Incidental Mutation 'R7037:Dclk1'
ID 546752
Institutional Source Beutler Lab
Gene Symbol Dclk1
Ensembl Gene ENSMUSG00000027797
Gene Name doublecortin-like kinase 1
Synonyms CPG16, Click-I, Dcamkl1, Dcl, 1700113D08Rik, 2810480F11Rik, DCLK
MMRRC Submission 045137-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.693) question?
Stock # R7037 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 55149785-55446489 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55370469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 23 (S23P)
Ref Sequence ENSEMBL: ENSMUSP00000143507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054237] [ENSMUST00000070418] [ENSMUST00000167204] [ENSMUST00000179544] [ENSMUST00000196745] [ENSMUST00000198412] [ENSMUST00000198437] [ENSMUST00000199169] [ENSMUST00000199585] [ENSMUST00000199702] [ENSMUST00000200352]
AlphaFold Q9JLM8
Predicted Effect possibly damaging
Transcript: ENSMUST00000054237
AA Change: S330P

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000050034
Gene: ENSMUSG00000027797
AA Change: S330P

DomainStartEndE-ValueType
DCX 52 143 1.53e-43 SMART
DCX 181 269 2.53e-35 SMART
low complexity region 297 313 N/A INTRINSIC
low complexity region 323 340 N/A INTRINSIC
low complexity region 347 364 N/A INTRINSIC
S_TKc 406 663 1.71e-104 SMART
low complexity region 736 747 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000070418
AA Change: S23P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070292
Gene: ENSMUSG00000027797
AA Change: S23P

DomainStartEndE-ValueType
low complexity region 16 33 N/A INTRINSIC
low complexity region 40 57 N/A INTRINSIC
low complexity region 60 72 N/A INTRINSIC
S_TKc 83 340 1.71e-104 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167204
AA Change: S330P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129334
Gene: ENSMUSG00000027797
AA Change: S330P

DomainStartEndE-ValueType
DCX 52 143 1.53e-43 SMART
DCX 181 269 2.53e-35 SMART
low complexity region 297 313 N/A INTRINSIC
low complexity region 323 340 N/A INTRINSIC
low complexity region 351 363 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179544
Predicted Effect probably benign
Transcript: ENSMUST00000196745
AA Change: S330P

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000143659
Gene: ENSMUSG00000027797
AA Change: S330P

DomainStartEndE-ValueType
DCX 52 143 7.3e-46 SMART
DCX 181 269 1.2e-37 SMART
low complexity region 297 313 N/A INTRINSIC
low complexity region 323 340 N/A INTRINSIC
low complexity region 347 364 N/A INTRINSIC
low complexity region 367 379 N/A INTRINSIC
S_TKc 390 646 8.3e-107 SMART
low complexity region 719 730 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000198412
AA Change: S23P

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142637
Gene: ENSMUSG00000027797
AA Change: S23P

DomainStartEndE-ValueType
low complexity region 16 33 N/A INTRINSIC
low complexity region 40 57 N/A INTRINSIC
low complexity region 60 72 N/A INTRINSIC
S_TKc 83 339 8.1e-107 SMART
low complexity region 412 423 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000198437
AA Change: S23P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143016
Gene: ENSMUSG00000027797
AA Change: S23P

DomainStartEndE-ValueType
low complexity region 16 33 N/A INTRINSIC
low complexity region 40 57 N/A INTRINSIC
S_TKc 99 356 1.71e-104 SMART
low complexity region 429 440 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000199169
AA Change: S23P

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143563
Gene: ENSMUSG00000027797
AA Change: S23P

DomainStartEndE-ValueType
low complexity region 16 33 N/A INTRINSIC
low complexity region 40 57 N/A INTRINSIC
low complexity region 60 72 N/A INTRINSIC
S_TKc 83 340 8.5e-107 SMART
Predicted Effect unknown
Transcript: ENSMUST00000199585
AA Change: S23P
SMART Domains Protein: ENSMUSP00000142698
Gene: ENSMUSG00000027797
AA Change: S23P

DomainStartEndE-ValueType
low complexity region 16 33 N/A INTRINSIC
low complexity region 44 56 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000199702
AA Change: S23P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143507
Gene: ENSMUSG00000027797
AA Change: S23P

