Incidental Mutation 'IGL00786:Ccnl2'
ID13345
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccnl2
Ensembl Gene ENSMUSG00000029068
Gene Namecyclin L2
SynonymsPcee, ania-6b, 2010319M22Rik, 1810019L15Rik, 1700010A01Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00786
Quality Score
Status
Chromosome4
Chromosomal Location155812489-155824543 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 155820880 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 284 (R284W)
Ref Sequence ENSEMBL: ENSMUSP00000030944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030944]
Predicted Effect probably damaging
Transcript: ENSMUST00000030944
AA Change: R284W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030944
Gene: ENSMUSG00000029068
AA Change: R284W

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 noncoding transcript
Transcript: ENSMUST00000129850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139066
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T C 2: 35,375,839 N242S probably benign Het
Akap9 C A 5: 4,070,522 A3646E probably damaging Het
Akt1 C A 12: 112,657,671 G233V probably damaging Het
B3gat3 A G 19: 8,926,785 E320G probably benign Het
Bpifa5 G A 2: 154,167,252 C238Y probably damaging Het
Camkmt T C 17: 85,096,491 V47A probably damaging Het
Chl1 G T 6: 103,675,145 V341F probably damaging Het
Cst3 A T 2: 148,872,877 C93* probably null Het
Ctsh T C 9: 90,064,238 V119A probably damaging Het
Dmap1 C T 4: 117,676,396 R225Q possibly damaging Het
Ehbp1 A G 11: 22,100,460 S479P possibly damaging Het
Eml2 A G 7: 19,202,582 Y528C probably damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
G6pc3 A G 11: 102,193,105 M186V probably benign Het
Gpr37 A G 6: 25,669,318 V509A possibly damaging Het
Heatr5b G T 17: 78,824,634 H347N possibly damaging Het
Idh1 A G 1: 65,166,243 S188P probably damaging Het
Mphosph8 T C 14: 56,672,544 V118A probably benign Het
Mthfsd C T 8: 121,104,468 R91Q probably damaging Het
Otor G A 2: 143,079,926 V86I probably damaging Het
Pdk2 T A 11: 95,031,935 T140S probably benign Het
Pnliprp2 A G 19: 58,760,497 N78S probably benign Het
Rimbp3 C T 16: 17,211,688 T992M probably damaging Het
Sdad1 A T 5: 92,303,773 probably null Het
Sidt2 A G 9: 45,949,803 S71P possibly damaging Het
Slc44a2 T A 9: 21,345,935 V390E probably damaging Het
Tmem168 T C 6: 13,602,675 I231V probably benign Het
Uhrf1bp1 T A 17: 27,879,292 I136N probably damaging Het
Vim T C 2: 13,578,510 probably null Het
Other mutations in Ccnl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01936:Ccnl2 APN 4 155820399 missense probably damaging 1.00
IGL02029:Ccnl2 APN 4 155821862 missense probably benign 0.05
IGL03244:Ccnl2 APN 4 155821022 missense probably benign 0.20
R2069:Ccnl2 UTSW 4 155812481 splice site probably null
R4996:Ccnl2 UTSW 4 155813524 missense possibly damaging 0.46
R7206:Ccnl2 UTSW 4 155820974 missense possibly damaging 0.66
R8304:Ccnl2 UTSW 4 155813222 missense probably benign 0.14
Posted On2012-12-06