Incidental Mutation 'R5549:C5ar2'
ID 435034
Institutional Source Beutler Lab
Gene Symbol C5ar2
Ensembl Gene ENSMUSG00000074361
Gene Name complement component 5a receptor 2
Synonyms E030029A11Rik, C5L2, Gpr77
MMRRC Submission 043106-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R5549 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 15968512-15978079 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15970868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 353 (V353A)
Ref Sequence ENSEMBL: ENSMUSP00000096389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098792] [ENSMUST00000171425]
AlphaFold Q8BW93
Predicted Effect probably damaging
Transcript: ENSMUST00000098792
AA Change: V353A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000096389
Gene: ENSMUSG00000074361
AA Change: V353A

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: V353A

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133056
Gene: ENSMUSG00000074361
AA Change: V353A

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,384,993 (GRCm39) E324G possibly damaging Het
Acad8 C T 9: 26,896,847 (GRCm39) R204Q probably damaging Het
Adgrg7 T G 16: 56,570,790 (GRCm39) T413P probably damaging Het
Ankrd11 A G 8: 123,617,117 (GRCm39) I2224T probably benign Het
Arhgap23 A G 11: 97,357,394 (GRCm39) D964G probably damaging Het
Atf6b A G 17: 34,870,657 (GRCm39) D367G probably damaging Het
Axdnd1 A G 1: 156,226,104 (GRCm39) L131P probably damaging Het
Bmp8b T C 4: 123,018,278 (GRCm39) V383A probably damaging Het
Ccr5 C A 9: 123,925,408 (GRCm39) A337E probably benign Het
Cftr G A 6: 18,227,953 (GRCm39) V382I probably benign Het
Csmd3 G C 15: 48,048,753 (GRCm39) S446C probably damaging Het
Cyp2d12 A G 15: 82,440,498 (GRCm39) T96A probably benign Het
Diaph3 T G 14: 87,216,106 (GRCm39) I465L probably benign Het
Fabp3 A G 4: 130,209,018 (GRCm39) *134W probably null Het
Fgf22 G T 10: 79,592,696 (GRCm39) M130I probably damaging Het
Flnc G A 6: 29,453,690 (GRCm39) V1792M probably damaging Het
Grik3 G A 4: 125,579,838 (GRCm39) A528T possibly damaging Het
Hecw2 G A 1: 53,964,850 (GRCm39) R659W possibly damaging Het
Hmbs C T 9: 44,250,774 (GRCm39) probably null Het
Ift122 T G 6: 115,868,983 (GRCm39) L490R probably damaging Het
Igkv4-63 T C 6: 69,355,116 (GRCm39) H55R probably damaging Het
Itga4 A T 2: 79,086,611 (GRCm39) N96I probably damaging Het
Kcna7 A T 7: 45,056,063 (GRCm39) H93L probably damaging Het
Klhdc7b A G 15: 89,271,562 (GRCm39) I815V probably benign Het
Lcmt1 G A 7: 123,027,330 (GRCm39) E298K probably damaging Het
Ly6g6f A G 17: 35,302,333 (GRCm39) V68A possibly damaging Het
Map3k8 C T 18: 4,340,762 (GRCm39) C184Y probably damaging Het
Mcemp1 A G 8: 3,718,340 (GRCm39) T183A possibly damaging Het
Mobp T G 9: 119,996,876 (GRCm39) S2R probably damaging Het
Mprip A G 11: 59,651,644 (GRCm39) S1783G probably benign Het
Mterf3 C A 13: 67,076,321 (GRCm39) A129S probably benign Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Nr2c1 A G 10: 94,003,558 (GRCm39) T239A probably benign Het
Odr4 A G 1: 150,247,909 (GRCm39) S325P possibly damaging Het
Oplah G A 15: 76,182,466 (GRCm39) A963V probably damaging Het
Or13a26 A G 7: 140,284,712 (GRCm39) probably null Het
Parp14 C T 16: 35,661,505 (GRCm39) S1481N probably benign Het
Prxl2a T C 14: 40,726,013 (GRCm39) K44E possibly damaging Het
Rictor C T 15: 6,816,391 (GRCm39) T1221M probably damaging Het
Rpe G A 1: 66,755,163 (GRCm39) D182N probably damaging Het
Slc24a3 C A 2: 145,448,784 (GRCm39) P443T probably damaging Het
Slc25a47 T C 12: 108,822,143 (GRCm39) *311Q probably null Het
Sox2 C G 3: 34,705,142 (GRCm39) A193G probably benign Het
Svep1 T C 4: 58,057,954 (GRCm39) S3284G probably benign Het
Zfp369 A T 13: 65,445,194 (GRCm39) H779L probably damaging Het
Zfp513 A T 5: 31,357,947 (GRCm39) L144Q possibly damaging Het
Zfp526 T C 7: 24,925,109 (GRCm39) F456S possibly damaging Het
Zfp791 C T 8: 85,836,835 (GRCm39) G343D probably damaging Het
Zfp941 A C 7: 140,388,021 (GRCm39) I664S possibly damaging Het
Zkscan3 A G 13: 21,578,233 (GRCm39) V189A probably damaging Het
Other mutations in C5ar2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0021:C5ar2 UTSW 7 15,971,601 (GRCm39) missense probably benign 0.00
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
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'- TGTGTAAACTGCTAACTCCTGG -3'
(R):5'- CGGAGCCTCTGTTTAATGGC -3'

Sequencing Primer
(F):5'- ACTGCTAACTCCTGGGGAAG -3'
(R):5'- GCCTCTGTTTAATGGCCTGGC -3'
Posted On 2016-10-24