Incidental Mutation 'R8304:Ccnl2'
ID 639377
Institutional Source Beutler Lab
Gene Symbol Ccnl2
Ensembl Gene ENSMUSG00000029068
Gene Name cyclin L2
Synonyms 1700010A01Rik, Pcee, 1810019L15Rik, ania-6b, 2010319M22Rik
MMRRC Submission 067791-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.332) question?
Stock # R8304 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 155896946-155909000 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155897679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 113 (F113L)
Ref Sequence ENSEMBL: ENSMUSP00000030944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030942] [ENSMUST00000030944] [ENSMUST00000137487] [ENSMUST00000185148]
AlphaFold Q9JJA7
Predicted Effect probably benign
Transcript: ENSMUST00000030942
SMART Domains Protein: ENSMUSP00000030942
Gene: ENSMUSG00000029066

DomainStartEndE-ValueType
Pfam:Ribosomal_L20 11 116 2.3e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000030944
AA Change: F113L

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000030944
Gene: ENSMUSG00000029068
AA Change: F113L

DomainStartEndE-ValueType
low complexity region 1 30 N/A INTRINSIC
CYCLIN 81 183 8.74e-11 SMART
Cyclin_C 192 315 9.58e-5 SMART
CYCLIN 196 280 1.24e-15 SMART
low complexity region 334 351 N/A INTRINSIC
low complexity region 376 428 N/A INTRINSIC
Blast:CYCLIN 429 478 5e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000126346
SMART Domains Protein: ENSMUSP00000116000
Gene: ENSMUSG00000029068

DomainStartEndE-ValueType
Blast:CYCLIN 2 52 2e-28 BLAST
SCOP:d1vin_1 29 59 9e-4 SMART
SCOP:d1jkw_2 62 87 8e-4 SMART
Blast:CYCLIN 65 87 5e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000137487
SMART Domains Protein: ENSMUSP00000139122
Gene: ENSMUSG00000029066

DomainStartEndE-ValueType
Pfam:Ribosomal_L20 10 116 1.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185148
SMART Domains Protein: ENSMUSP00000139169
Gene: ENSMUSG00000029066

