Incidental Mutation 'R4777:Cdca2'
ID 368052
Institutional Source Beutler Lab
Gene Symbol Cdca2
Ensembl Gene ENSMUSG00000048922
Gene Name cell division cycle associated 2
Synonyms 2610311M19Rik
MMRRC Submission 041992-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R4777 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 67913780-67953290 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 67950589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 114 (R114Q)
Ref Sequence ENSEMBL: ENSMUSP00000116384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078053] [ENSMUST00000124045] [ENSMUST00000125212] [ENSMUST00000132705] [ENSMUST00000145542] [ENSMUST00000150006] [ENSMUST00000150768] [ENSMUST00000163100] [ENSMUST00000152243] [ENSMUST00000156700]
AlphaFold Q14B71
Predicted Effect probably benign
Transcript: ENSMUST00000078053
SMART Domains Protein: ENSMUSP00000077200
Gene: ENSMUSG00000034327

DomainStartEndE-ValueType
Pfam:DUF3354 1 65 3.5e-22 PFAM
BTB 89 192 1.76e-16 SMART
Pfam:Pentapeptide 253 292 1e-14 PFAM
Pfam:Pentapeptide_4 258 334 2.7e-15 PFAM
Pfam:Pentapeptide 288 327 6.8e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124045
AA Change: R114Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000125212
Predicted Effect possibly damaging
Transcript: ENSMUST00000132705
AA Change: R114Q

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115633
Gene: ENSMUSG00000048922
AA Change: R114Q

DomainStartEndE-ValueType
Pfam:PP1_bind 378 437 4.3e-28 PFAM
low complexity region 515 528 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145542
Predicted Effect possibly damaging
Transcript: ENSMUST00000150006
AA Change: R114Q

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117847
Gene: ENSMUSG00000048922
AA Change: R114Q

DomainStartEndE-ValueType
Pfam:PP1_bind 378 437 5.4e-28 PFAM
low complexity region 515 528 N/A INTRINSIC
low complexity region 542 556 N/A INTRINSIC
low complexity region 931 942 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150768
SMART Domains Protein: ENSMUSP00000114489
Gene: ENSMUSG00000034327

DomainStartEndE-ValueType
Pfam:KHA 2 64 1.4e-21 PFAM
BTB 89 192 1.76e-16 SMART
Pfam:Pentapeptide 219 255 9.3e-8 PFAM
Pfam:Pentapeptide 248 280 9.3e-11 PFAM
Pfam:Pentapeptide 258 297 3e-10 PFAM
Pfam:Pentapeptide 303 342 3.2e-13 PFAM
Pfam:Pentapeptide_4 308 384 3.3e-13 PFAM
Pfam:Pentapeptide 338 377 2.1e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155312
Predicted Effect possibly damaging
Transcript: ENSMUST00000163100
AA Change: R114Q

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
AA Change: R114Q

DomainStartEndE-ValueType
Pfam:PP1_bind 379 436 4.1e-27 PFAM
low complexity region 515 528 N/A INTRINSIC
low complexity region 542 556 N/A INTRINSIC
low complexity region 931 942 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152243
SMART Domains Protein: ENSMUSP00000120440
Gene: ENSMUSG00000034327

DomainStartEndE-ValueType
Pfam:BTB_2 1 70 1.3e-13 PFAM
Pfam:BTB 1 78 6.2e-7 PFAM
Pfam:Pentapeptide 105 137 4.3e-8 PFAM
Pfam:Pentapeptide 134 166 5.5e-11 PFAM
Pfam:Pentapeptide 144 183 1.5e-10 PFAM
Pfam:Pentapeptide_4 165 239 5.3e-9 PFAM
Pfam:Pentapeptide 189 228 1.7e-13 PFAM
Pfam:Pentapeptide 209 237 9.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156700
SMART Domains Protein: ENSMUSP00000115002
Gene: ENSMUSG00000034327

DomainStartEndE-ValueType
Pfam:DUF3354 1 65 2.5e-23 PFAM
SCOP:d3kvt__ 89 107 9e-4 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a targeting subunit of the cell-cycle associated protein, protein phosphatase 1, with a role in targeting this protein to chromatin during anaphase. These two proteins comprise a phosphatase complex that is involved in nuclear envelope reformation and regulation of the DNA damage response. The encoded protein may also play a role in cancer progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Allele List at MGI

