Incidental Mutation 'R1569:Dclk2'
ID 177098
Institutional Source Beutler Lab
Gene Symbol Dclk2
Ensembl Gene ENSMUSG00000028078
Gene Name doublecortin-like kinase 2
Synonyms Dcamkl2, 6330415M09Rik, Click-II
MMRRC Submission 039608-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1569 (G1)
Quality Score 211
Status 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: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.3%
Validation Efficiency 96% (72/75)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,427 (GRCm39) K166* probably null Het
Abca2 T A 2: 25,329,197 (GRCm39) N1012K probably benign Het
Ahnak T C 19: 8,981,458 (GRCm39) V914A possibly damaging Het
Akap1 T A 11: 88,724,006 (GRCm39) M833L probably benign Het
Atp2b1 T A 10: 98,823,188 (GRCm39) H249Q probably benign Het
Atp6v0a4 A G 6: 38,027,560 (GRCm39) V750A probably damaging Het
Car6 T C 4: 150,285,499 (GRCm39) Y23C probably damaging Het
Celsr3 A G 9: 108,706,267 (GRCm39) T917A probably damaging Het
Clmn C A 12: 104,747,340 (GRCm39) D736Y probably damaging Het
Dennd4c G A 4: 86,704,331 (GRCm39) R282H possibly damaging Het
Dsg1b T A 18: 20,529,537 (GRCm39) N327K probably damaging Het
Eftud2 A T 11: 102,745,597 (GRCm39) probably benign Het
Esyt1 G T 10: 128,354,863 (GRCm39) S512R possibly damaging Het
Fam124b T C 1: 80,190,852 (GRCm39) Y177C possibly damaging Het
Fbxl5 A T 5: 43,922,803 (GRCm39) I205K probably damaging Het
Fcrl1 A G 3: 87,292,012 (GRCm39) Y57C probably damaging Het
Gabpb1 A T 2: 126,494,171 (GRCm39) D151E probably benign Het
Gcc2 C T 10: 58,105,993 (GRCm39) L310F probably benign Het
Hsd11b1 C G 1: 192,922,635 (GRCm39) E141Q probably damaging Het
Htr1b A G 9: 81,514,340 (GRCm39) V89A probably benign Het
Ibsp A T 5: 104,458,017 (GRCm39) T185S probably damaging Het
Igfn1 T C 1: 135,896,771 (GRCm39) D1265G probably benign Het
Ints9 T C 14: 65,217,571 (GRCm39) Y33H possibly damaging Het
Kif1a A T 1: 92,986,532 (GRCm39) probably benign Het
Lama1 A T 17: 68,087,613 (GRCm39) probably null Het
Lbp A T 2: 158,161,607 (GRCm39) D223V probably damaging Het
Lck C A 4: 129,449,449 (GRCm39) D283Y probably damaging Het
Lcmt2 A G 2: 120,970,309 (GRCm39) F258S probably damaging Het
Lsg1 G T 16: 30,399,823 (GRCm39) probably null Het
Maip1 T C 1: 57,452,554 (GRCm39) probably benign Het
Mark3 T G 12: 111,600,180 (GRCm39) I465S probably benign Het
Marveld2 C T 13: 100,737,506 (GRCm39) V128I probably benign Het
Mcm3ap A G 10: 76,319,022 (GRCm39) H750R possibly damaging Het
Mdn1 A T 4: 32,723,501 (GRCm39) Q2479L probably null Het
Met A T 6: 17,531,503 (GRCm39) K594* probably null Het
Pak2 G T 16: 31,856,113 (GRCm39) S241R probably damaging Het
Plxna4 T C 6: 32,162,410 (GRCm39) I1368V possibly damaging Het
Pparg T C 6: 115,416,960 (GRCm39) I51T probably benign Het
Ppp1r18 A G 17: 36,179,595 (GRCm39) E62G probably damaging Het
Prkag2 T C 5: 25,152,475 (GRCm39) S86G possibly damaging Het
Rabgap1l A T 1: 160,529,960 (GRCm39) I347K probably benign Het
Rdh1 A T 10: 127,598,941 (GRCm39) M141L probably benign Het
Rfx2 A T 17: 57,111,326 (GRCm39) I82N possibly damaging Het
Sh2b2 G A 5: 136,260,589 (GRCm39) A209V possibly damaging Het
Sh3d19 G A 3: 86,033,951 (GRCm39) R768H possibly damaging Het
Sh3rf1 C T 8: 61,837,896 (GRCm39) P814S probably damaging Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Slc15a2 T C 16: 36,576,745 (GRCm39) T430A probably benign Het
Slc17a3 A T 13: 24,039,591 (GRCm39) I250F probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spg11 A G 2: 121,932,187 (GRCm39) S552P probably damaging Het
Srpk2 A G 5: 23,719,024 (GRCm39) I597T probably damaging Het
St6galnac1 T G 11: 116,660,097 (GRCm39) N72T possibly damaging Het
Tecpr2 T A 12: 110,911,321 (GRCm39) probably null Het
Tmem208 T A 8: 106,061,462 (GRCm39) C163S possibly damaging Het
Tpte T C 8: 22,835,047 (GRCm39) V401A probably damaging Het
Trhde A G 10: 114,282,093 (GRCm39) W795R possibly damaging Het
Trpm3 G A 19: 22,866,809 (GRCm39) probably null Het
Ttn T A 2: 76,626,063 (GRCm39) T14999S possibly damaging Het
Txndc2 A T 17: 65,945,921 (GRCm39) N85K probably benign Het
Yes1 A G 5: 32,810,507 (GRCm39) Y192C probably damaging Het
Zan A G 5: 137,427,392 (GRCm39) V2415A unknown Het
Zfp410 T A 12: 84,379,726 (GRCm39) C311S probably damaging Het
Zfp51 A T 17: 21,676,642 (GRCm39) M38L probably benign Het
Zfp560 A T 9: 20,260,011 (GRCm39) C284S possibly damaging Het
Zfp808 C T 13: 62,320,714 (GRCm39) R648* probably null Het
Zfp976 G T 7: 42,262,806 (GRCm39) H344N probably 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
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
Predicted Primers PCR Primer
(F):5'- ACGTATGCACTGATTCAAGATGCCC -3'
(R):5'- TCTGCAAACTGATGTGACACCCTTC -3'

Sequencing Primer
(F):5'- CACTGATTCAAGATGCCCATTAGG -3'
(R):5'- CTTCTTATTTCAGAGGACCGAACTG -3'
Posted On 2014-04-24