Incidental Mutation 'R9218:Hc'
ID 699289
Institutional Source Beutler Lab
Gene Symbol Hc
Ensembl Gene ENSMUSG00000026874
Gene Name hemolytic complement
Synonyms C5, Hfib2, He, C5a
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.492) question?
Stock # R9218 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 34873343-34951450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34922203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 541 (L541P)
Ref Sequence ENSEMBL: ENSMUSP00000028233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028233]
AlphaFold P06684
PDB Structure Crystal structure of the mouse C5a anaphylatoxin [X-RAY DIFFRACTION]
Crystal structure of the mouse C5a-desArg anaphylatoxin [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000028233
AA Change: L541P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028233
Gene: ENSMUSG00000026874
AA Change: L541P

DomainStartEndE-ValueType
Pfam:A2M_N 125 219 1.8e-15 PFAM
A2M_N_2 465 612 9.83e-34 SMART
ANATO 702 736 4.73e-12 SMART
A2M 776 863 2.44e-29 SMART
Pfam:A2M_comp 1055 1306 2.3e-68 PFAM
A2M_recep 1423 1513 7.29e-28 SMART
C345C 1553 1665 1.51e-35 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 93% (57/61)
MGI Phenotype FUNCTION: This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mice with a homozygous mutation in this gene exhibit impaired bone fracture healing and an enhanced inflammatory response in an allergic lung disease model. [provided by RefSeq, Nov 2015]
PHENOTYPE: Macrophage from mice homozygous for disruptions of this gene do not secrete complement C5.

The 2 bp deletion found in A/J and AKR/J strains is associated with susceptibility to allergen-induced bronchial hyperresponsiveness and is a candidate for QTL Abhr2.

[provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,610,460 (GRCm39) T378A probably damaging Het
Abcb4 A G 5: 8,977,960 (GRCm39) M513V probably benign Het
Abhd18 T C 3: 40,871,201 (GRCm39) probably null Het
Adamtsl4 A T 3: 95,588,404 (GRCm39) Y561* probably null Het
Alx4 T A 2: 93,473,172 (GRCm39) F57I possibly damaging Het
Ap3b1 A G 13: 94,584,959 (GRCm39) probably null Het
Arsj A C 3: 126,232,114 (GRCm39) N287H probably benign Het
Bltp3a T A 17: 28,114,529 (GRCm39) C1387S probably benign Het
Cabp4 T A 19: 4,188,693 (GRCm39) probably null Het
Cdcp3 C T 7: 130,863,728 (GRCm39) H1244Y unknown Het
Cdh6 T C 15: 13,057,556 (GRCm39) N255S probably null Het
Ctrb1 C T 8: 112,416,140 (GRCm39) V49M probably damaging Het
Cts3 A G 13: 61,716,583 (GRCm39) S18P possibly damaging Het
Dcst1 A T 3: 89,272,412 (GRCm39) I17N probably benign Het
Dennd5a G A 7: 109,507,592 (GRCm39) H823Y probably damaging Het
Dmrt2 T G 19: 25,651,066 (GRCm39) L84R possibly damaging Het
Dock9 G T 14: 121,905,871 (GRCm39) T93K probably damaging Het
Fsip2 C T 2: 82,823,062 (GRCm39) P6265L probably damaging Het
Fxn T A 19: 24,239,388 (GRCm39) K168M probably damaging Het
Hsd3b5 T C 3: 98,526,354 (GRCm39) H364R probably benign Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Inf2 G A 12: 112,567,858 (GRCm39) D163N possibly damaging Het
Iqcd C T 5: 120,738,707 (GRCm39) P175L possibly damaging Het
