Incidental Mutation 'R0411:Cd55'
ID 177845
Institutional Source Beutler Lab
Gene Symbol Cd55
Ensembl Gene ENSMUSG00000026399
Gene Name CD55 molecule, decay accelerating factor for complement
Synonyms Daf-GPI, GPI-DAF, Cromer blood group, Daf1, complement-glycosylphosphatidylinositol
MMRRC Submission 038613-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0411 (G1)
Quality Score 59
Status Validated
Chromosome 1
Chromosomal Location 130366764-130390481 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 130390294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027650]
AlphaFold Q61475
Predicted Effect probably benign
Transcript: ENSMUST00000027650
SMART Domains Protein: ENSMUSP00000027650
Gene: ENSMUSG00000026399

DomainStartEndE-ValueType
low complexity region 11 30 N/A INTRINSIC
CCP 36 94 2.21e-12 SMART
CCP 98 158 3.56e-7 SMART
CCP 163 220 6.34e-13 SMART
CCP 225 284 1.28e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125681
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140725
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 97% (66/68)
MGI Phenotype FUNCTION: This gene encodes an inhibitor of both the classical and the alternative pathways of complement activation. The encoded preproprotein undergoes post-translational processing to generate a mature polypeptide anchored to the plasma membrane via a glycosylphosphatidylinositol moiety. Erythrocytes from mice deficient in the encoded protein exhibit impaired regulation of complement activation resulting in enhanced complement deposition. Mice lacking the encoded protein exhibit enhanced susceptibility to experimentally induced myasthenia gravis. This gene is located adjacent to a closely related gene on chromosome 1. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous mutant mice show increased susceptibility to injury following ethanol exposure, to experimental autoimmune myasthenia gravis and to acute nephrotoxic nephritis. Another allele results in an abnormal complement cascade leading to increased C3 deposition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,053,834 (GRCm39) probably benign Het
6030469F06Rik A T 12: 31,234,730 (GRCm39) noncoding transcript Het
Acad11 T C 9: 103,993,495 (GRCm39) F541L probably damaging Het
Acin1 G T 14: 54,884,231 (GRCm39) R92S probably damaging Het
Appl1 A G 14: 26,662,213 (GRCm39) S490P probably benign Het
Aqp9 C A 9: 71,037,726 (GRCm39) V184L probably benign Het
Arih1 A T 9: 59,393,266 (GRCm39) I122N possibly damaging Het
Bmi1 T C 2: 18,687,983 (GRCm39) probably benign Het
Bmpr1a G A 14: 34,137,834 (GRCm39) T391I possibly damaging Het
Cacna1s A G 1: 136,041,041 (GRCm39) K1256E probably damaging Het
Cacng3 C T 7: 122,367,795 (GRCm39) P225L probably damaging Het
Cd101 A T 3: 100,925,843 (GRCm39) probably null Het
Cenpe T C 3: 134,928,016 (GRCm39) I258T probably damaging Het
Cfap251 C T 5: 123,428,117 (GRCm39) T538M probably damaging Het
Cma2 A G 14: 56,211,135 (GRCm39) probably benign Het
Ddost T A 4: 138,036,964 (GRCm39) S176T probably benign Het
Ddx19b A T 8: 111,750,596 (GRCm39) probably null Het
Dmxl2 A G 9: 54,286,223 (GRCm39) I2681T probably damaging Het
Ern1 C T 11: 106,289,412 (GRCm39) E964K probably benign Het
Exoc1l G T 5: 76,648,334 (GRCm39) V47L possibly damaging Het
Galntl5 C T 5: 25,425,172 (GRCm39) R430C probably benign Het
Gga3 A G 11: 115,478,259 (GRCm39) L511P probably damaging Het
Gria2 C T 3: 80,618,165 (GRCm39) probably benign Het
Hmbs A T 9: 44,252,949 (GRCm39) L28* probably null Het
Iffo2 A G 4: 139,330,532 (GRCm39) E220G probably damaging Het
Ifi30 A G 8: 71,217,562 (GRCm39) probably benign Het
Irf2 T A 8: 47,299,096 (GRCm39) C297S probably benign Het
Izumo4 T C 10: 80,538,918 (GRCm39) Y94H probably damaging Het
Klhdc9 A G 1: 171,187,353 (GRCm39) V215A probably benign Het
Kmt2a T C 9: 44,731,261 (GRCm39) probably benign Het
Kmt2c A T 5: 25,580,955 (GRCm39) C513S probably damaging Het
Lyg1 A T 1: 37,988,977 (GRCm39) M81K possibly damaging Het
Maip1 T G 1: 57,454,852 (GRCm39) W279G probably damaging Het
Myo7a T C 7: 97,721,144 (GRCm39) T1263A probably benign Het
Naa15 T A 3: 51,373,060 (GRCm39) I701N possibly damaging Het
Ncoa3 A G 2: 165,910,463 (GRCm39) N1292S probably benign Het
Necab2 T A 8: 120,180,979 (GRCm39) probably benign Het
Nfatc1 T A 18: 80,741,257 (GRCm39) I234F possibly damaging Het
Olfm1 G A 2: 28,098,223 (GRCm39) R95K possibly damaging Het
Or10ag56 A G 2: 87,139,402 (GRCm39) T90A probably benign Het
Or10ak8 A T 4: 118,773,823 (GRCm39) N280K possibly damaging Het
Otoa T C 7: 120,755,750 (GRCm39) probably null Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Pard6g A G 18: 80,160,337 (GRCm39) D150G probably damaging Het
