Incidental Mutation 'R2034:Skp2'
ID 224379
Institutional Source Beutler Lab
Gene Symbol Skp2
Ensembl Gene ENSMUSG00000054115
Gene Name S-phase kinase-associated protein 2
Synonyms FBXL1
MMRRC Submission 040041-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2034 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 9112073-9155512 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 9113786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 376 (G376C)
Ref Sequence ENSEMBL: ENSMUSP00000139997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067760] [ENSMUST00000096482] [ENSMUST00000100789] [ENSMUST00000100790] [ENSMUST00000110585] [ENSMUST00000190131]
AlphaFold Q9Z0Z3
Predicted Effect probably benign
Transcript: ENSMUST00000067760
SMART Domains Protein: ENSMUSP00000068318
Gene: ENSMUSG00000022253

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Pfam:NAD_kinase 58 334 4.7e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000096482
AA Change: G411C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094225
Gene: ENSMUSG00000054115
AA Change: G411C

DomainStartEndE-ValueType
FBOX 100 140 3.7e-8 SMART
LRR 205 229 1.27e2 SMART
LRR 230 254 1.28e1 SMART
LRR 255 280 2.91e1 SMART
LRR 334 359 2.83e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100789
SMART Domains Protein: ENSMUSP00000098353
Gene: ENSMUSG00000022253

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Pfam:NAD_kinase 58 171 8.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100790
SMART Domains Protein: ENSMUSP00000098354
Gene: ENSMUSG00000022253

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Pfam:NAD_kinase 58 312 3.9e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110585
SMART Domains Protein: ENSMUSP00000106215
Gene: ENSMUSG00000054115

DomainStartEndE-ValueType
FBOX 100 140 3.7e-8 SMART
Blast:LRR 205 229 5e-7 BLAST
Blast:LRR 229 253 3e-7 BLAST
Blast:LRR 255 284 3e-10 BLAST
Blast:LRR 309 334 3e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189437
Predicted Effect probably damaging
Transcript: ENSMUST00000190131
AA Change: G376C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139997
Gene: ENSMUSG00000054115
AA Change: G376C

