Incidental Mutation 'R2108:C3'
ID 232314
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 040112-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2108 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 57510970-57535136 bp(-) (GRCm39)
Type of Mutation splice site (2857 bp from exon)
DNA Base Change (assembly) A to T at 57530974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000024988] [ENSMUST00000177425]
AlphaFold P01027
Predicted Effect probably benign
Transcript: ENSMUST00000024988
AA Change: F376I

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000024988
Gene: ENSMUSG00000024164
AA Change: F376I

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 null
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: 97.4%
  • 20x: 95.5%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd10 A G 16: 45,552,303 (GRCm39) M190T probably benign Het
Abhd5 A G 9: 122,207,005 (GRCm39) Y250C probably damaging Het
Ace2 A G X: 162,923,728 (GRCm39) N24S probably benign Het
Adamtsl2 A G 2: 26,985,570 (GRCm39) M485V probably benign Het
Adamtsl4 G T 3: 95,588,357 (GRCm39) P577H probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Apc T C 18: 34,402,282 (GRCm39) Y141H probably damaging Het
Arsi A T 18: 61,049,443 (GRCm39) T109S possibly damaging Het
Asb3 G A 11: 31,031,355 (GRCm39) probably null Het
Atm T C 9: 53,355,297 (GRCm39) D2899G probably damaging Het
Bcas3 G A 11: 85,348,704 (GRCm39) V199I probably damaging Het
Bub1 T C 2: 127,661,255 (GRCm39) K279E probably damaging Het
Cabcoco1 T C 10: 68,267,153 (GRCm39) K185E probably benign Het
Cadm2 A T 16: 66,528,357 (GRCm39) I326N probably benign Het
Ccr3 T C 9: 123,829,336 (GRCm39) S224P possibly damaging Het
Cdhr4 A G 9: 107,874,843 (GRCm39) T638A probably damaging Het
Cfap46 T C 7: 139,263,677 (GRCm39) I4V probably benign Het
Csf2rb2 A T 15: 78,176,744 (GRCm39) V216E probably damaging Het
Csmd3 A T 15: 47,868,257 (GRCm39) D754E possibly damaging Het
Dnaaf1 T C 8: 120,309,471 (GRCm39) probably null Het
Dnah11 A C 12: 117,984,088 (GRCm39) Y2466D probably damaging Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
E2f7 T C 10: 110,616,763 (GRCm39) Y668H probably benign Het
Ehmt1 A T 2: 24,727,630 (GRCm39) S735T probably damaging Het
Eomes T C 9: 118,307,920 (GRCm39) F65L probably benign Het
Ercc6l2 T C 13: 64,019,802 (GRCm39) probably benign Het
Fbrsl1 A T 5: 110,526,300 (GRCm39) L439Q probably damaging Het
Fyco1 C T 9: 123,626,581 (GRCm39) probably null Het
Gfm2 A G 13: 97,291,950 (GRCm39) T229A probably benign Het
Gm7735 G A 16: 88,966,433 (GRCm39) G19D unknown Het
Gnpda1 T C 18: 38,466,243 (GRCm39) probably null Het
Gpr6 T A 10: 40,946,649 (GRCm39) Y311F possibly damaging Het
Gprc6a A T 10: 51,491,304 (GRCm39) V744E probably damaging Het
Grin3a C T 4: 49,665,510 (GRCm39) D1042N possibly damaging Het
Gstm3 A G 3: 107,873,450 (GRCm39) C174R probably damaging Het
Hectd4 A G 5: 121,471,487 (GRCm39) E2670G possibly damaging Het
Hsd3b6 A T 3: 98,713,503 (GRCm39) Y265* probably null Het
Hus1 T A 11: 8,961,110 (GRCm39) M1L probably null Het
Idi2l G A 13: 8,991,764 (GRCm39) P221S possibly damaging Het
Ifi213 T G 1: 173,396,668 (GRCm39) probably null Het
Igf2r A C 17: 12,917,138 (GRCm39) N1587K probably benign Het
Ints1 A T 5: 139,753,505 (GRCm39) V709E probably damaging Het
