Incidental Mutation 'R9569:Hc'
ID 721808
Institutional Source Beutler Lab
Gene Symbol Hc
Ensembl Gene ENSMUSG00000026874
Gene Name hemolytic complement
Synonyms He, C5, C5a
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.580) question?
Stock # R9569 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 34983331-35061438 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35036347 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 342 (I342V)
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: I342V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028233
Gene: ENSMUSG00000026874
AA Change: I342V

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: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik G C 4: 42,971,740 V358L probably benign Het
4932438A13Rik T C 3: 37,012,621 M211T Het
Abi2 T A 1: 60,464,604 V356D probably damaging Het
Adgrd1 T C 5: 129,179,637 V690A possibly damaging Het
Apba2 T C 7: 64,743,390 M553T possibly damaging Het
Apeh C T 9: 108,094,410 V13M unknown Het
Apol11b C T 15: 77,640,571 E5K possibly damaging Het
Apol7e C T 15: 77,717,733 T177I probably damaging Het
Bub1b T C 2: 118,638,403 I883T probably damaging Het
C9 T C 15: 6,459,581 S140P probably damaging Het
Cbfa2t2 T A 2: 154,504,565 I64N probably benign Het
Cd180 A T 13: 102,705,978 I511F possibly damaging Het
Cic T C 7: 25,272,695 V617A possibly damaging Het
Clca3a2 A C 3: 144,807,314 probably null Het
D5Ertd579e T C 5: 36,602,635 T1394A probably damaging Het
Dclk1 A T 3: 55,480,431 E422D probably benign Het
Depdc5 A T 5: 32,867,977 D21V probably damaging Het
Dis3l A G 9: 64,329,547 F40S unknown Het
Duox1 T C 2: 122,318,490 V82A probably benign Het
Dus2 T C 8: 106,044,875 V211A probably damaging Het
Eif2ak4 G A 2: 118,420,835 S326N probably benign Het
Fat3 A C 9: 15,919,199 L153R Het
Gpx8 C T 13: 113,045,591 V103I probably damaging Het
Gtf2a1l A G 17: 88,694,520 D268G probably benign Het
Hsp90ab1 T A 17: 45,568,952 D546V possibly damaging Het
Ifi206 T G 1: 173,486,643 D77A Het
Igfbp1 A G 11: 7,197,881 probably benign Het
Kdm3a T C 6: 71,607,450 D559G probably benign Het
Kif2a A G 13: 106,968,738 I565T probably benign Het
Krt2 T C 15: 101,816,489 T229A probably damaging Het
Lcmt2 G A 2: 121,140,041 A187V probably damaging Het
Mapk8ip1 A G 2: 92,387,254 M241T probably benign Het
Mup15 T C 4: 61,439,638 probably benign Het
Myo9b T C 8: 71,358,985 V1912A probably benign Het
Naip5 T A 13: 100,219,830 E1092D probably benign Het
Naip5 T C 13: 100,223,313 T472A probably benign Het
Net1 A G 13: 3,888,518 F123S probably benign Het
Olfr183 A G 16: 58,999,865 Y60C probably damaging Het
Olfr335-ps T C 2: 36,301,934 Y132H probably damaging Het
Olfr666 C T 7: 104,893,318 M103I possibly damaging Het
Pcdhb13 T C 18: 37,443,100 F177S probably damaging Het
Pclo T C 5: 14,857,051 probably null Het
Perm1 A G 4: 156,218,582 T528A probably benign Het
Pik3c2a C T 7: 116,358,704 A1116T possibly damaging Het
Prox2 G A 12: 85,094,992 Q146* probably null Het
Psd A T 19: 46,320,278 C639S possibly damaging Het
Rffl T A 11: 82,812,438 T220S probably benign Het
Scn2a A G 2: 65,730,278 D1284G probably damaging Het
Scube1 T C 15: 83,629,404 Y385C probably damaging Het
Sec14l3 A T 11: 4,076,324 D388V probably damaging Het
Slc26a1 G T 5: 108,671,594 Q596K probably benign Het
Slc6a19 T C 13: 73,685,911 T343A probably benign Het
Slc7a4 A G 16: 17,575,398 V179A Het
Sox14 T G 9: 99,875,509 D49A Het
Timm22 A G 11: 76,407,370 S56G probably benign Het
Tmub2 G A 11: 102,288,327 W322* probably null Het
