Incidental Mutation 'R2150:Cdca2'
ID 234219
Institutional Source Beutler Lab
Gene Symbol Cdca2
Ensembl Gene ENSMUSG00000048922
Gene Name cell division cycle associated 2
Synonyms 2610311M19Rik
MMRRC Submission 040153-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R2150 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 67913780-67953290 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67952258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 38 (K38E)
Ref Sequence ENSEMBL: ENSMUSP00000116384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078053] [ENSMUST00000124045] [ENSMUST00000125212] [ENSMUST00000132705] [ENSMUST00000145542] [ENSMUST00000150006] [ENSMUST00000163100] [ENSMUST00000152243] [ENSMUST00000150768] [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: K38E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000125212
Predicted Effect possibly damaging
Transcript: ENSMUST00000132705
AA Change: K38E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115633
Gene: ENSMUSG00000048922
AA Change: K38E

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: K38E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117847
Gene: ENSMUSG00000048922
AA Change: K38E

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 damaging
Transcript: ENSMUST00000163100
AA Change: K38E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
AA Change: K38E

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 noncoding transcript
Transcript: ENSMUST00000155312
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: 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: ENSMUST00000156700
SMART Domains Protein: ENSMUSP00000115002
Gene: ENSMUSG00000034327

DomainStartEndE-ValueType
Pfam:DUF3354 1 65 2.5e-23 PFAM
SCOP:d3kvt__ 89 107 9e-4 SMART
Meta Mutation Damage Score 0.0839 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (59/60)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik C T 8: 88,312,691 (GRCm39) Q159* probably null Het
Abca12 C A 1: 71,302,647 (GRCm39) V2191L probably benign Het
Adam34 A G 8: 44,105,538 (GRCm39) Y36H probably benign Het
Adprm A G 11: 66,929,055 (GRCm39) V312A probably benign Het
Anapc2 T C 2: 25,162,682 (GRCm39) L52P probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Apoc4 T A 7: 19,412,560 (GRCm39) T62S probably damaging Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Arhgap32 A G 9: 32,027,436 (GRCm39) E2G possibly damaging Het
Atg4c C A 4: 99,109,463 (GRCm39) N143K possibly damaging Het
C1qtnf12 A G 4: 156,050,922 (GRCm39) N297S probably benign Het
Cadps2 G T 6: 23,838,998 (GRCm39) probably benign Het
Ccdc63 C G 5: 122,265,628 (GRCm39) A71P possibly damaging Het
Cyp2j11 G A 4: 96,204,595 (GRCm39) T317I probably damaging Het
Dab2 T C 15: 6,446,398 (GRCm39) V5A probably benign Het
Dennd3 A T 15: 73,426,909 (GRCm39) H762L probably benign Het
Disp1 A G 1: 182,869,936 (GRCm39) F828S probably damaging Het
Dnah2 T C 11: 69,406,587 (GRCm39) M552V probably benign Het
Dock2 A G 11: 34,179,472 (GRCm39) probably null Het
Dsel A T 1: 111,787,987 (GRCm39) N849K probably benign Het
Fah A T 7: 84,244,042 (GRCm39) I239N probably damaging Het
Flt4 T C 11: 49,536,824 (GRCm39) Y1265H probably benign Het
Ghdc T C 11: 100,660,018 (GRCm39) E243G probably benign Het
Glb1 T C 9: 114,279,716 (GRCm39) Y375H probably damaging Het
Gm6619 A G 6: 131,466,021 (GRCm39) I40V probably benign Het
Gpld1 T C 13: 25,146,630 (GRCm39) V225A probably benign Het
Hectd4 T C 5: 121,391,921 (GRCm39) probably benign Het
Igdcc4 A G 9: 65,032,617 (GRCm39) I542V possibly damaging Het
Igsf9b T C 9: 27,245,633 (GRCm39) L1200P probably damaging Het
Itgb7 C T 15: 102,130,553 (GRCm39) V378M probably damaging Het
Krt84 T C 15: 101,438,019 (GRCm39) E312G possibly damaging Het
Man2a2 A G 7: 80,017,532 (GRCm39) W250R probably damaging Het
Mcam T C 9: 44,047,932 (GRCm39) V59A probably damaging Het
Mfrp T C 9: 44,015,015 (GRCm39) L314P probably benign Het
Mgat5 T C 1: 127,396,987 (GRCm39) V578A probably damaging Het
Mycbp2 G A 14: 103,393,358 (GRCm39) H3068Y probably damaging Het
Myh1 A C 11: 67,113,234 (GRCm39) D1873A probably benign Het
Nek9 A G 12: 85,376,677 (GRCm39) W235R probably damaging Het
Or9g19 T C 2: 85,600,342 (GRCm39) S66P probably damaging Het
Parvb A G 15: 84,116,369 (GRCm39) K33E possibly damaging Het
Pecr T C 1: 72,316,517 (GRCm39) R63G possibly damaging Het
Pkhd1l1 T G 15: 44,363,378 (GRCm39) probably null Het
Plekha5 T C 6: 140,516,129 (GRCm39) V270A probably damaging Het
Prr14l T C 5: 32,988,046 (GRCm39) D483G probably benign Het
Rimkla T A 4: 119,331,779 (GRCm39) M140L possibly damaging Het
Senp1 C T 15: 97,956,196 (GRCm39) V408I possibly damaging Het
Stambpl1 T A 19: 34,204,104 (GRCm39) Y65N probably damaging Het
Tada2a T C 11: 83,970,455 (GRCm39) D432G probably damaging Het
Themis T A 10: 28,544,723 (GRCm39) I23N probably damaging Het
Thnsl1 T C 2: 21,217,344 (GRCm39) I366T probably benign Het
Tmem131 C A 1: 36,851,690 (GRCm39) V938L probably benign Het
Tmem178b A T 6: 40,184,435 (GRCm39) Q111L probably damaging Het
Vmn1r195 C G 13: 22,462,934 (GRCm39) L135V possibly damaging Het
Vmn2r-ps36 C T 7: 7,431,539 (GRCm39) noncoding transcript Het
Zfp956 G A 6: 47,940,805 (GRCm39) R388H probably damaging Het
Zfr2 T G 10: 81,077,950 (GRCm39) V259G 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
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
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'- TGTCAGGCAGTACAGACATG -3'
(R):5'- GAGTTCACACGACAAGCCTC -3'

Sequencing Primer
(F):5'- AATTGGGGCCTACTACAGTTACTG -3'
(R):5'- CTCTCTCTGAATCCAAGGAGTGTG -3'
Posted On 2014-10-01