Incidental Mutation 'R8927:Dclk2'
ID 690129
Institutional Source Beutler Lab
Gene Symbol Dclk2
Ensembl Gene ENSMUSG00000028078
Gene Name doublecortin-like kinase 2
Synonyms Dcamkl2, 6330415M09Rik, Click-II
MMRRC Submission 068771-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8927 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 86693458-86828159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 86739048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 317 (P317Q)
Ref Sequence ENSEMBL: ENSMUSP00000029719 (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: P317Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029719
Gene: ENSMUSG00000028078
AA Change: P317Q

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: P317Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141707
Gene: ENSMUSG00000028078
AA Change: P317Q

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: P317Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141567
Gene: ENSMUSG00000028078
AA Change: P317Q

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: P317Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141866
Gene: ENSMUSG00000028078
AA Change: P317Q

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: P317Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141816
Gene: ENSMUSG00000028078
AA Change: P317Q

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: P317Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142267
Gene: ENSMUSG00000028078
AA Change: P317Q

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (78/79)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630089N07Rik A T 16: 97,867,367 (GRCm39) H198Q probably damaging Het
Abcb9 T C 5: 124,221,706 (GRCm39) T223A probably benign Het
Actc1 T A 2: 113,880,881 (GRCm39) K115* probably null Het
Angptl2 G A 2: 33,132,316 (GRCm39) D308N probably benign Het
Arl4d A C 11: 101,557,892 (GRCm39) Q139H possibly damaging Het
Aspm T A 1: 139,418,125 (GRCm39) C2951* probably null Het
Atp23 A T 10: 126,723,362 (GRCm39) *247R probably null Het
B3gnt7 T A 1: 86,232,839 (GRCm39) S28R probably benign Het
Bmp7 C T 2: 172,721,211 (GRCm39) R288H probably damaging Het
Bsdc1 G T 4: 129,355,439 (GRCm39) probably benign Het
Capn13 T C 17: 73,631,761 (GRCm39) probably null Het
Ccdc146 T C 5: 21,538,060 (GRCm39) E88G probably damaging Het
Ccdc73 C A 2: 104,822,542 (GRCm39) D2E Het
Cdc5l C A 17: 45,721,839 (GRCm39) R477L Het
Cdh22 T A 2: 164,965,504 (GRCm39) H529L possibly damaging Het
Chchd3 T A 6: 32,780,951 (GRCm39) E178D probably benign Het
Ciz1 A T 2: 32,257,512 (GRCm39) R186* probably null Het
Col4a2 A G 8: 11,475,543 (GRCm39) probably null Het
Copa T A 1: 171,931,737 (GRCm39) H329Q probably null Het
Dcaf7 A G 11: 105,942,752 (GRCm39) D233G probably damaging Het
Dgat2 T C 7: 98,818,710 (GRCm39) Y90C probably benign Het
Dsc3 A T 18: 20,107,234 (GRCm39) H462Q probably benign Het
Fam151a T A 4: 106,603,242 (GRCm39) probably benign Het
Fn1 T C 1: 71,638,535 (GRCm39) N1998S probably benign Het
Fpr2 T C 17: 18,113,724 (GRCm39) L240S possibly damaging Het
Fzd9 A T 5: 135,278,589 (GRCm39) M432K probably damaging Het
Gm5862 T A 5: 26,226,678 (GRCm39) I75F probably damaging Het
Gpr45 T A 1: 43,072,314 (GRCm39) V319D probably damaging Het
H4c11 T C 13: 21,919,525 (GRCm39) V87A possibly damaging Het
Igfn1 T A 1: 135,905,984 (GRCm39) R275W probably damaging Het
Inafm1 G A 7: 16,006,980 (GRCm39) A79V unknown Het
Itfg1 C T 8: 86,567,420 (GRCm39) probably benign Het
Kcnt2 T A 1: 140,356,535 (GRCm39) probably null Het
