Incidental Mutation 'R5610:C3ar1'
ID 440297
Institutional Source Beutler Lab
Gene Symbol C3ar1
Ensembl Gene ENSMUSG00000040552
Gene Name complement component 3a receptor 1
Synonyms C3aR, anaphylatoxin C3a receptor
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5610 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 122824099-122833116 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 122827537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 227 (T227P)
Ref Sequence ENSEMBL: ENSMUSP00000048092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042081]
AlphaFold O09047
Predicted Effect probably benign
Transcript: ENSMUST00000042081
AA Change: T227P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000048092
Gene: ENSMUSG00000040552
AA Change: T227P

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 144,982,156 (GRCm39) D247G possibly damaging Het
1700123K08Rik A G 5: 138,562,403 (GRCm39) probably null Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Accsl C A 2: 93,692,118 (GRCm39) probably null Het
Adad2 C T 8: 120,341,500 (GRCm39) R171C probably benign Het
Adgrv1 A C 13: 81,669,236 (GRCm39) L2440R probably damaging Het
Antxr1 A G 6: 87,232,845 (GRCm39) V239A probably damaging Het
Aoc1l2 G A 6: 48,907,953 (GRCm39) V318I probably benign Het
Arhgap28 G A 17: 68,203,235 (GRCm39) Q73* probably null Het
Arrdc5 C T 17: 56,604,846 (GRCm39) R147H probably benign Het
Ash1l T C 3: 88,930,492 (GRCm39) Y1990H probably damaging Het
Bank1 T C 3: 135,772,148 (GRCm39) E494G probably damaging Het
Bicral A T 17: 47,119,418 (GRCm39) I701N probably damaging Het
Bod1l T C 5: 41,979,217 (GRCm39) Y699C probably damaging Het
Ccr3 C A 9: 123,829,518 (GRCm39) D284E probably damaging Het
Cdh13 T C 8: 119,578,462 (GRCm39) V163A possibly damaging Het
CK137956 C T 4: 127,840,440 (GRCm39) probably null Het
Cltc T C 11: 86,612,472 (GRCm39) S529G probably benign Het
Cplane2 C T 4: 140,947,177 (GRCm39) P186L probably benign Het
Ddx11 A G 17: 66,457,021 (GRCm39) K783E probably damaging Het
Dnah3 T A 7: 119,538,288 (GRCm39) probably null Het
Eef2k A G 7: 120,486,005 (GRCm39) H408R probably benign Het
Esr1 A G 10: 4,951,221 (GRCm39) K533R probably damaging Het
Fat1 T A 8: 45,406,109 (GRCm39) Y953* probably null Het
Fosl1 T A 19: 5,505,133 (GRCm39) probably null Het
Frmd4b A G 6: 97,283,752 (GRCm39) M373T probably benign Het
Gm1968 A G 16: 29,777,557 (GRCm39) noncoding transcript Het
Gpr26 T C 7: 131,568,694 (GRCm39) V13A possibly damaging Het
Gtf3c1 T C 7: 125,303,117 (GRCm39) N106S possibly damaging Het
Itgb8 T G 12: 119,134,429 (GRCm39) E546A probably damaging Het
Itpr3 C T 17: 27,337,540 (GRCm39) T2450M probably benign Het
Kif1a A T 1: 92,953,450 (GRCm39) Y1245N probably damaging Het
Klrb1f G A 6: 129,031,335 (GRCm39) probably null Het
Lars1 A G 18: 42,390,156 (GRCm39) L37P probably benign Het
Lnpk T C 2: 74,378,369 (GRCm39) T131A probably benign Het
Mob3c C T 4: 115,690,878 (GRCm39) T156I probably benign Het
Nadk T A 4: 155,668,628 (GRCm39) W100R probably damaging Het
Npy6r A T 18: 44,409,061 (GRCm39) I161F probably benign Het
Or4c107 A C 2: 88,789,170 (GRCm39) D120A probably damaging Het
Or6c204 G A 10: 129,022,426 (GRCm39) T288I probably damaging Het
Pcdhga3 A G 18: 37,808,276 (GRCm39) E243G possibly damaging Het
Pdss2 A G 10: 43,315,828 (GRCm39) T361A probably benign Het
Pkd1l2 G T 8: 117,769,059 (GRCm39) Q1198K probably benign Het
Prdx1 T A 4: 116,550,124 (GRCm39) I102N probably damaging Het
Prss1 G A 6: 41,438,147 (GRCm39) V25I probably benign Het
Pspc1 A G 14: 57,015,388 (GRCm39) Y77H probably damaging Het
Rnf5 T C 17: 34,820,712 (GRCm39) probably benign Het
Ryr1 C A 7: 28,811,399 (GRCm39) M235I probably benign Het
Sec24c A G 14: 20,741,893 (GRCm39) Y776C probably damaging Het
Sharpin A G 15: 76,234,253 (GRCm39) probably null Het
Slc12a4 C A 8: 106,676,845 (GRCm39) V482L possibly damaging Het
Slc38a1 C T 15: 96,514,022 (GRCm39) probably null Het
Smtn G T 11: 3,479,582 (GRCm39) T495N probably damaging Het
Sncaip A G 18: 53,001,991 (GRCm39) T171A probably benign Het
Sprr2e T C 3: 92,260,399 (GRCm39) *77R probably null Het
Syngap1 T A 17: 27,178,754 (GRCm39) D443E possibly damaging Het
Taldo1 T C 7: 140,972,205 (GRCm39) V24A probably damaging Het
Tfap2c T A 2: 172,391,778 (GRCm39) N8K probably benign Het
Tmem229a T C 6: 24,955,580 (GRCm39) Y58C probably damaging Het
Tubgcp3 T C 8: 12,689,577 (GRCm39) Y563C probably damaging Het
Ubr1 T A 2: 120,722,593 (GRCm39) D1342V probably benign Het
Usp7 C T 16: 8,534,374 (GRCm39) probably null Het
Wbp1 C T 6: 83,097,216 (GRCm39) G75D probably damaging Het
Zfp180 G T 7: 23,804,315 (GRCm39) V245F probably benign Het
Zfp414 C T 17: 33,849,012 (GRCm39) T33I probably damaging Het
Zfp646 T A 7: 127,478,530 (GRCm39) C236S probably damaging 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
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
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'- CGTCAGCGTTCAGTGTATTG -3'
(R):5'- CATCGAAACGTGAGAACCGC -3'

Sequencing Primer
(F):5'- GGATTTACGATCTTCAACAGGAAACC -3'
(R):5'- ACCGTGATCTGTTCATTATGGAC -3'
Posted On 2016-11-08