Incidental Mutation 'R8867:Dcdc2a'
ID 676034
Institutional Source Beutler Lab
Gene Symbol Dcdc2a
Ensembl Gene ENSMUSG00000035910
Gene Name doublecortin domain containing 2a
Synonyms RU2, Dcdc2
MMRRC Submission 068682-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # R8867 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 25239987-25394689 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 25386266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 380 (A380V)
Ref Sequence ENSEMBL: ENSMUSP00000063650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069614]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000069614
AA Change: A380V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000063650
Gene: ENSMUSG00000035910
AA Change: A380V

DomainStartEndE-ValueType
DCX 12 100 2.93e-40 SMART
DCX 134 221 1.76e-34 SMART
low complexity region 286 299 N/A INTRINSIC
low complexity region 325 340 N/A INTRINSIC
coiled coil region 409 437 N/A INTRINSIC
low complexity region 461 475 N/A INTRINSIC
Meta Mutation Damage Score 0.0724 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (78/79)
MGI Phenotype FUNCTION: This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired short term object recognition, impaired visuo-spatial learning and memory and increased anxiety-related response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik G A 4: 73,861,087 (GRCm39) S171F probably damaging Het
A130010J15Rik T C 1: 192,857,406 (GRCm39) S253P probably damaging Het
Acbd5 T C 2: 22,970,370 (GRCm39) M97T possibly damaging Het
Aire T C 10: 77,873,809 (GRCm39) E300G probably damaging Het
Ano1 A G 7: 144,223,397 (GRCm39) S99P possibly damaging Het
Ap5z1 A G 5: 142,463,011 (GRCm39) N732D probably benign Het
Apcs A T 1: 172,722,004 (GRCm39) L114Q possibly damaging Het
Apmap T C 2: 150,431,886 (GRCm39) probably benign Het
Ark2c T C 18: 77,563,182 (GRCm39) E159G possibly damaging Het
Asxl3 C A 18: 22,649,547 (GRCm39) T512N possibly damaging Het
Atp1a4 T C 1: 172,072,491 (GRCm39) T388A probably damaging Het
B3galt9 A G 2: 34,728,636 (GRCm39) D145G probably damaging Het
Bcl2a1a A T 9: 88,839,503 (GRCm39) I134L probably damaging Het
Chd6 G A 2: 160,862,989 (GRCm39) A444V probably benign Het
Cmbl C A 15: 31,582,073 (GRCm39) H23Q probably benign Het
Cnnm2 T A 19: 46,750,996 (GRCm39) I262N probably damaging Het
Col6a3 C T 1: 90,715,673 (GRCm39) R2260H unknown Het
Cracr2a T A 6: 127,606,736 (GRCm39) L260* probably null Het
Csmd2 A G 4: 128,451,469 (GRCm39) Y3409C Het
Cyp4b1 C T 4: 115,493,169 (GRCm39) R225H possibly damaging Het
Dnah6 A G 6: 72,998,131 (GRCm39) L4097P probably damaging Het
Dppa3 G A 6: 122,605,602 (GRCm39) R52Q probably benign Het
Fbxo31 C T 8: 122,281,967 (GRCm39) R311H probably benign Het
Fhad1 T C 4: 141,656,885 (GRCm39) R90G probably damaging Het
Fitm2 A T 2: 163,311,602 (GRCm39) W204R possibly damaging Het
Gatb T A 3: 85,511,716 (GRCm39) L157H probably damaging Het
Gm5111 G A 6: 48,566,629 (GRCm39) probably null Het
Gm7298 A C 6: 121,748,788 (GRCm39) I688L probably benign Het
Hecw1 T C 13: 14,422,275 (GRCm39) probably null Het
Ift122 T A 6: 115,857,632 (GRCm39) V126E probably damaging Het
Iqcf6 A T 9: 106,504,698 (GRCm39) I121F possibly damaging Het
