Incidental Mutation 'R0487:Cdkn2c'
ID 42330
Institutional Source Beutler Lab
Gene Symbol Cdkn2c
Ensembl Gene ENSMUSG00000028551
Gene Name cyclin dependent kinase inhibitor 2C
Synonyms p18INK4c, p18, INK4c
MMRRC Submission 038686-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0487 (G1)
Quality Score 204
Status Not validated
Chromosome 4
Chromosomal Location 109518073-109523953 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109518606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 116 (L116P)
Ref Sequence ENSEMBL: ENSMUSP00000095534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063531] [ENSMUST00000097921]
AlphaFold Q60772
Predicted Effect probably damaging
Transcript: ENSMUST00000063531
AA Change: L116P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070313
Gene: ENSMUSG00000028551
AA Change: L116P

DomainStartEndE-ValueType
low complexity region 24 35 N/A INTRINSIC
ANK 37 65 2.79e1 SMART
ANK 69 98 1.54e-1 SMART
ANK 102 132 2.25e-3 SMART
ANK 136 166 1.9e3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000097921
AA Change: L116P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095534
Gene: ENSMUSG00000028551
AA Change: L116P

DomainStartEndE-ValueType
low complexity region 24 35 N/A INTRINSIC
ANK 37 65 2.79e1 SMART
ANK 69 98 1.54e-1 SMART
ANK 102 132 2.25e-3 SMART
ANK 136 166 1.9e3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125237
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131216
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156790
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.6%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase (cdk) inhibitors, and contains five ankyrin repeats. This protein interacts with both Cdk4 and Cdk6 to inhibit their kinase activities, and prevent their interactions with D-type cyclins, thereby negatively regulating cell division. This gene is differentially expressed in a variety of tissues, and is cell cycle regulated. Deletion of this gene can lead to tumor growth. Maximal expression is observed at the G2/M phase. Alternative splicing and promoter usage results in multiple transript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Homozygotes for targeted null mutations exhibit kidney and mammary gland cortical cysts, Leydig cell hyperplasia, reduced testosterone levels, late developing thymic lymphomas and pituitary tumors, gigantism, and organomegaly. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,281,687 (GRCm39) M3190L probably benign Het
Adgrv1 A T 13: 81,637,154 (GRCm39) L3429H probably damaging Het
Ahnak A G 19: 8,991,484 (GRCm39) D4256G probably damaging Het
Ahnak A G 19: 8,984,515 (GRCm39) N1933S probably benign Het
Amacr A G 15: 10,984,835 (GRCm39) D151G probably benign Het
Ano9 A T 7: 140,687,762 (GRCm39) H255Q possibly damaging Het
Asphd2 A T 5: 112,539,501 (GRCm39) Y111N possibly damaging Het
Cage1 T A 13: 38,209,334 (GRCm39) K214N probably benign Het
Cltc C T 11: 86,624,490 (GRCm39) R148H probably damaging Het
Cmbl A G 15: 31,582,176 (GRCm39) N58D probably damaging Het
Cpa6 T C 1: 10,479,487 (GRCm39) T249A possibly damaging Het
Cpsf1 T A 15: 76,481,202 (GRCm39) N1218I probably damaging Het
Csf2rb T C 15: 78,232,531 (GRCm39) S613P probably benign Het
Ctnnd1 A G 2: 84,439,411 (GRCm39) S761P probably damaging Het
Cxcr6 A C 9: 123,639,463 (GRCm39) I155L probably benign Het
Ecpas A G 4: 58,819,155 (GRCm39) V1265A probably damaging Het
