Incidental Mutation 'R3950:C3'
ID 307904
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 040930-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3950 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 57510970-57535136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57532286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 178 (R178G)
Ref Sequence ENSEMBL: ENSMUSP00000024988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024988] [ENSMUST00000177425]
AlphaFold P01027
Predicted Effect probably benign
Transcript: ENSMUST00000024988
AA Change: R178G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000024988
Gene: ENSMUSG00000024164
AA Change: R178G

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 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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,494,747 (GRCm39) probably null Het
Ahnak2 A T 12: 112,749,409 (GRCm39) I186N probably damaging Het
Appbp2 A G 11: 85,085,532 (GRCm39) I458T probably damaging Het
Arhgef25 T C 10: 127,021,013 (GRCm39) Y291C probably damaging Het
Ate1 T C 7: 130,069,022 (GRCm39) Y415C probably damaging Het
B4galt4 G T 16: 38,588,384 (GRCm39) A72S probably benign Het
Cdh23 T C 10: 60,493,105 (GRCm39) Y3C probably benign Het
Col11a1 T C 3: 113,915,094 (GRCm39) probably null Het
Col22a1 A G 15: 71,849,207 (GRCm39) F294L possibly damaging Het
Dera A G 6: 137,814,118 (GRCm39) Y100C probably damaging Het
Dync2h1 A T 9: 7,112,061 (GRCm39) Y276* probably null Het
Eea1 A T 10: 95,877,996 (GRCm39) N1389I probably damaging Het
Epha4 A T 1: 77,376,353 (GRCm39) Y509N probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fezf1 T A 6: 23,247,419 (GRCm39) K219* probably null Het
Fsd1 G A 17: 56,302,517 (GRCm39) probably null Het
Haspin A G 11: 73,027,221 (GRCm39) Y623H probably damaging Het
Hsd3b1 C T 3: 98,763,454 (GRCm39) V56M possibly damaging Het
Hyou1 C T 9: 44,296,524 (GRCm39) T483I probably damaging Het
Kdm2a A G 19: 4,393,260 (GRCm39) L365S possibly damaging Het
Kdm6b G T 11: 69,296,441 (GRCm39) P609T probably damaging Het
Klhl18 T A 9: 110,257,970 (GRCm39) Y490F probably damaging Het
Ky C T 9: 102,419,627 (GRCm39) Q545* probably null Het
L1td1 T C 4: 98,625,590 (GRCm39) L595P probably benign Het
Map3k20 T G 2: 72,268,644 (GRCm39) I550M probably damaging Het
Mug1 T A 6: 121,855,489 (GRCm39) V941E probably damaging Het
Ndst1 T C 18: 60,830,211 (GRCm39) N633S probably benign Het
Ninl A T 2: 150,794,408 (GRCm39) I740K possibly damaging Het
Npepl1 A G 2: 173,962,906 (GRCm39) N431D probably damaging Het
Or5w10 T C 2: 87,375,409 (GRCm39) T160A probably damaging Het
Pacs2 T C 12: 113,024,733 (GRCm39) S408P probably damaging Het
Pard6b C T 2: 167,941,114 (GRCm39) T367I probably damaging Het
Pcdhga7 A G 18: 37,849,568 (GRCm39) E525G probably damaging Het
Pctp A G 11: 89,878,144 (GRCm39) I130T probably benign Het
Pcx C T 19: 4,667,995 (GRCm39) H506Y probably benign Het
Pdhx A G 2: 102,865,586 (GRCm39) S199P probably damaging Het
Pdia2 C A 17: 26,416,590 (GRCm39) probably null Het
Pif1 C A 9: 65,499,116 (GRCm39) N445K probably damaging Het
Prickle4 T C 17: 47,999,507 (GRCm39) K349E probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptpdc1 A T 13: 48,742,670 (GRCm39) M173K probably damaging Het
Rb1 A G 14: 73,500,102 (GRCm39) L515P probably damaging Het
Rcvrn A G 11: 67,590,877 (GRCm39) K154E probably damaging Het
Ros1 C T 10: 51,942,484 (GRCm39) V2059I probably damaging Het
Rtn4ip1 T A 10: 43,785,893 (GRCm39) probably null Het
Sema5a T C 15: 32,689,484 (GRCm39) Y1050H probably damaging Het
Slc25a28 C T 19: 43,652,708 (GRCm39) V318I probably benign Het
Srek1 G A 13: 103,881,403 (GRCm39) R408W unknown Het
Synrg C T 11: 83,880,641 (GRCm39) T444I probably damaging Het
Ticrr T C 7: 79,331,817 (GRCm39) L776S probably damaging Het
Tmem127 T C 2: 127,090,577 (GRCm39) L31P probably damaging Het
Tmprss15 T A 16: 78,870,074 (GRCm39) T190S probably benign Het
Trip10 T A 17: 57,560,411 (GRCm39) probably null Het
Ttc6 A G 12: 57,696,292 (GRCm39) Y31C probably damaging Het
Unc80 A T 1: 66,661,729 (GRCm39) H1718L possibly damaging Het
Zbtb38 A G 9: 96,569,599 (GRCm39) F495S probably damaging Het
Zfp280d G T 9: 72,203,301 (GRCm39) Q16H possibly damaging Het
Zfp521 A G 18: 13,979,403 (GRCm39) S337P probably damaging Het
Zswim9 T A 7: 12,995,503 (GRCm39) T218S possibly damaging 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
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
R5546:C3 UTSW 17 57,529,976 (GRCm39) missense probably damaging 0.99
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'- CCCATGCTGCAAGAAGATGAG -3'
(R):5'- AAACACCCAGGCTTTTGCTG -3'

Sequencing Primer
(F):5'- CCATGCTGCAAGAAGATGAGGAATG -3'
(R):5'- CACAGAGAGGTTGAGCTATTTACCTG -3'
Posted On 2015-04-17