Incidental Mutation 'R4823:Cebpd'
ID 426182
Institutional Source Beutler Lab
Gene Symbol Cebpd
Ensembl Gene ENSMUSG00000071637
Gene Name CCAAT/enhancer binding protein (C/EBP), delta
MMRRC Submission 042439-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4823 (G1)
Quality Score 156
Status Validated
Chromosome 16
Chromosomal Location 15887286-15891031 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 15888114 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 264 (G264S)
Ref Sequence ENSEMBL: ENSMUSP00000148145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040248] [ENSMUST00000096232]
AlphaFold Q00322
Predicted Effect probably benign
Transcript: ENSMUST00000040248
SMART Domains Protein: ENSMUSP00000038820
Gene: ENSMUSG00000041974

Pfam:DUF4502 11 390 1.8e-177 PFAM
low complexity region 499 508 N/A INTRINSIC
Pfam:DUF4503 540 921 2.2e-179 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000096232
AA Change: G264S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210772
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 98% (96/98)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this intronless gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-alpha. The encoded protein is important in the regulation of genes involved in immune and inflammatory responses, and may be involved in the regulation of genes associated with activation and/or differentiation of macrophages. The cytogenetic location of this locus has been reported as both 8p11 and 8q11. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and healthy and perform normally on several behavioral tasks, but display enhanced contextual fear conditioning. Mice homozygous for a second knock-out allele exhibit nearly normal or only slightly impaired adipocyte differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik G A 5: 87,972,598 (GRCm38) D405N probably benign Het
4921517D22Rik T G 13: 59,690,904 (GRCm38) E38A probably damaging Het
4930433I11Rik A T 7: 40,993,362 (GRCm38) I152F probably benign Het
5830473C10Rik T A 5: 90,566,503 (GRCm38) L124H probably benign Het
Aass A T 6: 23,107,691 (GRCm38) D364E probably benign Het
Adamts2 A G 11: 50,737,187 (GRCm38) D238G probably benign Het
Aplf G A 6: 87,646,255 (GRCm38) L302F probably damaging Het
Apol7b G T 15: 77,427,782 (GRCm38) probably benign Het
Arhgef12 A G 9: 43,020,696 (GRCm38) V165A probably benign Het
Ascc3 T C 10: 50,713,233 (GRCm38) S1017P probably damaging Het
B230104I21Rik T A 4: 154,349,747 (GRCm38) probably benign Het
Bfsp2 C A 9: 103,479,883 (GRCm38) C115F probably damaging Het
Bhmt2 A T 13: 93,663,290 (GRCm38) W213R probably benign Het
C87499 T C 4: 88,629,215 (GRCm38) K160R probably damaging Het
Capn5 A T 7: 98,126,441 (GRCm38) V431E probably damaging Het
Ccdc88c A G 12: 100,930,543 (GRCm38) Y1390H probably damaging Het
Ccr3 A G 9: 124,028,681 (GRCm38) T18A probably damaging Het
Cdh5 T C 8: 104,142,669 (GRCm38) S676P probably benign Het
Ceacam5 A G 7: 17,757,744 (GRCm38) T680A possibly damaging Het
Cfd T C 10: 79,890,948 (GRCm38) V8A probably benign Het
Cops9 C T 1: 92,641,866 (GRCm38) probably benign Het
Cpne6 T C 14: 55,517,010 (GRCm38) Y533H probably damaging Het
Cyp2c67 T A 19: 39,615,724 (GRCm38) H396L probably benign Het
Cyp2j9 G A 4: 96,568,735 (GRCm38) P500S possibly damaging Het
Cyp4a12a A T 4: 115,327,413 (GRCm38) probably null Het
Dbt G A 3: 116,523,387 (GRCm38) D71N probably damaging Het
Ddx41 G T 13: 55,532,055 (GRCm38) Q440K probably benign Het
Doxl2 A G 6: 48,975,261 (GRCm38) D40G probably damaging Het
Elovl4 A G 9: 83,780,685 (GRCm38) F174S probably damaging Het
Emcn C G 3: 137,423,426 (GRCm38) P193R probably damaging Het
Etnk1 T C 6: 143,167,638 (GRCm38) probably null Het
Fads3 A C 19: 10,041,888 (GRCm38) S53R probably damaging Het
Fam193a A G 5: 34,459,028 (GRCm38) E849G probably damaging Het