Kif21a A G 15: 90,852,382 (GRCm39) V902A probably damaging Het
Klhl38 T C 15: 58,178,435 (GRCm39) M512V probably benign Het
Klk1b1 A C 7: 43,619,747 (GRCm39) N102T probably damaging Het
Lama4 T A 10: 38,923,996 (GRCm39) L468Q probably damaging Het
Lilra5 A T 7: 4,241,165 (GRCm39) Q34L possibly damaging Het
Lrrc7 T A 3: 157,867,521 (GRCm39) D740V probably damaging Het
Mapk7 G T 11: 61,384,632 (GRCm39) P25T probably benign Het
Mcm3ap C A 10: 76,306,538 (GRCm39) A217D probably benign Het
Mucl3 A T 17: 35,948,872 (GRCm39) F242L probably benign Het
Ncaph2 A G 15: 89,254,605 (GRCm39) E406G probably benign Het
Ncor2 T C 5: 125,179,739 (GRCm39) I69V unknown Het
Nfatc3 A G 8: 106,805,640 (GRCm39) S170G probably damaging Het
Nptn G A 9: 58,526,264 (GRCm39) R137Q probably damaging Het
Nsd1 A T 13: 55,430,570 (GRCm39) K1581N probably damaging Het
Or1q1 T C 2: 36,887,691 (GRCm39) Y290H probably damaging Het
Or2t43 A G 11: 58,457,562 (GRCm39) L203P probably damaging Het
Or51l4 G A 7: 103,403,893 (GRCm39) Q300* probably null Het
Or52ab2 T A 7: 102,970,449 (GRCm39) L277Q Het
Or5be3 G T 2: 86,863,803 (GRCm39) T254K probably damaging Het
Or6c211 A T 10: 129,505,628 (GRCm39) C253* probably null Het
Pdcl T C 2: 37,242,348 (GRCm39) E134G probably damaging Het
Pikfyve T A 1: 65,283,576 (GRCm39) Y738N probably damaging Het
Pkd1 A G 17: 24,792,807 (GRCm39) D1498G probably damaging Het
Plxna1 T C 6: 89,310,079 (GRCm39) N1029D probably benign Het
Ppp3cb C A 14: 20,596,517 (GRCm39) probably benign Het
Prkn A G 17: 11,456,448 (GRCm39) T91A probably benign Het
Rgs18 T A 1: 144,629,698 (GRCm39) D187V probably damaging Het
Ripor2 C T 13: 24,822,760 (GRCm39) probably benign Het
Rpl3l G A 17: 24,954,455 (GRCm39) G172D probably damaging Het
Sdf4 A G 4: 156,093,759 (GRCm39) T298A probably damaging Het
Skic3 C T 13: 76,279,428 (GRCm39) S620L probably damaging Het
Slc17a3 T C 13: 24,039,943 (GRCm39) V327A Het
Slc4a1ap T A 5: 31,708,059 (GRCm39) F677L probably benign Het
Stoml2 A G 4: 43,028,256 (GRCm39) V324A probably benign Het
Syne2 A G 12: 75,989,620 (GRCm39) Q1833R probably damaging Het
Syt6 A G 3: 103,534,371 (GRCm39) N481D possibly damaging Het
Tert T C 13: 73,776,566 (GRCm39) M439T probably benign Het
Thsd7a A T 6: 12,338,686 (GRCm39) D1181E Het
Tln2 G A 9: 67,237,832 (GRCm39) T33I probably damaging Het
Top3a A G 11: 60,633,481 (GRCm39) S872P probably benign Het
Trim10 T C 17: 37,181,048 (GRCm39) L93P probably benign Het
Trpc7 C T 13: 57,008,746 (GRCm39) S307N probably benign Het
Ttn A T 2: 76,640,427 (GRCm39) V13727E probably damaging Het
Vmn1r220 T C 13: 23,368,271 (GRCm39) S142G probably benign Het
Vmn1r32 A G 6: 66,530,651 (GRCm39) S42P probably damaging Het
Zc3h7b G A 15: 81,656,681 (GRCm39) R166Q probably benign Het
Zfp683 C T 4: 133,785,995 (GRCm39) T374I probably damaging Het
Other mutations in Dcdc2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Dcdc2a APN 13 25,303,312 (GRCm39) missense probably benign 0.00
IGL01314:Dcdc2a APN 13 25,286,587 (GRCm39) missense probably damaging 1.00
IGL02171:Dcdc2a APN 13 25,240,417 (GRCm39) missense probably damaging 1.00
IGL02490:Dcdc2a APN 13 25,291,635 (GRCm39) missense probably damaging 1.00
R0128:Dcdc2a UTSW 13 25,371,655 (GRCm39) splice site probably benign
