Incidental Mutation 'R0269:Cd46'
ID 172369
Institutional Source Beutler Lab
Gene Symbol Cd46
Ensembl Gene ENSMUSG00000016493
Gene Name CD46 antigen, complement regulatory protein
Synonyms CD46, Mcp
MMRRC Submission 038495-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0269 (G1)
Quality Score 51
Status Validated
Chromosome 1
Chromosomal Location 194719134-194774557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 194746996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 339 (I339L)
Ref Sequence ENSEMBL: ENSMUSP00000123931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159563] [ENSMUST00000162650]
AlphaFold O88174
Predicted Effect probably benign
Transcript: ENSMUST00000159563
SMART Domains Protein: ENSMUSP00000123901
Gene: ENSMUSG00000016493

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
CCP 45 104 6.7e-3 SMART
CCP 109 168 3.87e-8 SMART
CCP 173 234 2.14e-10 SMART
CCP 239 294 1.06e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161772
Predicted Effect probably benign
Transcript: ENSMUST00000162650
AA Change: I339L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000123931
Gene: ENSMUSG00000016493
AA Change: I339L

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
CCP 45 104 6.7e-3 SMART
CCP 109 168 3.87e-8 SMART
CCP 173 234 2.14e-10 SMART
CCP 239 294 1.06e-14 SMART
transmembrane domain 328 350 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162951
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.8%
  • 10x: 96.1%
  • 20x: 93.6%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygous mutation of this gene results in increased litter sizes sired by mutant males. Another homozygous null mouse shows increased susceptibility to induced choroid neovascularization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C T 15: 84,838,201 (GRCm39) V231I possibly damaging Het
Abca1 T C 4: 53,044,228 (GRCm39) D1798G probably benign Het
Adcy2 T A 13: 68,826,725 (GRCm39) K660* probably null Het
Alk G T 17: 72,910,578 (GRCm39) P43T probably damaging Het
Amhr2 T C 15: 102,355,503 (GRCm39) C189R probably benign Het
Arrb1 T C 7: 99,243,884 (GRCm39) L278P probably damaging Het
AW551984 T C 9: 39,511,246 (GRCm39) Y153C probably damaging Het
Bpifb1 A G 2: 154,054,867 (GRCm39) D253G possibly damaging Het
Bpifb9b C T 2: 154,161,545 (GRCm39) T559M probably benign Het
Cdkn2aip A G 8: 48,165,012 (GRCm39) S234P probably damaging Het
Chil3 T C 3: 106,063,072 (GRCm39) K173E probably benign Het
Csf2rb2 G T 15: 78,173,065 (GRCm39) T265N probably benign Het
Cyp2c40 A G 19: 39,762,340 (GRCm39) F436L probably damaging Het
D130040H23Rik T C 8: 69,753,446 (GRCm39) F24S probably benign Het
Defb12 G T 8: 19,164,375 (GRCm39) A34E probably damaging Het
Fam234a A T 17: 26,435,591 (GRCm39) D264E probably benign Het
Fbxl17 A C 17: 63,691,987 (GRCm39) F42V probably damaging Het
Gldc T A 19: 30,096,002 (GRCm39) I670F probably damaging Het
Guf1 A C 5: 69,716,942 (GRCm39) Q168P probably damaging Het
Hcn2 A G 10: 79,570,075 (GRCm39) probably benign Het
Hddc2 A G 10: 31,203,942 (GRCm39) M190V probably benign Het
Kcnq2 T C 2: 180,738,767 (GRCm39) E294G probably benign Het
Kdelr1 T A 7: 45,523,463 (GRCm39) probably benign Het
Kidins220 T A 12: 25,090,511 (GRCm39) H1158Q probably damaging Het
Laptm5 A T 4: 130,658,127 (GRCm39) N185Y probably benign Het
Mgat4a A G 1: 37,529,388 (GRCm39) Y164H possibly damaging Het
Mlh3 C A 12: 85,315,179 (GRCm39) V336L probably benign Het
Myadm A G 7: 3,345,273 (GRCm39) T12A unknown Het
Nol8 T C 13: 49,807,921 (GRCm39) F46L possibly damaging Het
Ntrk1 T C 3: 87,691,240 (GRCm39) D308G possibly damaging Het
Oog3 A T 4: 143,886,784 (GRCm39) V112D probably benign Het
Or4a66 A G 2: 88,531,040 (GRCm39) V211A probably damaging Het
Or5af2 T C 11: 58,707,975 (GRCm39) V47A probably damaging Het
Or5m9b A G 2: 85,905,485 (GRCm39) M134V probably benign Het
Or8g34 T C 9: 39,373,090 (GRCm39) M118T probably damaging Het
