Incidental Mutation 'R0973:Cd46'
ID 500368
Institutional Source Beutler Lab
Gene Symbol Cd46
Ensembl Gene ENSMUSG00000016493
Gene Name CD46 antigen, complement regulatory protein
Synonyms CD46, Mcp
MMRRC Submission 039102-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0973 (G1)
Quality Score 156
Status Not validated
Chromosome 1
Chromosomal Location 194719134-194774557 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 194724300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 366 (*366W)
Ref Sequence ENSEMBL: ENSMUSP00000123931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159563] [ENSMUST00000162650]
AlphaFold O88174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083614
Predicted Effect probably benign
Transcript: ENSMUST00000159563
SMART Domains Protein: ENSMUSP00000123901
Gene: ENSMUSG00000016493

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 null
Transcript: ENSMUST00000162650
AA Change: *366W
SMART Domains Protein: ENSMUSP00000123931
Gene: ENSMUSG00000016493
AA Change: *366W

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194487
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194584
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 93% (38/41)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik C T 1: 183,765,702 (GRCm39) S119N probably benign Het
4930503L19Rik T A 18: 70,600,997 (GRCm39) probably null Het
Adam18 T C 8: 25,137,869 (GRCm39) T324A probably benign Het
Adamts20 T A 15: 94,184,252 (GRCm39) Q1517L probably benign Het
AI429214 A G 8: 37,461,473 (GRCm39) Q207R probably benign Het
Arhgef7 A G 8: 11,869,659 (GRCm39) T432A possibly damaging Het
Atad2b A G 12: 5,081,784 (GRCm39) N1231S probably benign Het
Atp13a1 T C 8: 70,254,794 (GRCm39) probably null Het
Atp6v0a1 T A 11: 100,946,317 (GRCm39) L770* probably null Het
Atp8b3 T C 10: 80,370,032 (GRCm39) N127S probably damaging Het
B3gnt5 T A 16: 19,588,760 (GRCm39) D326E probably damaging Het
Birc6 T A 17: 74,872,856 (GRCm39) S372T probably damaging Het
Btbd9 T A 17: 30,518,607 (GRCm39) D451V probably damaging Het
Cdcp3 T C 7: 130,839,911 (GRCm39) L611P probably damaging Het
Cdh18 T A 15: 23,474,081 (GRCm39) D650E probably damaging Het
Cenpc1 A T 5: 86,185,767 (GRCm39) V248E probably damaging Het
Cep152 A G 2: 125,436,819 (GRCm39) S574P probably benign Het
Chd2 A G 7: 73,128,412 (GRCm39) S858P probably damaging Het
Cib4 T C 5: 30,645,938 (GRCm39) D110G probably damaging Het
Col9a2 T A 4: 120,896,985 (GRCm39) probably null Het
Csmd2 A T 4: 128,389,981 (GRCm39) I2239F possibly damaging Het
Csmd3 C A 15: 47,522,485 (GRCm39) G2728V probably damaging Het
Cxcl1 A T 5: 91,039,626 (GRCm39) K85* probably null Het
Cyp2d11 A G 15: 82,273,730 (GRCm39) L416P possibly damaging Het
Daam1 A C 12: 71,962,558 (GRCm39) K90T unknown Het
Depdc5 T A 5: 33,144,310 (GRCm39) M1435K possibly damaging Het
Dip2c G A 13: 9,626,944 (GRCm39) A632T probably damaging Het
Dld A T 12: 31,384,053 (GRCm39) I350N probably damaging Het
Dmtf1 T A 5: 9,177,987 (GRCm39) I391F possibly damaging Het
Dnah14 T C 1: 181,579,710 (GRCm39) V3081A probably damaging Het
Efemp1 A G 11: 28,804,538 (GRCm39) E22G probably damaging Het
Ephb6 A G 6: 41,591,038 (GRCm39) D65G probably damaging Het
Fsip2 A T 2: 82,807,436 (GRCm39) T1252S probably benign Het
Gm4847 A G 1: 166,457,824 (GRCm39) S510P probably benign Het
Golga4 T C 9: 118,366,341 (GRCm39) I365T probably damaging Het
Gp2 A T 7: 119,053,766 (GRCm39) L65Q probably damaging Het
Ibtk T C 9: 85,625,630 (GRCm39) Y40C probably damaging Het
Ice1 C A 13: 70,750,546 (GRCm39) V1847L probably benign Het
