Incidental Mutation 'R2125:Dclk2'
ID 229735
Institutional Source Beutler Lab
Gene Symbol Dclk2
Ensembl Gene ENSMUSG00000028078
Gene Name doublecortin-like kinase 2
Synonyms Dcamkl2, 6330415M09Rik, Click-II
MMRRC Submission 040128-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2125 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 86693458-86828159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86712946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 503 (R503Q)
Ref Sequence ENSEMBL: ENSMUSP00000141707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029719] [ENSMUST00000191752] [ENSMUST00000192773] [ENSMUST00000193632] [ENSMUST00000194452] [ENSMUST00000195561]
AlphaFold Q6PGN3
Predicted Effect possibly damaging
Transcript: ENSMUST00000029719
AA Change: R503Q

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029719
Gene: ENSMUSG00000028078
AA Change: R503Q

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 possibly damaging
Transcript: ENSMUST00000191752
AA Change: R503Q

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141707
Gene: ENSMUSG00000028078
AA Change: R503Q

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: R502Q

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000141567
Gene: ENSMUSG00000028078
AA Change: R502Q

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: R519Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000141866
Gene: ENSMUSG00000028078
AA Change: R519Q

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: R502Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141816
Gene: ENSMUSG00000028078
AA Change: R502Q

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: R502Q

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142267
Gene: ENSMUSG00000028078
AA Change: R502Q

