Incidental Mutation 'R5546:C3'
ID 436319
Institutional Source Beutler Lab
Gene Symbol C3
Ensembl Gene ENSMUSG00000024164
Gene Name complement component 3
Synonyms Plp, acylation stimulating protein, complement factor 3
MMRRC Submission 043104-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5546 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 57510970-57535136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57529976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 500 (L500P)
Ref Sequence ENSEMBL: ENSMUSP00000024988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024988] [ENSMUST00000177425]
AlphaFold P01027
Predicted Effect probably damaging
Transcript: ENSMUST00000024988
AA Change: L500P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000024988
Gene: ENSMUSG00000024164
AA Change: L500P

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
Pfam:A2M_N 130 225 3.8e-17 PFAM
A2M_N_2 456 604 5.22e-38 SMART
ANATO 693 728 5.69e-15 SMART
low complexity region 752 762 N/A INTRINSIC
A2M 770 866 5.47e-32 SMART
Pfam:Thiol-ester_cl 1000 1028 4.6e-15 PFAM
Pfam:A2M_comp 1051 1284 7.3e-60 PFAM
A2M_recep 1398 1493 3.98e-43 SMART
C345C 1533 1645 1.85e-48 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176457
Predicted Effect probably benign
Transcript: ENSMUST00000177046
Predicted Effect probably benign
Transcript: ENSMUST00000177425
SMART Domains Protein: ENSMUSP00000135663
Gene: ENSMUSG00000024164

DomainStartEndE-ValueType
Pfam:A2M_N_2 1 55 1.6e-10 PFAM
PDB:3L5N|B 74 102 1e-9 PDB
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes complement protein C3 which plays a central role in the classical, alternative and lectin activation pathways of the complement system. The encoded preproprotein undergoes a multi-step processing to generate various functional peptides. Mice deficient in the encoded protein fail to clear bacteria from the blood stream upon infection, display diminished airway hyperresponsiveness and lung eosinophilia upon allergen-induced pulmonary allergy, and develop severe lung injury after deposition of IgG immune complexes. Deficiency of the homolog of the encoded protein in humans was found to be associated with increased susceptibility to infections, age-related macular degeneration, and atypical hemolytic uremic syndrome. [provided by RefSeq, Mar 2015]
PHENOTYPE: Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 A G 9: 107,806,832 (GRCm39) N385S probably benign Het
Ahctf1 A T 1: 179,581,633 (GRCm39) I1523N probably benign Het
Akna C T 4: 63,313,196 (GRCm39) G309E probably benign Het
Akna T C 4: 63,313,803 (GRCm39) N107D probably benign Het
Arhgef15 G A 11: 68,844,877 (GRCm39) P240L probably benign Het
Brd1 T A 15: 88,585,325 (GRCm39) E836D probably benign Het
Brf2 A G 8: 27,614,311 (GRCm39) S292P possibly damaging Het
Cblif T C 19: 11,725,859 (GRCm39) S50P possibly damaging Het
Ccdc107 T C 4: 43,495,685 (GRCm39) L196P probably damaging Het
Cdcp1 G T 9: 123,007,094 (GRCm39) P551Q probably damaging Het
Ckap5 T C 2: 91,425,161 (GRCm39) L1224P probably damaging Het
Csnk1g2 C A 10: 80,474,232 (GRCm39) T178K probably benign Het
Ctsq A T 13: 61,185,702 (GRCm39) C146* probably null Het
Cyp2ab1 T A 16: 20,132,507 (GRCm39) I264F probably damaging Het
Daxx TGATGATGACGATGATGACGATGATGA TGATGATGACGATGATGA 17: 34,131,615 (GRCm39) probably benign Het
Dnah11 G A 12: 117,939,583 (GRCm39) T3179M possibly damaging Het
