Incidental Mutation 'R2047:C7'
ID 222151
Institutional Source Beutler Lab
Gene Symbol C7
Ensembl Gene ENSMUSG00000079105
Gene Name complement component 7
Synonyms LOC383055
MMRRC Submission 040054-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2047 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 5018244-5093222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5075143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 183 (L183P)
Ref Sequence ENSEMBL: ENSMUSP00000106317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110689]
AlphaFold D3YXF5
Predicted Effect probably damaging
Transcript: ENSMUST00000110689
AA Change: L183P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106317
Gene: ENSMUSG00000079105
AA Change: L183P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
TSP1 30 80 1.95e-7 SMART
LDLa 84 121 6.53e-9 SMART
MACPF 248 450 9.45e-51 SMART
TSP1 503 551 1.62e-4 SMART
CCP 571 626 1.84e-9 SMART
CCP 631 688 2.23e-8 SMART
FIMAC 699 766 1.63e-24 SMART
FIMAC 773 841 4.65e-20 SMART
Meta Mutation Damage Score 0.5270 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik A G 7: 130,747,836 (GRCm39) F52S probably damaging Het
Acot12 T C 13: 91,931,122 (GRCm39) S457P probably damaging Het
Adcy5 G A 16: 35,110,478 (GRCm39) V882M possibly damaging Het
Ahnak A G 19: 8,991,664 (GRCm39) D4316G possibly damaging Het
Aldh1l2 G A 10: 83,342,607 (GRCm39) A401V probably damaging Het
Apol7e A G 15: 77,601,810 (GRCm39) H136R probably benign Het
Arl5a A G 2: 52,302,072 (GRCm39) probably null Het
Asns G T 6: 7,680,093 (GRCm39) A341E probably damaging Het
Cacng2 C T 15: 78,003,037 (GRCm39) A19T probably damaging Het
Ccdc121rt2 A G 5: 112,598,575 (GRCm39) N374S probably benign Het
Ccr4 A G 9: 114,321,633 (GRCm39) F144S probably damaging Het
Ckap2 A G 8: 22,658,763 (GRCm39) V660A probably benign Het
Cramp1 A T 17: 25,222,189 (GRCm39) Y176* probably null Het
Dgki A G 6: 36,890,581 (GRCm39) S922P possibly damaging Het
Drd5 C T 5: 38,477,679 (GRCm39) S224L probably damaging Het
Ei24 T C 9: 36,691,459 (GRCm39) K341E probably benign Het
Eno2 A T 6: 124,744,659 (GRCm39) probably benign Het
Epb41l4a T C 18: 33,961,259 (GRCm39) N425S probably benign Het
F13b T G 1: 139,435,961 (GRCm39) C256G probably damaging Het
Gp6 A T 7: 4,376,270 (GRCm39) probably benign Het
H2-Q7 A T 17: 35,659,123 (GRCm39) R191S probably damaging Het
Ivns1abp T A 1: 151,227,382 (GRCm39) S63R possibly damaging Het
Kcnj16 A G 11: 110,915,946 (GRCm39) probably null Het
Lpcat4 T C 2: 112,075,142 (GRCm39) probably null Het
Lrrc14b T C 13: 74,511,561 (GRCm39) K173R probably benign Het
Maml3 C A 3: 51,597,866 (GRCm39) R939S probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Mrpl46 T A 7: 78,431,312 (GRCm39) Y82F probably damaging Het
Mthfs T A 9: 89,097,356 (GRCm39) I71N probably damaging Het
Nectin4 T C 1: 171,212,720 (GRCm39) V351A possibly damaging Het
Npas3 T C 12: 54,115,612 (GRCm39) F827L probably damaging Het
Nrp1 G A 8: 129,224,577 (GRCm39) probably benign Het
Ocln C A 13: 100,671,632 (GRCm39) A242S probably damaging Het
Or10ad1c T A 15: 98,084,920 (GRCm39) T253S probably damaging Het
Or13g1 G A 7: 85,956,012 (GRCm39) T103I probably damaging Het
Or5d37 A T 2: 87,924,237 (GRCm39) N14K probably benign Het
Pappa T C 4: 65,149,378 (GRCm39) probably benign Het
Ptpn6 T C 6: 124,698,752 (GRCm39) T480A probably benign Het
Pycr1 A T 11: 120,532,512 (GRCm39) D168E possibly damaging Het
Rnf6 T C 5: 146,148,674 (GRCm39) T126A probably damaging Het
Slc25a39 G A 11: 102,296,657 (GRCm39) probably benign Het
Slc35f4 G T 14: 49,541,029 (GRCm39) probably benign Het
Sppl2a C T 2: 126,768,772 (GRCm39) A112T probably damaging Het
Sptbn1 A C 11: 30,088,360 (GRCm39) probably benign Het
Sqle T C 15: 59,197,907 (GRCm39) Y376H probably benign Het
Terb1 A T 8: 105,212,094 (GRCm39) Y296N probably damaging Het
Ttbk2 T C 2: 120,579,397 (GRCm39) H506R probably damaging Het
Ttn T C 2: 76,737,879 (GRCm39) D4220G probably benign Het
Tub A G 7: 108,625,939 (GRCm39) D230G probably benign Het
Ube2d3 T A 3: 135,170,967 (GRCm39) I137K probably benign Het
