Incidental Mutation 'IGL01105:Cdkn2c'
ID 50902
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdkn2c
Ensembl Gene ENSMUSG00000028551
Gene Name cyclin dependent kinase inhibitor 2C
Synonyms p18INK4c, p18, INK4c
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01105
Quality Score
Status
Chromosome 4
Chromosomal Location 109518073-109523953 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 109518823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 44 (V44I)
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: V44I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070313
Gene: ENSMUSG00000028551
AA Change: V44I

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: V44I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095534
Gene: ENSMUSG00000028551
AA Change: V44I

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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T A 11: 105,862,885 (GRCm39) V302E probably damaging Het
Ahcy T C 2: 154,909,281 (GRCm39) D86G probably benign Het
Antxr2 G T 5: 98,152,802 (GRCm39) probably benign Het
Cadps2 A G 6: 23,321,699 (GRCm39) probably benign Het
Cdhr4 C T 9: 107,873,060 (GRCm39) probably benign Het
Chodl T C 16: 78,738,151 (GRCm39) Y40H probably damaging Het
Heatr3 A G 8: 88,888,521 (GRCm39) D391G probably benign Het
Hephl1 T C 9: 15,000,320 (GRCm39) T311A possibly damaging Het
Itpr1 G A 6: 108,358,294 (GRCm39) S620N probably benign Het
Kank1 T A 19: 25,401,680 (GRCm39) S1096T possibly damaging Het
Kank3 G A 17: 34,036,375 (GRCm39) G81E probably damaging Het
Krtap9-5 A G 11: 99,839,459 (GRCm39) I53M unknown Het
Limk2 G A 11: 3,305,475 (GRCm39) probably benign Het
Lrig2 G A 3: 104,371,484 (GRCm39) R382* probably null Het
Mamdc2 T A 19: 23,308,366 (GRCm39) D512V probably benign Het
Marchf1 A T 8: 66,871,529 (GRCm39) T353S possibly damaging Het
Mrc2 A G 11: 105,219,567 (GRCm39) D312G probably damaging Het
Myh9 C T 15: 77,665,678 (GRCm39) M627I probably benign Het
Nipa2 A T 7: 55,583,193 (GRCm39) I184N probably damaging Het
Npy1r A G 8: 67,157,428 (GRCm39) K246R probably benign Het
Pank4 C T 4: 155,056,922 (GRCm39) probably benign Het
Pcdh12 T A 18: 38,408,400 (GRCm39) E1035D probably damaging Het
Pias2 T A 18: 77,220,852 (GRCm39) D362E probably damaging Het
Pkd1l3 G T 8: 110,388,873 (GRCm39) V1872L possibly damaging Het
Postn T G 3: 54,270,131 (GRCm39) I70S probably damaging Het
Ppef2 A G 5: 92,397,055 (GRCm39) S107P possibly damaging Het
Prl3c1 T C 13: 27,386,408 (GRCm39) V131A probably benign Het
Qsox2 A G 2: 26,099,697 (GRCm39) V609A probably benign Het
Rhebl1 C A 15: 98,776,379 (GRCm39) E139D probably benign Het
Ryr3 A G 2: 112,582,150 (GRCm39) S2848P probably damaging Het
Scd2 T A 19: 44,286,497 (GRCm39) I109N probably benign Het
Sim1 A G 10: 50,857,630 (GRCm39) H460R probably damaging Het
Slc35f3 C A 8: 127,025,553 (GRCm39) P10Q probably damaging Het
Slf1 T C 13: 77,249,031 (GRCm39) probably benign Het
Stk10 G T 11: 32,527,740 (GRCm39) V163L probably benign Het
Tssk6 A G 8: 70,355,462 (GRCm39) T169A probably benign Het
Usp28 T A 9: 48,921,550 (GRCm39) V256E probably damaging Het
Vmn2r77 A T 7: 86,460,872 (GRCm39) I733F probably damaging Het
Other mutations in Cdkn2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02638:Cdkn2c APN 4 109,522,209 (GRCm39) splice site probably benign
R0487:Cdkn2c UTSW 4 109,518,606 (GRCm39) missense probably damaging 1.00
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
Posted On 2013-06-21