Incidental Mutation 'R5921:Dcdc2c'
ID501719
Institutional Source Beutler Lab
Gene Symbol Dcdc2c
Ensembl Gene ENSMUSG00000020633
Gene Namedoublecortin domain containing 2C
Synonyms1110015M06Rik
MMRRC Submission 044118-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5921 (G1)
Quality Score225
Status Validated
Chromosome12
Chromosomal Location28437795-28552399 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 28524775 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 116 (E116G)
Ref Sequence ENSEMBL: ENSMUSP00000140603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020963] [ENSMUST00000189735] [ENSMUST00000221349]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020963
AA Change: E284G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020963
Gene: ENSMUSG00000020633
AA Change: E284G

DomainStartEndE-ValueType
DCX 11 98 2.16e-29 SMART
DCX 131 217 6.18e-7 SMART
low complexity region 302 316 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000185916
AA Change: E216G
Predicted Effect possibly damaging
Transcript: ENSMUST00000189735
AA Change: E116G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140603
Gene: ENSMUSG00000020633
AA Change: E116G

DomainStartEndE-ValueType
Pfam:DCX 1 44 1.5e-9 PFAM
low complexity region 134 148 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189747
Predicted Effect probably benign
Transcript: ENSMUST00000221349
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223390
Meta Mutation Damage Score 0.178 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency 95% (70/74)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932443I19Rik G T 8: 13,734,840 A34S probably damaging Het
Ablim2 G A 5: 35,812,211 V223M probably damaging Het
Adamts7 T C 9: 90,188,694 S623P probably benign Het
Aqp7 G T 4: 41,036,093 N48K probably benign Het
Asic4 A G 1: 75,451,373 N181S probably benign Het
Blvra A T 2: 127,087,363 probably benign Het
Bmf C A 2: 118,532,553 probably benign Het
Bnc2 A T 4: 84,293,055 I454N possibly damaging Het
Catsperg1 A T 7: 29,190,523 L700H possibly damaging Het
Ccdc14 T C 16: 34,706,391 V222A probably damaging Het
Clstn3 A T 6: 124,431,580 probably benign Het
Col15a1 A T 4: 47,300,602 I1066F probably damaging Het
Dopey1 G A 9: 86,501,922 S310N probably damaging Het
Dync1h1 T A 12: 110,618,368 V735E probably damaging Het
Eva1a T C 6: 82,092,159 Y156H probably damaging Het
Fbxw26 A G 9: 109,746,018 I13T probably damaging Het
Fermt2 A T 14: 45,464,746 L527Q probably damaging Het
Fxyd4 G A 6: 117,936,138 probably benign Het
Gal A G 19: 3,410,100 S124P probably damaging Het
Glmp T C 3: 88,325,976 S56P probably benign Het
Gm5600 T C 7: 113,708,176 noncoding transcript Het
Golga2 A G 2: 32,297,755 N194S probably benign Het
Gon4l T C 3: 88,909,947 probably benign Het
Gtf2ird2 T A 5: 134,217,584 Y895N probably damaging Het
Hsd3b1 C A 3: 98,857,899 M22I probably benign Het
Ipo13 A C 4: 117,912,089 L169V probably benign Het
Kif13a G T 13: 46,825,300 T208K probably damaging Het
Klhl5 G T 5: 65,162,956 A618S probably damaging Het
Lrig2 A T 3: 104,462,754 L496* probably null Het
Macf1 A G 4: 123,526,711 I250T probably benign Het
Man1a A G 10: 53,907,510 I632T probably damaging Het
Nav2 A G 7: 49,304,576 probably benign Het
Nek8 A G 11: 78,173,059 M40T probably damaging Het
Oas3 T C 5: 120,769,981 D298G probably damaging Het
Ociad1 A G 5: 73,310,382 D167G probably benign Het
Olfr115 A T 17: 37,610,219 C177* probably null Het
Olfr12 T A 1: 92,620,622 S239T probably benign Het
Olfr284 T C 15: 98,340,429 T187A probably benign Het
Pafah2 G T 4: 134,418,069 V255L probably benign Het
Pde10a A G 17: 8,930,537 Y407C probably damaging Het
Pirb A C 7: 3,716,694 Y484* probably null Het
Prl8a6 A G 13: 27,437,188 S20P probably damaging Het
R3hdm4 A T 10: 79,913,619 V52E probably damaging Het
Rab3ip A G 10: 116,939,247 Y69H probably damaging Het
Rxrg T C 1: 167,639,239 M330T possibly damaging Het
Sema4g G T 19: 44,998,704 G460V probably benign Het
Sidt1 T C 16: 44,273,735 probably benign Het
Slc12a2 T A 18: 57,932,523 D943E probably benign Het
Slc12a4 T C 8: 105,945,244 probably null Het
Slc4a3 T G 1: 75,557,444 probably null Het
Slc4a8 C T 15: 100,814,447 probably benign Het
Srcap T A 7: 127,558,833 probably benign Het
Stk39 A G 2: 68,366,105 S327P probably damaging Het
Tbc1d5 G A 17: 50,963,693 T170M probably damaging Het
Trim13 T A 14: 61,605,089 F185Y probably benign Het
Ttc17 A G 2: 94,378,848 V87A probably damaging Het
Ttn A T 2: 76,720,863 M31395K possibly damaging Het
Usp34 T A 11: 23,464,686 D2876E probably damaging Het
Uvssa T C 5: 33,389,752 S221P probably benign Het
Vmn2r93 T A 17: 18,325,768 L634Q probably damaging Het
Vmp1 C T 11: 86,586,510 A355T probably benign Het
Xpo5 A T 17: 46,221,421 M461L probably benign Het
Zfp759 T A 13: 67,140,494 F703Y probably damaging Het
Other mutations in Dcdc2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02892:Dcdc2c APN 12 28535545 missense probably benign 0.03
R1214:Dcdc2c UTSW 12 28530430 nonsense probably null
R3040:Dcdc2c UTSW 12 28552182 missense probably damaging 1.00
R4937:Dcdc2c UTSW 12 28530473 missense possibly damaging 0.69
R5268:Dcdc2c UTSW 12 28516657 missense possibly damaging 0.83
R5920:Dcdc2c UTSW 12 28535537 missense possibly damaging 0.67
R6444:Dcdc2c UTSW 12 28535476 missense probably damaging 1.00
R6939:Dcdc2c UTSW 12 28541497 missense probably benign 0.09
R7044:Dcdc2c UTSW 12 28470494 utr 3 prime probably benign
R7235:Dcdc2c UTSW 12 28470719 missense
R7287:Dcdc2c UTSW 12 28516686 missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTGGATGTACACAGAACCTTC -3'
(R):5'- AGCTGAGGCCTTTACAGAAGC -3'

Sequencing Primer
(F):5'- CTGGATGTACACAGAACCTTCTAGAG -3'
(R):5'- CTGAGGCCTTTACAGAAGCAAAGAC -3'
Posted On2017-12-01