Incidental Mutation 'IGL02029:Ccnl2'
ID 184312
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccnl2
Ensembl Gene ENSMUSG00000029068
Gene Name cyclin L2
Synonyms 1700010A01Rik, Pcee, 1810019L15Rik, ania-6b, 2010319M22Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.332) question?
Stock # IGL02029
Quality Score
Status
Chromosome 4
Chromosomal Location 155896946-155909000 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155906319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 351 (S351G)
Ref Sequence ENSEMBL: ENSMUSP00000030944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030944]
AlphaFold Q9JJA7
Predicted Effect probably benign
Transcript: ENSMUST00000030944
AA Change: S351G

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000030944
Gene: ENSMUSG00000029068
AA Change: S351G

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap2 T C 10: 126,916,152 (GRCm39) V221A unknown Het
Akr1c13 T A 13: 4,255,361 (GRCm39) Y317* probably null Het
Bicd2 T A 13: 49,522,975 (GRCm39) I30N probably damaging Het
Cadm2 G T 16: 66,544,182 (GRCm39) N291K probably damaging Het
Ccdc61 C T 7: 18,637,423 (GRCm39) C68Y probably damaging Het
Cdcp1 A G 9: 123,012,899 (GRCm39) probably benign Het
Clhc1 T C 11: 29,510,798 (GRCm39) S256P probably benign Het
Fam83h T C 15: 75,878,287 (GRCm39) E37G probably damaging Het
Fancd2 C T 6: 113,547,936 (GRCm39) L938F probably benign Het
Fbn2 G T 18: 58,342,675 (GRCm39) A68E probably benign Het
Fcrl1 T A 3: 87,283,794 (GRCm39) probably benign Het
Ganc A G 2: 120,290,338 (GRCm39) T892A probably benign Het
Gramd1a C T 7: 30,832,249 (GRCm39) R596H possibly damaging Het
Limk1 A T 5: 134,686,808 (GRCm39) Y518* probably null Het
Map1a A G 2: 121,133,779 (GRCm39) T1294A possibly damaging Het
Marchf3 G A 18: 56,940,753 (GRCm39) P126S probably benign Het
Ntn5 A G 7: 45,336,015 (GRCm39) I149V probably benign Het
Nup43 T C 10: 7,543,347 (GRCm39) F8L possibly damaging Het
Or5b122 A T 19: 13,563,468 (GRCm39) M267L probably benign Het
Or5be3 A G 2: 86,864,245 (GRCm39) F107L probably benign Het
P2rx6 C T 16: 17,385,959 (GRCm39) S236F probably benign Het
Peg10 G T 6: 4,754,473 (GRCm39) probably benign Het
Runx2 T A 17: 44,969,574 (GRCm39) R238* probably null Het
Serpinb9d A T 13: 33,380,512 (GRCm39) I133L possibly damaging Het
Snph A G 2: 151,435,527 (GRCm39) V434A probably damaging Het
Trp53rkb C A 2: 166,637,314 (GRCm39) P90Q probably damaging Het
Ttn C A 2: 76,580,148 (GRCm39) E21836* probably null Het
Tut7 A G 13: 59,932,702 (GRCm39) probably benign Het
Ube3c T A 5: 29,824,326 (GRCm39) F507I probably damaging Het
Ugt1a6a T C 1: 88,066,403 (GRCm39) S70P probably benign Het
Zfp354b C T 11: 50,814,664 (GRCm39) C87Y probably benign Het
Zfp462 G T 4: 55,079,395 (GRCm39) probably benign 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
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
R8304:Ccnl2 UTSW 4 155,897,679 (GRCm39) missense probably benign 0.14
Posted On 2014-05-07