Incidental Mutation 'R8672:Cd46'
ID 661188
Institutional Source Beutler Lab
Gene Symbol Cd46
Ensembl Gene ENSMUSG00000016493
Gene Name CD46 antigen, complement regulatory protein
Synonyms CD46, Mcp
MMRRC Submission 068527-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8672 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 194719134-194774557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 194764949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 216 (T216I)
Ref Sequence ENSEMBL: ENSMUSP00000123931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159563] [ENSMUST00000162650]
AlphaFold O88174
Predicted Effect probably benign
Transcript: ENSMUST00000159563
AA Change: T216I

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000123901
Gene: ENSMUSG00000016493
AA Change: T216I

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 probably benign
Transcript: ENSMUST00000162650
AA Change: T216I

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000123931
Gene: ENSMUSG00000016493
AA Change: T216I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.3%
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G T 17: 48,400,849 (GRCm39) E45* probably null Het
Aadat A T 8: 60,959,179 (GRCm39) probably benign Het
Amigo3 A G 9: 107,931,375 (GRCm39) H266R possibly damaging Het
Amy2a1 A T 3: 113,323,146 (GRCm39) M214K probably damaging Het
Atp11b A T 3: 35,874,066 (GRCm39) D685V probably benign Het
Aunip T A 4: 134,250,460 (GRCm39) M135K probably benign Het
Brd10 T C 19: 29,731,564 (GRCm39) T483A probably benign Het
Card9 T C 2: 26,247,950 (GRCm39) T134A probably benign Het
Chit1 T C 1: 134,079,005 (GRCm39) V360A unknown Het
Crcp A G 5: 130,071,077 (GRCm39) R59G probably benign Het
Csmd1 T A 8: 15,976,598 (GRCm39) E2873D probably benign Het
Cyp8b1 T A 9: 121,743,986 (GRCm39) M449L probably benign Het
Dpp7 T C 2: 25,246,133 (GRCm39) D40G probably benign Het
Eif4g3 T A 4: 137,853,823 (GRCm39) L463Q possibly damaging Het
Fzd9 T C 5: 135,278,524 (GRCm39) I454V probably benign Het
Gbp11 T A 5: 105,491,675 (GRCm39) I41F probably damaging Het
Gkap1 G A 13: 58,391,662 (GRCm39) T231I probably damaging Het
Heatr5b A G 17: 79,069,632 (GRCm39) L1705P probably damaging Het
Herc3 T A 6: 58,850,786 (GRCm39) F467I probably damaging Het
Ifih1 T C 2: 62,435,993 (GRCm39) E699G possibly damaging Het
Ints5 T A 19: 8,873,370 (GRCm39) L443Q probably damaging Het
Itpr2 A T 6: 146,276,016 (GRCm39) C764S probably damaging Het
Kcnma1 A T 14: 23,551,230 (GRCm39) I519N probably damaging Het
Krtap4-1 C T 11: 99,518,890 (GRCm39) C40Y unknown Het
Mdn1 A G 4: 32,768,793 (GRCm39) D5384G probably damaging Het
Mpl T C 4: 118,306,110 (GRCm39) Y310C probably damaging Het
Mucl1 A G 15: 103,784,063 (GRCm39) S48P possibly damaging Het
Musk T G 4: 58,286,051 (GRCm39) probably benign Het
Nemp1 T C 10: 127,512,988 (GRCm39) S8P probably benign Het
Nisch A G 14: 30,895,093 (GRCm39) C1068R probably damaging Het
Npr3 T C 15: 11,851,579 (GRCm39) N404D probably damaging Het
Nwd1 C G 8: 73,394,007 (GRCm39) H423Q probably damaging Het
Or5a1 C T 19: 12,097,921 (GRCm39) V52M probably benign Het
Or6c66b T A 10: 129,376,596 (GRCm39) N63K probably damaging Het
Or8j3c T A 2: 86,253,976 (GRCm39) M15L probably benign Het
Pcdh9 T C 14: 94,124,529 (GRCm39) N547S probably benign Het
Pdha2 C A 3: 140,917,124 (GRCm39) R128L probably damaging Het
Pebp1 A G 5: 117,421,336 (GRCm39) Y181H probably benign Het
Peg3 T G 7: 6,711,523 (GRCm39) D1233A possibly damaging Het
Pepd C A 7: 34,642,107 (GRCm39) T146N probably damaging Het
Ptk2b A T 14: 66,393,841 (GRCm39) D877E probably benign Het
Rabgap1l A C 1: 160,270,846 (GRCm39) M647R probably damaging Het
Rp1 A G 1: 4,419,007 (GRCm39) S702P possibly damaging Het
Shb A T 4: 45,489,161 (GRCm39) D238E probably damaging Het
Slc36a1 T A 11: 55,123,334 (GRCm39) V433D possibly damaging Het
Spata31h1 A T 10: 82,127,726 (GRCm39) N1761K probably benign Het
Spen C T 4: 141,197,681 (GRCm39) A3396T probably benign Het
Tcerg1 A T 18: 42,686,559 (GRCm39) K705N probably damaging Het
Thbs1 C A 2: 117,943,719 (GRCm39) N112K probably benign Het
Zfp658 T C 7: 43,222,919 (GRCm39) I398T possibly 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
R0269:Cd46 UTSW 1 194,746,996 (GRCm39) missense probably benign 0.00
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
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 PCR Primer
(F):5'- GGGTAGTAGCTCACATACCAGG -3'
(R):5'- TGTCCTAAAAGGTCATTTCTTAGGGG -3'

Sequencing Primer
(F):5'- TAGTAGCTCACATACCAGGAAATG -3'
(R):5'- AAGGTCATTTCTTAGGGGTTTAAAC -3'
Posted On 2021-03-08