Incidental Mutation 'R7152:Cdkn2c'
ID 554185
Institutional Source Beutler Lab
Gene Symbol Cdkn2c
Ensembl Gene ENSMUSG00000028551
Gene Name cyclin dependent kinase inhibitor 2C
Synonyms p18INK4c, p18, INK4c
MMRRC Submission 045254-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7152 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 109518073-109523953 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 109522235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 37 (F37I)
Ref Sequence ENSEMBL: ENSMUSP00000070313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063531] [ENSMUST00000097921]
AlphaFold Q60772
Predicted Effect probably damaging
Transcript: ENSMUST00000063531
AA Change: F37I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000070313
Gene: ENSMUSG00000028551
AA Change: F37I

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: F37I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095534
Gene: ENSMUSG00000028551
AA Change: F37I

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
Meta Mutation Damage Score 0.2187 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btnl10 A G 11: 58,813,223 (GRCm39) N284S probably benign Het
Casz1 C G 4: 148,985,748 (GRCm39) probably benign Het
Cdyl2 T C 8: 117,351,066 (GRCm39) K22E probably damaging Het
Cers1 T C 8: 70,770,901 (GRCm39) W104R probably damaging Het
Cgrrf1 T A 14: 47,090,934 (GRCm39) Y223* probably null Het
Cited2 C A 10: 17,600,134 (GRCm39) N147K probably benign Het
Clip2 A T 5: 134,525,095 (GRCm39) L904Q probably damaging Het
Cntln T C 4: 84,802,937 (GRCm39) V79A possibly damaging Het
Cntnap1 C T 11: 101,068,152 (GRCm39) R55W probably damaging Het
Cspg4b T C 13: 113,455,384 (GRCm39) F477L Het
Ctnna2 T A 6: 76,957,807 (GRCm39) T481S possibly damaging Het
Ddx17 T C 15: 79,414,464 (GRCm39) T570A possibly damaging Het
Epha7 A G 4: 28,935,826 (GRCm39) K483E possibly damaging Het
Eps8l2 A T 7: 140,935,678 (GRCm39) I150F possibly damaging Het
Esyt1 A G 10: 128,351,629 (GRCm39) S827P possibly damaging Het
Fbxl13 T A 5: 21,787,065 (GRCm39) I291F possibly damaging Het
Foxd3 A C 4: 99,545,562 (GRCm39) H234P probably benign Het
Ggta1 T A 2: 35,292,711 (GRCm39) M199L probably benign Het
H3c13 A G 3: 96,176,254 (GRCm39) D82G probably benign Het
Ighv5-15 T C 12: 113,790,317 (GRCm39) E101G probably benign Het
Igkv8-18 T C 6: 70,333,205 (GRCm39) L49P probably damaging Het
Itpr1 T C 6: 108,371,368 (GRCm39) probably null Het
Klhl36 C T 8: 120,596,953 (GRCm39) T218M probably benign Het
Ltn1 A G 16: 87,224,529 (GRCm39) F65S probably damaging Het
Marchf3 A G 18: 56,909,053 (GRCm39) V244A probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Ndst3 T A 3: 123,346,305 (GRCm39) I642F possibly damaging Het
Neb T C 2: 52,153,557 (GRCm39) D2456G probably damaging Het
Nphp1 A G 2: 127,595,899 (GRCm39) M522T probably benign Het
Or51k1 T A 7: 103,661,226 (GRCm39) M228L probably benign Het
Or8k33 C T 2: 86,383,673 (GRCm39) S265N probably benign Het
Pam T A 1: 97,813,465 (GRCm39) M322L probably damaging Het
Pcdhgb1 C A 18: 37,814,854 (GRCm39) H448Q probably benign Het
Pcnt T C 10: 76,247,194 (GRCm39) probably null Het
Pgm3 A T 9: 86,449,593 (GRCm39) D142E probably benign Het
Pomgnt2 C T 9: 121,812,589 (GRCm39) G64D probably damaging Het
Sds A T 5: 120,619,716 (GRCm39) probably null Het
Sirpb1b G T 3: 15,607,230 (GRCm39) Q351K probably benign Het
Slc2a12 T A 10: 22,541,453 (GRCm39) M436K probably benign Het
Slc9a5 G A 8: 106,095,025 (GRCm39) G872D probably benign Het
Stxbp2 T G 8: 3,682,583 (GRCm39) S57R probably benign Het
Sult2a6 T A 7: 13,956,445 (GRCm39) D272V probably benign Het
Supt5 A G 7: 28,023,325 (GRCm39) M318T probably benign Het
Tdpoz3 T C 3: 93,733,772 (GRCm39) V149A probably damaging Het
Tead2 T A 7: 44,869,871 (GRCm39) S124T possibly damaging Het
Tssc4 T A 7: 142,624,139 (GRCm39) V149D probably damaging Het
Ttn C T 2: 76,683,505 (GRCm39) A906T Het
Uspl1 A G 5: 149,124,588 (GRCm39) T2A possibly damaging Het
Vmn1r124 G A 7: 20,994,184 (GRCm39) P120L probably benign Het
Vmn1r37 T C 6: 66,708,883 (GRCm39) Y170H probably benign Het
Vnn3 T A 10: 23,727,513 (GRCm39) V11E possibly damaging Het
Zbtb7b C T 3: 89,288,209 (GRCm39) R203H probably benign Het
Zfhx3 T C 8: 109,674,839 (GRCm39) V1963A possibly damaging Het
Zfp324 C A 7: 12,700,198 (GRCm39) A19E probably benign Het
Zfyve26 T C 12: 79,325,888 (GRCm39) S784G probably benign 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
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
R9290:Cdkn2c UTSW 4 109,518,512 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GAGTTGACCAGTTTCTCCAAAG -3'
(R):5'- GCCATCATGCAGCCTGATTAG -3'

Sequencing Primer
(F):5'- CCAAAGTACGTCATTTTGGGGAG -3'
(R):5'- TGCAGCCTGATTAGGAGCAAAG -3'
Posted On 2019-05-15