Incidental Mutation 'R1514:Dcdc2a'
ID 168642
Institutional Source Beutler Lab
Gene Symbol Dcdc2a
Ensembl Gene ENSMUSG00000035910
Gene Name doublecortin domain containing 2a
Synonyms RU2, Dcdc2
MMRRC Submission 039561-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # R1514 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 25239987-25394689 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25245237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 105 (I105V)
Ref Sequence ENSEMBL: ENSMUSP00000047641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036932] [ENSMUST00000069614]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000036932
AA Change: I105V

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000047641
Gene: ENSMUSG00000035910
AA Change: I105V

DomainStartEndE-ValueType
DCX 12 100 2.93e-40 SMART
DCX 134 221 1.76e-34 SMART
low complexity region 286 299 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000069614
AA Change: I105V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000063650
Gene: ENSMUSG00000035910
AA Change: I105V

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 0.0597 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,448,729 (GRCm39) L147Q probably damaging Het
Aadacl4fm5 T C 4: 144,504,329 (GRCm39) N274S probably damaging Het
Abcb1a A G 5: 8,724,791 (GRCm39) T75A possibly damaging Het
Acvr1 A T 2: 58,337,597 (GRCm39) L495* probably null Het
Add1 T C 5: 34,767,961 (GRCm39) I240T probably benign Het
Adgra2 C A 8: 27,611,306 (GRCm39) S870* probably null Het
Amer3 G A 1: 34,618,408 (GRCm39) probably benign Het
Baz2b A T 2: 59,792,670 (GRCm39) V486D probably benign Het
Bcorl1 T A X: 47,494,821 (GRCm39) D1697E probably damaging Het
Cenpf T C 1: 189,411,338 (GRCm39) D282G possibly damaging Het
Cep112 A G 11: 108,362,880 (GRCm39) D200G probably damaging Het
Clec4a4 C T 6: 122,967,401 (GRCm39) P26S probably benign Het
Crygf A C 1: 65,967,197 (GRCm39) R102S possibly damaging Het
Cyp2b19 A T 7: 26,466,585 (GRCm39) E404D probably benign Het
Dus4l T C 12: 31,690,938 (GRCm39) M238V probably damaging Het
Eprs1 G A 1: 185,114,031 (GRCm39) M326I probably damaging Het
Evpl T C 11: 116,114,661 (GRCm39) T1010A probably benign Het
Fam124b T C 1: 80,178,148 (GRCm39) T284A possibly damaging Het
Glb1l2 A G 9: 26,680,420 (GRCm39) probably benign Het
Gm16223 T A 5: 42,225,298 (GRCm39) probably null Het
Gm4952 T A 19: 12,604,278 (GRCm39) M230K probably damaging Het
Gm5828 C A 1: 16,839,583 (GRCm39) noncoding transcript Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ifna16 T A 4: 88,594,979 (GRCm39) T39S possibly damaging Het
Kcnc3 G A 7: 44,245,027 (GRCm39) G439D probably damaging Het
Kif1c T C 11: 70,596,555 (GRCm39) S257P probably damaging Het
Kng1 A G 16: 22,898,510 (GRCm39) K456E probably damaging Het
Lpxn T C 19: 12,801,414 (GRCm39) L142P probably damaging Het
Lratd1 C T 12: 14,199,864 (GRCm39) V288M probably damaging Het
Med23 A G 10: 24,768,565 (GRCm39) probably benign Het
Mks1 A T 11: 87,751,937 (GRCm39) D369V probably benign Het
Myo1d A T 11: 80,576,734 (GRCm39) Y114N probably damaging Het
Npas2 A G 1: 39,350,935 (GRCm39) D126G possibly damaging Het
Oga A G 19: 45,765,370 (GRCm39) S146P probably damaging Het
Onecut2 T C 18: 64,474,651 (GRCm39) F401L possibly damaging Het
Or10n1 T C 9: 39,524,992 (GRCm39) I43T probably damaging Het
Or10v1 A G 19: 11,873,978 (GRCm39) T198A probably benign Het
Or4f61 T C 2: 111,922,381 (GRCm39) I222V probably benign Het
Parp11 T A 6: 127,451,256 (GRCm39) F102Y possibly damaging Het
Pcnx1 C T 12: 81,965,572 (GRCm39) H580Y probably damaging Het
Pde3b A G 7: 114,130,001 (GRCm39) H852R probably damaging Het
Pira1 G A 7: 3,742,639 (GRCm39) T23I possibly damaging Het
Pou2af1 A G 9: 51,144,508 (GRCm39) T141A probably benign Het
Rgs22 A C 15: 36,013,246 (GRCm39) V1190G probably benign Het
Rnf112 T C 11: 61,341,236 (GRCm39) S450G probably benign Het
Rpgrip1l A T 8: 91,987,378 (GRCm39) I893N probably damaging Het
Rps3a1 A G 3: 86,045,834 (GRCm39) V210A probably benign Het
Runx2 C T 17: 45,046,224 (GRCm39) A114T possibly damaging Het
Sardh A G 2: 27,087,702 (GRCm39) V723A possibly damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Secisbp2 A G 13: 51,836,131 (GRCm39) S742G possibly damaging Het
Selenow G T 7: 15,654,223 (GRCm39) probably benign Het
Slc30a4 A G 2: 122,531,334 (GRCm39) V226A probably damaging Het
Sntb2 A G 8: 107,718,164 (GRCm39) N291D probably damaging Het
Sorbs2 A G 8: 46,222,866 (GRCm39) T190A probably damaging Het
Spata31e5 T A 1: 28,817,829 (GRCm39) T68S possibly damaging Het
Specc1 T A 11: 62,047,358 (GRCm39) L909H probably damaging Het
Sprr1b T C 3: 92,344,414 (GRCm39) *154W probably null Het
Taar4 T A 10: 23,836,510 (GRCm39) M40K possibly damaging Het
Ubr2 A T 17: 47,311,749 (GRCm39) L34H probably damaging Het
Ubxn6 T C 17: 56,376,003 (GRCm39) K386R probably benign Het
Vmn2r112 A T 17: 22,821,825 (GRCm39) T168S probably benign Het
Xirp2 A T 2: 67,344,667 (GRCm39) R2303* probably null Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp13 G T 17: 23,795,386 (GRCm39) T395K probably damaging Het
Zfp281 A G 1: 136,554,435 (GRCm39) N471S probably benign 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
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
R8867: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'- ACCCAAAGTGTGTCTTTCCACACC -3'
(R):5'- TCATCCGATCCTGAATGCCTGAGC -3'

Sequencing Primer
(F):5'- TGATGAGGCTGCCTGAAC -3'
(R):5'- CCTGAATGCCTGAGCATATTATC -3'
Posted On 2014-04-13