Incidental Mutation 'R6807:Cer1'
ID 533578
Institutional Source Beutler Lab
Gene Symbol Cer1
Ensembl Gene ENSMUSG00000038192
Gene Name cerberus 1, DAN family BMP antagonist
Synonyms Cerl, cer-1, Cerberus-like, Cerl1, Cerr1
MMRRC Submission 044920-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R6807 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 82799988-82803385 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82801052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 204 (S204G)
Ref Sequence ENSEMBL: ENSMUSP00000048607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048430]
AlphaFold O55233
Predicted Effect probably benign
Transcript: ENSMUST00000048430
AA Change: S204G

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000048607
Gene: ENSMUSG00000038192
AA Change: S204G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
CT 164 246 1.73e-28 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.9%
Validation Efficiency 100% (72/72)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,282,356 (GRCm39) T2158A probably benign Het
Apeh G A 9: 107,969,878 (GRCm39) H186Y probably damaging Het
Apol7a T C 15: 77,277,520 (GRCm39) probably null Het
Bicdl1 C T 5: 115,810,202 (GRCm39) probably null Het
Bop1 T A 15: 76,339,183 (GRCm39) Q362L probably damaging Het
C4b T C 17: 34,949,930 (GRCm39) D1418G probably benign Het
Cdh23 A G 10: 60,214,650 (GRCm39) V1455A possibly damaging Het
Cecr2 T G 6: 120,711,503 (GRCm39) probably null Het
Cers3 G C 7: 66,413,968 (GRCm39) W15C probably damaging Het
Csn1s2a A T 5: 87,929,731 (GRCm39) H110L probably benign Het
Dnah10 T G 5: 124,867,064 (GRCm39) probably null Het
Dync2h1 T C 9: 7,041,718 (GRCm39) N3315S probably benign Het
Dynlrb2 T C 8: 117,234,299 (GRCm39) M21T probably benign Het
Emilin1 T A 5: 31,072,871 (GRCm39) F103I probably benign Het
Esrra T A 19: 6,889,142 (GRCm39) M416L probably benign Het
Etaa1 C A 11: 17,902,680 (GRCm39) V86L probably benign Het
Extl3 A G 14: 65,314,211 (GRCm39) S324P probably damaging Het
Fam90a1a T C 8: 22,453,368 (GRCm39) V241A probably benign Het
Fat4 C A 3: 39,036,589 (GRCm39) Q3414K probably benign Het
Gpr162 C T 6: 124,838,164 (GRCm39) R162H probably damaging Het
Gpr21 T A 2: 37,407,974 (GRCm39) Y173* probably null Het
Gprc6a G A 10: 51,502,841 (GRCm39) Q341* probably null Het
Herc2 T A 7: 55,814,670 (GRCm39) S2674R probably damaging Het
Hnrnpdl A T 5: 100,186,995 (GRCm39) H9Q probably null Het
Hps1 A G 19: 42,759,217 (GRCm39) V125A possibly damaging Het
Iba57 G T 11: 59,049,440 (GRCm39) P243H probably damaging Het
Incenp G T 19: 9,855,120 (GRCm39) A597E unknown Het
Kat6a T A 8: 23,430,384 (GRCm39) M1913K unknown Het
Klb G A 5: 65,536,877 (GRCm39) V736M probably damaging Het
Krt33a T A 11: 99,903,209 (GRCm39) T278S possibly damaging Het
Krt73 T G 15: 101,704,842 (GRCm39) E348A probably damaging Het
Lig3 T A 11: 82,674,577 (GRCm39) D134E probably benign Het
Limd2 T C 11: 106,049,771 (GRCm39) T73A probably benign Het
Lrpprc A G 17: 85,056,531 (GRCm39) S787P possibly damaging Het