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 59,947,066 (GRCm39) T255A possibly damaging Het
Abcb10 A C 8: 124,691,831 (GRCm39) V378G probably benign Het
Ackr2 C T 9: 121,737,852 (GRCm39) R76* probably null Het
Acly T C 11: 100,414,322 (GRCm39) T35A probably benign Het
Acp7 A C 7: 28,328,974 (GRCm39) F69V probably damaging Het
Acsl3 T A 1: 78,659,678 (GRCm39) I110N probably damaging Het
Adam5 C T 8: 25,305,134 (GRCm39) V107M probably damaging Het
Adck2 T C 6: 39,552,076 (GRCm39) V281A probably benign Het
Adgrv1 A G 13: 81,567,654 (GRCm39) V5173A probably benign Het
Adgrv1 A T 13: 81,568,069 (GRCm39) S5035T probably benign Het
Arl10 T A 13: 54,726,937 (GRCm39) probably null Het
B3gnt3 A G 8: 72,146,002 (GRCm39) W176R probably damaging Het
B4galt4 T C 16: 38,586,300 (GRCm39) I3T probably damaging Het
Casr T C 16: 36,315,614 (GRCm39) I819V possibly damaging Het
Cdh1 T C 8: 107,383,472 (GRCm39) V237A probably damaging Het
Col22a1 G A 15: 71,720,426 (GRCm39) R605C unknown Het
Crlf3 A G 11: 79,950,081 (GRCm39) V183A probably benign Het
Crtac1 C A 19: 42,312,171 (GRCm39) V181L probably damaging Het
Dnah12 A T 14: 26,445,613 (GRCm39) R725* probably null Het
Dnhd1 A T 7: 105,327,178 (GRCm39) H709L probably benign Het
Dop1a A G 9: 86,403,099 (GRCm39) Y1431C probably damaging Het
Ecpas T C 4: 58,833,978 (GRCm39) H834R probably benign Het
Eif2ak4 A T 2: 118,252,604 (GRCm39) H392L probably benign Het
Entpd3 T C 9: 120,384,720 (GRCm39) I99T probably damaging Het
Epha6 T C 16: 59,503,051 (GRCm39) D952G probably damaging Het
Exoc6 T C 19: 37,579,389 (GRCm39) L429P probably damaging Het
F13a1 A G 13: 37,076,815 (GRCm39) S625P probably benign Het
Fcgbpl1 A T 7: 27,857,447 (GRCm39) Y2265F probably benign Het
Fcho2 T C 13: 98,912,406 (GRCm39) N240S possibly damaging Het
Fcrl6 C T 1: 172,426,815 (GRCm39) V44M probably benign Het
Fmo6 A T 1: 162,757,527 (GRCm39) M82K possibly damaging Het
Gabrr2 T G 4: 33,095,548 (GRCm39) I479R probably damaging Het
Gnl2 T A 4: 124,947,278 (GRCm39) F633L probably benign Het
Greb1l C T 18: 10,511,422 (GRCm39) S648F probably damaging Het
Gsap T A 5: 21,447,811 (GRCm39) C290S probably damaging Het
Gusb A G 5: 130,028,288 (GRCm39) V268A probably benign Het
H2-D1 G A 17: 35,483,091 (GRCm39) probably null Het
Hebp2 T A 10: 18,417,008 (GRCm39) E164D probably benign Het
Higd1a A T 9: 121,679,313 (GRCm39) I58N probably damaging Het
Hoxc13 G T 15: 102,835,658 (GRCm39) R262L probably damaging Het
Ifih1 A G 2: 62,453,811 (GRCm39) V218A probably benign Het
Impg2 T A 16: 56,085,427 (GRCm39) Y1045N probably damaging Het
Kcnk1 A G 8: 126,722,395 (GRCm39) E66G probably damaging Het
Klkb1 A G 8: 45,728,541 (GRCm39) V406A possibly damaging Het
Klra10 G A 6: 130,256,241 (GRCm39) R138W probably damaging Het
Lama2 A C 10: 26,920,449 (GRCm39) Y193* probably null Het
Larp7 T C 3: 127,336,779 (GRCm39) T428A probably benign Het
Lipg T C 18: 75,078,956 (GRCm39) N432S probably benign Het
Loxl1 T C 9: 58,200,995 (GRCm39) D489G probably damaging Het
Lrguk A G 6: 34,069,837 (GRCm39) K571E probably benign Het
Map3k13 C T 16: 21,710,894 (GRCm39) T59I probably benign Het
Mertk T A 2: 128,604,058 (GRCm39) D397E probably benign Het
Mgat3 G A 15: 80,096,087 (GRCm39) V305I probably benign Het
Mrtfb T C 16: 13,218,668 (GRCm39) V449A possibly damaging Het
Mybpc1 G A 10: 88,409,299 (GRCm39) Q66* probably null Het
Myo3a A G 2: 22,468,186 (GRCm39) D480G probably benign Het
Ndufaf3 C T 9: 108,443,936 (GRCm39) R31Q probably benign Het
Neb T C 2: 52,200,650 (GRCm39) Y343C probably damaging Het
Nrxn3 A G 12: 89,227,290 (GRCm39) probably null Het
Or4c10b A G 2: 89,711,982 (GRCm39) M271V probably benign Het
Or8k40 A T 2: 86,584,796 (GRCm39) N95K probably benign Het
Pcsk4 T C 10: 80,159,713 (GRCm39) M379V probably benign Het
Pdzd2 A T 15: 12,373,676 (GRCm39) V2153E probably benign Het
Pkd2l1 T C 19: 44,142,939 (GRCm39) D427G possibly damaging Het
Plcd4 A G 1: 74,604,311 (GRCm39) Y763C probably damaging Het
Plekhh1 T C 12: 79,125,774 (GRCm39) F1270S probably damaging Het
Pmfbp1 T C 8: 110,246,905 (GRCm39) V259A probably damaging Het
Ptprg T C 14: 12,179,283 (GRCm38) S767P possibly damaging Het
Rabl3 T G 16: 37,377,175 (GRCm39) probably null Het
Rffl T A 11: 82,709,264 (GRCm39) H53L probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rtl1 C T 12: 109,560,355 (GRCm39) V495I possibly damaging Het
Scaf11 A T 15: 96,317,196 (GRCm39) D789E possibly damaging Het
Scn2a T A 2: 65,582,423 (GRCm39) Y1590* probably null Het
Siglech T A 7: 55,421,434 (GRCm39) F190I probably benign Het
Slc22a22 C A 15: 57,117,636 (GRCm39) A302S probably damaging Het
Slc46a3 T A 5: 147,815,954 (GRCm39) T458S probably benign Het
Spta1 G T 1: 174,035,910 (GRCm39) R1072L possibly damaging Het
Tbx5 A G 5: 119,974,988 (GRCm39) T4A probably benign Het
Tdrd5 T C 1: 156,104,143 (GRCm39) R528G probably damaging Het
Tfip11 T C 5: 112,483,529 (GRCm39) V648A possibly damaging Het
Thumpd3 T C 6: 113,043,749 (GRCm39) V388A probably benign Het
Tmem131l C T 3: 83,850,058 (GRCm39) probably null Het
Ttf2 C A 3: 100,855,509 (GRCm39) Q895H possibly damaging Het
Ttn A T 2: 76,720,436 (GRCm39) probably null Het
Vmn2r13 A G 5: 109,306,058 (GRCm39) S507P probably benign Het
Vtn A G 11: 78,391,049 (GRCm39) T210A probably damaging Het
Zfp1010 C A 2: 176,957,195 (GRCm39) C101F probably damaging Het
Znhit2 A G 19: 6,112,091 (GRCm39) T279A 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
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
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
Predicted Primers PCR Primer
(F):5'- TATGTGTGCATGCAAAACACCC -3'
(R):5'- TGCAAACTGATGTGACACCC -3'

Sequencing Primer
(F):5'- ACCAACTTGAACTTGCTGGC -3'
(R):5'- CTTCTTATTTCAGAGGACCGAACTG -3'
Posted On 2014-09-17