Incidental Mutation 'R4638:Cebpa'
ID 350796
Institutional Source Beutler Lab
Gene Symbol Cebpa
Ensembl Gene ENSMUSG00000034957
Gene Name CCAAT/enhancer binding protein alpha
Synonyms C/ebpalpha, Cebp, C/EBP alpha
MMRRC Submission 041900-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4638 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 34818718-34821353 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34819687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 282 (N282D)
Ref Sequence ENSEMBL: ENSMUSP00000096129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042985] [ENSMUST00000205391]
AlphaFold P53566
Predicted Effect probably damaging
Transcript: ENSMUST00000042985
AA Change: N282D

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096129
Gene: ENSMUSG00000034957
AA Change: N282D

DomainStartEndE-ValueType
low complexity region 29 54 N/A INTRINSIC
low complexity region 91 135 N/A INTRINSIC
low complexity region 181 201 N/A INTRINSIC
low complexity region 218 255 N/A INTRINSIC
low complexity region 262 278 N/A INTRINSIC
BRLZ 281 345 3.2e-13 SMART
Predicted Effect silent
Transcript: ENSMUST00000205391
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205799
Meta Mutation Damage Score 0.0743 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 91% (40/44)
MGI Phenotype FUNCTION: This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. The use of alternative in-frame non-AUG (CUG) and AUG start codons results in several protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the CUG and the first AUG start codons. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defects of the liver, neutrophils, lung, and brown fat, resulting in impaired glycogen storage and lipid accumulation, hypoglycemia, reduced uncoupling protein, and neonatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 A G 17: 84,999,369 (GRCm39) D155G probably damaging Het
Ano4 C T 10: 88,790,559 (GRCm39) A847T probably damaging Het
B4galt7 T C 13: 55,747,959 (GRCm39) probably benign Het
Camk1g T A 1: 193,038,667 (GRCm39) D85V probably damaging Het
Caskin1 G A 17: 24,725,602 (GRCm39) S1296N probably benign Het
Cngb1 G A 8: 95,992,647 (GRCm39) T196M probably damaging Het
Cobll1 T C 2: 64,929,581 (GRCm39) M619V probably benign Het
Coro7 A T 16: 4,450,151 (GRCm39) I566N probably damaging Het
Dpyd A T 3: 119,059,726 (GRCm39) S808C probably benign Het
Fbn2 A G 18: 58,143,376 (GRCm39) V2893A probably benign Het
Gm10801 G C 2: 98,494,352 (GRCm39) R143T possibly damaging Het
Krba1 T A 6: 48,386,685 (GRCm39) L441* probably null Het
Lama5 T C 2: 179,832,206 (GRCm39) T1712A possibly damaging Het
Lnpep G A 17: 17,795,569 (GRCm39) T314I probably damaging Het
Lyst T C 13: 13,871,379 (GRCm39) probably null Het
Naa16 C A 14: 79,577,473 (GRCm39) probably null Het
Nek7 A T 1: 138,472,038 (GRCm39) F34Y probably benign Het
Or12e7 T C 2: 87,288,327 (GRCm39) S273P possibly damaging Het
Or2ag17 A T 7: 106,390,205 (GRCm39) M1K probably null Het
Park7 G A 4: 150,991,556 (GRCm39) Q45* probably null Het
Pclo C A 5: 14,730,447 (GRCm39) S2983* probably null Het
Pth1r A G 9: 110,556,141 (GRCm39) L244P possibly damaging Het
Pyroxd1 C G 6: 142,300,467 (GRCm39) S199* probably null Het
Slc11a1 G A 1: 74,414,437 (GRCm39) probably benign Het
Slc12a8 T G 16: 33,410,693 (GRCm39) S200A possibly damaging Het
Slc7a10 A G 7: 34,897,355 (GRCm39) E262G probably damaging Het
Smg1 T C 7: 117,795,149 (GRCm39) probably benign Het
Snapc4 A G 2: 26,255,314 (GRCm39) L1070P probably damaging Het
Sp2 A G 11: 96,848,300 (GRCm39) I435T possibly damaging Het
Srp72 A G 5: 77,138,142 (GRCm39) E309G probably benign Het
Sympk G T 7: 18,777,385 (GRCm39) R545L possibly damaging Het
Tie1 C T 4: 118,341,039 (GRCm39) R314H probably benign Het
Tmem198 G T 1: 75,456,351 (GRCm39) G2* probably null Het
Tmem81 A G 1: 132,435,943 (GRCm39) probably benign Het
Ttn A T 2: 76,652,821 (GRCm39) V10938E possibly damaging Het
Zfp773 T A 7: 7,138,335 (GRCm39) Y100F probably damaging Het
Other mutations in Cebpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0529:Cebpa UTSW 7 34,819,624 (GRCm39) missense probably benign
R2061:Cebpa UTSW 7 34,818,947 (GRCm39) missense probably damaging 0.96
R2211:Cebpa UTSW 7 34,819,891 (GRCm39) missense probably damaging 1.00
R4869:Cebpa UTSW 7 34,819,246 (GRCm39) missense probably damaging 0.97
R5269:Cebpa UTSW 7 34,819,283 (GRCm39) missense probably benign 0.03
R7957:Cebpa UTSW 7 34,819,867 (GRCm39) missense possibly damaging 0.93
R8900:Cebpa UTSW 7 34,819,906 (GRCm39) missense possibly damaging 0.70
R9452:Cebpa UTSW 7 34,819,033 (GRCm39) missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- ACTTGCAGTTCCAGATCGCG -3'
(R):5'- CTTGACCAAGGAGCTCTCAG -3'

Sequencing Primer
(F):5'- AGTTCCAGATCGCGCACTG -3'
(R):5'- AAGGAGCTCTCAGGCAGCTG -3'
Posted On 2015-10-08