Macf1 A G 4: 123,268,208 (GRCm39) M6735T probably damaging Het
Mapkbp1 C A 2: 119,851,640 (GRCm39) Q861K probably damaging Het
Mc4r T A 18: 66,992,927 (GRCm39) N62I probably damaging Het
Metap1d G A 2: 71,341,858 (GRCm39) V151I probably damaging Het
Nek2 T C 1: 191,554,729 (GRCm39) V147A probably damaging Het
Nlrp1b A T 11: 71,108,530 (GRCm39) W324R probably damaging Het
Nol4l G T 2: 153,325,746 (GRCm39) S113* probably null Het
Oc90 T A 15: 65,761,463 (GRCm39) D185V probably damaging Het
Or2a52 T C 6: 43,144,172 (GRCm39) F60S probably damaging Het
Or2v1 G A 11: 49,025,805 (GRCm39) R262K probably damaging Het
Or4a71 G A 2: 89,357,932 (GRCm39) T274M probably damaging Het
Or5m13 A T 2: 85,748,382 (GRCm39) T38S possibly damaging Het
Or5p51 T A 7: 107,444,797 (GRCm39) T48S possibly damaging Het
Or8g50 A T 9: 39,648,914 (GRCm39) K268* probably null Het
Pcdha8 A G 18: 37,127,401 (GRCm39) T628A probably damaging Het
Pcsk5 A T 19: 17,549,986 (GRCm39) probably null Het
Pdgfrb T C 18: 61,211,721 (GRCm39) probably null Het
Pgm3 A T 9: 86,438,555 (GRCm39) probably null Het
Pin1rt1 T A 2: 104,545,063 (GRCm39) Y23F probably benign Het
Poli T A 18: 70,663,222 (GRCm39) probably null Het
Pom121 C A 5: 135,409,978 (GRCm39) probably benign Het
Ppp2r5c A G 12: 110,535,456 (GRCm39) D407G possibly damaging Het
Pramel28 A G 4: 143,691,581 (GRCm39) S381P probably damaging Het
Rgs12 A G 5: 35,180,515 (GRCm39) D116G probably null Het
Serpina3b A T 12: 104,099,251 (GRCm39) E255D probably benign Het
Sft2d1rt T C 11: 45,942,859 (GRCm39) Q88R probably damaging Het
Slc46a1 A G 11: 78,357,790 (GRCm39) H281R probably damaging Het
Spata6 T C 4: 111,642,012 (GRCm39) I294T probably benign Het
Srgap1 T A 10: 121,664,631 (GRCm39) probably null Het
Stag1 C T 9: 100,826,903 (GRCm39) R957C probably damaging Het
Stk35 G A 2: 129,643,573 (GRCm39) E186K probably damaging Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tenm4 G A 7: 96,544,478 (GRCm39) V2165I probably damaging Het
Tmem53 T C 4: 117,125,528 (GRCm39) S207P probably benign Het
Ugt2a3 A G 5: 87,484,617 (GRCm39) F136L probably benign Het
Unc13d T C 11: 115,957,577 (GRCm39) K795E probably damaging Het
Zbtb11 C A 16: 55,810,865 (GRCm39) T341K probably benign Het
Other mutations in Cer1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01431:Cer1 APN 4 82,801,068 (GRCm39) missense probably benign 0.24
IGL01586:Cer1 APN 4 82,803,080 (GRCm39) missense probably damaging 1.00
IGL03344:Cer1 APN 4 82,803,062 (GRCm39) missense probably damaging 0.99
R2017:Cer1 UTSW 4 82,801,120 (GRCm39) missense probably damaging 1.00
R4525:Cer1 UTSW 4 82,802,906 (GRCm39) missense possibly damaging 0.85
R4527:Cer1 UTSW 4 82,802,906 (GRCm39) missense possibly damaging 0.85
R5816:Cer1 UTSW 4 82,801,120 (GRCm39) missense probably damaging 0.99
R7536:Cer1 UTSW 4 82,803,205 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TAACCCTCACTTATTCTGTTGAGG -3'
(R):5'- TCATCCGTCTGTGCCTTGAG -3'

Sequencing Primer
(F):5'- TCCAGGGATGAAGGAACCC -3'
(R):5'- AGTGGTCTGAAATGTCTCGAGATGAC -3'
Posted On 2018-09-12