Or9s18 A T 13: 65,300,692 (GRCm39) Y218F possibly damaging Het
Pramel14 A G 4: 143,720,088 (GRCm39) probably benign Het
Prss39 A T 1: 34,539,279 (GRCm39) H173L probably damaging Het
Rabl6 A G 2: 25,476,878 (GRCm39) probably null Het
Recql5 T C 11: 115,819,050 (GRCm39) D172G possibly damaging Het
Reln T C 5: 22,125,535 (GRCm39) D2716G probably damaging Het
Rgs7 A G 1: 175,098,386 (GRCm39) S58P possibly damaging Het
Sema6d T A 2: 124,502,665 (GRCm39) F583L possibly damaging Het
Sgsm1 T C 5: 113,434,795 (GRCm39) probably null Het
Slc22a19 A T 19: 7,686,986 (GRCm39) probably benign Het
Slc6a21 T A 7: 44,936,332 (GRCm39) Y428* probably null Het
Smarca4 T G 9: 21,547,497 (GRCm39) M260R probably benign Het
Smg6 C A 11: 75,053,757 (GRCm39) T1413K probably benign Het
Spata17 T C 1: 186,830,069 (GRCm39) I322V probably benign Het
Stxbp1 A C 2: 32,692,795 (GRCm39) I407S probably damaging Het
Sult1d1 A T 5: 87,712,661 (GRCm39) I61N probably damaging Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tm4sf5 T A 11: 70,401,495 (GRCm39) S165T probably damaging Het
Tmx2 T C 2: 84,502,740 (GRCm39) D256G probably benign Het
Trmt11 T A 10: 30,463,485 (GRCm39) H210L probably benign Het
Tut7 A T 13: 59,964,669 (GRCm39) probably null Het
Ush2a T A 1: 188,542,373 (GRCm39) M3313K probably benign Het
Zfp955b A T 17: 33,524,437 (GRCm39) S43R probably damaging Het
Other mutations in Cd46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02429:Cd46 APN 1 194,767,732 (GRCm39) missense probably benign 0.01
IGL03029:Cd46 APN 1 194,768,451 (GRCm39) missense probably benign 0.43
R0375:Cd46 UTSW 1 194,768,472 (GRCm39) missense probably benign 0.00
R0627:Cd46 UTSW 1 194,774,494 (GRCm39) missense probably benign 0.03
R0784:Cd46 UTSW 1 194,774,502 (GRCm39) missense possibly damaging 0.96
R0892:Cd46 UTSW 1 194,764,920 (GRCm39) missense possibly damaging 0.78
R0973:Cd46 UTSW 1 194,724,300 (GRCm39) makesense probably null
R0973:Cd46 UTSW 1 194,724,300 (GRCm39) makesense probably null
R0974:Cd46 UTSW 1 194,724,300 (GRCm39) makesense probably null
R1224:Cd46 UTSW 1 194,744,706 (GRCm39) missense possibly damaging 0.66
R1716:Cd46 UTSW 1 194,760,117 (GRCm39) missense probably benign 0.21
R1863:Cd46 UTSW 1 194,765,931 (GRCm39) missense probably damaging 1.00
R2000:Cd46 UTSW 1 194,760,012 (GRCm39) missense probably benign 0.00
R2152:Cd46 UTSW 1 194,744,721 (GRCm39) missense probably benign 0.42
R2153:Cd46 UTSW 1 194,744,721 (GRCm39) missense probably benign 0.42
R4452:Cd46 UTSW 1 194,767,668 (GRCm39) missense possibly damaging 0.84
R4860:Cd46 UTSW 1 194,744,704 (GRCm39) missense possibly damaging 0.94
R4860:Cd46 UTSW 1 194,744,704 (GRCm39) missense possibly damaging 0.94
R4934:Cd46 UTSW 1 194,765,107 (GRCm39) intron probably benign
R5156:Cd46 UTSW 1 194,767,693 (GRCm39) missense possibly damaging 0.90
R5287:Cd46 UTSW 1 194,744,719 (GRCm39) missense possibly damaging 0.65
R5303:Cd46 UTSW 1 194,744,707 (GRCm39) missense probably benign
R5403:Cd46 UTSW 1 194,744,719 (GRCm39) missense possibly damaging 0.65
R5487:Cd46 UTSW 1 194,750,478 (GRCm39) critical splice acceptor site probably null
R5505:Cd46 UTSW 1 194,767,688 (GRCm39) missense possibly damaging 0.88
R5538:Cd46 UTSW 1 194,750,478 (GRCm39) critical splice acceptor site probably null
R6721:Cd46 UTSW 1 194,765,939 (GRCm39) missense probably damaging 1.00
R6731:Cd46 UTSW 1 194,765,775 (GRCm39) splice site probably null
R7226:Cd46 UTSW 1 194,724,314 (GRCm39) missense possibly damaging 0.84
R7633:Cd46 UTSW 1 194,765,927 (GRCm39) missense probably null 0.01
R8277:Cd46 UTSW 1 194,747,030 (GRCm39) missense probably damaging 0.96
R8672:Cd46 UTSW 1 194,764,949 (GRCm39) missense probably benign 0.09
R9153:Cd46 UTSW 1 194,774,479 (GRCm39) missense possibly damaging 0.88
R9435:Cd46 UTSW 1 194,767,720 (GRCm39) missense probably damaging 0.99
R9455:Cd46 UTSW 1 194,744,704 (GRCm39) missense possibly damaging 0.94
Predicted Primers
Posted On 2014-04-15