Incidental Mutation 'R0021:C5ar2'
ID 64760
Institutional Source Beutler Lab
Gene Symbol C5ar2
Ensembl Gene ENSMUSG00000074361
Gene Name complement component 5a receptor 2
Synonyms E030029A11Rik, C5L2, Gpr77
MMRRC Submission 038316-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R0021 (G1)
Quality Score 97
Status Validated
Chromosome 7
Chromosomal Location 15968512-15978079 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15971601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 109 (F109L)
Ref Sequence ENSEMBL: ENSMUSP00000133056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098792] [ENSMUST00000171425]
AlphaFold Q8BW93
Predicted Effect probably benign
Transcript: ENSMUST00000098792
AA Change: F109L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000096389
Gene: ENSMUSG00000074361
AA Change: F109L

DomainStartEndE-ValueType
low complexity region 18 35 N/A INTRINSIC
low complexity region 53 68 N/A INTRINSIC
Pfam:7tm_1 72 311 9.5e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116763
Predicted Effect probably benign
Transcript: ENSMUST00000171425
AA Change: F109L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133056
Gene: ENSMUSG00000074361
AA Change: F109L

DomainStartEndE-ValueType
low complexity region 18 35 N/A INTRINSIC
low complexity region 53 68 N/A INTRINSIC
Pfam:7tm_1 72 257 7e-21 PFAM
Pfam:7tm_1 243 311 8.2e-7 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency 97% (60/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G-protein coupled receptor 1 family member involved in the complement system of the innate immune response. Unlike classical G-protein coupled receptors, the encoded protein does not associate with intracellular G-proteins. It may instead modulate signal transduction through the beta-arrestin pathway, and may alternatively act as a decoy receptor. This gene may be involved in coronary artery disease and in the pathogenesis of sepsis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygous null mice display increased inflammatory response and chemotaxis after exposure to anaphylatoxins. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310016G11Rik A G 7: 44,326,620 (GRCm39) noncoding transcript Het
Abcc5 T A 16: 20,197,411 (GRCm39) K647* probably null Het
Aplp1 A G 7: 30,135,241 (GRCm39) probably benign Het
Arhgef25 A G 10: 127,025,423 (GRCm39) I43T probably benign Het
Brinp3 T G 1: 146,777,189 (GRCm39) S545R probably benign Het
Btnl1 A G 17: 34,598,468 (GRCm39) E28G probably benign Het
D630045J12Rik G A 6: 38,160,902 (GRCm39) Q1081* probably null Het
Dhx36 T C 3: 62,385,016 (GRCm39) I699V possibly damaging Het
Dnah9 A G 11: 65,860,805 (GRCm39) I2855T probably benign Het
Dock8 T C 19: 25,140,411 (GRCm39) I1317T probably benign Het
Galnt11 A T 5: 25,453,855 (GRCm39) D27V probably damaging Het
Gm5134 T A 10: 75,829,718 (GRCm39) C335S probably damaging Het
Hdhd2 A T 18: 77,058,311 (GRCm39) K227N probably damaging Het
Impg1 A T 9: 80,317,479 (GRCm39) L36Q probably damaging Het
Krtcap3 A G 5: 31,410,303 (GRCm39) H227R probably benign Het
Lrrc7 A G 3: 157,866,298 (GRCm39) Y1148H probably damaging Het
Map2k4 A G 11: 65,603,110 (GRCm39) I174T probably damaging Het
Mef2c C A 13: 83,804,359 (GRCm39) L282M probably damaging Het
Nkapd1 A C 9: 50,521,725 (GRCm39) D65E probably damaging Het
Nqo2 T C 13: 34,165,490 (GRCm39) I129T probably benign Het
Pdgfrb T A 18: 61,197,998 (GRCm39) probably benign Het
Phf7 C T 14: 30,960,443 (GRCm39) probably benign Het
Plac8 T A 5: 100,704,434 (GRCm39) T88S probably benign Het
Pou2f1 G A 1: 165,703,587 (GRCm39) T654M probably damaging Het
Ptprk T A 10: 28,468,891 (GRCm39) V1425E probably damaging Het
Saal1 A T 7: 46,342,316 (GRCm39) S376T probably damaging Het
Scart2 G A 7: 139,876,310 (GRCm39) R594H probably benign Het
Serpini1 T C 3: 75,526,620 (GRCm39) Y291H probably damaging Het
Siah2 T C 3: 58,583,713 (GRCm39) H191R probably benign Het
Spaca6 T A 17: 18,058,498 (GRCm39) Y39* probably null Het
Tbc1d10a T C 11: 4,163,680 (GRCm39) C277R probably damaging Het
Trim45 A T 3: 100,832,736 (GRCm39) D323V probably damaging Het
Trim55 A C 3: 19,698,866 (GRCm39) M32L probably benign Het
Unc5b T C 10: 60,614,698 (GRCm39) T200A probably benign Het
Uqcc4 A G 17: 25,403,957 (GRCm39) E99G possibly damaging Het
V1rd19 A T 7: 23,703,029 (GRCm39) D165V probably damaging Het
Other mutations in C5ar2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0848:C5ar2 UTSW 7 15,971,526 (GRCm39) missense probably benign 0.35
R3078:C5ar2 UTSW 7 15,971,349 (GRCm39) missense probably damaging 1.00
R4775:C5ar2 UTSW 7 15,971,540 (GRCm39) missense probably damaging 0.98
R5549:C5ar2 UTSW 7 15,970,868 (GRCm39) missense probably damaging 0.96
R8954:C5ar2 UTSW 7 15,971,733 (GRCm39) missense possibly damaging 0.95
R9381:C5ar2 UTSW 7 15,970,887 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCCCAAATGTTCGATGATCTGCACC -3'
(R):5'- CCATGAACACTACAGTGACCTTCCG -3'

Sequencing Primer
(F):5'- GATGATCTGCACCCTTCCAG -3'
(R):5'- AGCTGGCACCTGCTTCAC -3'
Posted On 2013-08-06