Incidental Mutation 'R4326:Cd55'
ID 324347
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 041096-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4326 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 130366764-130390481 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130380220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 253 (C253S)
Ref Sequence ENSEMBL: ENSMUSP00000027650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027650]
AlphaFold Q61475
Predicted Effect probably damaging
Transcript: ENSMUST00000027650
AA Change: C253S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027650
Gene: ENSMUSG00000026399
AA Change: C253S

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: ENSMUST00000122830
Predicted Effect probably benign
Transcript: ENSMUST00000140400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140725
Meta Mutation Damage Score 0.9609 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (57/58)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 A G 3: 121,555,119 (GRCm39) V616A probably benign Het
Abhd17a A G 10: 80,419,884 (GRCm39) S241P probably benign Het
Adamts15 T C 9: 30,815,814 (GRCm39) S681G probably benign Het
Arap2 A T 5: 62,779,206 (GRCm39) H1461Q possibly damaging Het
Armc3 A G 2: 19,305,284 (GRCm39) K681E probably damaging Het
Arrdc5 T C 17: 56,601,420 (GRCm39) E235G possibly damaging Het
Atxn1 T C 13: 46,119,443 (GRCm39) probably benign Het
C9orf72 T A 4: 35,225,985 (GRCm39) probably benign Het
Capn13 C A 17: 73,638,103 (GRCm39) K433N probably benign Het
Ccdc113 G A 8: 96,283,896 (GRCm39) M323I probably benign Het
Cyp2j8 T A 4: 96,395,566 (GRCm39) T20S probably benign Het
Dnah8 G A 17: 30,971,066 (GRCm39) V2707M probably benign Het
Erlec1 C T 11: 30,899,972 (GRCm39) E166K probably benign Het
Fastkd2 A G 1: 63,791,516 (GRCm39) K675E probably benign Het
Gid4 G A 11: 60,308,662 (GRCm39) V61M possibly damaging Het
Glt28d2 G A 3: 85,779,393 (GRCm39) Q27* probably null Het
Ipo8 A T 6: 148,701,662 (GRCm39) probably benign Het
Isx A G 8: 75,600,284 (GRCm39) I6V probably benign Het
Itsn1 A G 16: 91,650,743 (GRCm39) probably benign Het
Klhl40 A G 9: 121,607,956 (GRCm39) D372G probably benign Het
Krt80 C T 15: 101,250,189 (GRCm39) V19M possibly damaging Het
Lingo2 T A 4: 35,708,462 (GRCm39) D506V probably damaging Het
Lmo7 A T 14: 102,137,510 (GRCm39) E504D possibly damaging Het
Lpcat4 G A 2: 112,076,737 (GRCm39) E454K probably benign Het
Macf1 C T 4: 123,276,005 (GRCm39) A4176T probably damaging Het
Noxo1 G A 17: 24,917,937 (GRCm39) R81H probably benign Het
Or10ab4 T C 7: 107,654,362 (GRCm39) Y58H probably damaging Het
Or7g34 T A 9: 19,478,318 (GRCm39) M121L possibly damaging Het
Pafah1b1 T C 11: 74,573,066 (GRCm39) T333A probably benign Het
Pak1ip1 A G 13: 41,158,232 (GRCm39) D35G possibly damaging Het
Pak3 T C X: 142,516,205 (GRCm39) probably null Het
Pcdhb9 A T 18: 37,534,875 (GRCm39) S290C probably benign Het
Pcdhb9 G T 18: 37,534,876 (GRCm39) S290I probably benign Het
Ppp2r2d T A 7: 138,470,214 (GRCm39) V25D probably damaging Het
Prdm15 G T 16: 97,607,715 (GRCm39) N709K probably damaging Het
Ptprs C A 17: 56,754,468 (GRCm39) A191S possibly damaging Het
Rrs1 G T 1: 9,616,566 (GRCm39) R273L possibly damaging Het
Sin3a T C 9: 57,002,642 (GRCm39) L178P probably damaging Het
Slc13a1 A G 6: 24,103,478 (GRCm39) V355A probably benign Het
Spen T G 4: 141,204,683 (GRCm39) N1315H unknown Het
Ssrp1 A G 2: 84,870,561 (GRCm39) probably benign Het
St7 G A 6: 17,819,287 (GRCm39) V64M probably damaging Het
Syne2 C A 12: 75,999,516 (GRCm39) A2304E probably damaging Het
Tcf25 T A 8: 124,127,882 (GRCm39) L622* probably null Het
Tmem107 G T 11: 68,962,301 (GRCm39) probably null Het
Tmem62 T A 2: 120,810,991 (GRCm39) N156K probably damaging Het
Wdr90 G T 17: 26,072,705 (GRCm39) R884S probably benign Het
Zfp184 T C 13: 22,144,072 (GRCm39) Y593H probably damaging Het
Zfp934 T G 13: 62,665,373 (GRCm39) N312H probably benign Het
Zfta A G 19: 7,398,591 (GRCm39) probably benign 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
R0411:Cd55 UTSW 1 130,390,294 (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
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'- AGTTGGTCTCAGAGAGTACATGG -3'
(R):5'- AATGGAGACCTGTGCCACAC -3'

Sequencing Primer
(F):5'- CCTCCTGAGTACTGGGATTAAAGGC -3'
(R):5'- CCACTGTAATAGGCACTGTCAGTATC -3'
Posted On 2015-06-24