DomainStartEndE-ValueType
FBOX 65 105 2.3e-10 SMART
LRR 170 194 5.3e-1 SMART
LRR 195 219 5.3e-2 SMART
LRR 220 245 1.2e-1 SMART
LRR 299 324 1.2e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190591
Meta Mutation Damage Score 0.5144 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class; in addition to an F-box, this protein contains 10 tandem leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body weight, enlarged cell and nuclear sizes, polyploidy, reduced cell growth rate, overduplication of centrosomes, increased apoptosis rate, delayed wound healing, and aberrant immunoglobulin V(D)J recombination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik T C 11: 69,791,385 (GRCm39) I65V probably benign Het
Abca13 A G 11: 9,242,628 (GRCm39) N1497S possibly damaging Het
Afmid C A 11: 117,726,061 (GRCm39) N184K probably benign Het
Ampd2 A T 3: 107,984,679 (GRCm39) I459N possibly damaging Het
Anapc1 T C 2: 128,490,378 (GRCm39) D1018G possibly damaging Het
Ano9 T A 7: 140,688,048 (GRCm39) I223F probably damaging Het
B3gnt6 A G 7: 97,843,225 (GRCm39) L245P possibly damaging Het
Bag6 G A 17: 35,363,668 (GRCm39) R784Q probably damaging Het
Brca1 C G 11: 101,380,675 (GRCm39) S1786T probably benign Het
Btbd3 T G 2: 138,120,903 (GRCm39) S26A probably benign Het
Cacna1d C A 14: 29,811,820 (GRCm39) V1277L probably damaging Het
Casp12 C T 9: 5,346,491 (GRCm39) T6I probably damaging Het
Col7a1 T C 9: 108,792,075 (GRCm39) V1262A unknown Het
Crh C A 3: 19,748,262 (GRCm39) G127C probably damaging Het
D5Ertd579e A T 5: 36,770,882 (GRCm39) L64* probably null Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Ddc T A 11: 11,830,456 (GRCm39) I63L probably benign Het
Eif3a C T 19: 60,750,568 (GRCm39) probably benign Het
Fsip2 T A 2: 82,819,838 (GRCm39) N5190K probably benign Het
Gm5420 A G 10: 21,567,512 (GRCm39) noncoding transcript Het
Grb14 A G 2: 64,753,873 (GRCm39) probably benign Het
Gsap A T 5: 21,475,593 (GRCm39) I545F probably damaging Het
Hectd1 A T 12: 51,803,899 (GRCm39) probably null Het
Helz2 G A 2: 180,874,371 (GRCm39) P2041L probably damaging Het
Herc1 G A 9: 66,349,254 (GRCm39) A2038T probably benign Het
Il10 C A 1: 130,951,922 (GRCm39) Q152K probably benign Het
Klrg1 A G 6: 122,256,596 (GRCm39) probably null Het
Lrig2 T C 3: 104,401,408 (GRCm39) T160A probably benign Het
Mmd2 A T 5: 142,560,939 (GRCm39) probably null Het
Mmp2 C T 8: 93,563,540 (GRCm39) S338F probably damaging Het
Nalcn T G 14: 123,521,015 (GRCm39) D1630A probably benign Het
Ncoa2 T C 1: 13,235,207 (GRCm39) S909G probably benign Het
Neb A T 2: 52,170,623 (GRCm39) M1683K possibly damaging Het
Nfe2l3 A G 6: 51,435,350 (GRCm39) I637V possibly damaging Het
Npw G A 17: 24,877,242 (GRCm39) S53F probably damaging Het
Nrbf2 A T 10: 67,111,343 (GRCm39) probably benign Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Nup188 T A 2: 30,200,097 (GRCm39) probably benign Het
Or4k15c T C 14: 50,321,440 (GRCm39) M233V probably benign Het
Or5b21 T A 19: 12,839,151 (GRCm39) M4K possibly damaging Het
Parp4 A T 14: 56,871,720 (GRCm39) I1133F probably damaging Het
Pcdhb11 T C 18: 37,555,546 (GRCm39) V292A probably benign Het
Pcnx2 A G 8: 126,545,406 (GRCm39) probably null Het
Phf2 A G 13: 48,971,206 (GRCm39) S489P unknown Het
Pik3r5 T A 11: 68,384,403 (GRCm39) N598K probably damaging Het
Pikfyve A T 1: 65,261,516 (GRCm39) E432D probably damaging Het
Pink1 T C 4: 138,045,343 (GRCm39) I274V possibly damaging Het
Pkhd1 G A 1: 20,270,893 (GRCm39) T3220I probably damaging Het
