Incidental Mutation 'IGL03244:Ccnl2'
ID 414354
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: 0.399) question?
Stock # IGL03244
Quality Score
Status
Chromosome 4
Chromosomal Location 155896946-155909000 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155905479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 303 (I303T)
Ref Sequence ENSEMBL: ENSMUSP00000030944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030944]
AlphaFold Q9JJA7
Predicted Effect probably benign
Transcript: ENSMUST00000030944
AA Change: I303T

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000030944
Gene: ENSMUSG00000029068
AA Change: I303T

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Aoc1 T C 6: 48,882,756 (GRCm39) Y233H possibly damaging Het
Apaf1 A T 10: 90,885,211 (GRCm39) probably benign Het
Asah2 T C 19: 31,964,342 (GRCm39) Y696C probably damaging Het
Atp8b3 A T 10: 80,370,292 (GRCm39) D112E probably damaging Het
B3gat3 T C 19: 8,903,215 (GRCm39) Y191H probably damaging Het
Capns2 T C 8: 93,628,738 (GRCm39) I209T probably damaging Het
Cdk5rap2 A T 4: 70,199,672 (GRCm39) S817R probably benign Het
Cep57 A T 9: 13,729,683 (GRCm39) L36* probably null Het
Cers4 T A 8: 4,566,878 (GRCm39) V60E probably damaging Het
Ces2e T C 8: 105,655,451 (GRCm39) Y125H probably benign Het
Cyp4f18 T C 8: 72,742,489 (GRCm39) E497G probably benign Het
Ddx24 A T 12: 103,383,864 (GRCm39) M575K possibly damaging Het
Dmxl2 A T 9: 54,323,655 (GRCm39) V1243E probably damaging Het
Elf2 A T 3: 51,165,193 (GRCm39) Y270* probably null Het
Ep400 A G 5: 110,875,429 (GRCm39) L844S unknown Het
F13a1 A T 13: 37,172,870 (GRCm39) I170N possibly damaging Het
Gm16506 T A 14: 43,961,603 (GRCm39) probably benign Het
Grm4 A G 17: 27,653,797 (GRCm39) F463L probably damaging Het
H2-M10.2 A T 17: 36,596,463 (GRCm39) N127K probably benign Het
Lrrc49 T C 9: 60,495,140 (GRCm39) Y691C probably damaging Het
Mbip A C 12: 56,384,547 (GRCm39) probably null Het
Or9k2 T A 10: 129,998,269 (GRCm39) K309* probably null Het
Plod1 C T 4: 148,007,580 (GRCm39) probably null Het
Primpol A G 8: 47,039,475 (GRCm39) W382R probably damaging Het
Rufy2 A G 10: 62,840,483 (GRCm39) E418G probably benign Het
Samm50 T C 15: 84,098,341 (GRCm39) V460A probably benign Het
Senp2 T C 16: 21,859,329 (GRCm39) V460A probably damaging Het
Simc1 A G 13: 54,698,442 (GRCm39) H453R probably benign Het
Slc22a22 A G 15: 57,112,948 (GRCm39) probably benign Het
Spag1 A T 15: 36,234,529 (GRCm39) D763V probably benign Het
Thsd7a T A 6: 12,504,167 (GRCm39) probably benign Het
Tppp G T 13: 74,169,535 (GRCm39) V92F possibly damaging Het
Vmn1r32 G A 6: 66,530,489 (GRCm39) L96F probably damaging Het
Vmn2r53 C A 7: 12,340,435 (GRCm39) A13S probably damaging Het
Vmn2r75 G A 7: 85,820,933 (GRCm39) probably benign Het
Zfp750 C A 11: 121,404,513 (GRCm39) G121* probably null 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
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 2016-08-02