Ift172 C T 5: 31,422,699 (GRCm39) R917H probably benign Het
Itgae C T 11: 73,029,335 (GRCm39) Q1037* probably null Het
Kbtbd7 A G 14: 79,664,870 (GRCm39) E234G possibly damaging Het
Khsrp T C 17: 57,332,576 (GRCm39) T235A probably benign Het
Klk13 T C 7: 43,370,582 (GRCm39) probably null Het
Lrfn5 G A 12: 61,890,223 (GRCm39) G504D probably damaging Het
Macf1 A G 4: 123,369,793 (GRCm39) V91A possibly damaging Het
Map6 G A 7: 98,985,950 (GRCm39) G821D possibly damaging Het
Mark1 A C 1: 184,653,801 (GRCm39) V167G probably damaging Het
Mrgprf T A 7: 144,861,993 (GRCm39) L185Q probably damaging Het
Mtor T A 4: 148,634,645 (GRCm39) V2422D probably damaging Het
Myh13 T A 11: 67,223,346 (GRCm39) I222N probably damaging Het
Myh7b G A 2: 155,462,347 (GRCm39) C350Y probably benign Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Olfm3 C A 3: 114,895,635 (GRCm39) S172R probably benign Het
Or13e8 A G 4: 43,696,706 (GRCm39) S156P probably damaging Het
Or1j14 A G 2: 36,418,020 (GRCm39) I199V probably benign Het
Or4c1 A T 2: 89,133,528 (GRCm39) I136N probably damaging Het
Or5d40 A T 2: 88,015,322 (GRCm39) T34S probably benign Het
Or8b48 T A 9: 38,492,579 (GRCm39) V2D possibly damaging Het
Pacs1 A T 19: 5,193,857 (GRCm39) D557E probably damaging Het
Pde1c A G 6: 56,338,800 (GRCm39) F11L probably benign Het
Phactr2 T C 10: 13,122,883 (GRCm39) D343G possibly damaging Het
Piezo2 T C 18: 63,148,873 (GRCm39) Y2659C probably damaging Het
Pkd2l2 A G 18: 34,561,305 (GRCm39) T438A probably damaging Het
Pld2 T C 11: 70,447,907 (GRCm39) W857R probably damaging Het
Plxnb1 T C 9: 108,931,210 (GRCm39) V410A possibly damaging Het
Pramel26 T C 4: 143,538,428 (GRCm39) Y181C probably damaging Het
Ptger2 A G 14: 45,226,957 (GRCm39) Y179C probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rcan1 A T 16: 92,190,408 (GRCm39) M177K probably benign Het
Rilpl1 A G 5: 124,639,934 (GRCm39) S156P probably benign Het
Rilpl1 A G 5: 124,639,951 (GRCm39) I122T possibly damaging Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rpa1 C T 11: 75,203,799 (GRCm39) probably null Het
Saxo2 A G 7: 82,284,078 (GRCm39) V260A probably benign Het
Sel1l T C 12: 91,791,634 (GRCm39) Y309C probably damaging Het
Setd1b GCCCCCCC GCCCCCCCCCCCCC 5: 123,298,766 (GRCm39) probably benign Het
Slc33a1 A G 3: 63,850,725 (GRCm39) F533S probably benign Het
Slc38a4 C T 15: 96,903,739 (GRCm39) V421M probably benign Het
Snx14 A G 9: 88,282,774 (GRCm39) probably null Het
Spef2 A G 15: 9,716,482 (GRCm39) F368S probably damaging Het
Sri A T 5: 8,109,381 (GRCm39) Q55L probably damaging Het
Stat4 A G 1: 52,135,979 (GRCm39) I429M probably damaging Het
Stkld1 A T 2: 26,841,462 (GRCm39) Q469L probably benign Het
Tm9sf1 T C 14: 55,880,392 (GRCm39) T2A possibly damaging Het
Tmco5 A G 2: 116,713,699 (GRCm39) T122A probably benign Het
Tmem59l G A 8: 70,938,710 (GRCm39) P124S possibly damaging Het
Tmem81 G A 1: 132,435,662 (GRCm39) R156Q probably damaging Het
Trpv6 T A 6: 41,602,122 (GRCm39) T396S probably benign Het
Usp24 T A 4: 106,228,276 (GRCm39) Y780* probably null Het
Utp25 A T 1: 192,797,011 (GRCm39) N573K probably damaging Het
Vmn1r120 A G 7: 20,786,941 (GRCm39) C257R probably damaging Het
Vmn2r53 A G 7: 12,335,319 (GRCm39) F114L probably damaging Het
Vwf A G 6: 125,619,969 (GRCm39) E1549G probably damaging Het
Zfp626 G A 7: 27,517,907 (GRCm39) R296H 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
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
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 2017-12-01