Incidental Mutation 'R9410:Creb3l1'
ID 711732
Institutional Source Beutler Lab
Gene Symbol Creb3l1
Ensembl Gene ENSMUSG00000027230
Gene Name cAMP responsive element binding protein 3-like 1
Synonyms BBF-2 (drosophila) homolog, Oasis
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9410 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 91812673-91854515 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 91822231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028663]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000028663
SMART Domains Protein: ENSMUSP00000028663
Gene: ENSMUSG00000027230

low complexity region 49 61 N/A INTRINSIC
low complexity region 142 154 N/A INTRINSIC
low complexity region 205 233 N/A INTRINSIC
BRLZ 288 352 8.06e-19 SMART
Meta Mutation Damage Score 0.9497 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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 is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved and the released cytoplasmic transcription factor domain translocates to the nucleus. There it activates the transcription of target genes by binding to box-B elements. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal growth retardation, fragile skeleton, and decreased bone density, cortical and trabecular thickness, and osteoblast maturation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,869,703 (GRCm39) S772L probably benign Het
Ampd2 A T 3: 107,982,590 (GRCm39) V722E probably damaging Het
Appbp2 A T 11: 85,106,067 (GRCm39) F83Y probably damaging Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
B020004C17Rik A T 14: 57,254,273 (GRCm39) Y132F possibly damaging Het
Cnr1 A G 4: 33,944,973 (GRCm39) T454A possibly damaging Het
Ctla4 A T 1: 60,951,911 (GRCm39) T147S probably damaging Het
Ctsa T C 2: 164,677,101 (GRCm39) L152P probably damaging Het
Dgkh T C 14: 78,862,293 (GRCm39) T225A probably damaging Het
Dsg1a A T 18: 20,464,590 (GRCm39) I362F possibly damaging Het
Dzank1 C T 2: 144,324,050 (GRCm39) probably null Het
Ephb2 A T 4: 136,386,948 (GRCm39) C760S probably null Het
Exoc1 T A 5: 76,706,989 (GRCm39) V512E probably benign Het
Faiml C A 9: 99,111,587 (GRCm39) K157N probably benign Het
Fpr2 C T 17: 18,113,604 (GRCm39) T200I probably benign Het
Fscn3 C T 6: 28,430,432 (GRCm39) R201* probably null Het
Hcrtr1 A T 4: 130,029,514 (GRCm39) L189Q probably damaging Het
Igkv4-62 T C 6: 69,376,832 (GRCm39) T84A probably benign Het
Krtap2-4 C A 11: 99,505,437 (GRCm39) R58L possibly damaging Het
Meis1 C T 11: 18,833,987 (GRCm39) probably null Het
Mfsd2b T A 12: 4,915,747 (GRCm39) I422F probably damaging Het
Mre11a G A 9: 14,716,716 (GRCm39) V304M probably damaging Het
Myo5a A G 9: 75,023,496 (GRCm39) E19G probably damaging Het
Ndufa10 A T 1: 92,367,614 (GRCm39) Y339N probably damaging Het
Odad1 T C 7: 45,597,821 (GRCm39) V577A probably benign Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Pcdh15 CAGAGA CAGA 10: 74,481,663 (GRCm39) probably null Het
Pcdh18 G A 3: 49,699,615 (GRCm39) P949L probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Plin4 A G 17: 56,413,995 (GRCm39) V210A probably benign Het
Rnf150 T C 8: 83,762,722 (GRCm39) M319T possibly damaging Het
Rnf180 CGAGG CGAGGAGG 13: 105,386,781 (GRCm39) probably benign Het
Ruvbl2 G A 7: 45,071,618 (GRCm39) Q422* probably null Het
Shroom1 C T 11: 53,354,217 (GRCm39) R46C probably damaging Het
Slc22a2 T C 17: 12,805,732 (GRCm39) F161S probably damaging Het