Klhl35 T G 7: 99,120,221 (GRCm39) I366S probably damaging Het
Lysmd1 A T 3: 95,045,831 (GRCm39) I223F probably damaging Het
Mrps30 A G 13: 118,523,205 (GRCm39) L189P probably damaging Het
Ms4a4d A C 19: 11,533,574 (GRCm39) T152P probably benign Het
Mtcl1 A T 17: 66,755,628 (GRCm39) I238K probably benign Het
Musk T C 4: 58,301,638 (GRCm39) I132T probably damaging Het
Myh2 A T 11: 67,079,509 (GRCm39) M989L probably benign Het
Myh8 G A 11: 67,174,081 (GRCm39) R172H probably benign Het
Nt5c1a C T 4: 123,102,281 (GRCm39) T69M possibly damaging Het
Nuak2 T A 1: 132,255,916 (GRCm39) D196E probably damaging Het
Or52h7 A T 7: 104,214,229 (GRCm39) H267L probably damaging Het
Or5ap2 A T 2: 85,679,918 (GRCm39) I41F possibly damaging Het
Or5t7 T C 2: 86,507,630 (GRCm39) T16A probably benign Het
Or8k53 T C 2: 86,178,090 (GRCm39) T7A possibly damaging Het
Or8s10 A G 15: 98,336,519 (GRCm39) probably benign Het
Palb2 A T 7: 121,723,821 (GRCm39) C643S probably damaging Het
Pde5a T A 3: 122,633,249 (GRCm39) I706N probably damaging Het
Pdlim4 T C 11: 53,950,790 (GRCm39) R100G probably benign Het
Pip5k1c T A 10: 81,128,906 (GRCm39) V5E possibly damaging Het
Pira1 A C 7: 3,742,358 (GRCm39) N56K probably benign Het
Plekhm1 A G 11: 103,268,039 (GRCm39) V644A probably benign Het
Plk2 T G 13: 110,535,750 (GRCm39) V524G probably damaging Het
Ppl T A 16: 4,905,474 (GRCm39) N1607I probably benign Het
Prag1 T G 8: 36,614,360 (GRCm39) V1304G probably damaging Het
Prex1 C T 2: 166,426,995 (GRCm39) V1077M probably damaging Het
Prmt6 T C 3: 110,158,248 (GRCm39) S14G probably benign Het
Psrc1 T G 3: 108,293,973 (GRCm39) S263R probably damaging Het
Qrfprl C A 6: 65,358,597 (GRCm39) S107* probably null Het
Rbp7 A T 4: 149,537,958 (GRCm39) L36* probably null Het
Rgs12 G T 5: 35,123,633 (GRCm39) W472L possibly damaging Het
Rrp8 C A 7: 105,384,073 (GRCm39) C143F possibly damaging Het
Sart1 T C 19: 5,438,529 (GRCm39) S43G probably benign Het
Setx A G 2: 29,016,971 (GRCm39) T25A possibly damaging Het
Skint5 G A 4: 113,341,099 (GRCm39) T1414I probably benign Het
Sorbs2 T A 8: 46,248,952 (GRCm39) S734R probably damaging Het
Spata31g1 A T 4: 42,972,251 (GRCm39) Y528F probably benign Het
Spon1 T C 7: 113,629,592 (GRCm39) probably null Het
Sptbn1 C T 11: 30,088,962 (GRCm39) V767I probably damaging Het
Srf T C 17: 46,860,095 (GRCm39) I477V probably damaging Het
Tanc2 A G 11: 105,701,331 (GRCm39) Y282C probably damaging Het
Tbc1d23 A G 16: 56,992,152 (GRCm39) Y603H probably damaging Het
Tdpoz6 T A 3: 93,599,950 (GRCm39) T140S probably benign Het
Tfap4 T C 16: 4,369,218 (GRCm39) D134G probably damaging Het
Tmem200c A G 17: 69,148,733 (GRCm39) T439A probably benign Het
Tmem63b A T 17: 45,975,908 (GRCm39) M515K probably damaging Het
Tnc A T 4: 63,925,595 (GRCm39) N980K probably damaging Het
Ttc23l T A 15: 10,530,720 (GRCm39) L297F probably damaging Het
Vinac1 A G 2: 128,882,789 (GRCm39) S76P Het
Vmn1r170 A G 7: 23,305,814 (GRCm39) N72S possibly damaging Het
Vmn2r8 T C 5: 108,950,131 (GRCm39) M239V Het
Vopp1 A G 6: 57,731,578 (GRCm39) F138L probably damaging Het
Vps41 T A 13: 18,929,501 (GRCm39) F79I probably benign Het
Zfp317 T C 9: 19,552,521 (GRCm39) M1T probably null 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
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
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'- TGTGTAGTACTTTTATGTGCACACC -3'
(R):5'- CTAGCTATAGTCACGTGTGGTATG -3'

Sequencing Primer
(F):5'- CACCAGTGTAAGACCAGACAGTG -3'
(R):5'- GTTTGATCACCGCTAAGATCTG -3'
Posted On 2021-11-19