All alleles(24) : Gene trapped(24)

Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A C 3: 137,771,503 (GRCm39) S231R probably benign Het
5730455P16Rik A T 11: 80,265,041 (GRCm39) I137N probably damaging Het
Abhd10 G A 16: 45,557,279 (GRCm39) Q176* probably null Het
Acer3 T C 7: 97,910,804 (GRCm39) Y86C probably damaging Het
Ankrd36 T C 11: 5,557,120 (GRCm39) V356A probably benign Het
Atp1a1 A G 3: 101,502,312 (GRCm39) probably null Het
Bmp8b G A 4: 123,015,793 (GRCm39) R260Q possibly damaging Het
C2cd3 T A 7: 100,065,539 (GRCm39) V775D possibly damaging Het
Cacna1b T A 2: 24,622,337 (GRCm39) I216F probably damaging Het
Capn5 T A 7: 97,780,925 (GRCm39) N284I probably damaging Het
Cbr1 C A 16: 93,406,942 (GRCm39) D219E probably benign Het
Cdh20 G A 1: 109,922,055 (GRCm39) W49* probably null Het
Cep152 C T 2: 125,406,015 (GRCm39) V1506I probably benign Het
Cfap97 C T 8: 46,648,334 (GRCm39) Q537* probably null Het
Cpsf2 T A 12: 101,963,091 (GRCm39) V385E probably damaging Het
Dse A G 10: 34,029,584 (GRCm39) V502A possibly damaging Het
Fam171a1 T A 2: 3,224,550 (GRCm39) F300L probably benign Het
Fnip1 T G 11: 54,391,382 (GRCm39) N438K probably damaging Het
Fstl5 C T 3: 76,500,807 (GRCm39) T412M probably damaging Het
Gm11938 T A 11: 99,494,059 (GRCm39) Q12L unknown Het
Hcls1 G T 16: 36,775,678 (GRCm39) A171S probably damaging Het
Hcn1 ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC 13: 118,112,269 (GRCm39) probably benign Het
Hydin G T 8: 111,137,096 (GRCm39) C633F probably damaging Het
Ica1 A T 6: 8,644,145 (GRCm39) D381E probably benign Het
Ift74 A G 4: 94,541,234 (GRCm39) K220E probably benign Het
Igfn1 A T 1: 135,882,600 (GRCm39) D2748E probably benign Het
Il16 A C 7: 83,300,104 (GRCm39) D396E probably benign Het
Impdh1 G T 6: 29,205,201 (GRCm39) A200E possibly damaging Het
Itga4 C T 2: 79,144,054 (GRCm39) T647I possibly damaging Het
Jpt1 A T 11: 115,391,497 (GRCm39) M104K probably benign Het
Krt73 C A 15: 101,702,436 (GRCm39) A476S probably benign Het
Lama3 T C 18: 12,546,828 (GRCm39) Y363H probably damaging Het
Lgr4 C T 2: 109,827,027 (GRCm39) P177L probably damaging Het
Lrp2 T C 2: 69,312,608 (GRCm39) D2560G probably damaging Het
Ly6m T C 15: 74,752,532 (GRCm39) N48S probably benign Het
Macf1 A T 4: 123,270,295 (GRCm39) F6617I probably damaging Het
Mcf2l T A 8: 13,068,051 (GRCm39) probably null Het
Mcub T A 3: 129,763,600 (GRCm39) Q42L probably damaging Het
Mfsd9 C T 1: 40,820,700 (GRCm39) V150I possibly damaging Het
Myo15b T C 11: 115,770,478 (GRCm39) V96A probably damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or10aa3 T G 1: 173,878,244 (GRCm39) Y102D probably damaging Het
Or10g6 T C 9: 39,933,994 (GRCm39) F102L possibly damaging Het
Or1r1 A G 11: 73,875,221 (GRCm39) V71A probably benign Het
Pgap6 T C 17: 26,340,515 (GRCm39) V633A probably damaging Het
Pinlyp T A 7: 24,241,568 (GRCm39) I153F possibly damaging Het
Plk2 A C 13: 110,534,307 (GRCm39) M296L probably benign Het
Plvap T C 8: 71,960,630 (GRCm39) Y262C probably benign Het
