Incidental Mutation 'R5976:Dclk2'
ID 471743
Institutional Source Beutler Lab
Gene Symbol Dclk2
Ensembl Gene ENSMUSG00000028078
Gene Name doublecortin-like kinase 2
Synonyms Dcamkl2, 6330415M09Rik, Click-II
MMRRC Submission 044158-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5976 (G1)
Quality Score 143
Status Not validated
Chromosome 3
Chromosomal Location 86693458-86828159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 86694532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 752 (R752L)
Ref Sequence ENSEMBL: ENSMUSP00000142267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029719] [ENSMUST00000107635] [ENSMUST00000191752] [ENSMUST00000192773] [ENSMUST00000193632] [ENSMUST00000195561] [ENSMUST00000195524]
AlphaFold Q6PGN3
Predicted Effect possibly damaging
Transcript: ENSMUST00000029719
AA Change: R753L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029719
Gene: ENSMUSG00000028078
AA Change: R753L

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: ENSMUST00000107635
SMART Domains Protein: ENSMUSP00000103261
Gene: ENSMUSG00000028080

DomainStartEndE-ValueType
low complexity region 12 31 N/A INTRINSIC
Pfam:Laminin_G_3 211 377 4.6e-13 PFAM
Pfam:DUF4704 446 717 2.5e-109 PFAM
coiled coil region 1019 1037 N/A INTRINSIC
low complexity region 1073 1089 N/A INTRINSIC
low complexity region 1100 1113 N/A INTRINSIC
low complexity region 1585 1600 N/A INTRINSIC
low complexity region 1614 1630 N/A INTRINSIC
low complexity region 1698 1713 N/A INTRINSIC
low complexity region 1738 1757 N/A INTRINSIC
low complexity region 1848 1861 N/A INTRINSIC
Pfam:DUF1088 1882 2049 7e-88 PFAM
Pfam:PH_BEACH 2075 2172 9.1e-31 PFAM
Beach 2203 2480 2.87e-207 SMART
WD40 2578 2615 7.4e0 SMART
WD40 2618 2661 1.72e0 SMART
WD40 2677 2716 3.99e-1 SMART
WD40 2760 2798 1.79e-1 SMART
WD40 2801 2840 4.28e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191752
SMART Domains Protein: ENSMUSP00000141707
Gene: ENSMUSG00000028078

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 noncoding transcript
Transcript: ENSMUST00000192260
Predicted Effect probably benign
Transcript: ENSMUST00000192773
SMART Domains Protein: ENSMUSP00000141567
Gene: ENSMUSG00000028078

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 noncoding transcript
Transcript: ENSMUST00000193400
Predicted Effect probably benign
Transcript: ENSMUST00000193632
SMART Domains Protein: ENSMUSP00000141866
Gene: ENSMUSG00000028078

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 possibly damaging
Transcript: ENSMUST00000195561
AA Change: R752L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142267
Gene: ENSMUSG00000028078
AA Change: R752L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193769
Predicted Effect probably benign
Transcript: ENSMUST00000195524
SMART Domains Protein: ENSMUSP00000141734
Gene: ENSMUSG00000028080