Fam216a A G 5: 122,508,576 (GRCm39) probably null Het
Fgf10 T A 13: 118,918,147 (GRCm39) probably null Het
Fgf17 T C 14: 70,875,996 (GRCm39) T79A probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gm1527 G T 3: 28,980,828 (GRCm39) V643L probably benign Het
Hmcn2 A T 2: 31,276,689 (GRCm39) Q1556L possibly damaging Het
Hspa4l C T 3: 40,738,758 (GRCm39) T616I possibly damaging Het
Irag2 A G 6: 145,110,986 (GRCm39) S264G probably benign Het
Irgm1 T C 11: 48,757,154 (GRCm39) D219G probably damaging Het
Jcad A G 18: 4,673,243 (GRCm39) D335G probably damaging Het
Kcnh4 A G 11: 100,641,084 (GRCm39) F455S probably damaging Het
Khdrbs3 T C 15: 68,889,210 (GRCm39) Y120H probably damaging Het
Kndc1 A T 7: 139,493,939 (GRCm39) T507S probably null Het
Lepr G T 4: 101,625,290 (GRCm39) E482* probably null Het
Mcemp1 T A 8: 3,717,507 (GRCm39) M146K probably benign Het
Mllt10 A G 2: 18,211,948 (GRCm39) T411A probably damaging Het
Myh8 A T 11: 67,192,837 (GRCm39) I1543L probably benign Het
Myo1f T C 17: 33,797,258 (GRCm39) S147P probably damaging Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Or5j1 C T 2: 86,878,837 (GRCm39) V248I probably damaging Het
Plaat1 G A 16: 29,039,331 (GRCm39) probably null Het
Plch2 G A 4: 155,093,469 (GRCm39) R57C probably damaging Het
Rbm20 G A 19: 53,839,626 (GRCm39) G872R probably damaging Het
Retsat A T 6: 72,583,414 (GRCm39) I373F probably damaging Het
Rnf145 T C 11: 44,446,056 (GRCm39) F297L probably benign Het
Ros1 A T 10: 52,031,204 (GRCm39) M479K possibly damaging Het
Rubcnl T A 14: 75,273,521 (GRCm39) N244K probably benign Het
Samhd1 A G 2: 156,952,535 (GRCm39) F406L probably damaging Het
Sdsl A T 5: 120,597,533 (GRCm39) V258D probably damaging Het
Sec24c C G 14: 20,733,467 (GRCm39) P166A probably benign Het
Sele C A 1: 163,881,184 (GRCm39) Y461* probably null Het
Slc22a1 G T 17: 12,881,487 (GRCm39) S334* probably null Het
Spem1 T G 11: 69,712,691 (GRCm39) probably null Het
Stat3 T C 11: 100,794,469 (GRCm39) E280G probably damaging Het
Stxbp4 T C 11: 90,483,186 (GRCm39) H280R probably benign Het
Tas2r129 G A 6: 132,928,906 (GRCm39) C281Y probably benign Het
Tas2r129 T G 6: 132,928,907 (GRCm39) C281W probably benign Het
Tcp11 T A 17: 28,298,897 (GRCm39) probably null Het
Tnrc6b G A 15: 80,764,876 (GRCm39) V793M probably benign Het
Vmn2r59 A C 7: 41,696,528 (GRCm39) Y71* probably null Het
Wdr35 T C 12: 9,062,743 (GRCm39) probably null Het
Zan A G 5: 137,411,620 (GRCm39) probably null Het
Zap70 G T 1: 36,818,365 (GRCm39) V351L probably damaging Het
Zfp609 G T 9: 65,609,916 (GRCm39) Q1016K unknown Het
Zfp641 C A 15: 98,187,060 (GRCm39) V188L probably benign Het
Zpld2 A T 4: 133,930,089 (GRCm39) L72Q probably damaging Het
Other mutations in Cdkn2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01105:Cdkn2c APN 4 109,518,823 (GRCm39) missense probably damaging 1.00
IGL02638:Cdkn2c APN 4 109,522,209 (GRCm39) splice site probably benign
R2131:Cdkn2c UTSW 4 109,522,260 (GRCm39) missense probably null 0.86
R7096:Cdkn2c UTSW 4 109,518,555 (GRCm39) missense probably benign
R7152:Cdkn2c UTSW 4 109,522,235 (GRCm39) missense probably damaging 1.00
R9290:Cdkn2c UTSW 4 109,518,512 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCCAACCAACTAACGGACAGTGTG -3'
(R):5'- AAGAGCTGGAGGGATTCTCCCATC -3'

Sequencing Primer
(F):5'- GTGAGAGAGACCTCTACACATTC -3'
(R):5'- GGAGGGATTCTCCCATCTTTAAC -3'
Posted On 2013-05-23