R0130:Dcdc2a UTSW 13 25,371,655 (GRCm39) splice site probably benign
R0366:Dcdc2a UTSW 13 25,240,417 (GRCm39) missense probably damaging 1.00
R0507:Dcdc2a UTSW 13 25,286,572 (GRCm39) missense probably damaging 0.99
R0514:Dcdc2a UTSW 13 25,303,369 (GRCm39) missense probably benign 0.04
R1055:Dcdc2a UTSW 13 25,286,593 (GRCm39) missense probably damaging 0.99
R1170:Dcdc2a UTSW 13 25,240,290 (GRCm39) missense probably benign 0.34
R1301:Dcdc2a UTSW 13 25,286,569 (GRCm39) missense possibly damaging 0.93
R1514:Dcdc2a UTSW 13 25,245,237 (GRCm39) missense probably benign 0.05
R1842:Dcdc2a UTSW 13 25,291,585 (GRCm39) missense probably damaging 1.00
R2060:Dcdc2a UTSW 13 25,291,693 (GRCm39) missense possibly damaging 0.59
R2121:Dcdc2a UTSW 13 25,303,268 (GRCm39) missense possibly damaging 0.93
R2122:Dcdc2a UTSW 13 25,303,268 (GRCm39) missense possibly damaging 0.93
R2900:Dcdc2a UTSW 13 25,304,481 (GRCm39) missense probably benign 0.01
R3153:Dcdc2a UTSW 13 25,286,340 (GRCm39) missense probably benign 0.03
R3154:Dcdc2a UTSW 13 25,286,340 (GRCm39) missense probably benign 0.03
R4353:Dcdc2a UTSW 13 25,240,474 (GRCm39) missense probably damaging 1.00
R4608:Dcdc2a UTSW 13 25,245,223 (GRCm39) nonsense probably null
R5099:Dcdc2a UTSW 13 25,291,681 (GRCm39) missense probably benign 0.12
R5128:Dcdc2a UTSW 13 25,286,512 (GRCm39) missense probably damaging 1.00
R5181:Dcdc2a UTSW 13 25,386,347 (GRCm39) missense possibly damaging 0.94
R5271:Dcdc2a UTSW 13 25,371,671 (GRCm39) missense probably benign 0.35
R5869:Dcdc2a UTSW 13 25,291,713 (GRCm39) missense probably benign 0.05
R6058:Dcdc2a UTSW 13 25,240,354 (GRCm39) missense possibly damaging 0.82
R6146:Dcdc2a UTSW 13 25,389,440 (GRCm39) missense probably benign 0.35
R6892:Dcdc2a UTSW 13 25,240,443 (GRCm39) missense probably damaging 1.00
R6956:Dcdc2a UTSW 13 25,303,349 (GRCm39) missense probably benign 0.02
R6972:Dcdc2a UTSW 13 25,304,372 (GRCm39) intron probably benign
R6973:Dcdc2a UTSW 13 25,304,372 (GRCm39) intron probably benign
R7097:Dcdc2a UTSW 13 25,291,681 (GRCm39) missense probably benign 0.12
R7247:Dcdc2a UTSW 13 25,286,374 (GRCm39) missense probably benign 0.00
R7390:Dcdc2a UTSW 13 25,291,600 (GRCm39) missense possibly damaging 0.89
R7570:Dcdc2a UTSW 13 25,303,356 (GRCm39) missense probably benign
R7636:Dcdc2a UTSW 13 25,286,605 (GRCm39) missense probably damaging 1.00
R7644:Dcdc2a UTSW 13 25,291,674 (GRCm39) missense probably damaging 1.00
R7898:Dcdc2a UTSW 13 25,286,361 (GRCm39) missense possibly damaging 0.67
R8070:Dcdc2a UTSW 13 25,386,180 (GRCm39) missense probably benign 0.00
R8183:Dcdc2a UTSW 13 25,291,633 (GRCm39) missense possibly damaging 0.95
R8829:Dcdc2a UTSW 13 25,294,051 (GRCm39) nonsense probably null
R8865:Dcdc2a UTSW 13 25,386,266 (GRCm39) missense probably benign 0.00
R8868:Dcdc2a UTSW 13 25,386,266 (GRCm39) missense probably benign 0.00
R9290:Dcdc2a UTSW 13 25,386,313 (GRCm39) missense probably benign
R9694:Dcdc2a UTSW 13 25,286,340 (GRCm39) missense probably benign 0.27
R9760:Dcdc2a UTSW 13 25,389,443 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAAAAGCCCCGTTACACTC -3'
(R):5'- ATGCGCACACTCATTTATGCAC -3'

Sequencing Primer
(F):5'- GGAAAAGCCCCGTTACACTCTTTAC -3'
(R):5'- ATAGAAGTACCTCATCTTGCCCACTG -3'
Posted On 2021-07-15