Incidental Mutation 'IGL01314:Dcdc2a'
ID 73793
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dcdc2a
Ensembl Gene ENSMUSG00000035910
Gene Name doublecortin domain containing 2a
Synonyms RU2, Dcdc2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # IGL01314
Quality Score
Status
Chromosome 13
Chromosomal Location 25239987-25394689 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25286587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 170 (L170P)
Ref Sequence ENSEMBL: ENSMUSP00000063650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036932] [ENSMUST00000069614]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000036932
AA Change: L170P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047641
Gene: ENSMUSG00000035910
AA Change: L170P

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 damaging
Transcript: ENSMUST00000069614
AA Change: L170P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063650
Gene: ENSMUSG00000035910
AA Change: L170P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159129
Coding Region Coverage
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 C T 15: 11,071,939 (GRCm39) A161V probably benign Het
Bptf A T 11: 106,945,679 (GRCm39) V2520E probably damaging Het
C87436 T C 6: 86,434,837 (GRCm39) F395S probably damaging Het
Capn1 T C 19: 6,040,014 (GRCm39) probably benign Het
Ceacam5 T A 7: 17,481,181 (GRCm39) Y309* probably null Het
Clasp2 A G 9: 113,735,195 (GRCm39) D1011G possibly damaging Het
Csmd3 A G 15: 47,713,151 (GRCm39) Y1608H probably damaging Het
Dcaf1 T C 9: 106,711,390 (GRCm39) I77T probably benign Het
Ddx28 A G 8: 106,737,212 (GRCm39) F282S probably damaging Het
Egf A G 3: 129,479,909 (GRCm39) I497T probably benign Het
Emsy A G 7: 98,242,662 (GRCm39) V1159A probably benign Het
Hk3 C A 13: 55,154,876 (GRCm39) probably benign Het
Htt A G 5: 35,036,200 (GRCm39) D2049G probably benign Het
Inpp5d C A 1: 87,611,472 (GRCm39) S45* probably null Het
Irf8 A G 8: 121,480,119 (GRCm39) Y119C probably damaging Het
Klk1b4 T C 7: 43,860,600 (GRCm39) probably null Het
Macf1 A G 4: 123,380,513 (GRCm39) S1273P probably damaging Het
Man2c1 A T 9: 57,049,103 (GRCm39) H867L probably benign Het
Mgat4e T C 1: 134,469,187 (GRCm39) T286A probably damaging Het
Mug2 T C 6: 122,058,238 (GRCm39) F1267L possibly damaging Het
Necab1 T A 4: 15,005,079 (GRCm39) E128D probably damaging Het
Or10ak9 G A 4: 118,726,328 (GRCm39) V117I probably benign Het
Pds5a A G 5: 65,772,637 (GRCm39) V1322A probably benign Het
Poc1b C T 10: 98,965,503 (GRCm39) T144I probably damaging Het
Prcc T A 3: 87,777,387 (GRCm39) N196Y probably damaging Het
Psma5 G A 3: 108,187,111 (GRCm39) V237M possibly damaging Het
Rap1gds1 A G 3: 138,756,322 (GRCm39) L11P probably damaging Het
Rapgef3 A G 15: 97,646,104 (GRCm39) F132S probably damaging Het
Rgs13 T G 1: 144,047,179 (GRCm39) D14A probably benign Het
Rlig1 A C 10: 100,409,473 (GRCm39) D313E probably damaging Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Tcerg1 C A 18: 42,706,374 (GRCm39) A1017D probably damaging Het
Tent5c T C 3: 100,380,490 (GRCm39) K89E probably benign Het
Tmem79 T C 3: 88,239,883 (GRCm39) I276V possibly damaging Het
Tmem94 C A 11: 115,680,835 (GRCm39) H113N probably damaging Het
Vil1 G A 1: 74,467,397 (GRCm39) D715N probably damaging Het
Vmn2r96 A G 17: 18,803,226 (GRCm39) T187A probably benign Het
Zfhx4 T A 3: 5,478,154 (GRCm39) S3590T probably damaging Het
Other mutations in Dcdc2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Dcdc2a APN 13 25,303,312 (GRCm39) missense probably benign 0.00
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
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
Posted On 2013-10-07