Incidental Mutation 'IGL01129:Creb3l2'
ID51358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Creb3l2
Ensembl Gene ENSMUSG00000038648
Gene NamecAMP responsive element binding protein 3-like 2
SynonymsBBF2H7, C530025K05Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.414) question?
Stock #IGL01129
Quality Score
Status
Chromosome6
Chromosomal Location37327255-37442146 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 37353634 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000040208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041093]
Predicted Effect probably benign
Transcript: ENSMUST00000041093
SMART Domains Protein: ENSMUSP00000040208
Gene: ENSMUSG00000038648

DomainStartEndE-ValueType
low complexity region 203 220 N/A INTRINSIC
BRLZ 292 356 1.25e-15 SMART
low complexity region 436 452 N/A INTRINSIC
low complexity region 455 469 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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 oasis bZIP transcription factor family. Members of this family can dimerize but form homodimers only. The encoded protein is a transcriptional activator. Translocations between this gene on chromosome 7 and the gene fused in sarcoma on chromosome 16 can be found in some tumors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe chondrodysplasia and die shortly after first birth from suffocation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik A T X: 67,920,604 F216L possibly damaging Het
Bace2 T G 16: 97,408,430 N181K probably damaging Het
Cc2d1a G T 8: 84,143,404 H161N probably benign Het
Ckap2 C T 8: 22,169,758 G569D probably damaging Het
Col11a1 T C 3: 114,185,873 probably benign Het
Col1a2 G A 6: 4,535,846 D939N unknown Het
Cuedc1 T A 11: 88,183,254 S205T possibly damaging Het
Cux1 G A 5: 136,304,718 probably benign Het
Cyp3a59 A G 5: 146,098,279 M256V probably benign Het
Gzf1 C A 2: 148,690,996 P690Q probably damaging Het
Lrch3 T A 16: 32,994,965 D575E probably benign Het
Lypd3 A G 7: 24,640,593 M362V probably benign Het
Mppe1 C A 18: 67,237,444 G61* probably null Het
Nr2c2 T A 6: 92,158,416 D328E probably benign Het
Olfr6 T C 7: 106,956,427 N170D probably damaging Het
Pfn4 T A 12: 4,775,505 V114E probably damaging Het
Rab14 T C 2: 35,183,386 probably benign Het
Slc30a9 G T 5: 67,342,143 G315C probably damaging Het
Spag16 A T 1: 69,896,522 S303C probably benign Het
Spata16 C T 3: 26,913,184 probably benign Het
Srcap T C 7: 127,521,651 V161A probably damaging Het
Srd5a3 A G 5: 76,149,746 probably benign Het
Vmn1r18 A T 6: 57,390,497 F24Y probably benign Het
Vmn1r78 A T 7: 12,153,238 T259S probably benign Het
Zc3h13 G A 14: 75,335,999 D1527N probably damaging Het
Other mutations in Creb3l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0611:Creb3l2 UTSW 6 37334481 missense probably benign 0.01
R0634:Creb3l2 UTSW 6 37334348 splice site probably benign
R3755:Creb3l2 UTSW 6 37364026 missense possibly damaging 0.86
R3808:Creb3l2 UTSW 6 37355690 missense probably damaging 0.96
R4060:Creb3l2 UTSW 6 37334549 missense probably benign 0.32
R4771:Creb3l2 UTSW 6 37334577 missense probably benign 0.26
R6031:Creb3l2 UTSW 6 37334434 missense probably benign 0.01
R6031:Creb3l2 UTSW 6 37334434 missense probably benign 0.01
R7051:Creb3l2 UTSW 6 37336265 missense possibly damaging 0.77
R7381:Creb3l2 UTSW 6 37335848 missense probably damaging 1.00
R7491:Creb3l2 UTSW 6 37379859 missense probably benign 0.01
R7868:Creb3l2 UTSW 6 37335869 missense probably damaging 0.99
Posted On2013-06-21