Incidental Mutation 'IGL01818:C3ar1'
ID154449
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C3ar1
Ensembl Gene ENSMUSG00000040552
Gene Namecomplement component 3a receptor 1
SynonymsC3aR, anaphylatoxin C3a receptor
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01818
Quality Score
Status
Chromosome6
Chromosomal Location122847138-122856161 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 122850419 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 280 (N280D)
Ref Sequence ENSEMBL: ENSMUSP00000048092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042081]
Predicted Effect probably benign
Transcript: ENSMUST00000042081
AA Change: N280D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000048092
Gene: ENSMUSG00000040552
AA Change: N280D

DomainStartEndE-ValueType
Pfam:7tm_1 40 193 8.1e-25 PFAM
Pfam:7TM_GPCR_Srsx 281 443 7.8e-8 PFAM
Pfam:7tm_1 313 428 6.5e-17 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] C3a is an anaphylatoxin released during activation of the complement system. The protein encoded by this gene is an orphan G protein-coupled receptor for C3a. Binding of C3a by the encoded receptor activates chemotaxis, granule enzyme release, superoxide anion production, and bacterial opsonization. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous targeted mutants display protective effects against the changes in lung physiology after allergen challenge, increased lethality to endotoxin shock, and elevated IL1B following LPS challenge, supporting the role of C3arin proinflammatory responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AF529169 T C 9: 89,601,313 E677G probably damaging Het
Agrp T C 8: 105,567,386 D35G probably benign Het
Ccpg1 A G 9: 72,997,453 T15A probably damaging Het
Chmp7 A G 14: 69,719,167 V361A probably damaging Het
Dnmbp T A 19: 43,901,165 K721M probably damaging Het
Elmod3 T C 6: 72,586,507 E46G possibly damaging Het
Gm4922 T C 10: 18,784,953 D7G unknown Het
H2-T24 C A 17: 36,017,236 probably benign Het
Hal A T 10: 93,490,984 T161S probably damaging Het
Htr1d A G 4: 136,442,886 E142G probably benign Het
Mrps31 T C 8: 22,411,467 M1T probably null Het
Nckap1l T C 15: 103,478,282 L628P probably damaging Het
Oosp2 T C 19: 11,649,689 N90S probably benign Het
Pitpnm3 A G 11: 72,112,251 probably benign Het
Ppox A T 1: 171,280,744 I6K probably benign Het
Skint6 G T 4: 112,948,569 Q690K probably benign Het
Stat1 T C 1: 52,151,278 I564T probably damaging Het
Tiam1 T A 16: 89,867,704 I539F probably damaging Het
Tmem191c A G 16: 17,277,730 R35G possibly damaging Het
Trim30d A T 7: 104,472,060 C343S probably damaging Het
Trpm3 T C 19: 22,914,474 L736S probably damaging Het
Vmn2r73 T A 7: 85,869,901 probably benign Het
Other mutations in C3ar1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01936:C3ar1 APN 6 122851235 missense probably benign 0.04
IGL01998:C3ar1 APN 6 122850940 missense probably damaging 1.00
IGL02351:C3ar1 APN 6 122849975 missense probably damaging 1.00
IGL02358:C3ar1 APN 6 122849975 missense probably damaging 1.00
IGL02399:C3ar1 APN 6 122849879 missense probably benign 0.00
PIT4618001:C3ar1 UTSW 6 122850787 missense probably benign 0.25
R0014:C3ar1 UTSW 6 122850851 missense probably damaging 1.00
R0195:C3ar1 UTSW 6 122851155 missense possibly damaging 0.95
R0257:C3ar1 UTSW 6 122850787 missense probably benign 0.25
R0344:C3ar1 UTSW 6 122850772 missense probably benign 0.45
R4345:C3ar1 UTSW 6 122850700 missense probably damaging 1.00
R4614:C3ar1 UTSW 6 122850721 missense probably benign 0.00
R4643:C3ar1 UTSW 6 122850974 missense probably damaging 1.00
R4840:C3ar1 UTSW 6 122850764 missense probably benign
R5235:C3ar1 UTSW 6 122850922 missense probably damaging 1.00
R5303:C3ar1 UTSW 6 122849835 missense probably damaging 1.00
R5610:C3ar1 UTSW 6 122850578 missense probably benign 0.01
R5762:C3ar1 UTSW 6 122850362 missense probably benign 0.07
R5873:C3ar1 UTSW 6 122850422 missense probably benign 0.24
R5877:C3ar1 UTSW 6 122850622 missense probably benign 0.17
R6327:C3ar1 UTSW 6 122850146 missense probably damaging 1.00
R6440:C3ar1 UTSW 6 122850508 missense probably damaging 0.99
R6505:C3ar1 UTSW 6 122850640 missense probably benign 0.03
R6636:C3ar1 UTSW 6 122851054 missense probably damaging 1.00
R6755:C3ar1 UTSW 6 122849858 missense probably benign 0.00
R6953:C3ar1 UTSW 6 122850632 missense possibly damaging 0.49
R8049:C3ar1 UTSW 6 122850100 missense probably damaging 0.97
X0065:C3ar1 UTSW 6 122850765 missense probably benign 0.00
Posted On2014-02-04