Src T A 2: 157,311,676 (GRCm39) M468K probably damaging Het
Stag3 T C 5: 138,297,601 (GRCm39) F606L possibly damaging Het
Stau1 T C 2: 166,797,038 (GRCm39) T120A probably benign Het
Sulf2 A C 2: 165,936,444 (GRCm39) L174R Het
Sumf1 A C 6: 108,150,363 (GRCm39) F156C probably damaging Het
Tenm2 T A 11: 36,032,396 (GRCm39) D708V probably damaging Het
Tmprss12 A C 15: 100,190,622 (GRCm39) I331L possibly damaging Het
Tnfrsf10b T G 14: 70,010,849 (GRCm39) C85G probably damaging Het
Trav10d C A 14: 53,048,845 (GRCm39) Q79K probably benign Het
Vmn1r236 T A 17: 21,507,756 (GRCm39) Y291* probably null Het
Vmn2r115 T C 17: 23,578,915 (GRCm39) I796T possibly damaging Het
Zfp189 T A 4: 49,529,942 (GRCm39) H348Q possibly damaging Het
Zfp563 T A 17: 33,321,320 (GRCm39) L40Q probably damaging Het
Other mutations in Creb3l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01765:Creb3l1 APN 2 91,854,446 (GRCm39) missense possibly damaging 0.94
IGL01963:Creb3l1 APN 2 91,823,678 (GRCm39) missense probably benign 0.00
IGL02618:Creb3l1 APN 2 91,813,543 (GRCm39) missense probably benign 0.00
IGL03088:Creb3l1 APN 2 91,825,739 (GRCm39) missense probably benign 0.00
carver UTSW 2 91,854,399 (GRCm39) missense probably benign 0.00
R0609:Creb3l1 UTSW 2 91,817,398 (GRCm39) missense possibly damaging 0.93
R1891:Creb3l1 UTSW 2 91,817,385 (GRCm39) missense probably damaging 1.00
R2298:Creb3l1 UTSW 2 91,822,321 (GRCm39) missense probably damaging 1.00
R2912:Creb3l1 UTSW 2 91,817,398 (GRCm39) missense possibly damaging 0.93
R3084:Creb3l1 UTSW 2 91,825,789 (GRCm39) splice site probably null
R3085:Creb3l1 UTSW 2 91,825,789 (GRCm39) splice site probably null
R3151:Creb3l1 UTSW 2 91,832,378 (GRCm39) missense probably damaging 0.96
R3945:Creb3l1 UTSW 2 91,821,556 (GRCm39) missense probably damaging 1.00
R4175:Creb3l1 UTSW 2 91,813,520 (GRCm39) missense probably benign 0.01
R4302:Creb3l1 UTSW 2 91,823,664 (GRCm39) missense probably damaging 1.00
R4999:Creb3l1 UTSW 2 91,813,571 (GRCm39) missense probably benign
R5035:Creb3l1 UTSW 2 91,817,431 (GRCm39) missense probably benign 0.34
R5684:Creb3l1 UTSW 2 91,821,076 (GRCm39) missense probably damaging 1.00
R5750:Creb3l1 UTSW 2 91,816,608 (GRCm39) missense possibly damaging 0.90
R5860:Creb3l1 UTSW 2 91,854,399 (GRCm39) missense probably benign 0.00
R6144:Creb3l1 UTSW 2 91,822,350 (GRCm39) missense possibly damaging 0.66
R6171:Creb3l1 UTSW 2 91,821,614 (GRCm39) missense probably damaging 0.99
R6239:Creb3l1 UTSW 2 91,825,748 (GRCm39) missense probably damaging 0.99
R8353:Creb3l1 UTSW 2 91,821,274 (GRCm39) nonsense probably null
R8453:Creb3l1 UTSW 2 91,821,274 (GRCm39) nonsense probably null
R9348:Creb3l1 UTSW 2 91,822,231 (GRCm39) critical splice donor site probably null
R9350:Creb3l1 UTSW 2 91,822,231 (GRCm39) critical splice donor site probably null
R9409:Creb3l1 UTSW 2 91,822,231 (GRCm39) critical splice donor site probably null
R9413:Creb3l1 UTSW 2 91,822,231 (GRCm39) critical splice donor site probably null
R9465:Creb3l1 UTSW 2 91,822,231 (GRCm39) critical splice donor site probably null
R9466:Creb3l1 UTSW 2 91,822,231 (GRCm39) critical splice donor site probably null
R9479:Creb3l1 UTSW 2 91,822,231 (GRCm39) critical splice donor site probably null
R9493:Creb3l1 UTSW 2 91,822,231 (GRCm39) critical splice donor site probably null
R9579:Creb3l1 UTSW 2 91,822,231 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-05-16