Pax5 A G 4: 44,609,783 (GRCm39) L215S probably damaging Het
Pja2 A T 17: 64,594,516 (GRCm39) probably benign Het
Plk4 T A 3: 40,765,654 (GRCm39) probably benign Het
Polr1a A T 6: 71,955,405 (GRCm39) H1687L possibly damaging Het
Ptcd2 G A 13: 99,479,899 (GRCm39) L41F probably damaging Het
Ropn1 T A 16: 34,490,334 (GRCm39) S62T probably benign Het
Setd1a T C 7: 127,395,223 (GRCm39) probably benign Het
Setdb1 T C 3: 95,234,997 (GRCm39) D902G probably damaging Het
Sik3 T A 9: 46,120,068 (GRCm39) L719Q probably damaging Het
Slc36a1 G T 11: 55,123,333 (GRCm39) V433F probably benign Het
Slc6a3 T C 13: 73,705,169 (GRCm39) V220A possibly damaging Het
Slc6a5 A T 7: 49,561,539 (GRCm39) R24W probably damaging Het
Smox G T 2: 131,362,564 (GRCm39) R281L probably benign Het
Sulf2 G T 2: 165,935,436 (GRCm39) H226N probably damaging Het
Syne2 C T 12: 76,106,358 (GRCm39) probably null Het
Tenm3 C T 8: 48,740,826 (GRCm39) S1210N possibly damaging Het
Tns1 A T 1: 73,964,920 (GRCm39) V1237E probably damaging Het
Trf C T 9: 103,094,700 (GRCm39) V92M probably damaging Het
Ttn A G 2: 76,539,717 (GRCm39) V34423A possibly damaging Het
Vmn2r118 A G 17: 55,918,021 (GRCm39) probably benign Het
Vmn2r19 A G 6: 123,286,703 (GRCm39) Y112C probably damaging Het
Zfp326 G T 5: 106,026,641 (GRCm39) A15S possibly damaging Het
Other mutations in Cd55
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Cd55 APN 1 130,380,248 (GRCm39) nonsense probably null
IGL02207:Cd55 APN 1 130,380,156 (GRCm39) missense possibly damaging 0.46
IGL02724:Cd55 APN 1 130,377,149 (GRCm39) splice site probably benign
IGL02933:Cd55 APN 1 130,380,261 (GRCm39) missense probably damaging 1.00
IGL02955:Cd55 APN 1 130,377,219 (GRCm39) missense probably damaging 0.98
IGL03198:Cd55 APN 1 130,368,108 (GRCm39) missense probably benign 0.03
PIT4618001:Cd55 UTSW 1 130,384,606 (GRCm39) missense probably benign
R0055:Cd55 UTSW 1 130,387,313 (GRCm39) splice site probably benign
R0426:Cd55 UTSW 1 130,376,109 (GRCm39) missense probably benign 0.07
R1488:Cd55 UTSW 1 130,376,115 (GRCm39) missense probably damaging 0.98
R1728:Cd55 UTSW 1 130,387,370 (GRCm39) missense probably benign
R1728:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R1729:Cd55 UTSW 1 130,387,370 (GRCm39) missense probably benign
R1729:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R1730:Cd55 UTSW 1 130,387,370 (GRCm39) missense probably benign
R1730:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R1739:Cd55 UTSW 1 130,387,370 (GRCm39) missense probably benign
R1739:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R1762:Cd55 UTSW 1 130,387,370 (GRCm39) missense probably benign
R1762:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R1783:Cd55 UTSW 1 130,387,370 (GRCm39) missense probably benign
R1783:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R1784:Cd55 UTSW 1 130,387,370 (GRCm39) missense probably benign
R1784:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R1785:Cd55 UTSW 1 130,387,370 (GRCm39) missense probably benign
R1785:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R1835:Cd55 UTSW 1 130,375,346 (GRCm39) splice site probably benign
R2049:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R2122:Cd55 UTSW 1 130,387,354 (GRCm39) missense possibly damaging 0.94
R2141:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R2142:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R2935:Cd55 UTSW 1 130,380,163 (GRCm39) missense possibly damaging 0.65
R4326:Cd55 UTSW 1 130,380,220 (GRCm39) missense probably damaging 1.00
R4328:Cd55 UTSW 1 130,380,220 (GRCm39) missense probably damaging 1.00
R4328:Cd55 UTSW 1 130,375,104 (GRCm39) intron probably benign
R4329:Cd55 UTSW 1 130,380,220 (GRCm39) missense probably damaging 1.00
R5051:Cd55 UTSW 1 130,376,085 (GRCm39) missense probably damaging 0.99
R6467:Cd55 UTSW 1 130,375,348 (GRCm39) splice site probably benign
R7219:Cd55 UTSW 1 130,390,343 (GRCm39) missense possibly damaging 0.73
R8010:Cd55 UTSW 1 130,387,353 (GRCm39) missense probably benign 0.00
R8695:Cd55 UTSW 1 130,380,273 (GRCm39) missense probably benign 0.00
R8882:Cd55 UTSW 1 130,387,501 (GRCm39) missense probably benign 0.02
R9369:Cd55 UTSW 1 130,375,187 (GRCm39) nonsense probably null
R9411:Cd55 UTSW 1 130,368,114 (GRCm39) missense probably benign 0.03
Z1088:Cd55 UTSW 1 130,380,216 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCTCAGGAACTTGGAATGCTTGGAC -3'
(R):5'- TGCTCAATTAACTGCGGCTCAAAAC -3'

Sequencing Primer
(F):5'- AATGCTTGGACTCTCGTGAAC -3'
(R):5'- TGCGGCTCAAAACAGCTC -3'
Posted On 2014-04-29