Incidental Mutation 'R4328:Cd55'
ID 324449
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 041098-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4328 (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: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (56/57)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300009A05Rik T C 9: 63,306,238 (GRCm39) K89R probably damaging Het
Aadacl4fm2 T A 4: 144,282,164 (GRCm39) K209N possibly damaging Het
Alcam T C 16: 52,073,579 (GRCm39) N549S possibly damaging Het
Arap2 A T 5: 62,779,206 (GRCm39) H1461Q possibly damaging Het
Bin3 A G 14: 70,356,054 (GRCm39) I4V probably benign Het
Brd10 G T 19: 29,720,961 (GRCm39) T688K probably benign Het
C9orf72 T A 4: 35,225,985 (GRCm39) probably benign Het
Col12a1 T A 9: 79,607,671 (GRCm39) T386S possibly damaging Het
Col13a1 T C 10: 61,699,758 (GRCm39) T476A unknown Het
Crym C T 7: 119,794,562 (GRCm39) G219E probably damaging Het
Cwf19l2 A T 9: 3,458,878 (GRCm39) I776F probably damaging Het
Eif1ad16 T A 12: 87,985,285 (GRCm39) D86V possibly damaging Het
Erlec1 C T 11: 30,899,972 (GRCm39) E166K probably benign Het
Gm3336 C T 8: 71,173,234 (GRCm39) T82I probably benign Het
Gm3604 A T 13: 62,517,079 (GRCm39) S425R possibly damaging Het
Gpn2 T C 4: 133,315,919 (GRCm39) V203A probably benign Het
Gskip T C 12: 105,666,960 (GRCm39) Y113H probably damaging Het
Hcn2 T C 10: 79,560,445 (GRCm39) Y259H probably damaging Het
Hira C A 16: 18,715,362 (GRCm39) Q87K probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kirrel1 T C 3: 86,992,081 (GRCm39) probably benign Het
Klhl40 A G 9: 121,607,956 (GRCm39) D372G probably benign Het
Lingo2 T A 4: 35,708,462 (GRCm39) D506V probably damaging Het
Ly6e C A 15: 74,830,370 (GRCm39) N73K probably damaging Het
Med12l T C 3: 59,172,688 (GRCm39) S1813P probably benign Het
Med24 A G 11: 98,597,942 (GRCm39) probably null Het
Niban1 T C 1: 151,512,169 (GRCm39) S24P possibly damaging Het
Nup210l C A 3: 90,083,142 (GRCm39) probably null Het
Or2t1 T A 14: 14,328,193 (GRCm38) F27L probably damaging Het
Or5w12 C A 2: 87,502,008 (GRCm39) R234S possibly damaging Het
Or7g34 T A 9: 19,478,318 (GRCm39) M121L possibly damaging Het
Or8d1 T C 9: 38,767,132 (GRCm39) M258T possibly damaging Het
Pafah1b1 T C 11: 74,573,066 (GRCm39) T333A probably benign Het
Pak3 T C X: 142,516,205 (GRCm39) probably null Het
Palm G A 10: 79,643,520 (GRCm39) G83S probably benign Het
Pax8 A G 2: 24,331,663 (GRCm39) F140S possibly damaging Het
Ppargc1b A T 18: 61,515,540 (GRCm39) C34* probably null Het
Ppp3cb A T 14: 20,581,016 (GRCm39) I136K probably damaging Het
Prep T C 10: 44,996,745 (GRCm39) V341A probably benign Het
Prickle4 C A 17: 47,999,543 (GRCm39) G337C probably damaging Het
Rabgap1 T A 2: 37,422,627 (GRCm39) Y627N probably damaging Het
Ryr1 T C 7: 28,782,484 (GRCm39) Y1953C probably damaging Het
Snrnp200 T A 2: 127,064,137 (GRCm39) V708D probably damaging Het
Tent5b C T 4: 133,213,914 (GRCm39) Q262* 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
Ttyh1 A T 7: 4,133,580 (GRCm39) D295V probably damaging Het
Twsg1 T C 17: 66,255,733 (GRCm39) T14A probably benign Het
Zfp184 T C 13: 22,144,072 (GRCm39) Y593H probably damaging Het
Zfp239 T C 6: 117,848,745 (GRCm39) L161P probably damaging Het
Zpbp2 A G 11: 98,448,432 (GRCm39) T199A 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 1 130,377,160 (GRCm39) missense probably benign 0.32
R1785:Cd55 UTSW 1 130,387,370 (GRCm39) missense probably benign
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 1 130,375,104 (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'- TGGTCTCAGAGAGTACATGGTG -3'
(R):5'- GCTGAGCTCAGAAAGATGATTG -3'

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