Incidental Mutation 'R7234:Cdkn3'
ID 562717
Institutional Source Beutler Lab
Gene Symbol Cdkn3
Ensembl Gene ENSMUSG00000037628
Gene Name cyclin dependent kinase inhibitor 3
Synonyms 2410006H10Rik, KAP
MMRRC Submission 045304-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7234 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 46997912-47008987 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47008918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 204 (S204P)
Ref Sequence ENSEMBL: ENSMUSP00000070575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015903] [ENSMUST00000067426] [ENSMUST00000146629] [ENSMUST00000227149] [ENSMUST00000228106]
AlphaFold Q810P3
Predicted Effect probably benign
Transcript: ENSMUST00000015903
SMART Domains Protein: ENSMUSP00000015903
Gene: ENSMUSG00000015759

DomainStartEndE-ValueType
Pfam:Cornichon 1 136 3e-50 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000067426
AA Change: S204P
SMART Domains Protein: ENSMUSP00000070575
Gene: ENSMUSG00000037628
AA Change: S204P

DomainStartEndE-ValueType
PTPc_DSPc 7 197 2.8e-3 SMART
low complexity region 199 210 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146629
SMART Domains Protein: ENSMUSP00000116885
Gene: ENSMUSG00000015759

DomainStartEndE-ValueType
Pfam:Cornichon 1 60 7.7e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227149
Predicted Effect probably benign
Transcript: ENSMUST00000228106
Meta Mutation Damage Score 0.0853 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the dual specificity protein phosphatase family. It was identified as a cyclin-dependent kinase inhibitor, and has been shown to interact with, and dephosphorylate CDK2 kinase, thus prevent the activation of CDK2 kinase. This gene was reported to be deleted, mutated, or overexpressed in several kinds of cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Allele List at MGI

