Incidental Mutation 'R8083:Cdkn3'
ID 629478
Institutional Source Beutler Lab
Gene Symbol Cdkn3
Ensembl Gene ENSMUSG00000037628
Gene Name cyclin dependent kinase inhibitor 3
Synonyms 2410006H10Rik, KAP
MMRRC Submission 067516-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8083 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 46997912-47008987 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 47000058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 28 (Q28L)
Ref Sequence ENSEMBL: ENSMUSP00000070575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067426] [ENSMUST00000227149] [ENSMUST00000228106]
AlphaFold Q810P3
Predicted Effect probably benign
Transcript: ENSMUST00000067426
AA Change: Q28L

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000070575
Gene: ENSMUSG00000037628
AA Change: Q28L

DomainStartEndE-ValueType
PTPc_DSPc 7 197 2.8e-3 SMART
low complexity region 199 210 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000227149
AA Change: Q28L

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228106
AA Change: Q28L

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 95.5%
Validation Efficiency 98% (51/52)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,282,987 (GRCm39) E255G possibly damaging Het
Abcg5 A T 17: 84,965,971 (GRCm39) L635Q probably damaging Het
Acsl3 G A 1: 78,669,844 (GRCm39) D238N probably damaging Het
Adam32 A T 8: 25,362,752 (GRCm39) C558S probably damaging Het
Adamtsl4 C T 3: 95,591,711 (GRCm39) V126M possibly damaging Het
Apobec1 G A 6: 122,555,888 (GRCm39) P190S probably damaging Het
Arel1 A T 12: 84,987,136 (GRCm39) H93Q probably benign Het
Bpifa2 T G 2: 153,852,412 (GRCm39) V96G probably damaging Het
Cacna1s G A 1: 136,023,529 (GRCm39) V923I possibly damaging Het
Caprin2 A C 6: 148,744,346 (GRCm39) Y1026* probably null Het
Cdk8 T G 5: 146,205,100 (GRCm39) W34G probably damaging Het
Cfap58 A G 19: 47,971,957 (GRCm39) E629G probably damaging Het
Chaf1b T A 16: 93,691,630 (GRCm39) C255S probably damaging Het
Clcn4 A G 7: 7,294,427 (GRCm39) F445L possibly damaging Het
Cpne6 A C 14: 55,750,698 (GRCm39) I140L probably benign Het
Cyp2b23 C A 7: 26,385,828 (GRCm39) A10S possibly damaging Het
Eci3 G T 13: 35,140,873 (GRCm39) T103K probably benign Het
Eri3 T A 4: 117,450,359 (GRCm39) M253K probably damaging Het
Gm21103 C T 14: 17,482,895 (GRCm39) V169M possibly damaging Het
Gm6594 G A 17: 82,846,897 (GRCm39) A71T probably benign Het
Gns T C 10: 121,214,008 (GRCm39) S228P probably damaging Het
Hbegf A T 18: 36,648,224 (GRCm39) S46T probably benign Het
Hcn1 GCAACAACA GCAACAACAACA 13: 118,112,296 (GRCm39) probably benign Het
Mcf2l T A 8: 13,057,875 (GRCm39) probably null Het
Nfasc T C 1: 132,524,320 (GRCm39) D846G probably benign Het
Nt5dc2 A G 14: 30,856,783 (GRCm39) Y103C probably damaging Het
Osbpl9 C T 4: 108,943,572 (GRCm39) V147M possibly damaging Het
Pid1 T C 1: 84,015,970 (GRCm39) I146V probably benign Het
Rangap1 A G 15: 81,603,101 (GRCm39) I108T probably benign Het
Rbm12b1 T C 4: 12,146,409 (GRCm39) Y794H probably damaging Het
Rprd1b T C 2: 157,892,052 (GRCm39) S192P probably damaging Het
Sacs A T 14: 61,448,166 (GRCm39) D3404V possibly damaging Het
Setd5 G T 6: 113,091,971 (GRCm39) G264V probably damaging Het
Tagln2 A T 1: 172,332,766 (GRCm39) I18F possibly damaging Het
Tex51 T C 18: 32,591,807 (GRCm39) probably null Het
Ttc17 C A 2: 94,204,909 (GRCm39) V338F probably damaging Het
Xirp2 T A 2: 67,339,043 (GRCm39) M428K possibly damaging Het
Zfp503 A T 14: 22,036,132 (GRCm39) D261E probably damaging Het
Zfp784 T C 7: 5,038,905 (GRCm39) T218A possibly damaging Het
Zp3 A C 5: 136,013,376 (GRCm39) D236A probably damaging 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
R7234:Cdkn3 UTSW 14 47,008,918 (GRCm39) missense unknown
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'- CCCAGATTAATGACTGAGAAAACTGC -3'
(R):5'- TGGGCATTACTGTTTCTCTCAG -3'

Sequencing Primer
(F):5'- ACTGCAAATATTAATTCAGTGGGTG -3'
(R):5'- TAGACTAGGCTGGCCTTGAACTC -3'
Posted On 2020-06-30