Incidental Mutation 'IGL03093:Creb3l3'
ID 418470
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Creb3l3
Ensembl Gene ENSMUSG00000035041
Gene Name cAMP responsive element binding protein 3-like 3
Synonyms CREB-H, D10Bur1e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03093
Quality Score
Status
Chromosome 10
Chromosomal Location 80920163-80934706 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80927047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 128 (S128P)
Ref Sequence ENSEMBL: ENSMUSP00000112836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117422]
AlphaFold Q91XE9
Predicted Effect probably benign
Transcript: ENSMUST00000117422
AA Change: S128P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112836
Gene: ENSMUSG00000035041
AA Change: S128P

DomainStartEndE-ValueType
low complexity region 179 199 N/A INTRINSIC
BRLZ 237 301 4.36e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125907
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127374
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143969
Coding Region Coverage
Validation Efficiency
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 basic-leucine zipper family and the AMP-dependent transcription factor family. The encoded protein is localized to the endoplasmic reticulum and acts as a transcription factor activated by cyclic AMP stimulation. The encoded protein binds the cyclic AMP response element (CRE) and the box-B element and has been linked to acute inflammatory response, hepatocellular carcinoma, triglyceride metabolism, and hepcidin expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and healthy but exhibit reduced expression of acute phase response proteins following treatment with tunicamycin that induces ER stress. Mice homozygous for a different knock-out allele exhibit resistanceto sulpyrine-induced shock. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 A G 19: 53,219,638 (GRCm39) D121G probably damaging Het
Cacna1s A G 1: 136,043,802 (GRCm39) D1380G probably benign Het
Clca3a1 T C 3: 144,453,262 (GRCm39) Y487C probably damaging Het
Coro2a A G 4: 46,544,158 (GRCm39) S278P possibly damaging Het
Dab2 A G 15: 6,465,892 (GRCm39) R697G probably damaging Het
Erap1 T C 13: 74,823,399 (GRCm39) F811S probably benign Het
Fam170b A G 14: 32,557,482 (GRCm39) S106G probably damaging Het
Galk2 T C 2: 125,771,563 (GRCm39) L196P probably damaging Het
Gan T C 8: 117,910,314 (GRCm39) M81T probably benign Het
Gemin2 A G 12: 59,068,511 (GRCm39) T197A probably benign Het
Hemgn A T 4: 46,396,504 (GRCm39) M244K probably benign Het
Htr6 A G 4: 138,789,080 (GRCm39) F325S probably damaging Het
Igkv9-120 A G 6: 68,027,398 (GRCm39) D104G probably damaging Het
Itpr2 A C 6: 146,281,008 (GRCm39) I216S probably damaging Het
Lingo1 T C 9: 56,526,748 (GRCm39) I614V possibly damaging Het
Mep1b C T 18: 21,226,710 (GRCm39) T524M probably benign Het
Mtif2 A G 11: 29,480,702 (GRCm39) probably benign Het
Mylk G A 16: 34,732,562 (GRCm39) R614H possibly damaging Het
Or2ag2 T C 7: 106,485,410 (GRCm39) T205A probably benign Het
Or52s19 T C 7: 103,007,446 (GRCm39) probably benign Het
Pabpc4 G A 4: 123,180,502 (GRCm39) D75N probably damaging Het
Paics T A 5: 77,109,355 (GRCm39) probably null Het
Prl T A 13: 27,248,870 (GRCm39) I172N probably benign Het
Ripk2 A G 4: 16,152,056 (GRCm39) S168P probably damaging Het
Siglecf T C 7: 43,001,865 (GRCm39) V225A probably damaging Het
Slc36a1 A G 11: 55,110,430 (GRCm39) I86V probably benign Het
Slc6a13 A G 6: 121,309,407 (GRCm39) Y306C probably damaging Het
Soat2 T A 15: 102,066,078 (GRCm39) L250Q probably damaging Het
Tex38 A G 4: 115,637,762 (GRCm39) S14P probably damaging Het
Tm2d1 A T 4: 98,268,921 (GRCm39) C59S possibly damaging Het
Tmco1 A G 1: 167,143,848 (GRCm39) D82G probably damaging Het
Tmem245 G A 4: 56,886,019 (GRCm39) R866W probably damaging Het
Tnip1 G T 11: 54,831,652 (GRCm39) Y7* probably null Het
Trp73 A G 4: 154,189,330 (GRCm39) M48T probably benign Het
Tslp T C 18: 32,948,612 (GRCm39) probably benign Het
Usp47 T C 7: 111,688,827 (GRCm39) F745L probably damaging Het
Vmn2r53 T A 7: 12,334,791 (GRCm39) T290S probably benign Het
Wdr1 T C 5: 38,718,472 (GRCm39) D30G probably benign Het
Zkscan2 T C 7: 123,094,073 (GRCm39) Y247C probably benign Het
Other mutations in Creb3l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01387:Creb3l3 APN 10 80,927,110 (GRCm39) missense probably benign
IGL02651:Creb3l3 APN 10 80,920,668 (GRCm39) missense probably benign 0.03
Shinsplint UTSW 10 80,925,301 (GRCm39) splice site probably null
PIT4382001:Creb3l3 UTSW 10 80,920,746 (GRCm39) missense probably benign 0.01
R0501:Creb3l3 UTSW 10 80,922,416 (GRCm39) missense probably benign 0.29
R2421:Creb3l3 UTSW 10 80,927,652 (GRCm39) missense probably benign 0.01
R2567:Creb3l3 UTSW 10 80,921,883 (GRCm39) missense probably benign 0.00
R4038:Creb3l3 UTSW 10 80,925,172 (GRCm39) missense probably benign 0.15
R4748:Creb3l3 UTSW 10 80,921,881 (GRCm39) missense probably benign 0.00
R5596:Creb3l3 UTSW 10 80,920,881 (GRCm39) missense probably benign 0.01
R5814:Creb3l3 UTSW 10 80,921,496 (GRCm39) missense probably benign 0.01
R5889:Creb3l3 UTSW 10 80,928,367 (GRCm39) utr 5 prime probably benign
R6135:Creb3l3 UTSW 10 80,921,552 (GRCm39) missense probably benign 0.20
R6299:Creb3l3 UTSW 10 80,924,447 (GRCm39) missense probably damaging 1.00
R6721:Creb3l3 UTSW 10 80,926,977 (GRCm39) missense probably damaging 0.96
R7472:Creb3l3 UTSW 10 80,925,301 (GRCm39) splice site probably null
R7761:Creb3l3 UTSW 10 80,920,833 (GRCm39) missense possibly damaging 0.73
R9074:Creb3l3 UTSW 10 80,924,452 (GRCm39) critical splice acceptor site probably null
R9607:Creb3l3 UTSW 10 80,920,735 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02