Incidental Mutation 'R4302:Creb3l1'
ID 322445
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 041089-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4302 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 91812673-91854515 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91823664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 183 (I183V)
Ref Sequence ENSEMBL: ENSMUSP00000028663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028663]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000028663
AA Change: I183V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000028663
Gene: ENSMUSG00000027230
AA Change: I183V

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 0.0805 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (42/42)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T C 3: 116,540,279 (GRCm39) Y1445C probably damaging Het
Arhgef12 G A 9: 42,929,645 (GRCm39) Q217* probably null Het
Bcas1 A G 2: 170,260,547 (GRCm39) V44A probably benign Het
Cfap251 T C 5: 123,431,873 (GRCm39) I549T probably benign Het
Clic4 A G 4: 134,953,350 (GRCm39) V98A probably benign Het
Col6a3 A T 1: 90,735,336 (GRCm39) I771N probably damaging Het
Dnhd1 T A 7: 105,343,161 (GRCm39) W1502R probably damaging Het
Dync2h1 A T 9: 7,077,880 (GRCm39) S2941T probably benign Het
Gm973 A G 1: 59,590,399 (GRCm39) Y302C possibly damaging Het
Hcfc1 A G X: 72,992,972 (GRCm39) S1398P probably benign Het
Igsf10 T C 3: 59,226,171 (GRCm39) I2501V probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Loxl4 T A 19: 42,596,030 (GRCm39) Y141F probably benign Het
Man2a2 T A 7: 80,001,487 (GRCm39) E1140V possibly damaging Het
Mgam A G 6: 40,740,019 (GRCm39) D1664G probably benign Het
Mill2 A T 7: 18,590,456 (GRCm39) T179S probably damaging Het
Ncf4 T C 15: 78,144,962 (GRCm39) probably benign Het
Nol12 T C 15: 78,824,341 (GRCm39) S154P probably damaging Het
Nup58 A G 14: 60,484,875 (GRCm39) S50P probably benign Het
Or11j4 T C 14: 50,630,903 (GRCm39) I230T probably benign Het
Or12d16-ps1 T A 17: 37,706,377 (GRCm39) N315K probably benign Het
Or7g30 A G 9: 19,352,295 (GRCm39) T29A probably benign Het
Pdss1 T C 2: 22,805,517 (GRCm39) I265T probably damaging Het
Piezo2 T C 18: 63,257,801 (GRCm39) probably null Het
Rad50 T A 11: 53,592,832 (GRCm39) N106I probably benign Het
Rhpn2 A G 7: 35,090,270 (GRCm39) T631A probably benign Het
Rps11 T C 7: 44,772,368 (GRCm39) M80V probably benign Het
Rrm1 T C 7: 102,097,031 (GRCm39) Y104H probably benign Het
Sgsm3 T A 15: 80,894,502 (GRCm39) probably benign Het
Slc9c1 A T 16: 45,365,154 (GRCm39) L162F probably benign Het
Son A G 16: 91,455,299 (GRCm39) T1349A possibly damaging Het
Stk24 A G 14: 121,529,494 (GRCm39) L386S probably benign Het
Tfcp2 G T 15: 100,412,730 (GRCm39) N307K possibly damaging Het
Trbv21 T A 6: 41,179,702 (GRCm39) V6D probably benign Het
Trip11 A T 12: 101,860,027 (GRCm39) D282E probably damaging Het
Ttn G T 2: 76,706,811 (GRCm39) probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r38 A G 7: 9,100,562 (GRCm39) probably null Het
Vps8 T A 16: 21,314,664 (GRCm39) L158Q 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
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
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
(F):5'- TCAGCAAATGGAGTGAGGTATTCG -3'
(R):5'- CTGAGCCCAGAACTCCTGAG -3'

Sequencing Primer
(F):5'- CAAATGGAGTGAGGTATTCGTAGAG -3'
(R):5'- ACTCCTGAGGCCAGCCATTC -3'
Posted On 2015-06-20