: 23,414,556 (GRCm39) H2833L possibly damaging Het
Vps35l T C 7: 118,393,798 (GRCm39) Y516H probably damaging Het
Wdr17 T G 8: 55,125,541 (GRCm39) K446N probably damaging Het
Xirp2 A T 2: 67,338,392 (GRCm39) Q211L possibly damaging Het
Xkr7 G A 2: 152,894,816 (GRCm39) R256Q probably benign Het
Zfp236 T C 18: 82,639,429 (GRCm39) M1225V probably benign Het
Zfp268 T A 4: 145,350,803 (GRCm39) probably benign Het
Zfp280d T C 9: 72,215,287 (GRCm39) F133L probably damaging Het
Zfp747l1 T C 7: 126,986,107 (GRCm39) D8G probably benign Het
Zfp758 A G 17: 22,594,951 (GRCm39) H479R probably damaging Het
Zfp827 A G 8: 79,912,350 (GRCm39) N284S possibly damaging Het
Zfyve26 T A 12: 79,315,208 (GRCm39) I1423F 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
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
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
Predicted Primers PCR Primer
(F):5'- TCTATGAGGAGCGCATCGAAGG -3'
(R):5'- TGTCCCGCTGCTTTAAGAC -3'

Sequencing Primer
(F):5'- CGCATCGAAGGAACGGAAAC -3'
(R):5'- CGCTGCTTTAAGACGGGAC -3'
Posted On 2014-10-01