Fat3 A G 9: 15,996,507 (GRCm38) V2733A probably benign Het
Frem3 T A 8: 80,613,958 (GRCm38) M960K probably benign Het
Frmd6 A T 12: 70,872,575 (GRCm38) I62L probably benign Het
Glmp T C 3: 88,325,223 (GRCm38) probably benign Het
Gm17421 T C 12: 113,369,541 (GRCm38) noncoding transcript Het
Gm27013 T A 6: 130,522,223 (GRCm38) noncoding transcript Het
Gtf2ird1 A G 5: 134,395,722 (GRCm38) V390A probably damaging Het
Hps3 A G 3: 20,012,726 (GRCm38) Y559H probably benign Het
Hsh2d G A 8: 72,200,460 (GRCm38) D229N probably benign Het
Itpr3 A G 17: 27,085,147 (GRCm38) D114G probably benign Het
Jmjd4 G A 11: 59,455,580 (GRCm38) A408T probably benign Het
Kcnh4 G T 11: 100,755,174 (GRCm38) A316D probably damaging Het
Klrg1 T A 6: 122,273,533 (GRCm38) probably null Het
Lancl2 T A 6: 57,732,277 (GRCm38) Y355N probably damaging Het
Ltb T C 17: 35,195,230 (GRCm38) S115P probably benign Het
Mccc2 T G 13: 100,000,254 (GRCm38) R64S probably benign Het
Mgam2-ps T A 6: 40,832,662 (GRCm38) noncoding transcript Het
Mrrf T G 2: 36,148,030 (GRCm38) N104K possibly damaging Het
Nipa1 C A 7: 55,979,688 (GRCm38) V226L possibly damaging Het
Numa1 T A 7: 101,996,037 (GRCm38) L290Q probably damaging Het
Ofcc1 T A 13: 40,280,473 (GRCm38) H52L probably damaging Het
Ogfod3 G A 11: 121,195,201 (GRCm38) A189V probably benign Het
Olfr1176 A G 2: 88,339,835 (GRCm38) D90G probably damaging Het
Olfr1444 A T 19: 12,861,816 (GRCm38) I14F probably benign Het
Olfr1505 G A 19: 13,919,658 (GRCm38) V213I probably benign Het
Olfr292 T A 7: 86,694,588 (GRCm38) I44N probably damaging Het
P2ry12 G A 3: 59,217,897 (GRCm38) S119L probably benign Het
Pde7b T A 10: 20,438,785 (GRCm38) N192Y probably damaging Het
Pfkl T C 10: 77,997,594 (GRCm38) N258S probably damaging Het
Phykpl G A 11: 51,586,593 (GRCm38) A71T probably damaging Het
Ppp1r16a T C 15: 76,693,193 (GRCm38) probably benign Het
Pramef20 T C 4: 144,373,211 (GRCm38) N328S possibly damaging Het
Prune2 C T 19: 17,120,504 (GRCm38) T1124M probably damaging Het
Rapgef6 A G 11: 54,694,500 (GRCm38) I1570V probably benign Het
Rbm34 T C 8: 126,970,905 (GRCm38) S19G probably benign Het
Rnf10 T C 5: 115,255,442 (GRCm38) probably null Het
Rnf34 A G 5: 122,850,302 (GRCm38) probably null Het
Setd4 A G 16: 93,589,950 (GRCm38) S287P probably benign Het
Shc3 C T 13: 51,451,570 (GRCm38) V225I probably benign Het
Sipa1l3 C T 7: 29,371,002 (GRCm38) V1030I probably damaging Het
Siva1 G T 12: 112,645,064 (GRCm38) R33L probably damaging Het
Slc4a5 C T 6: 83,272,133 (GRCm38) T573I probably damaging Het
Sorcs1 C T 19: 50,678,140 (GRCm38) R110Q possibly damaging Het
Sorcs1 T C 19: 50,230,302 (GRCm38) I581V possibly damaging Het
Sorl1 T C 9: 41,992,321 (GRCm38) D1545G probably damaging Het
Tas2r124 T G 6: 132,755,546 (GRCm38) S273A probably damaging Het
Tcf15 T C 2: 152,143,893 (GRCm38) F90L probably damaging Het
Trim59 G A 3: 69,037,120 (GRCm38) R296C probably benign Het
Tulp1 A T 17: 28,353,572 (GRCm38) D229E probably benign Het
Ush1c T A 7: 46,195,733 (GRCm38) N886I probably benign Het
Usp9y A T Y: 1,444,559 (GRCm38) S127T probably damaging Het
Vmn1r19 T A 6: 57,405,234 (GRCm38) Y257* probably null Het
Vmn2r109 A T 17: 20,553,891 (GRCm38) Y401N probably damaging Het
Vmn2r69 A C 7: 85,411,300 (GRCm38) S359A probably benign Het
Zfp37 A T 4: 62,191,503 (GRCm38) N479K probably benign Het
Other mutations in Cebpd
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3958:Cebpd UTSW 16 15,887,463 (GRCm38) missense possibly damaging 0.60
R4674:Cebpd UTSW 16 15,887,521 (GRCm38) missense probably damaging 1.00
R4675:Cebpd UTSW 16 15,887,521 (GRCm38) missense probably damaging 1.00
R4824:Cebpd UTSW 16 15,888,114 (GRCm38) missense probably benign 0.01
R8163:Cebpd UTSW 16 15,887,977 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-08-16