DomainStartEndE-ValueType
low complexity region 16 33 N/A INTRINSIC
low complexity region 40 57 N/A INTRINSIC
S_TKc 82 339 8.5e-107 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000200352
AA Change: S23P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142840
Gene: ENSMUSG00000027797
AA Change: S23P

DomainStartEndE-ValueType
low complexity region 16 33 N/A INTRINSIC
low complexity region 40 57 N/A INTRINSIC
low complexity region 60 72 N/A INTRINSIC
S_TKc 83 340 8.3e-107 SMART
Meta Mutation Damage Score 0.1600 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (70/70)
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+/calmodulin-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. The encoded protein is involved in several different cellular processes, including neuronal migration, retrograde transport, neuronal apoptosis and neurogenesis. This gene is up-regulated by brain-derived neurotrophic factor and associated with memory and general cognitive abilities. Multiple transcript variants generated by two alternative promoter usage and alternative splicing have been found, but the biological validity of some variants has not been determined. These variants encode different isoforms, which are differentially expressed and have different kinase activities. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a null allele lack the corpus callosum and hippocampal commissure and show aberrant interhemispheric axonal projections. Mice homozygous for a different null allele have normal gross brain architecture but show axonal and dendritic defects following knockdown of Dcx expression. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted, knock-out(2) Gene trapped(3)

Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A T 7: 119,367,266 (GRCm39) N33I probably damaging Het
Ahnak2 A T 12: 112,740,712 (GRCm39) V314D probably damaging Het
Arl14epl T G 18: 47,065,510 (GRCm39) C92G probably benign Het
Atp6v1h T A 1: 5,220,215 (GRCm39) M423K possibly damaging Het
Baiap3 G A 17: 25,462,814 (GRCm39) R1075C probably benign Het
Baz2b C T 2: 59,764,014 (GRCm39) probably null Het
Bicral T C 17: 47,135,560 (GRCm39) H550R probably benign Het
C1rl A G 6: 124,485,598 (GRCm39) Y323C probably damaging Het
Ccr9 T A 9: 123,609,036 (GRCm39) H239Q possibly damaging Het
Cdh16 T A 8: 105,344,267 (GRCm39) R91* probably null Het
Coro1c A G 5: 113,983,457 (GRCm39) F357S possibly damaging Het
Cpsf4 G A 5: 145,112,939 (GRCm39) R141Q possibly damaging Het
Cryzl2 G A 1: 157,298,318 (GRCm39) V236I probably damaging Het
Cttnbp2 T C 6: 18,435,117 (GRCm39) E247G probably damaging Het
Dbr1 T A 9: 99,458,621 (GRCm39) probably null Het
Dpyd A T 3: 118,692,938 (GRCm39) I361F probably benign Het
Elac2 A G 11: 64,874,537 (GRCm39) E218G probably benign Het
Eml4 T A 17: 83,732,756 (GRCm39) D136E probably benign Het
Foxred1 A T 9: 35,118,844 (GRCm39) S223T probably benign Het
Garin5b G T 7: 4,761,584 (GRCm39) probably benign Het
Gask1a G T 9: 121,794,592 (GRCm39) V249L possibly damaging Het
Gm11595 A G 11: 99,663,474 (GRCm39) C69R unknown Het
Gna14 A T 19: 16,511,128 (GRCm39) H59L Het
H2-Ab1 T A 17: 34,486,963 (GRCm39) I239N probably damaging Het
Ints7 T C 1: 191,351,717 (GRCm39) S809P probably benign Het
Itgb4 T A 11: 115,896,391 (GRCm39) Y1379* probably null Het
Kank1 A G 19: 25,407,705 (GRCm39) D1233G probably damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lrrc66 A T 5: 73,764,504 (GRCm39) D846E probably benign Het
Lyst A G 13: 13,791,251 (GRCm39) H38R probably damaging Het
Mc3r T C 2: 172,091,554 (GRCm39) F259L probably damaging Het
Med25 A G 7: 44,532,206 (GRCm39) Y384H probably damaging Het
Met A T 6: 17,547,127 (GRCm39) probably benign Het
Mmp16 T C 4: 18,116,148 (GRCm39) V584A possibly damaging Het
Mrgprb3 A G 7: 48,292,942 (GRCm39) L203P probably damaging Het
Mus81 A G 19: 5,536,108 (GRCm39) L185P probably damaging Het
Naaa A G 5: 92,424,934 (GRCm39) V75A possibly damaging Het
Obscn T A 11: 58,934,755 (GRCm39) T5292S probably damaging Het
Obscn T C 11: 58,943,430 (GRCm39) S4801G probably damaging Het
Or2ag19 T C 7: 106,444,543 (GRCm39) S242P probably damaging Het
Otof T C 5: 30,538,882 (GRCm39) D1112G probably benign Het
Pals1 T A 12: 78,843,973 (GRCm39) I59N probably damaging Het
Pbx4 A G 8: 70,317,525 (GRCm39) R170G probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Plce1 A T 19: 38,690,461 (GRCm39) D715V probably damaging Het
Pms1 T C 1: 53,246,770 (GRCm39) T311A possibly damaging Het
Popdc2 A G 16: 38,194,629 (GRCm39) D350G probably damaging Het
Prex1 A G 2: 166,429,100 (GRCm39) V661A probably benign Het
Ptbp2 A G 3: 119,545,557 (GRCm39) Y130H probably damaging Het
Rev3l C T 10: 39,727,971 (GRCm39) R2707W probably damaging Het
Rpl37 G A 15: 5,147,185 (GRCm39) R75K probably null Het
Ryr3 T A 2: 112,779,475 (GRCm39) R259* probably null Het
Scai A T 2: 39,080,633 (GRCm39) S8T probably benign Het
Scn4a C A 11: 106,211,726 (GRCm39) L1430F probably damaging Het
Sema5a A G 15: 32,686,993 (GRCm39) K1035R probably damaging Het
Siah3 A G 14: 75,763,025 (GRCm39) H92R probably benign Het
Smc4 G A 3: 68,925,528 (GRCm39) V342I possibly damaging Het
Spata31d1a C T 13: 59,848,138 (GRCm39) C1330Y possibly damaging Het
St18 C A 1: 6,873,260 (GRCm39) H332N possibly damaging Het
Sycp1 T A 3: 102,806,250 (GRCm39) E480D possibly damaging Het
Tex14 A T 11: 87,388,741 (GRCm39) I323F probably damaging Het
Tm7sf2 A T 19: 6,114,107 (GRCm39) probably null Het
Tmem241 G T 18: 12,246,463 (GRCm39) H62Q probably benign Het
Tmem54 T A 4: 129,004,594 (GRCm39) probably null Het
Tomm34 A G 2: 163,912,398 (GRCm39) L39P probably damaging Het
Triml2 T A 8: 43,646,573 (GRCm39) V354D probably damaging Het