Iqck C T 7: 118,540,902 (GRCm39) A267V probably damaging Het
Kcnh1 A T 1: 192,135,938 (GRCm39) N66I unknown Het
Kif16b T A 2: 142,541,583 (GRCm39) E1239V possibly damaging Het
Mctp1 A G 13: 76,871,816 (GRCm39) D362G possibly damaging Het
Muc5ac T A 7: 141,361,098 (GRCm39) S1470T probably damaging Het
Neb A G 2: 52,183,638 (GRCm39) probably null Het
Odc1 T A 12: 17,598,312 (GRCm39) L151* probably null Het
Or4e1 A T 14: 52,700,788 (GRCm39) V226E probably damaging Het
Or51f23c-ps1 T C 7: 102,431,373 (GRCm39) I230T possibly damaging Het
Otof T A 5: 30,542,469 (GRCm39) Q693L probably benign Het
Pitpnm2 G A 5: 124,265,344 (GRCm39) S753F probably damaging Het
Pkd1l3 C A 8: 110,382,128 (GRCm39) S1632* probably null Het
Pkhd1l1 A G 15: 44,384,122 (GRCm39) T1171A possibly damaging Het
Plpp2 A G 10: 79,366,501 (GRCm39) F104L probably damaging Het
Pmaip1 A G 18: 66,596,370 (GRCm39) R80G probably damaging Het
Pms2 G A 5: 143,867,945 (GRCm39) V850I probably benign Het
Psmd5 G T 2: 34,747,794 (GRCm39) Q288K probably benign Het
Rab37 G A 11: 115,051,475 (GRCm39) R194H probably damaging Het
Sds C T 5: 120,621,677 (GRCm39) A273V probably damaging Het
Sema4f A G 6: 82,890,480 (GRCm39) S776P probably benign Het
Sh3tc2 T C 18: 62,101,101 (GRCm39) C65R probably benign Het
Siglece C T 7: 43,307,162 (GRCm39) R275H possibly damaging Het
Slc6a12 G A 6: 121,335,623 (GRCm39) A318T probably damaging Het
Smcr8 A T 11: 60,670,705 (GRCm39) I618L probably benign Het
Stt3a A G 9: 36,670,556 (GRCm39) F72L probably damaging Het
Tecpr1 T C 5: 144,154,049 (GRCm39) K135E possibly damaging Het
Tmem62 A G 2: 120,835,224 (GRCm39) I516M probably benign Het
Tnpo2 C A 8: 85,776,609 (GRCm39) H439N possibly damaging Het
Tut4 A T 4: 108,370,083 (GRCm39) K661* probably null Het
Txlnb C T 10: 17,718,570 (GRCm39) S467F probably damaging Het
Tyw5 G A 1: 57,435,948 (GRCm39) P81S probably damaging Het
Vamp2 A G 11: 68,980,585 (GRCm39) D51G possibly damaging Het
Vmn1r220 T A 13: 23,368,609 (GRCm39) Y29F probably benign Het
Vmn2r80 A G 10: 79,030,270 (GRCm39) T699A possibly damaging Het
Vps9d1 G A 8: 123,977,674 (GRCm39) T87I probably benign Het
Zfhx3 T C 8: 109,520,501 (GRCm39) V541A probably benign Het
Zmym4 A T 4: 126,809,415 (GRCm39) L295Q probably damaging Het
Other mutations in Hc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00694:Hc APN 2 34,881,641 (GRCm39) missense probably benign 0.00
IGL00922:Hc APN 2 34,881,680 (GRCm39) missense probably damaging 1.00
IGL01523:Hc APN 2 34,929,250 (GRCm39) missense probably benign 0.04
IGL01746:Hc APN 2 34,947,338 (GRCm39) missense probably damaging 0.98
IGL01793:Hc APN 2 34,918,202 (GRCm39) missense probably damaging 1.00
IGL01972:Hc APN 2 34,873,784 (GRCm39) missense probably damaging 1.00
IGL02037:Hc APN 2 34,903,531 (GRCm39) missense probably benign 0.16
IGL02048:Hc APN 2 34,886,039 (GRCm39) missense probably benign 0.00
IGL02227:Hc APN 2 34,899,923 (GRCm39) intron probably benign
IGL02230:Hc APN 2 34,903,682 (GRCm39) missense probably benign
IGL02254:Hc APN 2 34,874,836 (GRCm39) missense probably damaging 1.00
IGL02363:Hc APN 2 34,890,847 (GRCm39) missense probably benign