Vldlr G T 19: 27,212,238 (GRCm39) C84F probably damaging Het
Vmn1r54 A T 6: 90,246,970 (GRCm39) I295F probably damaging Het
Vmn2r56 A G 7: 12,466,918 (GRCm39) S39P probably damaging Het
Zfp358 A G 8: 3,545,934 (GRCm39) H172R probably damaging Het
Zfp619 T C 7: 39,187,062 (GRCm39) C1031R probably damaging Het
Zfp777 A G 6: 48,021,280 (GRCm39) I114T probably benign Het
Other mutations in C7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02458:C7 APN 15 5,088,871 (GRCm39) splice site probably benign
IGL02803:C7 APN 15 5,079,042 (GRCm39) missense probably damaging 1.00
R0016:C7 UTSW 15 5,076,406 (GRCm39) missense probably benign 0.01
R0016:C7 UTSW 15 5,076,406 (GRCm39) missense probably benign 0.01
R0271:C7 UTSW 15 5,044,862 (GRCm39) missense possibly damaging 0.81
R0360:C7 UTSW 15 5,018,444 (GRCm39) missense probably benign 0.00
R0433:C7 UTSW 15 5,018,398 (GRCm39) missense probably damaging 1.00
R0505:C7 UTSW 15 5,023,624 (GRCm39) splice site probably benign
R1056:C7 UTSW 15 5,075,260 (GRCm39) missense possibly damaging 0.89
R1443:C7 UTSW 15 5,088,901 (GRCm39) missense probably benign 0.01
R1468:C7 UTSW 15 5,041,631 (GRCm39) missense probably damaging 1.00
R1468:C7 UTSW 15 5,041,631 (GRCm39) missense probably damaging 1.00
R1700:C7 UTSW 15 5,032,274 (GRCm39) nonsense probably null
R1774:C7 UTSW 15 5,041,557 (GRCm39) missense probably damaging 0.99
R1801:C7 UTSW 15 5,041,503 (GRCm39) missense possibly damaging 0.61
R1809:C7 UTSW 15 5,063,821 (GRCm39) missense probably damaging 0.99
R1986:C7 UTSW 15 5,041,494 (GRCm39) missense possibly damaging 0.94
R2037:C7 UTSW 15 5,063,720 (GRCm39) nonsense probably null
R2073:C7 UTSW 15 5,019,910 (GRCm39) missense probably benign 0.09
R3972:C7 UTSW 15 5,037,133 (GRCm39) missense possibly damaging 0.77
R4080:C7 UTSW 15 5,019,946 (GRCm39) missense probably benign 0.09
R4200:C7 UTSW 15 5,019,791 (GRCm39) critical splice donor site probably null
R4576:C7 UTSW 15 5,032,238 (GRCm39) missense probably damaging 1.00
R4815:C7 UTSW 15 5,088,887 (GRCm39) missense probably benign 0.16
R4995:C7 UTSW 15 5,079,074 (GRCm39) missense probably damaging 1.00
R5300:C7 UTSW 15 5,061,432 (GRCm39) missense probably damaging 1.00
R5562:C7 UTSW 15 5,061,397 (GRCm39) nonsense probably null
R5708:C7 UTSW 15 5,044,883 (GRCm39) missense possibly damaging 0.90
R5740:C7 UTSW 15 5,086,522 (GRCm39) missense probably benign 0.00
R5873:C7 UTSW 15 5,034,717 (GRCm39) missense probably damaging 1.00
R6222:C7 UTSW 15 5,041,423 (GRCm39) missense possibly damaging 0.89
R6516:C7 UTSW 15 5,086,563 (GRCm39) missense probably damaging 0.98
R6810:C7 UTSW 15 5,037,136 (GRCm39) missense probably damaging 0.98
R7019:C7 UTSW 15 5,075,164 (GRCm39) missense probably benign 0.04
R7199:C7 UTSW 15 5,023,725 (GRCm39) missense probably benign 0.09
R7276:C7 UTSW 15 5,041,449 (GRCm39) missense probably damaging 1.00
R7422:C7 UTSW 15 5,041,538 (GRCm39) missense probably benign 0.13
R7652:C7 UTSW 15 5,041,587 (GRCm39) missense probably damaging 1.00
R7783:C7 UTSW 15 5,037,192 (GRCm39) missense probably benign 0.08
R8266:C7 UTSW 15 5,037,141 (GRCm39) missense probably damaging 0.99
R8295:C7 UTSW 15 5,018,327 (GRCm39) missense probably damaging 1.00
R8848:C7 UTSW 15 5,088,911 (GRCm39) missense probably damaging 0.96
R8951:C7 UTSW 15 5,032,231 (GRCm39) missense probably benign 0.00
R9008:C7 UTSW 15 5,040,409 (GRCm39) missense
R9256:C7 UTSW 15 5,023,645 (GRCm39) missense probably damaging 1.00
R9466:C7 UTSW 15 5,044,884 (GRCm39) missense probably benign 0.05
R9562:C7 UTSW 15 5,086,579 (GRCm39) critical splice acceptor site probably null
R9565:C7 UTSW 15 5,086,579 (GRCm39) critical splice acceptor site probably null
R9655:C7 UTSW 15 5,041,464 (GRCm39) missense probably damaging 1.00
R9757:C7 UTSW 15 5,075,134 (GRCm39) missense probably damaging 0.98
Z1177:C7 UTSW 15 5,044,857 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- ACTCCAACTCATCTGTGTAAGC -3'
(R):5'- CCCCAAGCAGGTACTAGTTCTG -3'

Sequencing Primer
(F):5'- CCAACTCATCTGTGTAAGCTTCATAG -3'
(R):5'- CAAGCAGGTACTAGTTCTGTTTTTC -3'
Posted On 2014-08-25