Dnah7c A T 1: 46,705,477 (GRCm39) T2497S probably damaging Het
Eif4enif1 T C 11: 3,193,989 (GRCm39) V776A probably damaging Het
Erbb4 G T 1: 68,337,452 (GRCm39) T622N probably damaging Het
Erich6 A G 3: 58,526,218 (GRCm39) Y595H probably benign Het
Fam107a C T 14: 8,298,764 (GRCm38) A121T probably benign Het
Gpatch11 C T 17: 79,149,548 (GRCm39) Q183* probably null Het
Gpr161 C A 1: 165,133,982 (GRCm39) F81L possibly damaging Het
Hook1 G T 4: 95,890,765 (GRCm39) E291D probably benign Het
Hsf2bp T A 17: 32,165,669 (GRCm39) I309F probably damaging Het
Hspg2 T C 4: 137,275,485 (GRCm39) probably null Het
Ide T G 19: 37,249,623 (GRCm39) M910L unknown Het
Igdcc4 A G 9: 65,036,077 (GRCm39) Y712C probably damaging Het
Kmt2d T C 15: 98,750,949 (GRCm39) probably benign Het
Lats1 T C 10: 7,581,518 (GRCm39) Y768H probably damaging Het
Mageb3 A G 2: 121,784,868 (GRCm39) V278A probably damaging Het
Mapkbp1 G A 2: 119,849,724 (GRCm39) R732H probably damaging Het
Marveld2 T C 13: 100,737,446 (GRCm39) I148V probably benign Het
Mast1 G C 8: 85,642,889 (GRCm39) P969A probably damaging Het
Myh10 T G 11: 68,689,206 (GRCm39) V1261G possibly damaging Het
Nlrp1b A T 11: 71,108,102 (GRCm39) H466Q probably benign Het
Npr2 T G 4: 43,650,150 (GRCm39) V905G probably damaging Het
Oip5 T A 2: 119,440,808 (GRCm39) I240F unknown Het
Or4c12 A G 2: 89,773,929 (GRCm39) C177R probably damaging Het
Or5k8 G T 16: 58,644,516 (GRCm39) Y185* probably null Het
Or8b12 T A 9: 37,657,820 (GRCm39) M130K probably benign Het
Pcsk2 G A 2: 143,388,480 (GRCm39) A24T probably benign Het
Plxnb1 G T 9: 108,929,818 (GRCm39) G225W probably damaging Het
Polr1a T C 6: 71,906,350 (GRCm39) S389P possibly damaging Het
Prkca A G 11: 107,944,806 (GRCm39) V175A probably benign Het
Rassf7 C A 7: 140,796,973 (GRCm39) probably null Het
Rbl2 A G 8: 91,805,560 (GRCm39) I206V probably benign Het
Rnf111 A T 9: 70,366,378 (GRCm39) H353Q probably benign Het
Rpn1 T G 6: 88,070,841 (GRCm39) V237G probably damaging Het
Sec61a2 T A 2: 5,881,351 (GRCm39) I267F possibly damaging Het
Spop G T 11: 95,376,669 (GRCm39) V241F probably damaging Het
Sptbn2 C T 19: 4,775,978 (GRCm39) A178V probably damaging Het
Stard13 A G 5: 150,969,366 (GRCm39) Y791H probably benign Het
Susd2 T A 10: 75,478,052 (GRCm39) I113L probably benign Het
Tcof1 T C 18: 60,964,628 (GRCm39) E666G possibly damaging Het
Tekt5 G T 16: 10,179,254 (GRCm39) A371E possibly damaging Het
Thap11 G A 8: 106,582,548 (GRCm39) E186K probably damaging Het
Tk2 A T 8: 104,974,315 (GRCm39) D45E possibly damaging Het
Tuba8 C A 6: 121,199,872 (GRCm39) Y185* probably null Het
Usp24 T A 4: 106,273,244 (GRCm39) Y2210N probably damaging Het
Wfdc8 A T 2: 164,439,239 (GRCm39) probably benign Het
Zar1l T C 5: 150,436,365 (GRCm39) N237S probably damaging Het
Zfp607b A T 7: 27,402,032 (GRCm39) T163S probably benign Het
Zfp619 C A 7: 39,184,577 (GRCm39) H202Q probably benign Het
Other mutations in C3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:C3 APN 17 57,533,004 (GRCm39) missense probably benign 0.01
IGL00741:C3 APN 17 57,527,206 (GRCm39) intron probably benign
IGL01093:C3 APN 17 57,530,949 (GRCm39) missense probably damaging 1.00
IGL01309:C3 APN 17 57,516,652 (GRCm39) intron probably benign
IGL01312:C3 APN 17 57,532,993 (GRCm39) unclassified probably benign
IGL01344:C3 APN 17 57,531,880 (GRCm39) missense probably benign
IGL01514:C3 APN 17 57,522,866 (GRCm39) missense probably benign 0.04