IGL02650:Hc APN 2 34,890,886 (GRCm39) missense possibly damaging 0.49
IGL03053:Hc APN 2 34,914,210 (GRCm39) missense probably benign 0.07
IGL03168:Hc APN 2 34,914,210 (GRCm39) missense probably benign 0.07
IGL03341:Hc APN 2 34,893,389 (GRCm39) missense probably damaging 0.98
PIT4142001:Hc UTSW 2 34,921,833 (GRCm39) splice site probably benign
PIT4378001:Hc UTSW 2 34,921,876 (GRCm39) missense probably benign 0.13
PIT4508001:Hc UTSW 2 34,874,816 (GRCm39) missense probably damaging 0.96
PIT4812001:Hc UTSW 2 34,919,464 (GRCm39) missense probably benign 0.16
R0025:Hc UTSW 2 34,876,304 (GRCm39) missense probably damaging 1.00
R0053:Hc UTSW 2 34,947,287 (GRCm39) missense probably benign 0.32
R0197:Hc UTSW 2 34,874,762 (GRCm39) missense probably damaging 1.00
R0218:Hc UTSW 2 34,918,086 (GRCm39) missense probably damaging 1.00
R0242:Hc UTSW 2 34,926,166 (GRCm39) splice site probably benign
R0496:Hc UTSW 2 34,903,583 (GRCm39) missense probably damaging 1.00
R1205:Hc UTSW 2 34,893,536 (GRCm39) missense possibly damaging 0.50
R1468:Hc UTSW 2 34,873,819 (GRCm39) nonsense probably null
R1468:Hc UTSW 2 34,873,819 (GRCm39) nonsense probably null
R1574:Hc UTSW 2 34,890,777 (GRCm39) intron probably benign
R1610:Hc UTSW 2 34,896,173 (GRCm39) missense probably benign 0.44
R1640:Hc UTSW 2 34,947,336 (GRCm39) nonsense probably null
R1887:Hc UTSW 2 34,924,623 (GRCm39) missense probably benign
R1920:Hc UTSW 2 34,919,407 (GRCm39) splice site probably benign
R2018:Hc UTSW 2 34,903,540 (GRCm39) missense probably damaging 1.00
R2019:Hc UTSW 2 34,903,540 (GRCm39) missense probably damaging 1.00
R2151:Hc UTSW 2 34,881,115 (GRCm39) intron probably benign
R2366:Hc UTSW 2 34,903,648 (GRCm39) missense probably benign
R4093:Hc UTSW 2 34,873,819 (GRCm39) nonsense probably null
R4288:Hc UTSW 2 34,920,414 (GRCm39) missense probably damaging 0.98
R4501:Hc UTSW 2 34,887,488 (GRCm39) splice site probably null
R4502:Hc UTSW 2 34,896,264 (GRCm39) missense probably benign 0.00
R4508:Hc UTSW 2 34,903,077 (GRCm39) missense possibly damaging 0.94
R4583:Hc UTSW 2 34,918,189 (GRCm39) missense probably benign 0.00
R4686:Hc UTSW 2 34,929,260 (GRCm39) missense possibly damaging 0.49
R4776:Hc UTSW 2 34,929,746 (GRCm39) missense probably benign 0.12
R4846:Hc UTSW 2 34,909,682 (GRCm39) missense probably benign 0.00
R5032:Hc UTSW 2 34,903,544 (GRCm39) missense probably benign 0.07
R5089:Hc UTSW 2 34,914,902 (GRCm39) missense probably benign 0.01
R5289:Hc UTSW 2 34,886,026 (GRCm39) critical splice donor site probably null
R5347:Hc UTSW 2 34,927,636 (GRCm39) missense probably benign 0.04
R5356:Hc UTSW 2 34,885,007 (GRCm39) missense probably benign 0.00
R5379:Hc UTSW 2 34,881,077 (GRCm39) missense probably damaging 1.00
R5403:Hc UTSW 2 34,947,446 (GRCm39) missense probably damaging 1.00
R5418:Hc UTSW 2 34,898,195 (GRCm39) critical splice donor site probably null
R5450:Hc UTSW 2 34,903,050 (GRCm39) missense possibly damaging 0.67
R5494:Hc UTSW 2 34,893,551 (GRCm39) splice site probably null
R5713:Hc UTSW 2 34,903,543 (GRCm39) missense probably damaging 0.99
R5898:Hc UTSW 2 34,887,449 (GRCm39) missense probably benign 0.06