Tsc22d4 A G 5: 137,758,166 T8A probably benign Het
Ttn T C 2: 76,709,308 I34445V probably benign Het
Tyms A T 5: 30,063,362 Y196* probably null Het
Ube2o G A 11: 116,543,997 T546M probably damaging Het
Umodl1 A G 17: 30,998,169 Y1125C probably damaging Het
Unc13b CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC 4: 43,177,312 probably benign Het
Unk A T 11: 116,059,209 Q747L probably damaging Het
Vmn1r170 A G 7: 23,606,869 E232G probably benign Het
Vps41 A G 13: 18,829,226 Y338C possibly damaging Het
Washc5 T C 15: 59,344,131 M800V probably benign Het
Wt1 T A 2: 105,163,366 I348N possibly damaging Het
Xirp2 A G 2: 67,510,898 Y1161C probably damaging Het
Xpo7 A G 14: 70,668,700 M1001T possibly damaging Het
Yeats2 A T 16: 20,154,152 R19W probably damaging Het
Zfp142 T C 1: 74,576,227 T476A probably damaging Het
Zfp229 T C 17: 21,745,592 W268R possibly damaging Het
Zfp473 A G 7: 44,739,547 F50S probably damaging Het
Zfp975 A T 7: 42,661,989 M400K probably benign Het
Zkscan5 A G 5: 145,207,609 M150V probably benign Het
Znfx1 T A 2: 167,055,955 I350F Het
Other mutations in Hc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00694:Hc APN 2 34991629 missense probably benign 0.00
IGL00922:Hc APN 2 34991668 missense probably damaging 1.00
IGL01523:Hc APN 2 35039238 missense probably benign 0.04
IGL01746:Hc APN 2 35057326 missense probably damaging 0.98
IGL01793:Hc APN 2 35028190 missense probably damaging 1.00
IGL01972:Hc APN 2 34983772 missense probably damaging 1.00
IGL02037:Hc APN 2 35013519 missense probably benign 0.16
IGL02048:Hc APN 2 34996027 missense probably benign 0.00
IGL02227:Hc APN 2 35009911 intron probably benign
IGL02230:Hc APN 2 35013670 missense probably benign
IGL02254:Hc APN 2 34984824 missense probably damaging 1.00
IGL02363:Hc APN 2 35000835 missense probably benign
IGL02650:Hc APN 2 35000874 missense possibly damaging 0.49
IGL03053:Hc APN 2 35024198 missense probably benign 0.07
IGL03168:Hc APN 2 35024198 missense probably benign 0.07
IGL03341:Hc APN 2 35003377 missense probably damaging 0.98
PIT4142001:Hc UTSW 2 35031821 splice site probably benign
PIT4378001:Hc UTSW 2 35031864 missense probably benign 0.13
PIT4508001:Hc UTSW 2 34984804 missense probably damaging 0.96
PIT4812001:Hc UTSW 2 35029452 missense probably benign 0.16
R0025:Hc UTSW 2 34986292 missense probably damaging 1.00
R0053:Hc UTSW 2 35057275 missense probably benign 0.32
R0197:Hc UTSW 2 34984750 missense probably damaging 1.00
R0218:Hc UTSW 2 35028074 missense probably damaging 1.00
R0242:Hc UTSW 2 35036154 splice site probably benign
R0496:Hc UTSW 2 35013571 missense probably damaging 1.00
R1205:Hc UTSW 2 35003524 missense possibly damaging 0.50
R1468:Hc UTSW 2 34983807 nonsense probably null
R1468:Hc UTSW 2 34983807 nonsense probably null
R1574:Hc UTSW 2 35000765 intron probably benign
R1610:Hc UTSW 2 35006161 missense probably benign 0.44
R1640:Hc UTSW 2 35057324 nonsense probably null
R1887:Hc UTSW 2 35034611 missense probably benign
R1920:Hc UTSW 2 35029395 splice site probably benign
R2018:Hc UTSW 2 35013528 missense probably damaging 1.00
R2019:Hc UTSW 2 35013528 missense probably damaging 1.00
R2151:Hc UTSW 2 34991103 intron probably benign
R2366:Hc UTSW 2 35013636 missense probably benign
R4093:Hc UTSW 2 34983807 nonsense probably null
R4288:Hc UTSW 2 35030402 missense probably damaging 0.98
R4501:Hc UTSW 2 34997476 splice site probably null
R4502:Hc UTSW 2 35006252 missense probably benign 0.00
R4508:Hc UTSW 2 35013065 missense possibly damaging 0.94
