Incidental Mutation 'R2197:C3'
ID 238460
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 040199-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2197 (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 57526623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 786 (I786T)
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: I786T

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000024988
Gene: ENSMUSG00000024164
AA Change: I786T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184453
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 A T 11: 102,660,750 (GRCm39) I94F possibly damaging Het
Ankrd50 A T 3: 38,509,741 (GRCm39) D875E probably damaging Het
Arf3 T C 15: 98,639,285 (GRCm39) N60S probably benign Het
Atxn2 T G 5: 121,944,280 (GRCm39) probably null Het
B3gnt8 A T 7: 25,328,373 (GRCm39) I268F probably benign Het
Bmp1 T A 14: 70,723,712 (GRCm39) D708V possibly damaging Het
C1s2 A G 6: 124,609,069 (GRCm39) S163P probably damaging Het
Cacna2d2 T A 9: 107,404,602 (GRCm39) L1138Q probably damaging Het
Cage1 T A 13: 38,207,029 (GRCm39) Y272F probably damaging Het
Cd300ld A T 11: 114,875,058 (GRCm39) M192K possibly damaging Het
Cdc5l A T 17: 45,718,745 (GRCm39) F624I probably benign Het
Cdh8 T A 8: 99,922,897 (GRCm39) Q333L probably damaging Het
Ciapin1 T A 8: 95,555,787 (GRCm39) K128* probably null Het
Col6a3 T A 1: 90,731,467 (GRCm39) E988D probably benign Het
Crip3 A G 17: 46,740,338 (GRCm39) E46G probably damaging Het
D5Ertd579e A G 5: 36,772,137 (GRCm39) S753P possibly damaging Het
Dock6 T A 9: 21,744,177 (GRCm39) D126V probably damaging Het
Duxf4 T A 10: 58,072,158 (GRCm39) I19F possibly damaging Het
Dvl3 A G 16: 20,342,506 (GRCm39) E153G probably damaging Het
Epas1 A T 17: 87,136,471 (GRCm39) M748L probably benign Het
Exoc8 A G 8: 125,622,477 (GRCm39) L630P probably damaging Het
Fam227a G A 15: 79,507,668 (GRCm39) T454M probably damaging Het
Flnc A T 6: 29,459,134 (GRCm39) D2472V probably damaging Het
Galnt4 G A 10: 98,944,509 (GRCm39) G78E probably damaging Het
Ghr A T 15: 3,362,956 (GRCm39) L172* probably null Het
Gjb5 A T 4: 127,250,063 (GRCm39) probably null Het
Hdac5 T C 11: 102,095,340 (GRCm39) D427G probably damaging Het
Hsd17b4 G A 18: 50,316,369 (GRCm39) probably null Het
Kcnab1 T C 3: 65,017,368 (GRCm39) I59T probably benign Het
Kcnh7 A G 2: 62,607,950 (GRCm39) Y544H probably damaging Het
Kdm7a A G 6: 39,123,870 (GRCm39) S765P probably damaging Het
Lama1 A T 17: 68,059,936 (GRCm39) H675L probably benign Het
Lemd3 CCCTCCTCCTCCTCCTCCTCC CCCTCCTCCTCCTCCTCC 10: 120,814,432 (GRCm39) probably benign Het
Llgl1 T C 11: 60,600,865 (GRCm39) S654P possibly damaging Het
Lvrn G T 18: 47,011,409 (GRCm39) M455I probably benign Het
Mfsd12 T A 10: 81,193,568 (GRCm39) L46Q probably damaging Het
Mtcl1 A T 17: 66,673,427 (GRCm39) M783K probably benign Het
Mthfd1l A T 10: 3,978,399 (GRCm39) T420S probably damaging Het
Mybphl T A 3: 108,284,635 (GRCm39) I294N probably damaging Het
Or4c52 G A 2: 89,845,768 (GRCm39) G165S probably damaging Het
Or4f14b T C 2: 111,775,658 (GRCm39) T48A possibly damaging Het
Or52ab7 T A 7: 102,977,831 (GRCm39) L46* probably null Het
Oxa1l A T 14: 54,598,924 (GRCm39) Q70L probably benign Het
Pcdhac2 A T 18: 37,279,185 (GRCm39) I722F probably damaging Het
Pde4d A G 13: 110,084,924 (GRCm39) D460G probably damaging Het
Pth1r CGGG CGGGGGG 9: 110,556,058 (GRCm39) probably benign Het
Rab11fip3 A G 17: 26,287,152 (GRCm39) S334P probably benign Het
Ror2 C T 13: 53,439,816 (GRCm39) probably null Het
Scnn1g G C 7: 121,366,519 (GRCm39) W572S probably damaging Het
Skint5 G A 4: 113,798,046 (GRCm39) S179L probably damaging Het
Slc22a2 G T 17: 12,817,949 (GRCm39) G175V probably damaging Het
Spaca6 G A 17: 18,056,416 (GRCm39) probably null Het
Tbc1d30 C T 10: 121,140,312 (GRCm39) R207H probably damaging Het
Tdrd5 A G 1: 156,087,435 (GRCm39) I829T probably benign Het
Tmcc3 T C 10: 94,414,780 (GRCm39) S161P probably damaging Het
Tmem150b A G 7: 4,719,353 (GRCm39) V189A probably benign Het
Tmem248 A G 5: 130,260,597 (GRCm39) D54G probably benign Het
Trmt1 T A 8: 85,417,487 (GRCm39) S121T probably damaging Het
Tyk2 C T 9: 21,026,503 (GRCm39) V698M probably damaging Het
Usp17la A G 7: 104,509,919 (GRCm39) R175G probably damaging Het
Vav1 A G 17: 57,610,140 (GRCm39) N464S probably benign Het
Vmn2r57 T G 7: 41,078,249 (GRCm39) probably null Het
Vmn2r78 A G 7: 86,570,535 (GRCm39) Y351C probably 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
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
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'- GACTTCATGAGTTTACATGTGCGC -3'
(R):5'- TCTGGATTCATCCCTGAGGG -3'

Sequencing Primer
(F):5'- CCAAAGGTTGACCCTGAGTG -3'
(R):5'- ATTCATCCCTGAGGGCTGATG -3'
Posted On 2014-10-02