R5925:Hc UTSW 2 34,920,462 (GRCm39) missense possibly damaging 0.92
R5942:Hc UTSW 2 34,918,137 (GRCm39) nonsense probably null
R5991:Hc UTSW 2 34,896,117 (GRCm39) missense possibly damaging 0.91
R6036:Hc UTSW 2 34,929,696 (GRCm39) missense probably benign 0.00
R6036:Hc UTSW 2 34,929,696 (GRCm39) missense probably benign 0.00
R6115:Hc UTSW 2 34,903,050 (GRCm39) missense probably damaging 1.00
R6234:Hc UTSW 2 34,918,058 (GRCm39) missense probably benign
R6264:Hc UTSW 2 34,896,285 (GRCm39) critical splice acceptor site probably null
R6313:Hc UTSW 2 34,879,851 (GRCm39) splice site probably null
R6525:Hc UTSW 2 34,881,236 (GRCm39) missense probably benign 0.06
R6577:Hc UTSW 2 34,922,138 (GRCm39) missense probably benign 0.00
R6601:Hc UTSW 2 34,935,906 (GRCm39) missense probably benign 0.03
R6916:Hc UTSW 2 34,900,044 (GRCm39) nonsense probably null
R7108:Hc UTSW 2 34,929,706 (GRCm39) missense probably benign 0.03
R7143:Hc UTSW 2 34,940,450 (GRCm39) missense probably benign 0.00
R7388:Hc UTSW 2 34,874,859 (GRCm39) splice site probably null
R7468:Hc UTSW 2 34,918,063 (GRCm39) missense probably benign 0.00
R7504:Hc UTSW 2 34,951,331 (GRCm39) missense not run
R7521:Hc UTSW 2 34,935,344 (GRCm39) missense possibly damaging 0.80
R7582:Hc UTSW 2 34,881,278 (GRCm39) missense possibly damaging 0.70
R7596:Hc UTSW 2 34,890,859 (GRCm39) missense probably damaging 0.96
R7599:Hc UTSW 2 34,940,431 (GRCm39) missense probably damaging 1.00
R7692:Hc UTSW 2 34,914,161 (GRCm39) missense probably damaging 1.00
R7853:Hc UTSW 2 34,900,045 (GRCm39) missense probably damaging 1.00
R7877:Hc UTSW 2 34,887,411 (GRCm39) nonsense probably null
R8329:Hc UTSW 2 34,902,910 (GRCm39) splice site probably null
R8375:Hc UTSW 2 34,873,731 (GRCm39) missense probably benign 0.32
R8477:Hc UTSW 2 34,879,182 (GRCm39) missense probably damaging 1.00
R8810:Hc UTSW 2 34,909,535 (GRCm39) missense probably benign 0.06
R8888:Hc UTSW 2 34,890,861 (GRCm39) missense probably benign 0.00
R8895:Hc UTSW 2 34,890,861 (GRCm39) missense probably benign 0.00
R8968:Hc UTSW 2 34,922,317 (GRCm39) missense possibly damaging 0.91
R8969:Hc UTSW 2 34,909,475 (GRCm39) critical splice donor site probably null
R9146:Hc UTSW 2 34,924,571 (GRCm39) missense probably damaging 1.00
R9340:Hc UTSW 2 34,876,294 (GRCm39) missense probably damaging 0.99
R9396:Hc UTSW 2 34,927,615 (GRCm39) nonsense probably null
R9569:Hc UTSW 2 34,926,359 (GRCm39) missense probably benign 0.00
R9576:Hc UTSW 2 34,873,767 (GRCm39) missense probably benign 0.01
R9706:Hc UTSW 2 34,914,196 (GRCm39) missense probably damaging 1.00
X0066:Hc UTSW 2 34,873,723 (GRCm39) missense probably damaging 1.00
Z1088:Hc UTSW 2 34,919,482 (GRCm39) missense probably benign 0.02
Z1088:Hc UTSW 2 34,898,261 (GRCm39) missense possibly damaging 0.94
Z1176:Hc UTSW 2 34,896,285 (GRCm39) critical splice acceptor site probably null
Z1177:Hc UTSW 2 34,903,622 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGATGGACCTAAGAGAGCATTTG -3'
(R):5'- TGCTCCAGCTCCAAATGGTG -3'

Sequencing Primer
(F):5'- GGAAAGATCACTTGTATGCGAC -3'
(R):5'- CTCCAAATGGTGCCCTAGTGAATAG -3'
Posted On 2022-02-07