Ppfia3 C A 7: 44,990,581 (GRCm39) G1066V probably damaging Het
Prokr1 A G 6: 87,565,842 (GRCm39) M1T probably null Het
Ptgs2 G T 1: 149,981,138 (GRCm39) A474S probably benign Het
Pth2r A G 1: 65,427,676 (GRCm39) T450A possibly damaging Het
Ranbp6 A T 19: 29,789,037 (GRCm39) F438L probably damaging Het
Ripor1 A T 8: 106,341,622 (GRCm39) Q102L probably damaging Het
Rprd2 C T 3: 95,694,686 (GRCm39) V116I probably benign Het
Sacs T C 14: 61,449,258 (GRCm39) V3768A probably damaging Het
Scn8a T C 15: 100,913,832 (GRCm39) Y1075H probably damaging Het
Senp3 C T 11: 69,569,063 (GRCm39) G366D probably damaging Het
Smim1 T C 4: 154,108,107 (GRCm39) probably benign Het
Sptan1 A G 2: 29,886,447 (GRCm39) I817V probably damaging Het
Stag3 A T 5: 138,307,461 (GRCm39) probably benign Het
Stk17b A T 1: 53,810,867 (GRCm39) H79Q probably damaging Het
Svil A G 18: 5,088,813 (GRCm39) K1296E probably damaging Het
Tmem117 T A 15: 94,992,331 (GRCm39) Y330* probably null Het
Tnxb G T 17: 34,890,917 (GRCm39) R420L probably damaging Het
Trim9 C A 12: 70,393,845 (GRCm39) C33F probably damaging Het
Usp29 A C 7: 6,965,747 (GRCm39) Y530S probably benign Het
Vps26b T C 9: 26,921,752 (GRCm39) T258A possibly damaging Het
Vrtn C A 12: 84,695,600 (GRCm39) H117N probably damaging Het
Wdr33 C T 18: 32,014,301 (GRCm39) H388Y probably damaging Het
Zfp451 A T 1: 33,821,186 (GRCm39) V222D possibly damaging Het
Zfp953 A G 13: 67,491,193 (GRCm39) I253T probably benign Het
Zfy2 A G Y: 2,116,194 (GRCm39) V282A probably benign Het
Zscan29 A T 2: 120,999,805 (GRCm39) V132D probably damaging Het
Zswim4 G T 8: 84,963,586 (GRCm39) D16E probably benign Het
Other mutations in Cdca2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Cdca2 APN 14 67,952,146 (GRCm39) missense probably damaging 0.99
IGL01413:Cdca2 APN 14 67,915,343 (GRCm39) missense probably damaging 0.98
IGL01962:Cdca2 APN 14 67,943,172 (GRCm39) missense probably damaging 0.99
IGL01982:Cdca2 APN 14 67,915,168 (GRCm39) missense probably damaging 0.98
IGL02198:Cdca2 APN 14 67,932,445 (GRCm39) missense probably benign 0.00
IGL02208:Cdca2 APN 14 67,950,589 (GRCm39) missense probably damaging 0.99
IGL02883:Cdca2 APN 14 67,944,946 (GRCm39) missense probably damaging 1.00
IGL03069:Cdca2 APN 14 67,952,385 (GRCm39) splice site probably benign
F5493:Cdca2 UTSW 14 67,915,141 (GRCm39) missense probably damaging 0.99
IGL03046:Cdca2 UTSW 14 67,937,471 (GRCm39) intron probably benign
R0254:Cdca2 UTSW 14 67,914,627 (GRCm39) missense probably damaging 0.99
R0350:Cdca2 UTSW 14 67,950,568 (GRCm39) missense probably benign 0.02
R0368:Cdca2 UTSW 14 67,937,796 (GRCm39) missense possibly damaging 0.89
R0398:Cdca2 UTSW 14 67,935,411 (GRCm39) missense probably damaging 0.98
R0790:Cdca2 UTSW 14 67,917,740 (GRCm39) missense probably benign
R1104:Cdca2 UTSW 14 67,931,131 (GRCm39) missense probably damaging 0.99
R1474:Cdca2 UTSW 14 67,952,355 (GRCm39) intron probably benign
R1658:Cdca2 UTSW 14 67,915,148 (GRCm39) missense possibly damaging 0.93
