Incidental Mutation 'R0344:C3ar1'
ID 26432
Institutional Source Beutler Lab
Gene Symbol C3ar1
Ensembl Gene ENSMUSG00000040552
Gene Name complement component 3a receptor 1
Synonyms C3aR, anaphylatoxin C3a receptor
MMRRC Submission 038551-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0344 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 122824099-122833116 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122827731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 162 (D162G)
Ref Sequence ENSEMBL: ENSMUSP00000048092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042081]
AlphaFold O09047
Predicted Effect probably benign
Transcript: ENSMUST00000042081
AA Change: D162G

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000048092
Gene: ENSMUSG00000040552
AA Change: D162G

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.3%
  • 20x: 93.6%
Validation Efficiency 99% (81/82)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553J12Rik T A 16: 88,617,189 (GRCm39) C29* probably null Het
Abca4 G A 3: 121,877,613 (GRCm39) C324Y probably damaging Het
Ablim2 T G 5: 35,994,277 (GRCm39) probably benign Het
Abr A T 11: 76,369,870 (GRCm39) V115E probably damaging Het
Adgrl2 C T 3: 148,571,231 (GRCm39) probably null Het
Aff3 A T 1: 38,243,013 (GRCm39) S936T probably benign Het
Agap3 T C 5: 24,656,200 (GRCm39) probably benign Het
Ahrr T A 13: 74,362,705 (GRCm39) S393C probably damaging Het
Amfr T C 8: 94,713,998 (GRCm39) probably null Het
Ankrd26 C A 6: 118,484,598 (GRCm39) probably null Het
Asxl3 G A 18: 22,650,668 (GRCm39) V886I probably benign Het
Atp5f1a C A 18: 77,867,895 (GRCm39) N356K probably damaging Het
AU021092 A T 16: 5,040,031 (GRCm39) M31K possibly damaging Het
Bicral A G 17: 47,124,978 (GRCm39) probably benign Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Camkk2 C T 5: 122,901,940 (GRCm39) C123Y probably benign Het
Casp8ap2 A T 4: 32,644,079 (GRCm39) I1051F probably damaging Het
Catsperg1 A T 7: 28,894,965 (GRCm39) V544E probably damaging Het
Cdc27 G A 11: 104,417,817 (GRCm39) probably benign Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Dennd6b T C 15: 89,080,432 (GRCm39) Q56R probably benign Het
Dmac2l T C 12: 69,787,663 (GRCm39) probably benign Het
Fbxl17 G A 17: 63,692,062 (GRCm39) probably benign Het
Fubp1 T C 3: 151,925,350 (GRCm39) V164A probably damaging Het
Gdap2 G A 3: 100,085,572 (GRCm39) G165S probably damaging Het
Gns A G 10: 121,219,328 (GRCm39) K352E probably benign Het
Gtf2ird2 C T 5: 134,220,088 (GRCm39) T22M probably damaging Het
Herc3 A G 6: 58,845,613 (GRCm39) probably benign Het
Hp1bp3 C T 4: 137,964,520 (GRCm39) S348F probably damaging Het
Inpp1 A T 1: 52,838,513 (GRCm39) F45L probably damaging Het
Ipo4 T C 14: 55,863,399 (GRCm39) Q1073R possibly damaging Het
Itgae A G 11: 73,008,973 (GRCm39) K485E probably benign Het
Jak2 G A 19: 29,261,029 (GRCm39) V342I probably damaging Het
Kptn C A 7: 15,859,666 (GRCm39) Q297K probably damaging Het
Lims2 A G 18: 32,077,573 (GRCm39) E103G probably benign Het
Mthfr C G 4: 148,139,885 (GRCm39) S618W probably damaging Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Nup133 A G 8: 124,644,185 (GRCm39) V727A possibly damaging Het
Oas2 T G 5: 120,881,152 (GRCm39) E313A probably damaging Het
Or10d4c G A 9: 39,558,646 (GRCm39) C208Y probably damaging Het
Or52b2 C A 7: 104,986,814 (GRCm39) M36I probably benign Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5m8 T A 2: 85,822,726 (GRCm39) C188* probably null Het
Or5p63 A T 7: 107,810,949 (GRCm39) Y262* probably null Het
Park7 A G 4: 150,992,806 (GRCm39) V20A possibly damaging Het
Pgap4 T C 4: 49,586,566 (GRCm39) T201A probably benign Het
Phldb1 C A 9: 44,612,964 (GRCm39) V919L probably benign Het
Pkhd1l1 C A 15: 44,460,407 (GRCm39) H4205Q probably benign Het
Plekhg3 G T 12: 76,613,040 (GRCm39) E449* probably null Het
Pramel26 A T 4: 143,537,338 (GRCm39) I331N probably damaging Het
Pstpip1 T C 9: 56,033,929 (GRCm39) V301A probably benign Het
Ptdss1 G A 13: 67,081,636 (GRCm39) R22H probably damaging Het
Ptprq A G 10: 107,541,443 (GRCm39) V361A probably benign Het
Ralgapa2 A T 2: 146,188,714 (GRCm39) V1309E possibly damaging Het
Rere T C 4: 150,695,438 (GRCm39) probably benign Het
Sbk3 T A 7: 4,970,404 (GRCm39) T322S possibly damaging Het
Scn9a T A 2: 66,335,354 (GRCm39) I1203L probably damaging Het
Setdb1 A T 3: 95,233,442 (GRCm39) probably benign Het
Sik3 C A 9: 46,120,109 (GRCm39) Q683K probably damaging Het
Slc24a5 A G 2: 124,927,621 (GRCm39) I307V probably benign Het
Smg6 A G 11: 74,820,647 (GRCm39) D306G probably damaging Het
Snx13 G A 12: 35,136,899 (GRCm39) W120* probably null Het
Snx5 A G 2: 144,099,128 (GRCm39) probably benign Het
Srsf5 T C 12: 80,994,298 (GRCm39) S76P probably benign Het
Stard6 A G 18: 70,629,186 (GRCm39) D31G probably damaging Het
Taf3 A G 2: 9,956,709 (GRCm39) M333T probably benign Het
Taf6 T G 5: 138,179,409 (GRCm39) I377L probably benign Het
Taf8 G T 17: 47,804,505 (GRCm39) N252K probably benign Het
Tfap2c A G 2: 172,393,423 (GRCm39) T113A probably benign Het
Tmtc4 C T 14: 123,215,572 (GRCm39) V25M probably damaging Het
Topbp1 T A 9: 103,205,886 (GRCm39) D841E probably damaging Het
Topbp1 T A 9: 103,185,932 (GRCm39) probably benign Het
Ttn A T 2: 76,542,833 (GRCm39) D33384E probably damaging Het
Unc13c T C 9: 73,838,067 (GRCm39) E928G probably benign Het
Vav1 T C 17: 57,603,090 (GRCm39) F81L probably damaging Het
Vmn2r63 A G 7: 42,553,042 (GRCm39) I738T probably damaging Het
Vmn2r87 C T 10: 130,315,806 (GRCm39) E87K probably damaging Het
Zfp229 A T 17: 21,964,822 (GRCm39) M351L probably benign 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
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
R5235:C3ar1 UTSW 6 122,827,881 (GRCm39) missense probably damaging 1.00
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'- AGAGGAAGGAGCTGACCTGTCATTC -3'
(R):5'- GCTCACCTGATTCTCCAAGGACAC -3'

Sequencing Primer
(F):5'- GACCTGTCATTCATATGTCCAGTTAG -3'
(R):5'- ATGGCTTGTTCCTGTGCAAAC -3'
Posted On 2013-04-16