All alleles(2) : Targeted(2)
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy3 T A 19: 4,037,758 (GRCm39) Y88* probably null Het
AI606181 T A 19: 41,582,076 (GRCm39) I82N unknown Het
Akap1 T C 11: 88,729,808 (GRCm39) Y638C probably damaging Het
Angpt1 T C 15: 42,323,121 (GRCm39) N383D probably benign Het
Ank T C 15: 27,571,742 (GRCm39) probably null Het
Aoc1 C T 6: 48,882,750 (GRCm39) Q209* probably null Het
Apol7c A T 15: 77,409,875 (GRCm39) L357* probably null Het
Atxn2l A G 7: 126,092,373 (GRCm39) L958P probably damaging Het
Cab39l T A 14: 59,734,395 (GRCm39) probably null Het
Cdk5rap2 A G 4: 70,295,024 (GRCm39) probably null Het
Cds2 T C 2: 132,146,400 (GRCm39) probably null Het
Cideb C T 14: 55,992,017 (GRCm39) R179H probably benign Het
Cped1 A G 6: 22,254,625 (GRCm39) Q1006R probably damaging Het
Csmd2 A G 4: 128,350,572 (GRCm39) Y1547C Het
Dicer1 A G 12: 104,675,108 (GRCm39) L718S probably damaging Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Dyrk2 T C 10: 118,696,136 (GRCm39) H374R possibly damaging Het
Edem2 A T 2: 155,552,886 (GRCm39) Y283N probably benign Het
Ero1b A T 13: 12,615,203 (GRCm39) S345C possibly damaging Het
Fam83g T C 11: 61,593,342 (GRCm39) V292A possibly damaging Het
Farp2 A G 1: 93,507,841 (GRCm39) D513G possibly damaging Het
Fbxl5 A G 5: 43,915,562 (GRCm39) W617R probably benign Het
Fzd7 G A 1: 59,522,443 (GRCm39) V109M probably damaging Het
Gbp5 A T 3: 142,226,898 (GRCm39) H583L probably benign Het
Gm10306 T A 4: 94,445,032 (GRCm39) L84M unknown Het
Gsap A G 5: 21,391,433 (GRCm39) T25A probably benign Het
Hectd4 G T 5: 121,467,136 (GRCm39) R2466L possibly damaging Het
Ide C A 19: 37,268,184 (GRCm39) C557F Het
Ift70a2 A T 2: 75,806,540 (GRCm39) Y657* probably null Het
Igdcc4 T A 9: 65,042,750 (GRCm39) C1234* probably null Het
Ints4 A G 7: 97,179,507 (GRCm39) I701V probably benign Het
Kalrn T A 16: 33,996,792 (GRCm39) I1467F possibly damaging Het
Kcnip3 C A 2: 127,363,256 (GRCm39) R2M unknown Het
Kcnrg A T 14: 61,845,531 (GRCm39) E190D unknown Het
Klk13 T C 7: 43,370,841 (GRCm39) L131P probably damaging Het
Lhcgr A T 17: 89,099,359 (GRCm39) L14Q possibly damaging Het
Mdm4 A T 1: 132,938,853 (GRCm39) D80E probably damaging Het
Mib2 G T 4: 155,742,350 (GRCm39) Q311K probably damaging Het
Msantd5f9 G T 4: 73,835,808 (GRCm39) L219M probably benign Het
Mycbp2 A T 14: 103,452,773 (GRCm39) S1703T probably damaging Het
Naip6 A T 13: 100,452,011 (GRCm39) C200* probably null Het
Ncapd3 T A 9: 26,961,655 (GRCm39) I361N probably damaging Het
Nom1 A G 5: 29,640,451 (GRCm39) E259G probably benign Het
Or10j5 T A 1: 172,784,673 (GRCm39) F104I probably damaging Het
Or51v14 A G 7: 103,261,089 (GRCm39) L157P probably damaging Het
Plxna2 A T 1: 194,488,698 (GRCm39) H1658L probably damaging Het
Ranbp6 T C 19: 29,789,462 (GRCm39) T297A possibly damaging Het
Rap1gap T A 4: 137,455,851 (GRCm39) C722* probably null Het
Ribc2 A G 15: 85,019,733 (GRCm39) K172E probably benign Het
Scamp5 C A 9: 57,354,423 (GRCm39) W77L probably damaging Het
Scin T A 12: 40,130,957 (GRCm39) K319* probably null Het
Sec16a G T 2: 26,329,780 (GRCm39) T745K probably damaging Het
Slc15a2 G A 16: 36,578,173 (GRCm39) A403V probably benign Het
Slco6c1 A G 1: 97,053,466 (GRCm39) V145A probably benign Het
Sncaip C T 18: 53,048,416 (GRCm39) H951Y probably benign Het
Spem1 A G 11: 69,712,630 (GRCm39) probably null Het
Spen C T 4: 141,206,446 (GRCm39) R727Q unknown Het
Thra T C 11: 98,654,544 (GRCm39) S305P probably damaging Het
Tlr1 A G 5: 65,084,067 (GRCm39) V170A probably damaging Het
Tmem260 T A 14: 48,742,786 (GRCm39) C388* probably null Het
Tmem60 T A 5: 21,091,619 (GRCm39) V128D possibly damaging Het
Tpo G A 12: 30,142,685 (GRCm39) P680S probably benign Het
Umodl1 A G 17: 31,205,595 (GRCm39) E730G possibly damaging Het
Vmn2r69 T C 7: 85,056,315 (GRCm39) T608A probably benign Het
Xrra1 G A 7: 99,563,456 (GRCm39) S481N possibly damaging Het
Zc3h4 G A 7: 16,162,961 (GRCm39) V446I unknown Het
Other mutations in Cdkn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
E0374:Cdkn3 UTSW 14 47,004,630 (GRCm39) splice site probably null
R0033:Cdkn3 UTSW 14 47,006,329 (GRCm39) nonsense probably null
R0033:Cdkn3 UTSW 14 47,006,329 (GRCm39) nonsense probably null
R0445:Cdkn3 UTSW 14 47,004,857 (GRCm39) critical splice donor site probably null
R1912:Cdkn3 UTSW 14 47,007,291 (GRCm39) critical splice acceptor site probably null
R3176:Cdkn3 UTSW 14 47,008,934 (GRCm39) unclassified probably benign
R3276:Cdkn3 UTSW 14 47,008,934 (GRCm39) unclassified probably benign
R4941:Cdkn3 UTSW 14 47,007,320 (GRCm39) missense possibly damaging 0.90
R5344:Cdkn3 UTSW 14 47,004,807 (GRCm39) missense possibly damaging 0.94
R5964:Cdkn3 UTSW 14 47,004,674 (GRCm39) missense probably null 1.00
R6039:Cdkn3 UTSW 14 47,007,373 (GRCm39) missense probably damaging 1.00
R6039:Cdkn3 UTSW 14 47,007,373 (GRCm39) missense probably damaging 1.00
R7073:Cdkn3 UTSW 14 47,004,647 (GRCm39) missense possibly damaging 0.79
R8083:Cdkn3 UTSW 14 47,000,058 (GRCm39) missense probably benign 0.06
R8314:Cdkn3 UTSW 14 47,007,330 (GRCm39) synonymous silent
R8948:Cdkn3 UTSW 14 47,004,780 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCTACAGAATCTGCCCCTCC -3'
(R):5'- CCCTCTGCTGTGATACAACACC -3'

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