Plxna2 A G 1: 194,462,902 (GRCm39) I890V probably benign Het
Pomgnt1 T C 4: 116,015,124 (GRCm39) V492A possibly damaging Het
Prp2 G T 6: 132,572,947 (GRCm39) probably null Het
Rabl6 T C 2: 25,475,444 (GRCm39) E543G possibly damaging Het
Rgp1 T A 4: 43,581,605 (GRCm39) probably null Het
Rps6kb2 T C 19: 4,211,106 (GRCm39) T140A probably damaging Het
S100a11 T C 3: 93,433,429 (GRCm39) I91T probably benign Het
Serpine2 A G 1: 79,774,569 (GRCm39) L230P probably damaging Het
Sh3tc2 A G 18: 62,120,737 (GRCm39) D370G probably damaging Het
Sim2 A C 16: 93,886,801 (GRCm39) I43L probably damaging Het
Slc14a2 A G 18: 78,226,798 (GRCm39) L419P probably damaging Het
Srgap1 C T 10: 121,628,651 (GRCm39) E817K probably damaging Het
Stag3 A G 5: 138,296,263 (GRCm39) E442G possibly damaging Het
Sulf1 A G 1: 12,890,645 (GRCm39) N361S probably damaging Het
Tmco6 A G 18: 36,870,909 (GRCm39) probably null Het
Tmem104 T A 11: 115,134,373 (GRCm39) I303N probably benign Het
Ttll6 G T 11: 96,026,352 (GRCm39) D86Y probably damaging Het
Tut4 C T 4: 108,369,392 (GRCm39) R651W probably damaging Het
Vmn1r120 T G 7: 20,786,883 (GRCm39) E276A possibly damaging Het
Vmn1r64 A G 7: 5,886,988 (GRCm39) M185T probably benign Het
Vmn2r85 A T 10: 130,262,242 (GRCm39) probably benign Het
Vwa3a A T 7: 120,381,868 (GRCm39) K568* probably null Het
Other mutations in Skp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00841:Skp2 APN 15 9,139,574 (GRCm39) missense probably benign 0.00
IGL02135:Skp2 APN 15 9,125,234 (GRCm39) missense probably benign
R0050:Skp2 UTSW 15 9,125,178 (GRCm39) missense probably benign 0.03
R0129:Skp2 UTSW 15 9,125,280 (GRCm39) missense probably damaging 1.00
R0238:Skp2 UTSW 15 9,127,971 (GRCm39) critical splice donor site probably null
R0238:Skp2 UTSW 15 9,127,971 (GRCm39) critical splice donor site probably null
R1404:Skp2 UTSW 15 9,117,012 (GRCm39) nonsense probably null
R1404:Skp2 UTSW 15 9,117,012 (GRCm39) nonsense probably null
R1503:Skp2 UTSW 15 9,127,998 (GRCm39) missense probably damaging 1.00
R1660:Skp2 UTSW 15 9,125,201 (GRCm39) missense probably benign 0.03
R1746:Skp2 UTSW 15 9,139,530 (GRCm39) missense possibly damaging 0.58
R2031:Skp2 UTSW 15 9,113,786 (GRCm39) missense probably damaging 1.00
R2087:Skp2 UTSW 15 9,113,786 (GRCm39) missense probably damaging 1.00
R2088:Skp2 UTSW 15 9,113,786 (GRCm39) missense probably damaging 1.00
R2090:Skp2 UTSW 15 9,113,786 (GRCm39) missense probably damaging 1.00
R2091:Skp2 UTSW 15 9,113,786 (GRCm39) missense probably damaging 1.00
R4272:Skp2 UTSW 15 9,116,947 (GRCm39) critical splice donor site probably null
R4428:Skp2 UTSW 15 9,117,034 (GRCm39) missense probably benign 0.21
R4747:Skp2 UTSW 15 9,113,927 (GRCm39) missense possibly damaging 0.93
R5734:Skp2 UTSW 15 9,139,566 (GRCm39) missense possibly damaging 0.85
R6963:Skp2 UTSW 15 9,139,515 (GRCm39) splice site probably null
R7452:Skp2 UTSW 15 9,113,920 (GRCm39) missense probably damaging 1.00
R7481:Skp2 UTSW 15 9,113,905 (GRCm39) missense probably damaging 0.97
R7855:Skp2 UTSW 15 9,122,328 (GRCm39) missense probably benign 0.00
R7989:Skp2 UTSW 15 9,127,979 (GRCm39) missense probably benign 0.00
R8046:Skp2 UTSW 15 9,139,687 (GRCm39) missense probably damaging 1.00
R8497:Skp2 UTSW 15 9,127,971 (GRCm39) critical splice donor site probably null
R9062:Skp2 UTSW 15 9,113,821 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTAACACTTCGTGGCTGTCC -3'
(R):5'- TGCCATACCTCCTGGAATTTGC -3'

Sequencing Primer
(F):5'- TCGCAAATGGTTCCCTAACATAC -3'
(R):5'- CTCTTCCTTTGCAGTGAACTTGGAG -3'
Posted On 2014-08-25