Incidental Mutation 'IGL02638:Cdkn2c'
ID 301632
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 # IGL02638
Quality Score
Status
Chromosome 4
Chromosomal Location 109518073-109523953 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 109522209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000095534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063531] [ENSMUST00000097921]
AlphaFold Q60772
Predicted Effect probably benign
Transcript: ENSMUST00000063531
SMART Domains Protein: ENSMUSP00000070313
Gene: ENSMUSG00000028551

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 benign
Transcript: ENSMUST00000097921
SMART Domains Protein: ENSMUSP00000095534
Gene: ENSMUSG00000028551

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
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh3 T A 2: 93,838,458 (GRCm39) T38S probably benign Het
Btbd8 T C 5: 107,656,422 (GRCm39) V895A possibly damaging Het
Clca4b A C 3: 144,631,939 (GRCm39) C189G probably damaging Het
Clec4f T A 6: 83,629,682 (GRCm39) N292I possibly damaging Het
Dkk3 A C 7: 111,748,234 (GRCm39) S123R probably benign Het
Dock1 C T 7: 134,748,209 (GRCm39) A1557V probably benign Het
E130308A19Rik C T 4: 59,719,676 (GRCm39) Q403* probably null Het
F5 G A 1: 164,012,177 (GRCm39) probably null Het
Fam98c T A 7: 28,852,187 (GRCm39) D326V probably damaging Het
Firrm G A 1: 163,786,868 (GRCm39) Q734* probably null Het
Frem2 A C 3: 53,458,767 (GRCm39) V2034G possibly damaging Het
Galnt2 G A 8: 124,958,318 (GRCm39) G18D probably damaging Het
Grhl3 T C 4: 135,284,176 (GRCm39) E222G probably benign Het
Hif3a A C 7: 16,778,293 (GRCm39) probably benign Het
Ibtk C T 9: 85,601,946 (GRCm39) G755D probably damaging Het
Laptm4b A G 15: 34,277,630 (GRCm39) N187S probably benign Het
Lrba A G 3: 86,232,380 (GRCm39) T776A probably damaging Het
Matcap2 A T 9: 22,341,775 (GRCm39) K149* probably null Het
Mfhas1 T A 8: 36,058,104 (GRCm39) W860R possibly damaging Het
Mon2 A C 10: 122,859,844 (GRCm39) W811G probably damaging Het
Nup42 A G 5: 24,380,505 (GRCm39) T167A probably benign Het
Or10j2 A G 1: 173,097,898 (GRCm39) D52G probably benign Het
Or2z2 C A 11: 58,345,873 (GRCm39) A301S probably damaging Het
Or4k45 T C 2: 111,395,249 (GRCm39) D180G probably damaging Het
Or5w10 T C 2: 87,375,093 (GRCm39) Y265C probably damaging Het
Or8j3c T C 2: 86,254,021 (GRCm39) probably null Het
Pgap2 T C 7: 101,886,629 (GRCm39) L217P probably damaging Het
Pik3c2b T G 1: 133,005,056 (GRCm39) probably benign Het
Ppfia3 T A 7: 45,006,092 (GRCm39) D149V probably damaging Het
Prkcb C T 7: 122,200,063 (GRCm39) probably benign Het
Prl A G 13: 27,245,562 (GRCm39) D97G probably benign Het
Psma5-ps T C 10: 85,149,698 (GRCm39) noncoding transcript Het
Rnf112 T C 11: 61,340,231 (GRCm39) probably benign Het
Slc17a8 C A 10: 89,412,465 (GRCm39) G323* probably null Het
Snx19 T C 9: 30,343,660 (GRCm39) F607L possibly damaging Het
Suco A G 1: 161,655,256 (GRCm39) S1079P probably damaging Het
Taf5 T C 19: 47,056,649 (GRCm39) L149P probably benign Het
Taf6l T C 19: 8,752,630 (GRCm39) M379V probably benign Het
Tcf25 T C 8: 124,126,031 (GRCm39) F558L probably damaging Het
Tlcd1 T C 11: 78,070,444 (GRCm39) V102A probably benign Het
Tmc5 G T 7: 118,226,456 (GRCm39) A274S probably benign Het
Toporsl C T 4: 52,611,624 (GRCm39) H506Y probably benign Het
Ubtd1 T C 19: 42,022,109 (GRCm39) L127P possibly damaging Het
Usp24 A C 4: 106,295,967 (GRCm39) probably benign Het
Usp24 C A 4: 106,295,969 (GRCm39) probably benign Het
Usp43 T G 11: 67,746,581 (GRCm39) D1042A probably benign Het
Whrn T C 4: 63,337,709 (GRCm39) T48A possibly damaging Het
Wnt2b A G 3: 104,862,032 (GRCm39) I102T probably benign Het
Zfp763 T C 17: 33,238,908 (GRCm39) D79G probably benign Het
Zmat4 A G 8: 24,287,389 (GRCm39) Y45C probably damaging Het
Other mutations in Cdkn2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01105:Cdkn2c APN 4 109,518,823 (GRCm39) missense probably damaging 1.00
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 2015-04-16