Incidental Mutation 'R6076:Cdkn1a'
ID 482766
Institutional Source Beutler Lab
Gene Symbol Cdkn1a
Ensembl Gene ENSMUSG00000023067
Gene Name cyclin dependent kinase inhibitor 1A
Synonyms P21, CIP1, SDI1, p21, CAP20, mda6, p21Cip1, Cdkn1, CDKI, Waf1, p21WAF
MMRRC Submission 044237-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6076 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 29309953-29319696 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29318332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 149 (K149E)
Ref Sequence ENSEMBL: ENSMUSP00000112411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023829] [ENSMUST00000119901] [ENSMUST00000122348]
AlphaFold P39689
Predicted Effect probably damaging
Transcript: ENSMUST00000023829
AA Change: K149E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023829
Gene: ENSMUSG00000023067
AA Change: K149E

DomainStartEndE-ValueType
Pfam:CDI 19 67 8.1e-23 PFAM
PDB:2ZVW|P 134 154 8e-6 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000119901
AA Change: K149E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113150
Gene: ENSMUSG00000023067
AA Change: K149E

DomainStartEndE-ValueType
Pfam:CDI 18 68 6.9e-24 PFAM
PDB:2ZVW|P 134 154 8e-6 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000122348
AA Change: K149E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112411
Gene: ENSMUSG00000023067
AA Change: K149E

DomainStartEndE-ValueType
Pfam:CDI 18 68 6.9e-24 PFAM
PDB:2ZVW|P 134 154 8e-6 PDB
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or cyclin-dependent kinase4 complexes, and thus functions as a regulator of cell cycle progression at the G1 pahse. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen, a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of cyclin-dependent kinase2, and may be instrumental in the execution of apoptosis following caspase activation. Mice that lack this gene have the ability to regenerate damaged or missing tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for knock-out alleles exhibit increased spontaneous tumorigenesis, altered resistance to induced tumors, abnormal immune system morphology and physiology, delayed cellular senescence, abnormal response to xenobiotics and injury, and autoimmunity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Atp6v0a1 T A 11: 100,945,886 (GRCm39) I723N probably damaging Het
C530025M09Rik T C 2: 149,672,670 (GRCm39) probably benign Het
Cep70 T A 9: 99,180,558 (GRCm39) I571N probably damaging Het
Cimip4 T C 15: 78,270,427 (GRCm39) R114G possibly damaging Het
Col9a1 A T 1: 24,234,457 (GRCm39) probably benign Het
Csde1 G A 3: 102,948,545 (GRCm39) D132N possibly damaging Het
Dlk1 A G 12: 109,425,895 (GRCm39) Q256R probably damaging Het
Epha6 A T 16: 60,026,073 (GRCm39) D456E probably damaging Het
Ephx2 A G 14: 66,330,297 (GRCm39) V354A probably damaging Het
Fpr-rs4 A G 17: 18,242,317 (GRCm39) N108S probably damaging Het
Gimap1 C T 6: 48,719,521 (GRCm39) Q116* probably null Het
Gm10784 T C 13: 50,099,310 (GRCm39) noncoding transcript Het
Grid2ip G C 5: 143,373,130 (GRCm39) S736T probably benign Het
Hic1 T C 11: 75,058,154 (GRCm39) D245G probably damaging Het
Hpcal4 C A 4: 123,084,514 (GRCm39) Q148K probably benign Het
Hspa14 C T 2: 3,512,109 (GRCm39) S55N probably benign Het
Hspa1b G A 17: 35,176,473 (GRCm39) T504I probably damaging Het
Jchain G T 5: 88,675,631 (GRCm39) T3N probably benign Het
Kl C G 5: 150,876,466 (GRCm39) F95L probably damaging Het
Kndc1 A G 7: 139,481,954 (GRCm39) T115A probably damaging Het
Lrp8 G T 4: 107,704,656 (GRCm39) R292L possibly damaging Het
Lrrc15 T A 16: 30,091,806 (GRCm39) D511V probably benign Het
Mapk8 A G 14: 33,112,250 (GRCm39) C213R probably damaging Het
Mcph1 C T 8: 18,682,015 (GRCm39) P384L probably benign Het
Mrps7 T C 11: 115,495,713 (GRCm39) S84P probably damaging Het
Nceh1 A C 3: 27,333,344 (GRCm39) I147L probably benign Het
Noxa1 A T 2: 24,975,821 (GRCm39) I409N probably damaging Het
Or1p1c T C 11: 74,161,088 (GRCm39) I291T probably damaging Het
Pkd1 G A 17: 24,800,004 (GRCm39) G2975R probably benign Het
Ppip5k1 T C 2: 121,167,591 (GRCm39) D17G probably null Het
Prex2 T A 1: 11,256,174 (GRCm39) Y1182N probably benign Het
Rasa2 T C 9: 96,427,699 (GRCm39) N722S probably benign Het
Rcc1l A G 5: 134,198,167 (GRCm39) V155A possibly damaging Het
Rest A G 5: 77,430,821 (GRCm39) E1080G unknown Het
Sacs A T 14: 61,441,985 (GRCm39) K1344* probably null Het
Sec16a C T 2: 26,313,954 (GRCm39) E1884K probably damaging Het
Secisbp2 C A 13: 51,833,813 (GRCm39) T651K probably damaging Het
Sema3e A G 5: 14,291,100 (GRCm39) D620G probably benign Het
Slc6a17 A G 3: 107,379,387 (GRCm39) S553P possibly damaging Het
Smpd5 C A 15: 76,179,092 (GRCm39) N153K probably damaging Het
Ube2d4 T A 15: 58,718,992 (GRCm39) noncoding transcript Het
Vps13c A G 9: 67,818,884 (GRCm39) I1102V probably damaging Het
Wdr36 C A 18: 32,979,998 (GRCm39) S241Y probably damaging Het
Wdr7 T A 18: 63,872,348 (GRCm39) D427E probably damaging Het
Zfp945 G A 17: 23,070,432 (GRCm39) P489L probably damaging Het
Other mutations in Cdkn1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Cdkn1a APN 17 29,317,494 (GRCm39) missense possibly damaging 0.83
IGL00495:Cdkn1a APN 17 29,317,494 (GRCm39) missense possibly damaging 0.83
IGL00516:Cdkn1a APN 17 29,317,494 (GRCm39) missense possibly damaging 0.83
IGL02409:Cdkn1a APN 17 29,317,428 (GRCm39) missense probably benign
R1812:Cdkn1a UTSW 17 29,317,539 (GRCm39) missense probably benign
R7504:Cdkn1a UTSW 17 29,317,488 (GRCm39) missense probably damaging 1.00
R8035:Cdkn1a UTSW 17 29,318,350 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- ATGCCCAGGATAGTGTGGTG -3'
(R):5'- GCAGGCAGCGTATATACAGG -3'

Sequencing Primer
(F):5'- CAGATGAGGGCACTTACTCTTGC -3'
(R):5'- GCAGCGTATATACAGGAGACG -3'
Posted On 2017-07-14