Incidental Mutation 'R9413:Creb3l1'
ID 711887
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 # R9413 (G1)
Quality Score 225.009
Status 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

DomainStartEndE-ValueType
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: 99.1%
Validation Efficiency 97% (35/36)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,126,422 (GRCm39) T1194S probably benign Het
Akr7a5 A T 4: 139,038,059 (GRCm39) probably benign Het
Ap3b2 G T 7: 81,127,757 (GRCm39) P140T possibly damaging Het
Ap3s1 T C 18: 46,887,531 (GRCm39) probably null Het
Arrdc2 C T 8: 71,288,892 (GRCm39) R381H probably damaging Het
Atg13 T C 2: 91,511,970 (GRCm39) D286G probably benign Het
C1qtnf4 T C 2: 90,720,648 (GRCm39) F307S probably damaging Het
Cdk5rap1 A T 2: 154,207,880 (GRCm39) probably null Het
Chsy3 C T 18: 59,309,170 (GRCm39) A141V possibly damaging Het
D5Ertd579e A G 5: 36,772,278 (GRCm39) S706P probably damaging Het
Ell2 A G 13: 75,917,705 (GRCm39) D545G Het
Ephb6 T C 6: 41,591,509 (GRCm39) L222P Het
Flnc G A 6: 29,441,484 (GRCm39) R422Q probably benign Het
Gm6619 A T 6: 131,468,370 (GRCm39) D167V unknown Het
Gucy2c T C 6: 136,700,771 (GRCm39) D581G possibly damaging Het
Hectd1 G A 12: 51,792,880 (GRCm39) R2471* probably null Het
Kif1a A T 1: 92,949,019 (GRCm39) M1501K probably benign Het
Mycbpap A G 11: 94,392,321 (GRCm39) V390A probably damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Pex3 A G 10: 13,410,454 (GRCm39) Y236H probably damaging Het
Pglyrp3 G T 3: 91,930,106 (GRCm39) A91S probably damaging Het
Ppp1ca T C 19: 4,244,897 (GRCm39) S292P probably damaging Het
Prkci T C 3: 31,097,915 (GRCm39) V455A probably damaging Het
Prrx1 A G 1: 163,140,182 (GRCm39) V8A probably benign Het
Psd4 C T 2: 24,287,472 (GRCm39) T468I probably benign Het
Rnf213 A G 11: 119,357,059 (GRCm39) E4203G Het
Snrnp27 T C 6: 86,653,255 (GRCm39) D121G possibly damaging Het
Spag6 A T 2: 18,739,029 (GRCm39) M320L probably benign Het
Spata16 T A 3: 26,978,486 (GRCm39) M484K possibly damaging Het
Trim69 G A 2: 122,009,083 (GRCm39) W381* probably null Het
Tubgcp3 A C 8: 12,674,885 (GRCm39) I745S probably damaging Het
Ubxn2b A G 4: 6,204,607 (GRCm39) D156G probably damaging Het
Vmn2r103 A G 17: 20,032,158 (GRCm39) N644S possibly 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
R9410: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
(F):5'- GGTTCCATAACTGGTTGCATCC -3'
(R):5'- TTTTGCAGAGGACCTCGTAC -3'

Sequencing Primer
(F):5'- TCTAGTCATCTTGAGGCAGAACTG -3'
(R):5'- TTTGCAGAGGACCTCGTACAGATG -3'
Posted On 2022-05-16