Incidental Mutation 'R4527:Cer1'
ID 334472
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 041768-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R4527 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 82799988-82803385 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82802906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 139 (F139L)
Ref Sequence ENSEMBL: ENSMUSP00000048607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048430]
AlphaFold O55233
Predicted Effect possibly damaging
Transcript: ENSMUST00000048430
AA Change: F139L

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000048607
Gene: ENSMUSG00000038192
AA Change: F139L

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
CT 164 246 1.73e-28 SMART
Meta Mutation Damage Score 0.0784 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (40/40)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agfg2 A G 5: 137,682,798 (GRCm39) V15A unknown Het
Asb3 A G 11: 31,008,933 (GRCm39) D278G probably benign Het
Atrn T C 2: 130,815,424 (GRCm39) I780T probably benign Het
Car2 C T 3: 14,963,065 (GRCm39) P200L probably damaging Het
Cars1 A T 7: 143,118,786 (GRCm39) M668K probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Crhr2 T A 6: 55,109,838 (GRCm39) probably benign Het
Dnah7c G A 1: 46,572,091 (GRCm39) E855K probably benign Het
Espn C T 4: 152,220,106 (GRCm39) R339Q probably damaging Het
Flt3 T A 5: 147,293,163 (GRCm39) E481V probably benign Het
Gorab T G 1: 163,224,705 (GRCm39) K32T possibly damaging Het
Mak16 G A 8: 31,656,205 (GRCm39) Q93* probably null Het
Muc4 T C 16: 32,576,217 (GRCm39) probably benign Het
Neb A T 2: 52,083,249 (GRCm39) I5409N probably benign Het
Olfm4 C T 14: 80,258,664 (GRCm39) S304F probably benign Het
Pask A G 1: 93,248,224 (GRCm39) F1026L probably benign Het
Rab11a A G 9: 64,632,850 (GRCm39) S19P probably benign Het
Rab11fip3 T C 17: 26,255,631 (GRCm39) D541G probably damaging Het
Rnf10 T C 5: 115,398,210 (GRCm39) S108G probably damaging Het
Rps4l-ps C T 7: 114,526,403 (GRCm39) noncoding transcript Het
Shank1 A T 7: 44,004,014 (GRCm39) H1902L possibly damaging Het
Slc8a3 T C 12: 81,362,627 (GRCm39) Y64C probably damaging Het
Sorbs3 A C 14: 70,445,066 (GRCm39) I4S probably damaging Het
St18 A G 1: 6,925,647 (GRCm39) N935S probably damaging Het
Taf4b T C 18: 14,954,499 (GRCm39) V525A probably damaging Het
Timm10b A G 7: 105,332,013 (GRCm39) N828S probably benign Het
Ttyh1 A T 7: 4,122,763 (GRCm39) D4V probably damaging Het
Usp34 T A 11: 23,371,257 (GRCm39) L53Q possibly damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Vmn2r70 A T 7: 85,208,787 (GRCm39) N563K probably damaging Het
Xrcc5 C A 1: 72,351,659 (GRCm39) N76K probably damaging Het
Zscan25 T C 5: 145,220,268 (GRCm39) V21A probably damaging 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
R5816:Cer1 UTSW 4 82,801,120 (GRCm39) missense probably damaging 0.99
R6807:Cer1 UTSW 4 82,801,052 (GRCm39) missense probably benign 0.08
R7536:Cer1 UTSW 4 82,803,205 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- ACTGAATCTGGAACTAGACAAGGC -3'
(R):5'- GAAGATGCTGTCCAGGCTTG -3'

Sequencing Primer
(F):5'- TAGACAAGGCCCGAGCTCTC -3'
(R):5'- CTTGGAAGATTCTGGAAGAAACCTG -3'
Posted On 2015-08-18