Incidental Mutation 'R4060:Creb3l2'
ID 315812
Institutional Source Beutler Lab
Gene Symbol Creb3l2
Ensembl Gene ENSMUSG00000038648
Gene Name cAMP responsive element binding protein 3-like 2
Synonyms BBF2H7, C530025K05Rik
MMRRC Submission 041618-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.424) question?
Stock # R4060 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 37307956-37419083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37311484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 435 (H435R)
Ref Sequence ENSEMBL: ENSMUSP00000040208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041093]
AlphaFold Q8BH52
Predicted Effect probably benign
Transcript: ENSMUST00000041093
AA Change: H435R

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000040208
Gene: ENSMUSG00000038648
AA Change: H435R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128534
Meta Mutation Damage Score 0.0596 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 95% (41/43)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A T 1: 53,197,928 (GRCm39) L140Q probably damaging Het
Abca8b A T 11: 109,848,027 (GRCm39) M756K probably benign Het
Cd44 T C 2: 102,731,687 (GRCm39) D2G probably damaging Het
Cdan1 T C 2: 120,556,224 (GRCm39) I681V probably benign Het
Cdc5l C T 17: 45,721,816 (GRCm39) A485T probably benign Het
Cfh T C 1: 140,047,664 (GRCm39) I488M possibly damaging Het
Cntn2 T A 1: 132,453,634 (GRCm39) L346F probably damaging Het
Dmbt1 A G 7: 130,675,932 (GRCm39) probably benign Het
Fam162a C T 16: 35,864,451 (GRCm39) R38K probably benign Het
Fat1 A T 8: 45,478,518 (GRCm39) E2521D probably benign Het
Foxo1 A G 3: 52,252,583 (GRCm39) R249G probably damaging Het
Grm6 A G 11: 50,744,051 (GRCm39) E174G probably damaging Het
Gtpbp2 G A 17: 46,478,253 (GRCm39) R467H probably damaging Het
Hypk A G 2: 121,284,160 (GRCm39) probably benign Het
Ifih1 T C 2: 62,429,143 (GRCm39) T932A possibly damaging Het
Igfbp1 C A 11: 7,148,091 (GRCm39) P45T probably damaging Het
Ik A G 18: 36,881,943 (GRCm39) K142E probably damaging Het
Ltbp3 T C 19: 5,792,348 (GRCm39) L27P probably benign Het
Mast3 A G 8: 71,233,838 (GRCm39) V969A probably damaging Het
Mrps24 G A 11: 5,654,676 (GRCm39) R93* probably null Het
Or13a20 T C 7: 140,232,033 (GRCm39) I47T probably damaging Het
Or1j14 A G 2: 36,417,426 (GRCm39) M1V probably null Het
Or7g19 T C 9: 18,856,346 (GRCm39) V134A probably benign Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Pcdhb20 A G 18: 37,639,217 (GRCm39) E581G probably damaging Het
Rnf146 T C 10: 29,223,363 (GRCm39) I174M probably damaging Het
Serpinb9g G A 13: 33,679,089 (GRCm39) V320I probably benign Het
Sh3pxd2b G T 11: 32,372,263 (GRCm39) A477S probably benign Het
Slc23a3 T G 1: 75,109,964 (GRCm39) probably benign Het
Ssrp1 T G 2: 84,871,978 (GRCm39) Y401D probably damaging Het
Tas2r109 A T 6: 132,957,148 (GRCm39) W261R probably damaging Het
Tas2r144 T C 6: 42,192,563 (GRCm39) V101A possibly damaging Het
Tead1 T A 7: 112,475,269 (GRCm39) probably null Het
Tiam2 A G 17: 3,479,255 (GRCm39) S663G probably benign Het
Trbv20 T G 6: 41,165,195 (GRCm39) probably benign Het
Tspan9 T C 6: 128,011,135 (GRCm39) I19M probably benign Het
Ttbk2 T A 2: 120,579,465 (GRCm39) E552D probably benign Het
Zfp292 A G 4: 34,810,863 (GRCm39) V727A probably damaging Het
Other mutations in Creb3l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01129:Creb3l2 APN 6 37,330,569 (GRCm39) splice site probably benign
R0611:Creb3l2 UTSW 6 37,311,416 (GRCm39) missense probably benign 0.01
R0634:Creb3l2 UTSW 6 37,311,283 (GRCm39) splice site probably benign
R3755:Creb3l2 UTSW 6 37,340,961 (GRCm39) missense possibly damaging 0.86
R3808:Creb3l2 UTSW 6 37,332,625 (GRCm39) missense probably damaging 0.96
R4771:Creb3l2 UTSW 6 37,311,512 (GRCm39) missense probably benign 0.26
R6031:Creb3l2 UTSW 6 37,311,369 (GRCm39) missense probably benign 0.01
R6031:Creb3l2 UTSW 6 37,311,369 (GRCm39) missense probably benign 0.01
R7051:Creb3l2 UTSW 6 37,313,200 (GRCm39) missense possibly damaging 0.77
R7381:Creb3l2 UTSW 6 37,312,783 (GRCm39) missense probably damaging 1.00
R7491:Creb3l2 UTSW 6 37,356,794 (GRCm39) missense probably benign 0.01
R7868:Creb3l2 UTSW 6 37,312,804 (GRCm39) missense probably damaging 0.99
R9091:Creb3l2 UTSW 6 37,332,583 (GRCm39) missense probably damaging 1.00
R9240:Creb3l2 UTSW 6 37,311,506 (GRCm39) missense possibly damaging 0.56
R9270:Creb3l2 UTSW 6 37,332,583 (GRCm39) missense probably damaging 1.00
R9387:Creb3l2 UTSW 6 37,356,751 (GRCm39) missense probably damaging 0.96
R9476:Creb3l2 UTSW 6 37,311,446 (GRCm39) missense probably damaging 1.00
R9510:Creb3l2 UTSW 6 37,311,446 (GRCm39) missense probably damaging 1.00
R9630:Creb3l2 UTSW 6 37,356,808 (GRCm39) missense possibly damaging 0.82
R9663:Creb3l2 UTSW 6 37,356,926 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGGACCTACAGAACTCACAGG -3'
(R):5'- ACCTGAAGCCATTGCAGAAAG -3'

Sequencing Primer
(F):5'- ACTCACAGGTGCTGCTGAAG -3'
(R):5'- TTGCAGAAAGCCAAACCTAGCTG -3'
Posted On 2015-05-15