DomainStartEndE-ValueType
Pfam:PH_BEACH 3 76 3.6e-20 PFAM
Beach 107 384 2.87e-207 SMART
WD40 482 519 7.4e0 SMART
WD40 522 565 1.72e0 SMART
WD40 581 620 3.99e-1 SMART
WD40 664 702 1.79e-1 SMART
WD40 705 744 4.28e0 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankar T C 1: 72,682,450 (GRCm39) T1154A probably benign Het
Ankrd26 A T 6: 118,494,855 (GRCm39) probably null Het
Arih2 A T 9: 108,485,172 (GRCm39) *54R probably null Het
AW146154 T G 7: 41,129,721 (GRCm39) K465T probably damaging Het
Bend3 A G 10: 43,386,540 (GRCm39) Y311C probably benign Het
Bltp2 G A 11: 78,174,955 (GRCm39) A1697T probably benign Het
Ccdc110 A T 8: 46,396,536 (GRCm39) Y809F possibly damaging Het
Ccnh C T 13: 85,338,982 (GRCm39) P76L probably damaging Het
Chaf1a T A 17: 56,371,115 (GRCm39) C667S probably damaging Het
Clca3a1 A T 3: 144,452,636 (GRCm39) Y616N probably damaging Het
Cldn4 A G 5: 134,975,410 (GRCm39) C64R probably damaging Het
Crybg2 TGGAGGAGGAGGAGGAGGAG TGGAGGAGGAGGAGGAG 4: 133,801,837 (GRCm39) probably benign Het
Dzank1 C A 2: 144,343,409 (GRCm39) G318W probably damaging Het
Edem1 T A 6: 108,819,923 (GRCm39) I236K probably damaging Het
Eif4e1b T C 13: 54,932,635 (GRCm39) F75L probably damaging Het
Elmo3 A G 8: 106,034,279 (GRCm39) Y266C probably damaging Het
Enpep A G 3: 129,092,773 (GRCm39) S509P probably damaging Het
Exoc8 A G 8: 125,623,392 (GRCm39) M325T probably benign Het
Fah A G 7: 84,243,949 (GRCm39) M270T probably benign Het
Gabbr1 T C 17: 37,378,754 (GRCm39) L532P probably damaging Het
Gm10770 T A 2: 150,021,320 (GRCm39) K66* probably null Het
Gprc5c A T 11: 114,755,313 (GRCm39) Q330L possibly damaging Het
Grin3a T A 4: 49,792,602 (GRCm39) H377L probably damaging Het
Hipk3 T C 2: 104,301,529 (GRCm39) E221G probably damaging Het
Hsd17b6 T A 10: 127,827,308 (GRCm39) M255L probably benign Het
Ighv1-7 T A 12: 114,502,379 (GRCm39) E29D probably benign Het
Ing3 T A 6: 21,971,173 (GRCm39) S326T probably benign Het
Ipo7 T C 7: 109,648,014 (GRCm39) L632P probably damaging Het
Kdm6b A G 11: 69,294,614 (GRCm39) probably null Het
Kif21a T G 15: 90,820,015 (GRCm39) D1583A probably damaging Het
Lama2 C T 10: 27,066,672 (GRCm39) V1070I probably benign Het
Lrp1 A T 10: 127,419,770 (GRCm39) S946R probably damaging Het
Lrrc37a A G 11: 103,389,897 (GRCm39) S1843P possibly damaging Het
Ltbp1 T C 17: 75,597,078 (GRCm39) Y517H probably damaging Het
Map2k4 T A 11: 65,600,778 (GRCm39) N51I probably benign Het
Mfsd2b G T 12: 4,916,522 (GRCm39) A216D probably damaging Het
Nbea T C 3: 55,761,268 (GRCm39) T2025A probably benign Het
Neb A G 2: 52,106,928 (GRCm39) V4162A possibly damaging Het
Nr3c1 A T 18: 39,554,602 (GRCm39) F599I probably damaging Het
Nsun2 T G 13: 69,771,271 (GRCm39) probably null Het
Or10ab4 T A 7: 107,655,005 (GRCm39) M272K possibly damaging Het
Or8b37 G T 9: 37,958,997 (GRCm39) V160F possibly damaging Het
Otoa T A 7: 120,726,936 (GRCm39) W524R probably benign Het
Paip1 T A 13: 119,593,533 (GRCm39) D182E probably damaging Het
Pde1a G A 2: 79,698,586 (GRCm39) Q415* probably null Het
Pfkfb2 T A 1: 130,635,816 (GRCm39) K72* probably null Het
Pigg A G 5: 108,480,057 (GRCm39) E444G probably null Het
Plec T C 15: 76,073,237 (GRCm39) Y669C probably damaging Het
Ptp4a3 T C 15: 73,627,885 (GRCm39) V94A possibly damaging Het
Ptprg A G 14: 12,211,625 (GRCm38) E969G probably damaging Het
R3hcc1l T A 19: 42,551,789 (GRCm39) V262E probably benign Het
Ranbp3l T G 15: 9,030,916 (GRCm39) F65C possibly damaging Het
Rbm19 T A 5: 120,278,372 (GRCm39) S718R probably benign Het
Recql4 C A 15: 76,593,624 (GRCm39) R162L probably benign Het
Rest T C 5: 77,416,119 (GRCm39) L111P probably benign Het
Rgma T C 7: 73,059,216 (GRCm39) S13P probably damaging Het
Rogdi T A 16: 4,831,175 (GRCm39) I31F probably benign Het
Serpinb9e T A 13: 33,439,112 (GRCm39) D179E probably benign Het
Slc1a5 T C 7: 16,529,807 (GRCm39) C409R probably damaging Het
Slc25a38 A G 9: 119,945,613 (GRCm39) T38A probably damaging Het
Spag17 C T 3: 100,003,107 (GRCm39) Q1897* probably null Het
St7 C A 6: 17,694,221 (GRCm39) A4E possibly damaging Het
Tbcel T A 9: 42,350,499 (GRCm39) I263F possibly damaging Het
Tmtc3 A G 10: 100,312,534 (GRCm39) V103A probably benign Het
Tnc G A 4: 63,936,403 (GRCm39) P178S probably benign Het
Vwf A G 6: 125,580,426 (GRCm39) D558G Het
Zfp541 A G 7: 15,810,344 (GRCm39) K127R 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
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
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'- CAGAGCCCAAAGTGCATGAG -3'
(R):5'- CCAGAACACGGCTCTAGATAAAGAG -3'

Sequencing Primer
(F):5'- ATGAGGCCATGCTGCACAC -3'
(R):5'- CTCTAGATAAAGAGGGGCAGATTTTC -3'
Posted On 2017-03-31