Incidental Mutation 'R5795:C5ar1'
ID 447171
Institutional Source Beutler Lab
Gene Symbol C5ar1
Ensembl Gene ENSMUSG00000049130
Gene Name complement component 5a receptor 1
Synonyms C5aR, D7Msu1, C5r1, Cd88
MMRRC Submission 043386-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R5795 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 15980668-15993465 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15982319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 234 (K234E)
Ref Sequence ENSEMBL: ENSMUSP00000129972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050770] [ENSMUST00000168818] [ENSMUST00000171425] [ENSMUST00000209442]
AlphaFold P30993
Predicted Effect possibly damaging
Transcript: ENSMUST00000050770
AA Change: K234E

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000060003
Gene: ENSMUSG00000049130
AA Change: K234E

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 48 312 2.2e-5 PFAM
Pfam:7tm_1 54 301 9.4e-41 PFAM
low complexity region 332 348 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000168818
AA Change: K234E

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000129972
Gene: ENSMUSG00000049130
AA Change: K234E

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 48 312 2e-5 PFAM
Pfam:7tm_1 54 301 9.2e-52 PFAM
low complexity region 332 348 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171425
SMART Domains Protein: ENSMUSP00000133056
Gene: ENSMUSG00000074361

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
Predicted Effect probably benign
Transcript: ENSMUST00000209442
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous targeted mutants have impaired C5 responses that can show increased or decreased acute inflammation under different circumstances, and thus affect severity of disease or infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 A G 9: 104,186,688 (GRCm39) V261A probably benign Het
Adipor1 C A 1: 134,352,641 (GRCm39) N137K probably damaging Het
Ahnak A T 19: 8,989,746 (GRCm39) K3677* probably null Het
Ankrd24 C A 10: 81,480,937 (GRCm39) probably benign Het
Appl1 G T 14: 26,664,773 (GRCm39) P420Q probably benign Het
Bmp8b C A 4: 123,015,761 (GRCm39) F249L possibly damaging Het
Brat1 G T 5: 140,698,827 (GRCm39) A275S probably benign Het
Cblif A G 19: 11,737,740 (GRCm39) T384A probably damaging Het
Ccs A G 19: 4,883,367 (GRCm39) probably null Het
Chmp5 T G 4: 40,950,562 (GRCm39) probably null Het
Chrna3 T A 9: 54,922,552 (GRCm39) T419S probably benign Het
Crocc TCTGAGCTGCTGAGCTGC TCTGAGCTGC 4: 140,769,118 (GRCm39) probably null Het
Csf3 G T 11: 98,592,853 (GRCm39) C72F probably damaging Het
Dbndd1 A G 8: 124,236,619 (GRCm39) I83T probably damaging Het
Ercc6 A G 14: 32,248,309 (GRCm39) K287E probably damaging Het
F5 C T 1: 163,979,578 (GRCm39) T16I probably benign Het
Hephl1 C T 9: 14,981,056 (GRCm39) G792E probably damaging Het
Hmmr T A 11: 40,612,733 (GRCm39) D158V probably damaging Het
Hsd11b1 A G 1: 192,922,940 (GRCm39) S76P possibly damaging Het
Ilvbl T C 10: 78,412,978 (GRCm39) S167P probably benign Het
Irf7 G A 7: 140,845,029 (GRCm39) P118L probably damaging Het
Lama1 A G 17: 68,103,722 (GRCm39) N1981S probably benign Het
Lrp4 A G 2: 91,304,816 (GRCm39) D224G probably benign Het
Mink1 T C 11: 70,498,616 (GRCm39) Y594H possibly damaging Het
Minpp1 G A 19: 32,491,557 (GRCm39) V412M probably damaging Het
Muc5b G A 7: 141,425,478 (GRCm39) V4708M possibly damaging Het
Mycl G A 4: 122,890,415 (GRCm39) E34K probably damaging Het
Oaf T A 9: 43,135,241 (GRCm39) D179V probably damaging Het
Ogfod2 G A 5: 124,252,824 (GRCm39) G278D probably damaging Het
Or2h1 A G 17: 37,404,661 (GRCm39) L35P probably damaging Het
Or5b12 A G 19: 12,897,188 (GRCm39) F162L possibly damaging Het
Paf1 T G 7: 28,096,043 (GRCm39) M250R probably damaging Het
Pcdh8 T C 14: 80,008,420 (GRCm39) T48A possibly damaging Het
Pdzph1 A G 17: 59,192,862 (GRCm39) V1096A possibly damaging Het
Polr3b T C 10: 84,512,875 (GRCm39) S586P probably damaging Het
Polr3b A T 10: 84,464,116 (GRCm39) E25D probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Het
Slc28a2b T C 2: 122,348,475 (GRCm39) M274T possibly damaging Het
Slc31a2 T C 4: 62,215,289 (GRCm39) V112A probably damaging Het
Spire1 A T 18: 67,628,265 (GRCm39) S412T probably benign Het
Tanc1 A G 2: 59,637,926 (GRCm39) T876A possibly damaging Het
Tango6 T A 8: 107,444,709 (GRCm39) L538H probably damaging Het
Tas2r125 G A 6: 132,886,621 (GRCm39) G3D probably damaging Het
Tbc1d32 A T 10: 56,091,158 (GRCm39) M125K possibly damaging Het
Traf5 T C 1: 191,731,807 (GRCm39) S345G probably benign Het
Ush2a A T 1: 188,175,594 (GRCm39) I1231F probably benign Het
Vmn2r104 A G 17: 20,250,544 (GRCm39) S576P possibly damaging Het
Vmn2r104 G T 17: 20,250,372 (GRCm39) T633N probably benign Het
Vmn2r105 A T 17: 20,448,998 (GRCm39) C60S probably benign Het
Zfp316 A T 5: 143,248,594 (GRCm39) D217E unknown Het
Zfp456 A T 13: 67,515,039 (GRCm39) D222E probably benign Het
Other mutations in C5ar1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0135:C5ar1 UTSW 7 15,982,864 (GRCm39) missense probably damaging 1.00
R1338:C5ar1 UTSW 7 15,982,260 (GRCm39) missense probably damaging 1.00
R1527:C5ar1 UTSW 7 15,982,118 (GRCm39) missense probably damaging 1.00
R4477:C5ar1 UTSW 7 15,982,789 (GRCm39) missense probably damaging 1.00
R4812:C5ar1 UTSW 7 15,982,258 (GRCm39) splice site probably null
R5963:C5ar1 UTSW 7 15,982,747 (GRCm39) missense possibly damaging 0.60
R6993:C5ar1 UTSW 7 15,982,837 (GRCm39) missense probably damaging 1.00
R7294:C5ar1 UTSW 7 15,982,950 (GRCm39) missense probably benign 0.00
R7464:C5ar1 UTSW 7 15,982,691 (GRCm39) missense probably benign 0.07
R7619:C5ar1 UTSW 7 15,982,504 (GRCm39) missense probably damaging 1.00
R8520:C5ar1 UTSW 7 15,982,076 (GRCm39) missense probably damaging 1.00
R8934:C5ar1 UTSW 7 15,982,402 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGTTGATGTAGGCCAGGGAC -3'
(R):5'- CTGGGTCTTAGCATTGCTCC -3'

Sequencing Primer
(F):5'- ACACGCACAGGGAGTTCAGC -3'
(R):5'- ATCCTTCGTGTACCGGGAG -3'
Posted On 2016-12-15