Incidental Mutation 'R7310:Cdca2'
ID 567535
Institutional Source Beutler Lab
Gene Symbol Cdca2
Ensembl Gene ENSMUSG00000048922
Gene Name cell division cycle associated 2
Synonyms 2610311M19Rik
MMRRC Submission 045409-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R7310 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 67913780-67953290 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67950673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 86 (L86H)
Ref Sequence ENSEMBL: ENSMUSP00000117847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078053] [ENSMUST00000124045] [ENSMUST00000125212] [ENSMUST00000132705] [ENSMUST00000145542] [ENSMUST00000150006] [ENSMUST00000150768] [ENSMUST00000152243] [ENSMUST00000156700] [ENSMUST00000163100]
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: L86H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000125212
Predicted Effect probably damaging
Transcript: ENSMUST00000132705
AA Change: L86H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115633
Gene: ENSMUSG00000048922
AA Change: L86H

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 probably damaging
Transcript: ENSMUST00000150006
AA Change: L86H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117847
Gene: ENSMUSG00000048922
AA Change: L86H

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 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
Predicted Effect probably damaging
Transcript: ENSMUST00000163100
AA Change: L86H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
AA Change: L86H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik A T 11: 58,771,094 (GRCm39) Q192L possibly damaging Het
Abat G A 16: 8,423,457 (GRCm39) R250Q probably null Het
Abcg3 A C 5: 105,114,632 (GRCm39) F295C probably benign Het
Abl1 T C 2: 31,690,604 (GRCm39) S708P possibly damaging Het
Acap2 A T 16: 30,926,972 (GRCm39) Y489* probably null Het
Akr1c6 A T 13: 4,486,354 (GRCm39) M54L probably benign Het
Arhgap5 A T 12: 52,589,270 (GRCm39) probably null Het
Asap1 A G 15: 63,971,379 (GRCm39) probably null Het
Atrnl1 A T 19: 57,630,856 (GRCm39) N208Y possibly damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 GTTCTGTGGTCACTG GTTCTGTGGTCACTGATTCTGTGGTCACTG 3: 95,795,485 (GRCm39) probably benign Het
BC028528 G GGGGTCACTGGTTCTT 3: 95,795,460 (GRCm39) probably benign Het
BC028528 ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC 3: 95,795,451 (GRCm39) probably benign Het
Bmi1 T C 2: 18,689,230 (GRCm39) S305P probably benign Het
Bpifc T A 10: 85,798,891 (GRCm39) I431F probably damaging Het
C130050O18Rik A T 5: 139,400,993 (GRCm39) M349L probably benign Het
Cacna2d1 A T 5: 16,519,914 (GRCm39) D428V probably damaging Het
Card14 A C 11: 119,217,005 (GRCm39) Q363P probably null Het
Cdh22 G T 2: 164,954,214 (GRCm39) S769* probably null Het
Cdhr17 A G 5: 17,075,246 (GRCm39) Y872C possibly damaging Het
Cep164 T C 9: 45,686,664 (GRCm39) E690G probably damaging Het
Cluh A G 11: 74,560,285 (GRCm39) H1304R probably benign Het
Daxx C A 17: 34,129,435 (GRCm39) D5E possibly damaging Het
Dnah7c A G 1: 46,636,127 (GRCm39) M1117V possibly damaging Het
Entpd3 T A 9: 120,389,821 (GRCm39) probably null Het
Esr1 G A 10: 4,889,259 (GRCm39) A386T probably damaging Het
Etv5 G A 16: 22,220,487 (GRCm39) P300L probably benign Het
Exoc3l A T 8: 106,020,340 (GRCm39) L195Q probably damaging Het
Exog T C 9: 119,274,069 (GRCm39) L18P unknown Het
Fgfr1 T A 8: 26,052,331 (GRCm39) V219D probably benign Het
Gna14 A T 19: 16,511,113 (GRCm39) Q54L Het
Gnb5 T C 9: 75,221,570 (GRCm39) L48P probably benign Het
Gpbp1 A G 13: 111,589,924 (GRCm39) I57T probably benign Het