DomainStartEndE-ValueType
Pfam:Ribosomal_L20 10 79 1.5e-21 PFAM
Meta Mutation Damage Score 0.1010 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cyclin family. Through its interaction with several proteins, such as RNA polymerase II, splicing factors, and cyclin-dependent kinases, this protein functions as a regulator of the pre-mRNA splicing process, as well as in inducing apoptosis by modulating the expression of apoptotic and antiapoptotic proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 109,997,954 (GRCm39) probably null Het
Akap11 T C 14: 78,750,672 (GRCm39) T572A Het
Amigo2 A T 15: 97,144,038 (GRCm39) L128Q probably damaging Het
Ankrd12 A G 17: 66,291,542 (GRCm39) I1297T possibly damaging Het
Arhgap32 T A 9: 32,167,233 (GRCm39) C623* probably null Het
Armc2 T C 10: 41,823,935 (GRCm39) Y511C probably damaging Het
Asb15 C T 6: 24,559,296 (GRCm39) P147L possibly damaging Het
Caprin1 G T 2: 103,599,862 (GRCm39) N604K probably damaging Het
Cltc C T 11: 86,616,087 (GRCm39) R393H probably benign Het
Cul4a G A 8: 13,177,727 (GRCm39) C289Y possibly damaging Het
Cyp4a29 T A 4: 115,111,653 (GRCm39) F477I probably damaging Het
Dapk2 C T 9: 66,139,027 (GRCm39) A116V possibly damaging Het
Ddx60 T C 8: 62,451,803 (GRCm39) I1231T possibly damaging Het
Eif5b A G 1: 38,084,774 (GRCm39) I874V probably benign Het
Eral1 A T 11: 77,966,828 (GRCm39) S196T probably damaging Het
Erc2 T G 14: 27,375,122 (GRCm39) D113E probably damaging Het
Frmpd2 A G 14: 33,274,066 (GRCm39) I1103V possibly damaging Het
Galm A G 17: 80,490,766 (GRCm39) T308A probably damaging Het
Helz2 A T 2: 180,871,950 (GRCm39) N2650K probably benign Het
Herc2 A G 7: 55,809,186 (GRCm39) D2562G probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Hspbap1 T A 16: 35,607,695 (GRCm39) L67* probably null Het
Irx3 T A 8: 92,526,834 (GRCm39) D290V probably damaging Het
Kcns1 A T 2: 164,010,022 (GRCm39) Y246N probably damaging Het
Kidins220 A G 12: 25,107,127 (GRCm39) T1557A probably benign Het
Lrriq1 T C 10: 103,069,929 (GRCm39) N29S possibly damaging Het
Mmp24 T C 2: 155,641,759 (GRCm39) F196L possibly damaging Het
Mroh2b T C 15: 4,955,119 (GRCm39) V704A probably damaging Het
Mst1 A G 9: 107,958,803 (GRCm39) M112V probably benign Het
Myh8 C A 11: 67,195,162 (GRCm39) H1659N possibly damaging Het
Nlgn1 C T 3: 26,187,534 (GRCm39) C117Y probably damaging Het
Opa1 C T 16: 29,416,489 (GRCm39) T237M possibly damaging Het
Or2r2 C T 6: 42,463,672 (GRCm39) V152I probably benign Het
Or51f5 A G 7: 102,423,917 (GRCm39) Y62C possibly damaging Het
Or5v1 A T 17: 37,810,261 (GRCm39) T240S probably damaging Het
Or8b57 A T 9: 40,003,650 (GRCm39) I204N probably damaging Het
P3h1 C T 4: 119,104,402 (GRCm39) T641M probably damaging Het
Pak5 T C 2: 135,940,203 (GRCm39) H537R probably benign Het
Ppp1r12b A T 1: 134,824,101 (GRCm39) L174Q possibly damaging Het
Prkg1 A G 19: 30,701,584 (GRCm39) V326A possibly damaging Het
Psmb3 T A 11: 97,601,995 (GRCm39) C122S probably benign Het
Sh3bgrl3 C A 4: 133,855,312 (GRCm39) A45S probably benign Het
Slc25a47 T C 12: 108,821,868 (GRCm39) V219A possibly damaging Het
Slfn9 A C 11: 82,873,605 (GRCm39) S433A probably benign Het
Spata13 A T 14: 60,993,957 (GRCm39) R1136S possibly damaging Het
Stab1 C A 14: 30,870,911 (GRCm39) A1313S probably benign Het
Stim1 G A 7: 102,084,688 (GRCm39) A547T possibly damaging Het
Taf5l A T 8: 124,730,251 (GRCm39) I146N probably benign Het
Tbc1d12 A T 19: 38,825,824 (GRCm39) E225V possibly damaging Het
Tesc T C 5: 118,194,495 (GRCm39) Y135H probably benign Het
Tfg T C 16: 56,521,581 (GRCm39) E145G possibly damaging Het
Tg T A 15: 66,565,109 (GRCm39) C1150* probably null Het
Tmtc1 T C 6: 148,172,883 (GRCm39) N616S probably damaging Het
Trpm7 A T 2: 126,639,797 (GRCm39) W1600R probably damaging Het
Ttc17 A T 2: 94,199,526 (GRCm39) probably benign Het
Zfand1 A T 3: 10,413,615 (GRCm39) L24* probably null Het
Zfp282 AGCGGCGGCGGCGGCGGC AGCGGCGGCGGCGGC 6: 47,881,722 (GRCm39) probably benign Het
Zfp770 A C 2: 114,027,891 (GRCm39) F59L probably damaging Het
Other mutations in Ccnl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Ccnl2 APN 4 155,905,337 (GRCm39) missense probably damaging 1.00
IGL01936:Ccnl2 APN 4 155,904,856 (GRCm39) missense probably damaging 1.00
IGL02029:Ccnl2 APN 4 155,906,319 (GRCm39) missense probably benign 0.05
IGL03244:Ccnl2 APN 4 155,905,479 (GRCm39) missense probably benign 0.20
R2069:Ccnl2 UTSW 4 155,896,938 (GRCm39) splice site probably null
R4996:Ccnl2 UTSW 4 155,897,981 (GRCm39) missense possibly damaging 0.46
R7206:Ccnl2 UTSW 4 155,905,431 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- GAAATGGAAACTGTCGTGGC -3'
(R):5'- GGTGAACACAAGCCATGGAC -3'

Sequencing Primer
(F):5'- AAACTGTCGTGGCTATTTGTCC -3'
(R):5'- TGCTGAAATGTACATTGTGACACGG -3'
Posted On 2020-07-28