IGL01913:C3 APN 17 57,520,767 (GRCm39) missense probably null 0.01
IGL02165:C3 APN 17 57,532,092 (GRCm39) missense probably benign 0.17
IGL02176:C3 APN 17 57,533,337 (GRCm39) unclassified probably benign
IGL02189:C3 APN 17 57,527,113 (GRCm39) missense probably benign 0.01
IGL02378:C3 APN 17 57,519,698 (GRCm39) missense probably benign 0.19
IGL02422:C3 APN 17 57,533,823 (GRCm39) missense probably damaging 0.98
IGL02715:C3 APN 17 57,511,158 (GRCm39) intron probably benign
IGL02737:C3 APN 17 57,511,281 (GRCm39) missense probably benign 0.08
IGL03201:C3 APN 17 57,529,249 (GRCm39) missense probably damaging 1.00
IGL03210:C3 APN 17 57,522,846 (GRCm39) nonsense probably null
IGL03345:C3 APN 17 57,526,585 (GRCm39) missense probably damaging 1.00
PIT4431001:C3 UTSW 17 57,513,242 (GRCm39) missense probably benign 0.00
PIT4494001:C3 UTSW 17 57,516,263 (GRCm39) missense probably benign 0.01
R0158:C3 UTSW 17 57,531,851 (GRCm39) critical splice donor site probably null
R0318:C3 UTSW 17 57,531,709 (GRCm39) missense probably damaging 0.99
R1132:C3 UTSW 17 57,514,531 (GRCm39) critical splice donor site probably null
R1765:C3 UTSW 17 57,531,401 (GRCm39) splice site probably null
R1793:C3 UTSW 17 57,526,592 (GRCm39) missense possibly damaging 0.93
R1852:C3 UTSW 17 57,529,823 (GRCm39) missense probably damaging 0.98
R1908:C3 UTSW 17 57,516,489 (GRCm39) missense probably damaging 1.00
R1919:C3 UTSW 17 57,527,135 (GRCm39) missense probably damaging 1.00
R1935:C3 UTSW 17 57,525,829 (GRCm39) missense probably damaging 1.00
R2026:C3 UTSW 17 57,525,562 (GRCm39) missense probably damaging 1.00
R2108:C3 UTSW 17 57,530,974 (GRCm39) splice site probably null
R2197:C3 UTSW 17 57,526,623 (GRCm39) missense probably benign 0.32
R2394:C3 UTSW 17 57,529,303 (GRCm39) nonsense probably null
R2998:C3 UTSW 17 57,517,284 (GRCm39) missense probably benign 0.00
R3727:C3 UTSW 17 57,514,379 (GRCm39) missense possibly damaging 0.50
R3767:C3 UTSW 17 57,512,303 (GRCm39) missense possibly damaging 0.96
R3768:C3 UTSW 17 57,512,303 (GRCm39) missense possibly damaging 0.96
R3769:C3 UTSW 17 57,512,303 (GRCm39) missense possibly damaging 0.96
R3770:C3 UTSW 17 57,512,303 (GRCm39) missense possibly damaging 0.96
R3784:C3 UTSW 17 57,533,067 (GRCm39) missense probably damaging 0.99
R3883:C3 UTSW 17 57,524,173 (GRCm39) critical splice acceptor site probably null
R3884:C3 UTSW 17 57,524,173 (GRCm39) critical splice acceptor site probably null
R3950:C3 UTSW 17 57,532,286 (GRCm39) missense probably benign 0.02
R3966:C3 UTSW 17 57,525,664 (GRCm39) missense probably damaging 0.99
R4077:C3 UTSW 17 57,512,303 (GRCm39) missense possibly damaging 0.96
R4078:C3 UTSW 17 57,512,303 (GRCm39) missense possibly damaging 0.96
R4079:C3 UTSW 17 57,512,303 (GRCm39) missense possibly damaging 0.96
R4168:C3 UTSW 17 57,525,608 (GRCm39) missense probably benign 0.00
R4208:C3 UTSW 17 57,512,303 (GRCm39) missense possibly damaging 0.96
R4695:C3 UTSW 17 57,528,057 (GRCm39) missense probably benign
R4909:C3 UTSW 17 57,533,830 (GRCm39) critical splice donor site probably null
R5011:C3 UTSW 17 57,530,236 (GRCm39) missense probably benign 0.06
R5094:C3 UTSW 17 57,532,033 (GRCm39) critical splice donor site probably null
R5141:C3 UTSW 17 57,526,570 (GRCm39) missense probably damaging 0.98
R5170:C3 UTSW 17 57,530,938 (GRCm39) missense probably damaging 0.96
R5339:C3 UTSW 17 57,531,308 (GRCm39) missense probably damaging 0.99
