Incidental Mutation 'R8490:Cdkn2a'
ID 657940
Institutional Source Beutler Lab
Gene Symbol Cdkn2a
Ensembl Gene ENSMUSG00000044303
Gene Name cyclin dependent kinase inhibitor 2A
Synonyms p16, Ink4a/Arf, MTS1, p19ARF, p16INK4a, p19, Pctr1, Arf, INK4a-ARF, ARF-INK4a
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8490 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 89192710-89212856 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 89212759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000102748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107131]
AlphaFold Q64364
PDB Structure SOLUTION STRUCTURE OF THE N-TERMINAL 37 AMINO ACIDS OF THE MOUSE ARF TUMOR SUPPRESSOR PROTEIN [SOLUTION NMR]
Predicted Effect probably null
Transcript: ENSMUST00000107131
AA Change: M1K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000102748
Gene: ENSMUSG00000044303
AA Change: M1K

DomainStartEndE-ValueType
Blast:ANK 1 21 2e-6 BLAST
ANK 26 55 2.8e0 SMART
ANK 59 88 6.3e-1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (52/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012]
PHENOTYPE: Null mutants of p16INK4a or p19ARF proteins each show increased tumor susceptibility and sensitivity to carcinogens. Loss of both gives very early onset. p19ARF nulls also show thymic hyperplasia and the eye's hyaloid vascular system fails to regress. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T G 1: 71,323,256 (GRCm39) K1609Q probably damaging Het
Arl5a A G 2: 52,314,614 (GRCm39) F12L probably benign Het
Armc9 C T 1: 86,202,125 (GRCm39) T761I probably benign Het
Bmp1 A G 14: 70,727,573 (GRCm39) F670S possibly damaging Het
Cd34 T C 1: 194,621,281 (GRCm39) V3A probably benign Het
Cep135 C A 5: 76,786,054 (GRCm39) H1052Q probably benign Het
Cfap100 T C 6: 90,390,721 (GRCm39) probably benign Het
Cib4 A T 5: 30,703,075 (GRCm39) Y17N probably damaging Het
Col3a1 T G 1: 45,385,116 (GRCm39) S78A probably benign Het
Crebzf A G 7: 90,092,706 (GRCm39) M162V probably benign Het
Dbx2 T A 15: 95,552,454 (GRCm39) M64L possibly damaging Het
Epb41l2 A T 10: 25,380,128 (GRCm39) T884S probably damaging Het
Erich3 T A 3: 154,401,461 (GRCm39) S37T Het
Eya1 G T 1: 14,254,899 (GRCm39) Q383K possibly damaging Het
Gm15130 A T 2: 110,983,230 (GRCm39) probably null Het
Ido1 A T 8: 25,086,954 (GRCm39) M1K probably null Het
Loxhd1 C T 18: 77,529,162 (GRCm39) T1069M possibly damaging Het
Lrrtm2 T G 18: 35,346,451 (GRCm39) probably null Het
Map1a C T 2: 121,135,045 (GRCm39) H1716Y possibly damaging Het
Mycbp2 T A 14: 103,446,267 (GRCm39) T1854S probably benign Het
Myh13 T C 11: 67,255,351 (GRCm39) S1574P probably damaging Het
Neu1 G A 17: 35,150,982 (GRCm39) A78T probably benign Het
Nfam1 T C 15: 82,907,238 (GRCm39) probably benign Het
Or1e27-ps1 T A 11: 73,555,675 (GRCm39) L80Q probably damaging Het
Or4c10b A C 2: 89,711,511 (GRCm39) T114P probably damaging Het
Or8k33 A T 2: 86,384,027 (GRCm39) M147K probably benign Het
Pdgfra T C 5: 75,331,329 (GRCm39) probably null Het
Ptgfrn A T 3: 100,963,686 (GRCm39) M642K probably damaging Het
R3hdm1 T A 1: 128,162,864 (GRCm39) H980Q probably benign Het
Rfc2 C A 5: 134,611,698 (GRCm39) S19* probably null Het
Rhbdf1 C A 11: 32,160,162 (GRCm39) S738I probably damaging Het
Rif1 T A 2: 52,001,011 (GRCm39) N1488K probably damaging Het
Rnf31 G A 14: 55,833,566 (GRCm39) V525I probably damaging Het
Rps27a T C 11: 29,496,719 (GRCm39) D58G probably benign Het
Serpinc1 T G 1: 160,817,028 (GRCm39) C41G probably damaging Het
Siglece A T 7: 43,309,486 (GRCm39) V24D probably benign Het
Sparcl1 T A 5: 104,233,574 (GRCm39) R592W probably null Het
Stard13 A G 5: 150,987,090 (GRCm39) S104P probably damaging Het
Ston2 A G 12: 91,614,905 (GRCm39) V501A possibly damaging Het
Sv2b C A 7: 74,855,833 (GRCm39) probably null Het
Tiam1 T C 16: 89,681,932 (GRCm39) R349G probably damaging Het
Tmprss11g A G 5: 86,639,976 (GRCm39) probably null Het
Tnik G T 3: 28,650,321 (GRCm39) R507L probably damaging Het
Trabd2b G T 4: 114,460,113 (GRCm39) S417I probably damaging Het
Ube2q1 T A 3: 89,681,308 (GRCm39) V97E probably benign Het
Vim A T 2: 13,584,265 (GRCm39) N306Y probably damaging Het
Vmn1r216 G T 13: 23,283,979 (GRCm39) A221S possibly damaging Het
Vmn2r113 G A 17: 23,177,372 (GRCm39) A719T probably benign Het
Vmn2r66 A G 7: 84,654,794 (GRCm39) probably null Het
Vps45 T C 3: 95,948,661 (GRCm39) S365G probably benign Het
Zzz3 T A 3: 152,134,290 (GRCm39) C449* probably null Het
Other mutations in Cdkn2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01936:Cdkn2a APN 4 89,212,569 (GRCm39) critical splice donor site probably null 0.00
R0158:Cdkn2a UTSW 4 89,195,004 (GRCm39) missense possibly damaging 0.92
R2073:Cdkn2a UTSW 4 89,212,730 (GRCm39) missense possibly damaging 0.71
R4787:Cdkn2a UTSW 4 89,194,955 (GRCm39) missense unknown
R5679:Cdkn2a UTSW 4 89,195,098 (GRCm39) missense possibly damaging 0.88
R6863:Cdkn2a UTSW 4 89,193,003 (GRCm39) missense probably benign
R8344:Cdkn2a UTSW 4 89,194,987 (GRCm39) missense probably benign 0.17
R8348:Cdkn2a UTSW 4 89,200,291 (GRCm39) missense possibly damaging 0.58
R8448:Cdkn2a UTSW 4 89,200,291 (GRCm39) missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- ACTCCATCTCCCGGGAACTAAG -3'
(R):5'- ACCCGAAAGTTAACCGGAGC -3'

Sequencing Primer
(F):5'- TCCCGGGAACTAAGCCGAAG -3'
(R):5'- CGCCTCTGGGAAGCTTTC -3'
Posted On 2021-01-18