R1782:Cdca2 UTSW 14 67,915,260 (GRCm39) missense probably benign 0.22
R2150:Cdca2 UTSW 14 67,952,258 (GRCm39) missense probably damaging 1.00
R2154:Cdca2 UTSW 14 67,914,425 (GRCm39) missense probably damaging 0.99
R2155:Cdca2 UTSW 14 67,952,287 (GRCm39) missense probably damaging 1.00
R2862:Cdca2 UTSW 14 67,935,539 (GRCm39) missense probably damaging 1.00
R3156:Cdca2 UTSW 14 67,935,612 (GRCm39) missense possibly damaging 0.91
R3840:Cdca2 UTSW 14 67,917,720 (GRCm39) nonsense probably null
R4043:Cdca2 UTSW 14 67,941,455 (GRCm39) missense probably benign 0.11
R4293:Cdca2 UTSW 14 67,952,299 (GRCm39) missense probably benign 0.06
R4679:Cdca2 UTSW 14 67,952,415 (GRCm39) missense possibly damaging 0.68
R4829:Cdca2 UTSW 14 67,931,202 (GRCm39) critical splice acceptor site probably null
R4843:Cdca2 UTSW 14 67,914,425 (GRCm39) missense probably damaging 1.00
R5031:Cdca2 UTSW 14 67,950,602 (GRCm39) missense probably damaging 1.00
R5181:Cdca2 UTSW 14 67,917,614 (GRCm39) missense probably damaging 0.98
R5331:Cdca2 UTSW 14 67,914,920 (GRCm39) missense possibly damaging 0.91
R5490:Cdca2 UTSW 14 67,917,733 (GRCm39) missense possibly damaging 0.91
R5695:Cdca2 UTSW 14 67,943,078 (GRCm39) critical splice donor site probably null
R6246:Cdca2 UTSW 14 67,915,277 (GRCm39) nonsense probably null
R6866:Cdca2 UTSW 14 67,931,115 (GRCm39) missense possibly damaging 0.92
R6928:Cdca2 UTSW 14 67,943,193 (GRCm39) missense probably damaging 0.98
R6955:Cdca2 UTSW 14 67,952,453 (GRCm39) start codon destroyed probably null 0.53
R6986:Cdca2 UTSW 14 67,932,446 (GRCm39) missense probably benign 0.27
R7080:Cdca2 UTSW 14 67,935,551 (GRCm39) missense probably damaging 0.99
R7092:Cdca2 UTSW 14 67,944,800 (GRCm39) critical splice donor site probably null
R7292:Cdca2 UTSW 14 67,915,326 (GRCm39) nonsense probably null
R7308:Cdca2 UTSW 14 67,932,440 (GRCm39) missense probably benign
R7310:Cdca2 UTSW 14 67,950,673 (GRCm39) missense probably damaging 1.00
R7877:Cdca2 UTSW 14 67,914,665 (GRCm39) missense probably benign
R8012:Cdca2 UTSW 14 67,914,821 (GRCm39) missense probably benign 0.23
R8080:Cdca2 UTSW 14 67,915,004 (GRCm39) nonsense probably null
R8772:Cdca2 UTSW 14 67,935,529 (GRCm39) missense probably damaging 0.98
R9123:Cdca2 UTSW 14 67,917,762 (GRCm39) missense probably benign 0.03
R9125:Cdca2 UTSW 14 67,917,762 (GRCm39) missense probably benign 0.03
R9252:Cdca2 UTSW 14 67,914,831 (GRCm39) missense possibly damaging 0.93
R9328:Cdca2 UTSW 14 67,931,131 (GRCm39) missense probably damaging 0.99
R9406:Cdca2 UTSW 14 67,937,772 (GRCm39) missense unknown
R9667:Cdca2 UTSW 14 67,915,003 (GRCm39) missense probably benign 0.01
R9678:Cdca2 UTSW 14 67,937,778 (GRCm39) missense unknown
Z1088:Cdca2 UTSW 14 67,937,747 (GRCm39) missense probably benign 0.12
Z1177:Cdca2 UTSW 14 67,917,693 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCAGCAAGCAAGTTACCTG -3'
(R):5'- AGTTCTCTGTGACAAGTGCAGAC -3'

Sequencing Primer
(F):5'- AGCAAGTTACCTGCAGTCCCTG -3'
(R):5'- GACAAGTGCAGACTCTGTTTTC -3'
Posted On 2015-12-29