Usp19 T C 9: 108,374,157 (GRCm39) I738T possibly damaging Het
Utp25 A C 1: 192,803,031 (GRCm39) probably null Het
Utrn T A 10: 12,702,514 (GRCm39) probably null Het
Zfp1005 G T 2: 150,108,376 (GRCm39) V46F possibly damaging Het
Other mutations in Dclk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Dclk1 APN 3 55,154,707 (GRCm39) missense probably damaging 1.00
IGL02148:Dclk1 APN 3 55,407,520 (GRCm39) missense probably damaging 1.00
IGL02901:Dclk1 APN 3 55,395,208 (GRCm39) splice site probably benign
IGL03086:Dclk1 APN 3 55,154,788 (GRCm39) missense probably damaging 0.96
IGL03213:Dclk1 APN 3 55,387,805 (GRCm39) nonsense probably null
R0037:Dclk1 UTSW 3 55,163,480 (GRCm39) missense probably benign 0.02
R0316:Dclk1 UTSW 3 55,410,313 (GRCm39) missense probably damaging 1.00
R0885:Dclk1 UTSW 3 55,394,728 (GRCm39) missense probably damaging 1.00
R1211:Dclk1 UTSW 3 55,288,244 (GRCm39) missense probably benign 0.05
R1234:Dclk1 UTSW 3 55,397,298 (GRCm39) missense probably damaging 1.00
R1540:Dclk1 UTSW 3 55,385,244 (GRCm39) missense probably damaging 1.00
R1928:Dclk1 UTSW 3 55,154,942 (GRCm39) missense possibly damaging 0.48
R2081:Dclk1 UTSW 3 55,429,346 (GRCm39) critical splice donor site probably null
R2152:Dclk1 UTSW 3 55,154,633 (GRCm39) missense probably damaging 0.97
R2153:Dclk1 UTSW 3 55,154,633 (GRCm39) missense probably damaging 0.97
R2213:Dclk1 UTSW 3 55,387,854 (GRCm39) missense probably damaging 1.00
R3745:Dclk1 UTSW 3 55,154,863 (GRCm39) missense possibly damaging 0.87
R3899:Dclk1 UTSW 3 55,154,750 (GRCm39) missense probably damaging 0.99
R4569:Dclk1 UTSW 3 55,154,831 (GRCm39) missense probably damaging 1.00
R4851:Dclk1 UTSW 3 55,387,811 (GRCm39) missense probably damaging 1.00
R4890:Dclk1 UTSW 3 55,429,353 (GRCm39) missense probably benign
R5105:Dclk1 UTSW 3 55,163,360 (GRCm39) missense probably benign 0.00
R5175:Dclk1 UTSW 3 55,154,648 (GRCm39) missense possibly damaging 0.80
R5364:Dclk1 UTSW 3 55,163,366 (GRCm39) missense possibly damaging 0.95
R5613:Dclk1 UTSW 3 55,424,360 (GRCm39) missense probably benign 0.15
R5819:Dclk1 UTSW 3 55,397,285 (GRCm39) missense probably damaging 0.98
R6113:Dclk1 UTSW 3 55,397,240 (GRCm39) missense probably benign 0.00
R6162:Dclk1 UTSW 3 55,163,575 (GRCm39) missense probably benign 0.02
R6190:Dclk1 UTSW 3 55,395,232 (GRCm39) missense probably damaging 1.00
R6193:Dclk1 UTSW 3 55,424,292 (GRCm39) critical splice acceptor site probably null
R6380:Dclk1 UTSW 3 55,154,615 (GRCm39) missense probably damaging 1.00
R6406:Dclk1 UTSW 3 55,387,827 (GRCm39) missense probably damaging 1.00
R6543:Dclk1 UTSW 3 55,407,552 (GRCm39) missense probably damaging 1.00
R6745:Dclk1 UTSW 3 55,385,229 (GRCm39) missense probably damaging 1.00
R6970:Dclk1 UTSW 3 55,374,022 (GRCm39) intron probably benign
R7086:Dclk1 UTSW 3 55,395,333 (GRCm39) critical splice donor site probably null
R7163:Dclk1 UTSW 3 55,163,549 (GRCm39) nonsense probably null
R7198:Dclk1 UTSW 3 55,385,296 (GRCm39) missense possibly damaging 0.70
R7843:Dclk1 UTSW 3 55,163,298 (GRCm39) missense probably damaging 1.00
R8476:Dclk1 UTSW 3 55,441,100 (GRCm39) missense probably damaging 1.00
R8677:Dclk1 UTSW 3 55,409,840 (GRCm39) missense probably damaging 0.96
R9060:Dclk1 UTSW 3 55,163,575 (GRCm39) missense probably benign 0.02
R9332:Dclk1 UTSW 3 55,370,500 (GRCm39) missense probably damaging 0.98
R9377:Dclk1 UTSW 3 55,429,374 (GRCm39) missense possibly damaging 0.72
R9384:Dclk1 UTSW 3 55,154,936 (GRCm39) missense possibly damaging 0.81
R9569:Dclk1 UTSW 3 55,387,852 (GRCm39) missense probably benign 0.16
R9616:Dclk1 UTSW 3 55,387,854 (GRCm39) missense probably damaging 1.00
R9770:Dclk1 UTSW 3 55,358,492 (GRCm39) missense probably damaging 0.99
Z1088:Dclk1 UTSW 3 55,407,526 (GRCm39) missense probably damaging 1.00
Z1177:Dclk1 UTSW 3 55,163,434 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGTGAGTGTCTGAAGATGGCTATTC -3'
(R):5'- TGATCCACAGCAGGTTACCC -3'

Sequencing Primer
(F):5'- CTGAAGATGGCTATTCCCTAAGGC -3'
(R):5'- ACAGCAGGTTACCCTTGCC -3'
Posted On 2019-05-13