Incidental Mutation 'R1680:Dclk2'
ID 188394
Institutional Source Beutler Lab
Gene Symbol Dclk2
Ensembl Gene ENSMUSG00000028078
Gene Name doublecortin-like kinase 2
Synonyms Dcamkl2, 6330415M09Rik, Click-II
MMRRC Submission 039716-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1680 (G1)
Quality Score 225
Status Not 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: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik C G 10: 100,439,390 (GRCm39) P187R probably damaging Het
Ahnak T A 19: 8,987,327 (GRCm39) H2870Q probably benign Het
Arhgef33 C T 17: 80,655,080 (GRCm39) S95F probably damaging Het
Atp1a2 T A 1: 172,106,521 (GRCm39) D827V probably damaging Het
Bcat1 T G 6: 144,985,354 (GRCm39) D96A probably damaging Het
Birc6 A T 17: 74,855,741 (GRCm39) I184L probably benign Het
Clca3b A T 3: 144,543,585 (GRCm39) L415M probably damaging Het
Clstn1 T C 4: 149,728,183 (GRCm39) V617A probably benign Het
Col22a1 G A 15: 71,671,210 (GRCm39) A1050V unknown Het
Col5a3 C T 9: 20,695,964 (GRCm39) probably null Het
Csmd3 G A 15: 47,604,566 (GRCm39) T1059I probably damaging Het
Dnm3 A G 1: 161,838,545 (GRCm39) V272A probably benign Het
Dnmt3a A G 12: 3,923,361 (GRCm39) Q187R probably damaging Het
Dpp9 A G 17: 56,497,103 (GRCm39) Y710H probably benign Het
Eef1a2 A T 2: 180,794,734 (GRCm39) M155K possibly damaging Het
Entpd8 G A 2: 24,974,036 (GRCm39) C331Y probably damaging Het
Erc1 A C 6: 119,552,722 (GRCm39) L1072R probably damaging Het
Fhip2b T C 14: 70,824,291 (GRCm39) Y482C probably damaging Het
Gtf3c2 A G 5: 31,331,212 (GRCm39) S155P probably damaging Het
Gucy2c A G 6: 136,699,491 (GRCm39) S617P probably damaging Het
Ice1 T C 13: 70,753,567 (GRCm39) R840G probably benign Het
Il1rl2 T C 1: 40,390,953 (GRCm39) Y299H possibly damaging Het
Ints7 T G 1: 191,353,274 (GRCm39) probably null Het
Ireb2 C T 9: 54,788,802 (GRCm39) T92I probably damaging Het
Itprid1 C T 6: 55,945,751 (GRCm39) T824I probably damaging Het
Kcnj8 A T 6: 142,515,915 (GRCm39) L64* probably null Het
Mapk8ip3 A G 17: 25,119,985 (GRCm39) V983A probably damaging Het
Mertk A G 2: 128,643,556 (GRCm39) D985G probably benign Het
Mical3 A T 6: 120,936,604 (GRCm39) S1307R probably benign Het
Mtcl3 A T 10: 29,072,835 (GRCm39) Q709L probably damaging Het
Ncaph2 A G 15: 89,248,825 (GRCm39) D222G probably benign Het
Nf1 C A 11: 79,441,824 (GRCm39) S295* probably null Het
Nlrp12 T A 7: 3,289,804 (GRCm39) D236V probably damaging Het
Npnt A G 3: 132,612,563 (GRCm39) V74A probably benign Het
Oasl1 A G 5: 115,074,003 (GRCm39) D304G probably damaging Het
Or52i2 A G 7: 102,319,940 (GRCm39) D271G possibly damaging Het
Or7g12 A G 9: 18,899,812 (GRCm39) H176R possibly damaging Het
Or8g22 T C 9: 38,958,296 (GRCm39) I140V probably benign Het
Or8h8 C T 2: 86,753,505 (GRCm39) V124I probably benign Het
Patz1 A G 11: 3,257,812 (GRCm39) K604E probably damaging Het
Pcsk6 T A 7: 65,684,998 (GRCm39) V793E probably benign Het
Pla2g4d C T 2: 120,108,231 (GRCm39) probably null Het
Plxnc1 A C 10: 94,677,413 (GRCm39) L938R probably benign Het
Pou4f2 G T 8: 79,161,460 (GRCm39) A381D probably damaging Het
Prdm4 A G 10: 85,735,087 (GRCm39) L685P possibly damaging Het
Pxn T A 5: 115,690,206 (GRCm39) V383E probably damaging Het
Rbl1 A G 2: 157,016,703 (GRCm39) L632P probably damaging Het
Rnf135 T A 11: 80,087,707 (GRCm39) S219T possibly damaging Het
Sdk2 T C 11: 113,682,262 (GRCm39) D2039G possibly damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Slc5a6 A G 5: 31,199,988 (GRCm39) Y131H probably damaging Het
Slc9a1 T C 4: 133,145,391 (GRCm39) I492T probably damaging Het
Spag5 A G 11: 78,211,442 (GRCm39) K993E probably damaging Het
Sptbn1 T G 11: 30,109,371 (GRCm39) I75L possibly damaging Het
Syngap1 T C 17: 27,171,553 (GRCm39) S46P possibly damaging Het
Tfcp2l1 T A 1: 118,603,335 (GRCm39) F458I probably damaging Het
Tmem67 A G 4: 12,087,840 (GRCm39) V102A probably benign Het
Tomm70a T C 16: 56,942,324 (GRCm39) S34P unknown Het
Txlnb G T 10: 17,718,981 (GRCm39) G604V probably benign Het
Ube2q1 A G 3: 89,683,483 (GRCm39) T143A probably benign Het
Unc80 C T 1: 66,542,828 (GRCm39) R361* probably null Het
Vcan T C 13: 89,851,666 (GRCm39) D1098G probably benign Het
Vmn1r176 T A 7: 23,534,806 (GRCm39) T116S probably damaging Het
Wdr81 C T 11: 75,345,249 (GRCm39) R6K probably benign Het
Zan T A 5: 137,401,312 (GRCm39) T4136S unknown Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp606 A T 7: 12,227,898 (GRCm39) H615L probably damaging Het
Zp3r A T 1: 130,510,617 (GRCm39) N433K 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
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'- TCTTCTGCAAACTGATGTGACACCC -3'

Sequencing Primer
(F):5'- CACTGATTCAAGATGCCCATTAGG -3'
(R):5'- CTTCTTATTTCAGAGGACCGAACTG -3'
Posted On 2014-05-09