Incidental Mutation 'IGL00694:Crebl2'
ID 9886
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crebl2
Ensembl Gene ENSMUSG00000032652
Gene Name cAMP responsive element binding protein-like 2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # IGL00694
Quality Score
Status
Chromosome 6
Chromosomal Location 134807117-134835894 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134826158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 36 (S36R)
Ref Sequence ENSEMBL: ENSMUSP00000035304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046303] [ENSMUST00000111937]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000046303
AA Change: S36R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035304
Gene: ENSMUSG00000032652
AA Change: S36R

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
Pfam:bZIP_2 24 75 3e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111937
AA Change: S36R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107568
Gene: ENSMUSG00000032652
AA Change: S36R

DomainStartEndE-ValueType
Pfam:bZIP_1 21 73 4.3e-8 PFAM
Pfam:bZIP_2 24 72 5.5e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145643
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203742
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] cAMP response element (CRE)-binding protein-like-2 (CREBL2) was identified in a search to find genes in a commonly deleted region on chromosome 12p13 flanked by ETV6 and CDKN1B genes, frequently associated with hematopoietic malignancies, as well as breast, non-small-cell lung and ovarian cancers. CREBL2 shares a 41% identity with CRE-binding protein (CREB) over a 48-base long region which encodes the bZip domain of CREB. The bZip domain consists of about 30 amino acids rich in basic residues involved in DNA binding, followed by a leucine zipper motif involved in protein dimerization. This suggests that CREBL2 encodes a protein with DNA binding capabilities. The occurance of CREBL2 deletion in malignancy suggests that CREBL2 may act as a tumor suppressor gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T C 3: 151,145,033 (GRCm39) probably benign Het
Aqr A T 2: 113,982,006 (GRCm39) D259E probably damaging Het
Arl14ep A T 2: 106,797,537 (GRCm39) F153L probably damaging Het
Asb15 G T 6: 24,570,663 (GRCm39) R547L possibly damaging Het
Chd8 A C 14: 52,455,427 (GRCm39) V1020G probably damaging Het
Coq2 C T 5: 100,803,180 (GRCm39) S370N probably benign Het
Cyp2c29 A T 19: 39,310,079 (GRCm39) T263S possibly damaging Het
Edem1 T C 6: 108,818,562 (GRCm39) I190T possibly damaging Het
Fbn2 T G 18: 58,170,881 (GRCm39) E2170A possibly damaging Het
Gak T G 5: 108,761,500 (GRCm39) *129C probably null Het
Hc T C 2: 34,881,641 (GRCm39) I1436V probably benign Het
Kmt2c A T 5: 25,498,159 (GRCm39) F534I probably damaging Het
Mfhas1 G A 8: 36,057,925 (GRCm39) R800Q probably benign Het
Npat A G 9: 53,474,817 (GRCm39) T870A probably benign Het
Pde8a T C 7: 80,956,456 (GRCm39) V285A possibly damaging Het
Potegl A T 2: 23,120,180 (GRCm39) Q192L probably damaging Het
Pramel28 G T 4: 143,692,392 (GRCm39) P203Q possibly damaging Het
Slc25a26 T A 6: 94,511,204 (GRCm39) I127N probably damaging Het
Spag1 A T 15: 36,227,317 (GRCm39) E658V possibly damaging Het
St3gal2 A T 8: 111,696,213 (GRCm39) H266L probably damaging Het
Sult6b2 A G 6: 142,736,015 (GRCm39) I193T possibly damaging Het
Tas2r120 T C 6: 132,634,238 (GRCm39) F107L probably benign Het
Thoc1 A G 18: 9,989,744 (GRCm39) D475G possibly damaging Het
Tpo T A 12: 30,155,993 (GRCm39) R169S probably damaging Het
Zhx2 A G 15: 57,685,156 (GRCm39) N175S probably benign Het
Other mutations in Crebl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1886:Crebl2 UTSW 6 134,828,059 (GRCm39) missense probably benign
R2100:Crebl2 UTSW 6 134,828,166 (GRCm39) missense probably benign
R4395:Crebl2 UTSW 6 134,826,208 (GRCm39) missense probably damaging 1.00
R5517:Crebl2 UTSW 6 134,828,139 (GRCm39) missense probably benign 0.00
R5747:Crebl2 UTSW 6 134,828,103 (GRCm39) missense probably damaging 1.00
Z1176:Crebl2 UTSW 6 134,826,252 (GRCm39) nonsense probably null
Z1177:Crebl2 UTSW 6 134,807,396 (GRCm39) missense probably damaging 0.99
Posted On 2012-12-06