R5369:C3 UTSW 17 57,528,159 (GRCm39) missense probably benign 0.45
R5412:C3 UTSW 17 57,527,187 (GRCm39) missense probably benign 0.01
R5439:C3 UTSW 17 57,511,502 (GRCm39) missense probably benign 0.28
R5463:C3 UTSW 17 57,518,720 (GRCm39) missense probably benign 0.08
R5572:C3 UTSW 17 57,531,673 (GRCm39) missense probably damaging 0.99
R5851:C3 UTSW 17 57,518,612 (GRCm39) missense probably null 0.14
R5863:C3 UTSW 17 57,530,141 (GRCm39) missense probably benign 0.06
R5888:C3 UTSW 17 57,521,831 (GRCm39) missense probably damaging 1.00
R5940:C3 UTSW 17 57,517,244 (GRCm39) missense possibly damaging 0.64
R6073:C3 UTSW 17 57,513,223 (GRCm39) missense probably null
R6091:C3 UTSW 17 57,528,967 (GRCm39) nonsense probably null
R6286:C3 UTSW 17 57,531,118 (GRCm39) missense probably damaging 1.00
R6524:C3 UTSW 17 57,524,264 (GRCm39) critical splice donor site probably null
R6868:C3 UTSW 17 57,511,029 (GRCm39) missense possibly damaging 0.55
R6896:C3 UTSW 17 57,527,864 (GRCm39) splice site probably null
R7007:C3 UTSW 17 57,525,809 (GRCm39) missense probably benign 0.00
R7022:C3 UTSW 17 57,524,286 (GRCm39) missense probably damaging 1.00
R7099:C3 UTSW 17 57,513,276 (GRCm39) missense probably benign 0.28
R7117:C3 UTSW 17 57,519,655 (GRCm39) missense probably benign 0.01
R7347:C3 UTSW 17 57,530,215 (GRCm39) missense probably benign 0.09
R7366:C3 UTSW 17 57,528,162 (GRCm39) missense probably benign 0.00
R7423:C3 UTSW 17 57,521,767 (GRCm39) missense probably damaging 1.00
R7425:C3 UTSW 17 57,511,039 (GRCm39) missense possibly damaging 0.81
R7481:C3 UTSW 17 57,527,136 (GRCm39) missense probably damaging 1.00
R7540:C3 UTSW 17 57,513,220 (GRCm39) missense probably benign 0.01
R7746:C3 UTSW 17 57,525,859 (GRCm39) missense probably damaging 1.00
R7771:C3 UTSW 17 57,522,797 (GRCm39) missense probably damaging 1.00
R7884:C3 UTSW 17 57,533,264 (GRCm39) missense probably benign 0.05
R8144:C3 UTSW 17 57,533,276 (GRCm39) missense probably damaging 0.98
R8279:C3 UTSW 17 57,522,809 (GRCm39) missense probably benign 0.28
R8284:C3 UTSW 17 57,530,938 (GRCm39) missense probably benign 0.39
R8328:C3 UTSW 17 57,527,973 (GRCm39) missense probably benign 0.00
R8353:C3 UTSW 17 57,519,643 (GRCm39) missense probably benign 0.00
R8396:C3 UTSW 17 57,528,029 (GRCm39) missense probably benign
R8429:C3 UTSW 17 57,529,811 (GRCm39) missense probably damaging 1.00
R8453:C3 UTSW 17 57,519,643 (GRCm39) missense probably benign 0.00
R8557:C3 UTSW 17 57,531,383 (GRCm39) missense probably benign 0.00
R8738:C3 UTSW 17 57,511,015 (GRCm39) makesense probably null
R8794:C3 UTSW 17 57,528,011 (GRCm39) missense probably benign
R9130:C3 UTSW 17 57,518,678 (GRCm39) missense probably damaging 1.00
R9296:C3 UTSW 17 57,511,291 (GRCm39) missense probably benign
R9432:C3 UTSW 17 57,530,950 (GRCm39) missense probably damaging 1.00
R9451:C3 UTSW 17 57,531,169 (GRCm39) missense probably benign 0.03
R9542:C3 UTSW 17 57,532,037 (GRCm39) missense probably damaging 1.00
R9615:C3 UTSW 17 57,518,669 (GRCm39) missense probably damaging 1.00
R9624:C3 UTSW 17 57,527,189 (GRCm39) missense probably benign 0.00
Z1177:C3 UTSW 17 57,533,171 (GRCm39) missense probably damaging 0.99
Z1177:C3 UTSW 17 57,524,144 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- CCGTGCCAATACAGGAATCC -3'
(R):5'- CAATGTCAACTTCCACCTGCG -3'

Sequencing Primer
(F):5'- GTGCCAATACAGGAATCCTTCAC -3'
(R):5'- ACAGACCCAGGCCATGAGG -3'
Posted On 2016-10-24