Hnrnpa1 T A 15: 103,149,884 (GRCm39) D48E probably damaging Het
Hrc T A 7: 44,985,227 (GRCm39) L126* probably null Het
Hspa8 T G 9: 40,714,704 (GRCm39) D333E probably benign Het
Igsf3 T A 3: 101,338,895 (GRCm39) V403D probably benign Het
Itga10 C A 3: 96,555,475 (GRCm39) A143D probably damaging Het
Kdr T A 5: 76,104,985 (GRCm39) I1082F probably damaging Het
Klk1b11 A T 7: 43,428,254 (GRCm39) I242F probably damaging Het
Kng2 G A 16: 22,806,522 (GRCm39) T559I probably benign Het
Map1b G A 13: 99,570,163 (GRCm39) P853S unknown Het
Mmp13 T C 9: 7,280,880 (GRCm39) I421T possibly damaging Het
Mpeg1 A T 19: 12,439,615 (GRCm39) T358S probably damaging Het
Msantd5l A C 11: 51,145,474 (GRCm39) W38G probably damaging Het
Mttp T C 3: 137,800,783 (GRCm39) D759G probably damaging Het
Mup17 T A 4: 61,511,929 (GRCm39) Y115F possibly damaging Het
Myo1a G T 10: 127,541,697 (GRCm39) A79S probably damaging Het
Myo9a T A 9: 59,778,436 (GRCm39) N1397K probably benign Het
Nadk2 T C 15: 9,103,469 (GRCm39) probably null Het
Ncf1 A T 5: 134,250,615 (GRCm39) S402T probably benign Het
Ndufb10 T C 17: 24,941,188 (GRCm39) D145G probably damaging Het
Nlgn2 G A 11: 69,721,409 (GRCm39) T163M possibly damaging Het
Nol4 A T 18: 22,903,801 (GRCm39) H172Q Het
Nup205 T A 6: 35,202,904 (GRCm39) D1370E possibly damaging Het
Or1e32 A C 11: 73,705,112 (GRCm39) N265K probably damaging Het
Or51ab3 T A 7: 103,201,892 (GRCm39) I300N probably damaging Het
Or5b97 A G 19: 12,878,637 (GRCm39) F169S probably damaging Het
Pkd1l2 A G 8: 117,750,773 (GRCm39) V1746A probably benign Het
Plin2 T A 4: 86,586,628 (GRCm39) I68F probably benign Het
Proc A T 18: 32,268,952 (GRCm39) M11K probably benign Het
Rif1 T C 2: 51,995,631 (GRCm39) V950A probably benign Het
Rmc1 A G 18: 12,317,972 (GRCm39) K362E probably benign Het
Rnf208 C A 2: 25,133,587 (GRCm39) P94T probably damaging Het
Rundc3b A T 5: 8,571,011 (GRCm39) Y269* probably null Het
Senp7 T C 16: 56,006,445 (GRCm39) V950A probably benign Het
Sipa1l1 T C 12: 82,419,269 (GRCm39) V649A probably damaging Het
Sipa1l3 G T 7: 29,099,121 (GRCm39) H383N probably benign Het
Slc12a5 G A 2: 164,834,360 (GRCm39) V794M probably damaging Het
Slc7a7 A G 14: 54,616,482 (GRCm39) I200T probably damaging Het
Spdye4b A C 5: 143,188,103 (GRCm39) I199L probably damaging Het
Styxl2 G A 1: 165,926,300 (GRCm39) T1104I possibly damaging Het
Tle4 A T 19: 14,495,155 (GRCm39) H191Q probably benign Het
Tnfsf13b C A 8: 10,081,651 (GRCm39) S271* probably null Het
Tnks2 G A 19: 36,856,839 (GRCm39) V855I probably benign Het
Trank1 T C 9: 111,196,194 (GRCm39) L1406S probably damaging Het
Trhde T C 10: 114,636,478 (GRCm39) E243G probably damaging Het
Trim25 A T 11: 88,906,608 (GRCm39) N448I probably benign Het
Trim31 T A 17: 37,218,194 (GRCm39) M308K probably benign Het
Ugt2b36 A T 5: 87,214,138 (GRCm39) V502E possibly damaging Het
Usp10 A C 8: 120,668,344 (GRCm39) D215A possibly damaging Het
Usp33 T G 3: 152,066,026 (GRCm39) L102* probably null Het
Wdr12 A T 1: 60,121,734 (GRCm39) C272* probably null Het
Xndc1 A C 7: 101,727,938 (GRCm39) probably null Het
Zkscan2 T C 7: 123,089,276 (GRCm39) I332V possibly damaging Het
Zswim5 A T 4: 116,841,885 (GRCm39) T822S 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
R4777:Cdca2 UTSW 14 67,950,589 (GRCm39) missense probably damaging 0.99
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
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'- TTTCCTTCACAAGACCCACGAG -3'
(R):5'- TGTGTGCCAAGTGCTGATC -3'

Sequencing Primer
(F):5'- GAGAGCACAGCCTTCTTT -3'
(R):5'- TGTGCCAAGTGCTGATCTAGAAAC -3'
Posted On 2019-06-26