Incidental Mutation 'R6721:Creb3l3'
ID 529596
Institutional Source Beutler Lab
Gene Symbol Creb3l3
Ensembl Gene ENSMUSG00000035041
Gene Name cAMP responsive element binding protein 3-like 3
Synonyms CREB-H, D10Bur1e
MMRRC Submission 044839-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6721 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 80920163-80934706 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80926977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 151 (D151G)
Ref Sequence ENSEMBL: ENSMUSP00000112836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117422]
AlphaFold Q91XE9
Predicted Effect probably damaging
Transcript: ENSMUST00000117422
AA Change: D151G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112836
Gene: ENSMUSG00000035041
AA Change: D151G

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
Meta Mutation Damage Score 0.1668 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 100% (44/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,629,634 (GRCm39) L3588S probably benign Het
Ankrd27 T C 7: 35,311,976 (GRCm39) F402S probably damaging Het
Aplp1 T C 7: 30,139,720 (GRCm39) Q359R probably null Het
Arhgef10l T C 4: 140,297,655 (GRCm39) Y546C probably damaging Het
Bltp2 T C 11: 78,170,625 (GRCm39) Y1615H probably damaging Het
Cd46 T C 1: 194,765,939 (GRCm39) Y142C probably damaging Het
Cfap418 A G 4: 10,874,744 (GRCm39) N44D probably benign Het
Chd3 T C 11: 69,260,045 (GRCm39) probably benign Het
Cmtm2b A G 8: 105,049,077 (GRCm39) S31G possibly damaging Het
CN725425 A G 15: 91,115,821 (GRCm39) K21R possibly damaging Het
Cngb1 T C 8: 95,997,516 (GRCm39) T560A probably benign Het
Cts7 A T 13: 61,504,108 (GRCm39) V124E probably damaging Het
Ctsd G A 7: 141,930,590 (GRCm39) P349S possibly damaging Het
Ern1 A G 11: 106,302,478 (GRCm39) W459R probably damaging Het
Faxc A T 4: 21,982,672 (GRCm39) probably null Het
Gabbr1 T C 17: 37,365,084 (GRCm39) I239T probably damaging Het
Galnt12 T A 4: 47,122,529 (GRCm39) C269* probably null Het
Gmpr2 A T 14: 55,910,191 (GRCm39) D7V probably damaging Het
Hivep3 T A 4: 119,952,296 (GRCm39) I204N possibly damaging Het
Il16 A T 7: 83,312,270 (GRCm39) probably null Het
Jag1 T C 2: 136,936,394 (GRCm39) T367A probably benign Het
Lefty2 T C 1: 180,722,166 (GRCm39) V168A probably damaging Het
Mecom T C 3: 30,034,023 (GRCm39) E227G probably damaging Het
Muc5ac T A 7: 141,352,729 (GRCm39) C739S possibly damaging Het
Npy1r T A 8: 67,156,941 (GRCm39) C120* probably null Het
Nup153 A G 13: 46,854,502 (GRCm39) V530A probably damaging Het
Ogfr T A 2: 180,237,221 (GRCm39) L602Q possibly damaging Het
Or10g7 C T 9: 39,905,603 (GRCm39) P166S possibly damaging Het
Or10h5 C T 17: 33,434,508 (GRCm39) G270E probably benign Het
Or7e178 A C 9: 20,225,576 (GRCm39) D213E probably benign Het
Perm1 G T 4: 156,302,776 (GRCm39) R440L probably benign Het
Plcb4 T C 2: 135,752,157 (GRCm39) V121A probably benign Het
Plxna4 C T 6: 32,177,794 (GRCm39) V1036M probably benign Het
Ppl A T 16: 4,925,333 (GRCm39) M102K probably damaging Het
Prop1 T C 11: 50,844,213 (GRCm39) S7G probably benign Het
Rabggta A G 14: 55,954,660 (GRCm39) L507P probably damaging Het
Sfmbt2 A G 2: 10,547,836 (GRCm39) T473A probably damaging Het
Spc25 A C 2: 69,027,517 (GRCm39) M125R possibly damaging Het
Taok3 T C 5: 117,393,928 (GRCm39) M567T probably benign Het
Tlr3 A G 8: 45,851,917 (GRCm39) Y327H probably benign Het
Tmem209 A G 6: 30,497,174 (GRCm39) F339L probably benign Het
U2surp T C 9: 95,373,157 (GRCm39) N279S probably damaging Het
Ythdf3 G A 3: 16,258,025 (GRCm39) M61I possibly damaging Het
Zfp647 T C 15: 76,796,076 (GRCm39) I195V 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
IGL03093:Creb3l3 APN 10 80,927,047 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- ATTGAGCACCTACTGAGTTAGC -3'
(R):5'- ACAGTGACAGTGGCATCTCTG -3'

Sequencing Primer
(F):5'- ACCTACTGAGTTAGCCACAGTTG -3'
(R):5'- ACAGTGGCATCTCTGAGGATCTAC -3'
Posted On 2018-08-01