Incidental Mutation 'R2008:Dclk2'
ID 219171
Institutional Source Beutler Lab
Gene Symbol Dclk2
Ensembl Gene ENSMUSG00000028078
Gene Name doublecortin-like kinase 2
Synonyms Dcamkl2, 6330415M09Rik, Click-II
MMRRC Submission 040017-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2008 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 86693458-86828159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86827342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 46 (P46S)
Ref Sequence ENSEMBL: ENSMUSP00000142267 (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: P46S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029719
Gene: ENSMUSG00000028078
AA Change: P46S

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: P46S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141707
Gene: ENSMUSG00000028078
AA Change: P46S

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: P46S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141567
Gene: ENSMUSG00000028078
AA Change: P46S

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: P46S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141866
Gene: ENSMUSG00000028078
AA Change: P46S

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: ENSMUST00000194452
AA Change: P46S

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141816
Gene: ENSMUSG00000028078
AA Change: P46S

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: P46S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142267
Gene: ENSMUSG00000028078
AA Change: P46S

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 0.1082 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 148,026,034 (GRCm39) C185S probably benign Het
Acsbg3 A G 17: 57,193,478 (GRCm39) N608S probably benign Het
Actl6b T A 5: 137,567,592 (GRCm39) S409T probably damaging Het
Adam34l A T 8: 44,080,074 (GRCm39) V50D probably benign Het
Adgrf2 T C 17: 43,021,013 (GRCm39) T604A probably damaging Het
Adprs T A 4: 126,211,137 (GRCm39) D260V probably benign Het
Akap9 A G 5: 4,010,131 (GRCm39) E296G possibly damaging Het
Alg5 A G 3: 54,653,894 (GRCm39) Y210C possibly damaging Het
Aoc1 T C 6: 48,882,831 (GRCm39) W236R probably damaging Het
Atp11b A G 3: 35,909,271 (GRCm39) D1155G probably damaging Het
Atp2c1 T A 9: 105,309,925 (GRCm39) T551S probably benign Het
Atp7b A T 8: 22,517,996 (GRCm39) C281S probably damaging Het
Bmp1 C T 14: 70,729,906 (GRCm39) C466Y probably damaging Het
Cabin1 T C 10: 75,570,810 (GRCm39) probably null Het
Capn9 T G 8: 125,318,424 (GRCm39) C97G probably damaging Het
Cbfa2t3 A G 8: 123,370,032 (GRCm39) V147A probably damaging Het
Ccdc83 T A 7: 89,893,349 (GRCm39) Y136F probably damaging Het
Cdh6 C A 15: 13,051,562 (GRCm39) R357L possibly damaging Het
Celf1 A T 2: 90,840,753 (GRCm39) N367I probably damaging Het
Cep350 T C 1: 155,790,467 (GRCm39) I1363V probably benign Het
Cfap299 C T 5: 98,885,561 (GRCm39) T156I possibly damaging Het
Colec12 T A 18: 9,874,813 (GRCm39) D696E probably benign Het
Ctbp1 C T 5: 33,408,330 (GRCm39) E138K probably damaging Het
Cyp4a10 T C 4: 115,382,589 (GRCm39) I293T probably damaging Het
Dctn1 C T 6: 83,166,938 (GRCm39) T263I probably damaging Het
Ddx49 A T 8: 70,748,094 (GRCm39) V317E probably damaging Het
Edil3 G A 13: 89,093,072 (GRCm39) probably null Het
Egflam A T 15: 7,267,285 (GRCm39) V700E possibly damaging Het
Fam168b A G 1: 34,858,946 (GRCm39) probably null Het
Gigyf2 T G 1: 87,301,835 (GRCm39) probably null Het
H1f2 C G 13: 23,923,392 (GRCm39) S187R probably benign Het
Heatr4 A G 12: 84,026,514 (GRCm39) S248P probably benign Het