R4583:Hc UTSW 2 35028177 missense probably benign 0.00
R4686:Hc UTSW 2 35039248 missense possibly damaging 0.49
R4776:Hc UTSW 2 35039734 missense probably benign 0.12
R4846:Hc UTSW 2 35019670 missense probably benign 0.00
R5032:Hc UTSW 2 35013532 missense probably benign 0.07
R5089:Hc UTSW 2 35024890 missense probably benign 0.01
R5289:Hc UTSW 2 34996014 critical splice donor site probably null
R5347:Hc UTSW 2 35037624 missense probably benign 0.04
R5356:Hc UTSW 2 34994995 missense probably benign 0.00
R5379:Hc UTSW 2 34991065 missense probably damaging 1.00
R5403:Hc UTSW 2 35057434 missense probably damaging 1.00
R5418:Hc UTSW 2 35008183 critical splice donor site probably null
R5450:Hc UTSW 2 35013038 missense possibly damaging 0.67
R5494:Hc UTSW 2 35003539 splice site probably null
R5713:Hc UTSW 2 35013531 missense probably damaging 0.99
R5898:Hc UTSW 2 34997437 missense probably benign 0.06
R5925:Hc UTSW 2 35030450 missense possibly damaging 0.92
R5942:Hc UTSW 2 35028125 nonsense probably null
R5991:Hc UTSW 2 35006105 missense possibly damaging 0.91
R6036:Hc UTSW 2 35039684 missense probably benign 0.00
R6036:Hc UTSW 2 35039684 missense probably benign 0.00
R6115:Hc UTSW 2 35013038 missense probably damaging 1.00
R6234:Hc UTSW 2 35028046 missense probably benign
R6264:Hc UTSW 2 35006273 critical splice acceptor site probably null
R6313:Hc UTSW 2 34989839 splice site probably null
R6525:Hc UTSW 2 34991224 missense probably benign 0.06
R6577:Hc UTSW 2 35032126 missense probably benign 0.00
R6601:Hc UTSW 2 35045894 missense probably benign 0.03
R6916:Hc UTSW 2 35010032 nonsense probably null
R7108:Hc UTSW 2 35039694 missense probably benign 0.03
R7143:Hc UTSW 2 35050438 missense probably benign 0.00
R7388:Hc UTSW 2 34984847 splice site probably null
R7468:Hc UTSW 2 35028051 missense probably benign 0.00
R7504:Hc UTSW 2 35061319 missense not run
R7521:Hc UTSW 2 35045332 missense possibly damaging 0.80
R7582:Hc UTSW 2 34991266 missense possibly damaging 0.70
R7596:Hc UTSW 2 35000847 missense probably damaging 0.96
R7599:Hc UTSW 2 35050419 missense probably damaging 1.00
R7692:Hc UTSW 2 35024149 missense probably damaging 1.00
R7853:Hc UTSW 2 35010033 missense probably damaging 1.00
R7877:Hc UTSW 2 34997399 nonsense probably null
R8329:Hc UTSW 2 35012898 splice site probably null
R8375:Hc UTSW 2 34983719 missense probably benign 0.32
R8477:Hc UTSW 2 34989170 missense probably damaging 1.00
R8810:Hc UTSW 2 35019523 missense probably benign 0.06
R8888:Hc UTSW 2 35000849 missense probably benign 0.00
R8895:Hc UTSW 2 35000849 missense probably benign 0.00
R8968:Hc UTSW 2 35032305 missense possibly damaging 0.91
R8969:Hc UTSW 2 35019463 critical splice donor site probably null
R9146:Hc UTSW 2 35034559 missense probably damaging 1.00
R9218:Hc UTSW 2 35032191 missense probably damaging 1.00
R9340:Hc UTSW 2 34986282 missense probably damaging 0.99
R9396:Hc UTSW 2 35037603 nonsense probably null
R9576:Hc UTSW 2 34983755 missense probably benign 0.01
R9706:Hc UTSW 2 35024184 missense probably damaging 1.00
X0066:Hc UTSW 2 34983711 missense probably damaging 1.00
Z1088:Hc UTSW 2 35008249 missense possibly damaging 0.94
Z1088:Hc UTSW 2 35029470 missense probably benign 0.02
Z1176:Hc UTSW 2 35006273 critical splice acceptor site probably null
Z1177:Hc UTSW 2 35013610 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGCCTGTTTGCCAGAAC -3'
(R):5'- TCTACAGGCGCTTTGGAAG -3'

Sequencing Primer
(F):5'- GCCTGTTTGCCAGAACAATTCAG -3'
(R):5'- TGGAAGCTCCCGACTCTTG -3'
Posted On 2022-08-09