Incidental Mutation 'R5816:Cer1'
ID 449037
Institutional Source Beutler Lab
Gene Symbol Cer1
Ensembl Gene ENSMUSG00000038192
Gene Name cerberus 1, DAN family BMP antagonist
Synonyms Cerl1, Cerr1, Cerl, cer-1, Cerberus-like
MMRRC Submission 043214-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.193) question?
Stock # R5816 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 82881751-82885148 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82882883 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 181 (V181A)
Ref Sequence ENSEMBL: ENSMUSP00000048607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048430]
AlphaFold O55233
Predicted Effect probably damaging
Transcript: ENSMUST00000048430
AA Change: V181A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048607
Gene: ENSMUSG00000038192
AA Change: V181A

signal peptide 1 17 N/A INTRINSIC
CT 164 246 1.73e-28 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytokine member of the cysteine knot superfamily, characterized by nine conserved cysteines and a cysteine knot region. The cerberus-related cytokines, together with Dan and DRM/Gremlin, represent a group of bone morphogenetic protein (BMP) antagonists that can bind directly to BMPs and inhibit their activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for most disruptions in this gene appear normal although one allele displays behavioral abnormalities and a mild increase in body weight with age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,343,737 D1501G probably damaging Het
Aldh8a1 A T 10: 21,395,430 I352F probably damaging Het
Bend7 G A 2: 4,744,332 E87K probably damaging Het
Bend7 A G 2: 4,752,899 R251G probably benign Het
Cep72 A T 13: 74,049,031 S402T probably benign Het
Ces1b T C 8: 93,073,262 N162S probably benign Het
Cyp1a2 T C 9: 57,681,053 N296S probably benign Het
Dst C T 1: 34,179,234 A1585V probably benign Het
Dzip1 G A 14: 118,909,480 P339L probably benign Het
Eif4enif1 T C 11: 3,242,401 I568T probably benign Het
Eif5a C T 11: 69,917,673 R109Q possibly damaging Het
Fam49a A G 12: 12,358,165 D64G probably benign Het
Foxj2 G A 6: 122,833,736 S225N probably benign Het
Galnt14 T C 17: 73,574,882 Y74C probably damaging Het
Glrb T A 3: 80,861,979 N147I probably damaging Het
Grb14 A T 2: 64,917,284 M377K probably damaging Het
Kcng1 C T 2: 168,268,723 E174K possibly damaging Het
Kdm3b A C 18: 34,828,469 E1433A probably damaging Het
Matn3 G A 12: 8,970,571 R481H probably damaging Het
Mcm6 A G 1: 128,348,455 V331A probably benign Het
Mdga2 T C 12: 66,655,182 Y415C probably damaging Het
Med11 T C 11: 70,452,285 S65P probably damaging Het
Metrnl T A 11: 121,708,112 S166T probably benign Het
Mllt6 A G 11: 97,672,574 K328E probably damaging Het
Nek5 T C 8: 22,096,736 K353R probably benign Het
Olfr599 A G 7: 103,338,995 T314A probably benign Het
Olfr965 T A 9: 39,719,230 M1K probably null Het
Pfkl A T 10: 78,002,022 N46K possibly damaging Het
Phactr3 A G 2: 178,302,793 E428G probably damaging Het
Pkhd1 T C 1: 20,058,678 S3934G probably benign Het
Pkhd1l1 A G 15: 44,566,322 D3312G probably benign Het
Prmt8 G A 6: 127,697,738 T309I probably benign Het
Psd3 A T 8: 67,960,510 V742E possibly damaging Het
S100a14 A G 3: 90,527,850 H56R probably damaging Het
Scaf8 T A 17: 3,177,713 S406T unknown Het
Slc26a4 G T 12: 31,528,685 H656Q probably damaging Het
Smarcc1 T C 9: 110,197,644 V724A possibly damaging Het
Thbs2 C T 17: 14,684,071 probably null Het
Zbtb6 A T 2: 37,429,215 F234I probably benign Het
Zfp536 C T 7: 37,480,628 D851N probably damaging Het
Other mutations in Cer1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01431:Cer1 APN 4 82882831 missense probably benign 0.24
IGL01586:Cer1 APN 4 82884843 missense probably damaging 1.00
IGL03344:Cer1 APN 4 82884825 missense probably damaging 0.99
R2017:Cer1 UTSW 4 82882883 missense probably damaging 1.00
R4525:Cer1 UTSW 4 82884669 missense possibly damaging 0.85
R4527:Cer1 UTSW 4 82884669 missense possibly damaging 0.85
R6807:Cer1 UTSW 4 82882815 missense probably benign 0.08
R7536:Cer1 UTSW 4 82884968 missense probably benign 0.09
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-12-20