Incidental Mutation 'R5679:Cdkn2a'
ID 442924
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
MMRRC Submission 043176-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5679 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 89192710-89212856 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89195098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 84 (D84G)
Ref Sequence ENSEMBL: ENSMUSP00000061847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060501] [ENSMUST00000107131]
AlphaFold Q64364
Predicted Effect possibly damaging
Transcript: ENSMUST00000060501
AA Change: D84G

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000061847
Gene: ENSMUSG00000044303
AA Change: D84G

DomainStartEndE-ValueType
ANK 3 32 1.53e3 SMART
ANK 36 64 4.07e-1 SMART
ANK 69 98 4.44e2 SMART
ANK 102 131 1.01e2 SMART
Predicted Effect silent
Transcript: ENSMUST00000107131
SMART Domains Protein: ENSMUSP00000102748
Gene: ENSMUSG00000044303

DomainStartEndE-ValueType
Blast:ANK 1 21 2e-6 BLAST
ANK 26 55 2.8e0 SMART
ANK 59 88 6.3e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129527
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3a1 G A 11: 61,107,994 (GRCm39) R346Q probably benign Het
Bcat1 A T 6: 144,953,474 (GRCm39) F304L probably damaging Het
Ccdc178 T G 18: 22,200,486 (GRCm39) K439N probably benign Het
Chst8 T A 7: 34,374,729 (GRCm39) H370L probably damaging Het
Dimt1 A G 13: 107,084,108 (GRCm39) T32A possibly damaging Het
Dph6 T C 2: 114,398,422 (GRCm39) I162V probably benign Het
E230025N22Rik C T 18: 36,818,435 (GRCm39) G465R possibly damaging Het
Fam3d T C 14: 8,349,305 (GRCm38) E215G probably damaging Het
Fbxw7 T A 3: 84,884,794 (GRCm39) N612K probably damaging Het
Gpr179 A G 11: 97,227,571 (GRCm39) V1528A probably benign Het
Gucy2g T A 19: 55,219,511 (GRCm39) K370N possibly damaging Het
Ipo13 A T 4: 117,752,029 (GRCm39) W903R probably damaging Het
Itgax T A 7: 127,734,162 (GRCm39) H311Q probably benign Het
Kmt2d T C 15: 98,752,153 (GRCm39) probably benign Het
Lox T C 18: 52,661,989 (GRCm39) N138S probably benign Het
Mre11a T A 9: 14,698,215 (GRCm39) I21N probably damaging Het
Ncan T G 8: 70,565,276 (GRCm39) Y217S probably damaging Het
Nfil3 A G 13: 53,122,527 (GRCm39) F126L possibly damaging Het
Nfu1 T C 6: 86,996,379 (GRCm39) V110A probably damaging Het
Or12e8 T C 2: 87,187,889 (GRCm39) F34L possibly damaging Het
Or5e1 A G 7: 108,354,203 (GRCm39) I47V probably damaging Het
Or5g9 A T 2: 85,552,390 (GRCm39) I214F probably damaging Het
Palld T C 8: 62,137,979 (GRCm39) Q592R possibly damaging Het
Pcdhac1 T A 18: 37,225,530 (GRCm39) L781Q probably damaging Het
Rcl1 A G 19: 29,098,658 (GRCm39) probably null Het
Saxo1 C T 4: 86,363,272 (GRCm39) V404I possibly damaging Het
Scrt1 T A 15: 76,403,262 (GRCm39) T243S unknown Het
Slc22a30 G T 19: 8,313,135 (GRCm39) T550K possibly damaging Het
Strc A G 2: 121,198,581 (GRCm39) S1437P probably benign Het
Tecpr1 T A 5: 144,144,241 (GRCm39) I654F possibly damaging Het
Tfcp2l1 A G 1: 118,596,377 (GRCm39) M371V probably benign Het
Vmn2r11 T C 5: 109,202,708 (GRCm39) N123S probably benign Het
Wdr81 T C 11: 75,343,749 (GRCm39) D506G probably damaging Het
Xylt1 A G 7: 117,242,877 (GRCm39) D640G probably damaging Het
Zfp148 T G 16: 33,316,156 (GRCm39) M276R probably damaging Het
Zfp329 G A 7: 12,543,958 (GRCm39) T522I probably damaging 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
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
R8490:Cdkn2a UTSW 4 89,212,759 (GRCm39) start codon destroyed probably null 0.02
Predicted Primers PCR Primer
(F):5'- TTCCCAGCGGTACACAAAG -3'
(R):5'- CTGATCCGAGTAGTTAACAGCGG -3'

Sequencing Primer
(F):5'- GCGGTACACAAAGACCACC -3'
(R):5'- AGCTTCGTACATAGGGCTTC -3'
Posted On 2016-11-09