Incidental Mutation 'R5235:C3ar1'
ID 398295
Institutional Source Beutler Lab
Gene Symbol C3ar1
Ensembl Gene ENSMUSG00000040552
Gene Name complement component 3a receptor 1
Synonyms C3aR, anaphylatoxin C3a receptor
MMRRC Submission 042807-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5235 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 122824099-122833116 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122827881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 112 (L112P)
Ref Sequence ENSEMBL: ENSMUSP00000048092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042081]
AlphaFold O09047
Predicted Effect probably damaging
Transcript: ENSMUST00000042081
AA Change: L112P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048092
Gene: ENSMUSG00000040552
AA Change: L112P

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C A 7: 41,274,256 (GRCm39) H126Q possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Aga A G 8: 53,967,361 (GRCm39) H124R probably damaging Het
Ank1 G A 8: 23,572,212 (GRCm39) G49R probably damaging Het
Aox1 G T 1: 58,096,714 (GRCm39) V270L possibly damaging Het
Arfrp1 T C 2: 181,001,298 (GRCm39) H145R probably benign Het
Atg14 G A 14: 47,805,656 (GRCm39) R70C probably damaging Het
Atg3 A G 16: 44,979,520 (GRCm39) T20A probably benign Het
Clip2 G A 5: 134,551,645 (GRCm39) T159M possibly damaging Het
Csmd3 T C 15: 47,492,674 (GRCm39) T3156A probably benign Het
Dag1 T C 9: 108,084,897 (GRCm39) Y748C probably damaging Het
Dek A T 13: 47,239,955 (GRCm39) probably null Het
Fras1 G A 5: 96,748,609 (GRCm39) V695M probably benign Het
Gpx7 A G 4: 108,258,189 (GRCm39) S135P probably damaging Het
Ido2 A T 8: 25,037,202 (GRCm39) I168N probably damaging Het
Lca5 A T 9: 83,305,107 (GRCm39) L233* probably null Het
Liph A C 16: 21,802,785 (GRCm39) L95V probably damaging Het
Mast1 A T 8: 85,640,068 (GRCm39) L1113Q probably damaging Het
Nlrx1 C T 9: 44,175,047 (GRCm39) G243D probably damaging Het
Or4ac1-ps1 G A 2: 88,370,769 (GRCm39) noncoding transcript Het
Or5d40 T A 2: 88,015,912 (GRCm39) D230E probably benign Het
Otoa T C 7: 120,755,693 (GRCm39) L1033P probably damaging Het
Ovol3 A T 7: 29,932,899 (GRCm39) Y179N possibly damaging Het
Papss2 A G 19: 32,616,619 (GRCm39) N215S probably benign Het
Pcdhga8 T C 18: 37,860,488 (GRCm39) Y515H probably damaging Het
Phlda1 CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC CCAGCCCCAACCTCAGCCCCAACC 10: 111,343,252 (GRCm39) probably benign Het
Scn2a A T 2: 65,582,355 (GRCm39) N1568Y probably damaging Het
Sec16b A T 1: 157,362,334 (GRCm39) I251F probably benign Het
Slc29a4 T A 5: 142,704,523 (GRCm39) I355N probably damaging Het
Snx29 G T 16: 11,231,110 (GRCm39) C39F possibly damaging Het
Spata16 A G 3: 26,721,781 (GRCm39) M101V probably benign Het
Stat2 T C 10: 128,126,901 (GRCm39) probably null Het
Tdpoz8 A G 3: 92,981,393 (GRCm39) D137G probably damaging Het
Tnrc6c G T 11: 117,651,555 (GRCm39) V1693F probably benign Het
Tpm3 A G 3: 89,993,802 (GRCm39) E97G probably damaging Het
Ugt8a A C 3: 125,661,129 (GRCm39) H454Q probably damaging Het
Vmn2r27 T A 6: 124,169,013 (GRCm39) I706L probably damaging Het
Wdfy3 T C 5: 101,994,972 (GRCm39) I3256V probably null Het
Other mutations in C3ar1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01818:C3ar1 APN 6 122,827,378 (GRCm39) missense probably benign 0.00
IGL01936:C3ar1 APN 6 122,828,194 (GRCm39) missense probably benign 0.04
IGL01998:C3ar1 APN 6 122,827,899 (GRCm39) missense probably damaging 1.00
IGL02351:C3ar1 APN 6 122,826,934 (GRCm39) missense probably damaging 1.00
IGL02358:C3ar1 APN 6 122,826,934 (GRCm39) missense probably damaging 1.00
IGL02399:C3ar1 APN 6 122,826,838 (GRCm39) missense probably benign 0.00
PIT4618001:C3ar1 UTSW 6 122,827,746 (GRCm39) missense probably benign 0.25
R0014:C3ar1 UTSW 6 122,827,810 (GRCm39) missense probably damaging 1.00
R0195:C3ar1 UTSW 6 122,828,114 (GRCm39) missense possibly damaging 0.95
R0257:C3ar1 UTSW 6 122,827,746 (GRCm39) missense probably benign 0.25
R0344:C3ar1 UTSW 6 122,827,731 (GRCm39) missense probably benign 0.45
R4345:C3ar1 UTSW 6 122,827,659 (GRCm39) missense probably damaging 1.00
R4614:C3ar1 UTSW 6 122,827,680 (GRCm39) missense probably benign 0.00
R4643:C3ar1 UTSW 6 122,827,933 (GRCm39) missense probably damaging 1.00
R4840:C3ar1 UTSW 6 122,827,723 (GRCm39) missense probably benign
R5303:C3ar1 UTSW 6 122,826,794 (GRCm39) missense probably damaging 1.00
R5610:C3ar1 UTSW 6 122,827,537 (GRCm39) missense probably benign 0.01
R5762:C3ar1 UTSW 6 122,827,321 (GRCm39) missense probably benign 0.07
R5873:C3ar1 UTSW 6 122,827,381 (GRCm39) missense probably benign 0.24
R5877:C3ar1 UTSW 6 122,827,581 (GRCm39) missense probably benign 0.17
R6327:C3ar1 UTSW 6 122,827,105 (GRCm39) missense probably damaging 1.00
R6440:C3ar1 UTSW 6 122,827,467 (GRCm39) missense probably damaging 0.99
R6505:C3ar1 UTSW 6 122,827,599 (GRCm39) missense probably benign 0.03
R6636:C3ar1 UTSW 6 122,828,013 (GRCm39) missense probably damaging 1.00
R6755:C3ar1 UTSW 6 122,826,817 (GRCm39) missense probably benign 0.00
R6953:C3ar1 UTSW 6 122,827,591 (GRCm39) missense possibly damaging 0.49
R7985:C3ar1 UTSW 6 122,826,964 (GRCm39) missense probably damaging 1.00
R8049:C3ar1 UTSW 6 122,827,059 (GRCm39) missense probably damaging 0.97
R8936:C3ar1 UTSW 6 122,828,044 (GRCm39) missense probably damaging 0.97
R9337:C3ar1 UTSW 6 122,827,278 (GRCm39) missense probably benign 0.00
X0065:C3ar1 UTSW 6 122,827,724 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCGATTGTCCATAATGAACAGATC -3'
(R):5'- ATTGGGACTGCTAGGCAATGG -3'

Sequencing Primer
(F):5'- TCACGGTATACAAATACGGGC -3'
(R):5'- ATGAAGACGACCGTGAACAC -3'
Posted On 2016-07-06