Hoxd1 A T 2: 74,594,524 (GRCm39) I260F possibly damaging Het
Hsd3b3 A T 3: 98,649,408 (GRCm39) L305Q probably damaging Het
Itch T A 2: 155,052,379 (GRCm39) C660S possibly damaging Het
Ivd A T 2: 118,701,981 (GRCm39) I138F probably benign Het
Katnip C G 7: 125,459,738 (GRCm39) H1189D probably damaging Het
Lcn4 G T 2: 26,561,228 (GRCm39) Q18K possibly damaging Het
Mapkbp1 T C 2: 119,843,146 (GRCm39) Y192H probably damaging Het
Mn1 T C 5: 111,566,723 (GRCm39) L231P probably damaging Het
Morc1 A G 16: 48,386,009 (GRCm39) D544G probably benign Het
Mthfd1 C A 12: 76,344,293 (GRCm39) T331K probably damaging Het
Myo18b T A 5: 113,021,423 (GRCm39) Y546F probably benign Het
Nod1 T C 6: 54,916,310 (GRCm39) Y129C probably damaging Het
Nprl3 A G 11: 32,182,973 (GRCm39) V563A probably damaging Het
Or13a18 T C 7: 140,190,498 (GRCm39) Y140H probably damaging Het
Or4a80 A T 2: 89,582,417 (GRCm39) C252S possibly damaging Het
Or5g29 A G 2: 85,421,766 (GRCm39) N294S probably damaging Het
Or5p72 T C 7: 108,022,389 (GRCm39) F204L probably benign Het
Or8b1b T C 9: 38,375,537 (GRCm39) S67P probably damaging Het
Orc3 T A 4: 34,611,049 (GRCm39) probably null Het
Otog T C 7: 45,913,498 (GRCm39) V777A probably benign Het
Pbxip1 G T 3: 89,356,020 (GRCm39) V711L probably benign Het
Pcdhb16 A G 18: 37,611,316 (GRCm39) D92G probably damaging Het
Phkb T A 8: 86,783,096 (GRCm39) M964K probably damaging Het
Pitpnm2 T A 5: 124,290,684 (GRCm39) M1L probably damaging Het
Pkhd1 A G 1: 20,269,683 (GRCm39) V3287A probably damaging Het
Polq T A 16: 36,882,844 (GRCm39) H1669Q probably damaging Het
Ppp4r4 T C 12: 103,552,016 (GRCm39) S195P probably damaging Het
Prdm2 T C 4: 142,861,517 (GRCm39) Y591C probably damaging Het
Rgsl1 T A 1: 153,701,651 (GRCm39) T268S possibly damaging Het
Scd2 A T 19: 44,291,610 (GRCm39) T350S probably benign Het
Scn7a T A 2: 66,518,091 (GRCm39) Q1040L possibly damaging Het
Sdhb T A 4: 140,706,340 (GRCm39) L259Q probably damaging Het
Senp6 A G 9: 80,033,680 (GRCm39) H701R probably damaging Het
Slc41a2 C T 10: 83,140,167 (GRCm39) probably null Het
Slx4 T C 16: 3,797,785 (GRCm39) D1533G probably damaging Het
Spef2 T C 15: 9,713,271 (GRCm39) K367R possibly damaging Het
Sstr3 G A 15: 78,424,711 (GRCm39) T12M probably benign Het
Synj2 G T 17: 6,047,221 (GRCm39) E20D probably damaging Het
Tchh G T 3: 93,353,281 (GRCm39) R907L unknown Het
Thsd1 A G 8: 22,749,247 (GRCm39) E645G probably benign Het
Tmem176b A T 6: 48,812,383 (GRCm39) M194K probably damaging Het
Tmprss11f T C 5: 86,739,265 (GRCm39) probably null Het
Trim44 G A 2: 102,230,722 (GRCm39) probably benign Het
Triml1 T A 8: 43,583,642 (GRCm39) R320W probably damaging Het
Trmt6 A T 2: 132,648,829 (GRCm39) C401* probably null Het
Trpv5 T C 6: 41,636,662 (GRCm39) probably null Het
V1rd19 T A 7: 23,702,726 (GRCm39) L64* probably null Het
Vmn1r216 A T 13: 23,283,661 (GRCm39) R115W probably damaging Het
Vmn2r58 T C 7: 41,509,924 (GRCm39) N551S probably damaging Het
Vmn2r77 T C 7: 86,450,921 (GRCm39) V269A probably benign Het
Vps13d A T 4: 144,881,813 (GRCm39) V1254D probably benign Het
Xpr1 T C 1: 155,156,775 (GRCm39) probably null Het
Zan T A 5: 137,450,712 (GRCm39) T1622S unknown Het
Zfp112 T C 7: 23,826,176 (GRCm39) Y715H probably damaging Het
Zfp750 G A 11: 121,403,951 (GRCm39) P308L possibly 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
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
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'- TCTATGAGGAGCGCATCGAAGG -3'
(R):5'- TGTCCCGCTGCTTTAAGAC -3'

Sequencing Primer
(F):5'- CGCATCGAAGGAACGGAAAC -3'
(R):5'- CGCTGCTTTAAGACGGGAC -3'
Posted On 2014-08-25