Incidental Mutation 'R5032:Hc'
ID 391728
Institutional Source Beutler Lab
Gene Symbol Hc
Ensembl Gene ENSMUSG00000026874
Gene Name hemolytic complement
Synonyms C5, Hfib2, He, C5a
MMRRC Submission 042623-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.492) question?
Stock # R5032 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 34873343-34951450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34903544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1037 (I1037V)
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 benign
Transcript: ENSMUST00000028233
AA Change: I1037V

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000028233
Gene: ENSMUSG00000026874
AA Change: I1037V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153559
Predicted Effect probably benign
Transcript: ENSMUST00000156412
Meta Mutation Damage Score 0.1108 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.0%
Validation Efficiency 97% (77/79)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Actl9 A G 17: 33,653,062 (GRCm39) N374S probably benign Het
Adam34l T C 8: 44,079,508 (GRCm39) N239D probably damaging Het
Ahcyl2 T A 6: 29,768,555 (GRCm39) probably benign Het
Arfgef2 T C 2: 166,720,464 (GRCm39) M1501T probably benign Het
Asb17 A T 3: 153,550,175 (GRCm39) D69V probably damaging Het
Atp13a5 T C 16: 29,082,202 (GRCm39) Y877C probably damaging Het
Atrip T C 9: 108,894,271 (GRCm39) Q64R probably benign Het
Auts2 A G 5: 131,505,730 (GRCm39) probably benign Het
Cacna2d1 G T 5: 16,564,068 (GRCm39) R893L probably damaging Het
Ccdc138 C T 10: 58,409,458 (GRCm39) R596C probably damaging Het
Cd163 A G 6: 124,288,628 (GRCm39) Y353C probably damaging Het
Cdon T C 9: 35,400,330 (GRCm39) Y1015H probably damaging Het
Chsy3 T C 18: 59,312,543 (GRCm39) Y339H probably damaging Het
Cspp1 T C 1: 10,136,744 (GRCm39) W190R probably benign Het
Ddx1 A T 12: 13,273,993 (GRCm39) I570N probably damaging Het
Duox1 G A 2: 122,167,798 (GRCm39) R1027H probably benign Het
Dync1h1 C T 12: 110,593,326 (GRCm39) Q1198* probably null Het
Ecel1 G A 1: 87,081,975 (GRCm39) S246L probably damaging Het
Fam228b T G 12: 4,813,042 (GRCm39) R109S probably damaging Het
Fut9 T A 4: 25,799,245 (GRCm39) probably benign Het
Gm5592 A G 7: 40,939,159 (GRCm39) R814G probably damaging Het
Gmps A G 3: 63,897,746 (GRCm39) K233E probably benign Het
Gramd1c A G 16: 43,811,026 (GRCm39) Y438H probably damaging Het
Gsdmc A T 15: 63,673,882 (GRCm39) D134E possibly damaging Het
Gxylt2 A G 6: 100,760,142 (GRCm39) I226V probably benign Het
Hspa4 T G 11: 53,179,950 (GRCm39) R69S possibly damaging Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Kifc3 A G 8: 95,829,354 (GRCm39) S508P probably damaging Het
Krt7 G A 15: 101,310,428 (GRCm39) R25H probably benign Het
Lhfpl6 T A 3: 52,950,854 (GRCm39) S43T possibly damaging Het
Lrrc7 T A 3: 157,887,217 (GRCm39) K394N possibly damaging Het
Lypd4 A T 7: 24,566,240 (GRCm39) L28Q probably damaging Het
Mdc1 A G 17: 36,161,481 (GRCm39) E798G probably benign Het
Mta1 T A 12: 113,097,145 (GRCm39) probably null Het
Mtg2 A T 2: 179,725,183 (GRCm39) Q132L possibly damaging Het
Myh1 G T 11: 67,096,874 (GRCm39) E382* probably null Het
Myo3a T C 2: 22,287,413 (GRCm39) L175P probably damaging Het
Nckap5 A T 1: 125,904,786 (GRCm39) F144L possibly damaging Het
Nfrkb T A 9: 31,300,351 (GRCm39) probably null Het
Nmt2 C T 2: 3,285,429 (GRCm39) P5L probably benign Het
Nsmf T C 2: 24,945,073 (GRCm39) probably null Het
Oprl1 C T 2: 181,360,795 (GRCm39) R257C probably damaging Het
Or51q1 A T 7: 103,628,581 (GRCm39) M61L probably damaging Het
Or5a1 T A 19: 12,097,420 (GRCm39) I219F probably benign Het
Pcdhgc3 T A 18: 37,940,638 (GRCm39) N346K probably damaging Het
Pcnt G A 10: 76,190,911 (GRCm39) P2791S probably benign Het
Pdia3 A G 2: 121,244,620 (GRCm39) N11S probably benign Het
Pik3c2g A T 6: 139,841,928 (GRCm39) T778S probably benign Het
Pik3ip1 T A 11: 3,283,520 (GRCm39) I75N probably damaging Het
Pla2g4d A T 2: 120,112,176 (GRCm39) Y118* probably null Het
Ppargc1b A G 18: 61,440,336 (GRCm39) S845P probably damaging Het
Prdm2 A T 4: 142,905,937 (GRCm39) L50* probably null Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pxdn G A 12: 30,053,140 (GRCm39) V926I probably benign Het
Rab11fip2 A T 19: 59,925,799 (GRCm39) N139K probably damaging Het
Rcn2 T A 9: 55,960,300 (GRCm39) M189K probably damaging Het
Rev1 A T 1: 38,113,570 (GRCm39) probably benign Het
Rhbg C A 3: 88,152,441 (GRCm39) G368C probably damaging Het
Rnf214 A G 9: 45,811,042 (GRCm39) probably null Het
Sf3a3 T C 4: 124,618,959 (GRCm39) S307P probably benign Het
Slc6a18 T A 13: 73,814,442 (GRCm39) Y494F probably damaging Het
Son T C 16: 91,454,552 (GRCm39) S1100P probably damaging Het
Spag16 T G 1: 69,892,511 (GRCm39) N97K probably benign Het
Tmem192 T C 8: 65,412,163 (GRCm39) V114A possibly damaging Het
Urb1 G T 16: 90,553,059 (GRCm39) P1901T probably benign Het
Vwa5b2 A G 16: 20,419,459 (GRCm39) T601A probably damaging Het
Wdtc1 G T 4: 133,036,162 (GRCm39) T126K possibly damaging Het
Xirp2 T C 2: 67,356,014 (GRCm39) Y3592H possibly damaging Het
Xylt2 A T 11: 94,560,842 (GRCm39) V232E 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
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
R9218:Hc UTSW 2 34,922,203 (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'- TGGTAAGTTAAGCCAAAATGCCTC -3'
(R):5'- GTTACGTCCACTTGGGTCTC -3'

Sequencing Primer
(F):5'- AAGAGAACATGCCGTGGTTTTTC -3'
(R):5'- CTTTTTCTTTCAGGACTGCTTGTAG -3'
Posted On 2016-06-06