Ints8 C A 4: 11,235,552 (GRCm39) R359L probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrp1b C T 2: 41,000,769 (GRCm39) E2152K probably damaging Het
Lrp2 A T 2: 69,336,968 (GRCm39) V1268D possibly damaging Het
Mpo T C 11: 87,686,901 (GRCm39) Y177H probably damaging Het
Mpp4 G A 1: 59,182,941 (GRCm39) P322L possibly damaging Het
Mprip A G 11: 59,660,717 (GRCm39) K2166R probably damaging Het
Myo15a T C 11: 60,382,636 (GRCm39) Y1544H probably damaging Het
Neu1 G A 17: 35,153,374 (GRCm39) R299Q probably benign Het
Nfxl1 C A 5: 72,671,675 (GRCm39) probably null Het
Nrp2 T A 1: 62,783,436 (GRCm39) I179N probably damaging Het
Nup153 A G 13: 46,846,986 (GRCm39) probably null Het
Or1j4 C A 2: 36,740,355 (GRCm39) A99E possibly damaging Het
Or2g7 G T 17: 38,378,746 (GRCm39) R228L possibly damaging Het
Or5p54 A T 7: 107,554,709 (GRCm39) H287L probably benign Het
Or6c6c A T 10: 129,541,490 (GRCm39) I248L probably benign Het
Or8g27 A T 9: 39,129,318 (GRCm39) I222F probably damaging Het
P2ry12 A T 3: 59,124,774 (GRCm39) D300E probably damaging Het
Pkhd1 C A 1: 20,623,798 (GRCm39) G766* probably null Het
Plagl1 A C 10: 13,004,391 (GRCm39) probably benign Het
Prkcq A T 2: 11,237,380 (GRCm39) Y53F probably damaging Het
Psg18 T C 7: 18,084,799 (GRCm39) E99G probably damaging Het
Ptprz1 T A 6: 23,033,476 (GRCm39) H1921Q probably damaging Het
Rcc1l A G 5: 134,184,629 (GRCm39) V391A probably benign Het
Sdr42e1 C T 8: 118,391,763 (GRCm39) V11I probably damaging Het
Slc12a3 C A 8: 95,067,158 (GRCm39) N404K probably damaging Het
Slc38a4 T C 15: 96,906,878 (GRCm39) M287V probably benign Het
Slc6a8 A T X: 72,720,492 (GRCm39) I96F possibly damaging Het
Smyd2 A G 1: 189,629,623 (GRCm39) S136P probably damaging Het
Sox11 A G 12: 27,391,702 (GRCm39) Y236H probably damaging Het
Tbc1d2 G A 4: 46,637,652 (GRCm39) P198L possibly damaging Het
Tcof1 G T 18: 60,968,845 (GRCm39) A256E probably damaging Het
Tenm4 A G 7: 96,555,497 (GRCm39) Y2726C probably damaging Het
Tnfsf14 T A 17: 57,497,867 (GRCm39) R122W probably damaging Het
Tril T C 6: 53,796,068 (GRCm39) T385A probably damaging Het
Trrap A G 5: 144,762,684 (GRCm39) T2386A probably benign Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Uba7 A G 9: 107,856,487 (GRCm39) M595V probably benign Het
Usp43 GC G 11: 67,746,566 (GRCm39) probably null Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vmn2r69 T C 7: 85,059,404 (GRCm39) I502V probably benign Het
Vps13d C A 4: 144,801,617 (GRCm39) G419C probably damaging Het
Zbtb25 A T 12: 76,396,880 (GRCm39) M114K probably benign Het
Zcchc4 A G 5: 52,953,474 (GRCm39) Y161C probably damaging Het
Zfp292 A T 4: 34,808,593 (GRCm39) F1484I possibly damaging Het
Zfp326 A G 5: 106,062,646 (GRCm39) probably benign Het
Zfp395 T A 14: 65,630,565 (GRCm39) S372T probably benign Het
Zfp423 T A 8: 88,507,806 (GRCm39) E825V possibly damaging Het
Zfp445 A T 9: 122,681,305 (GRCm39) Y879N probably benign Het
Zfp451 A G 1: 33,818,248 (GRCm39) I77T possibly damaging Het
Zfp85 A T 13: 67,897,003 (GRCm39) S356R 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
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
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'- TGAAAACAGCAGAGCTCTGTG -3'
(R):5'- CCTCAGGTAGTGACATGGTAGAG -3'

Sequencing Primer
(F):5'- TTCCCTGACCGTGGAGAC -3'
(R):5'- CGCAGTGGGATCCCGATTG -3'
Posted On 2014-09-18