Incidental Mutation 'R4477:C5ar1'
ID 331315
Institutional Source Beutler Lab
Gene Symbol C5ar1
Ensembl Gene ENSMUSG00000049130
Gene Name complement component 5a receptor 1
Synonyms C5aR, D7Msu1, C5r1, Cd88
MMRRC Submission 041734-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R4477 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 15980668-15993465 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15982789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 77 (N77S)
Ref Sequence ENSEMBL: ENSMUSP00000148140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050770] [ENSMUST00000168818] [ENSMUST00000171425] [ENSMUST00000209442]
AlphaFold P30993
Predicted Effect probably damaging
Transcript: ENSMUST00000050770
AA Change: N77S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060003
Gene: ENSMUSG00000049130
AA Change: N77S

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 probably damaging
Transcript: ENSMUST00000168818
AA Change: N77S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129972
Gene: ENSMUSG00000049130
AA Change: N77S

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 damaging
Transcript: ENSMUST00000209442
AA Change: N77S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.5673 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 93% (39/42)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,186,383 (GRCm39) S549P probably damaging Het
Agfg1 T C 1: 82,853,061 (GRCm39) S75P probably damaging Het
AK157302 T A 13: 21,679,861 (GRCm39) V129E possibly damaging Het
Angpt1 A G 15: 42,331,560 (GRCm39) Y344H probably damaging Het
Ap1m2 A G 9: 21,209,509 (GRCm39) V389A probably benign Het
Bicd2 T A 13: 49,531,448 (GRCm39) I230N probably damaging Het
Cacna1c C T 6: 118,607,200 (GRCm39) V1235M possibly damaging Het
Cdh15 A G 8: 123,591,415 (GRCm39) H517R probably benign Het
D130040H23Rik C A 8: 69,755,155 (GRCm39) H187N possibly damaging Het
Dbn1 CCCGCTCCCGGTAGCGCCGCTC CCCGCTC 13: 55,629,374 (GRCm39) probably benign Het
Eif4g1 G T 16: 20,497,593 (GRCm39) probably benign Het
Fmn1 T A 2: 113,274,744 (GRCm39) probably benign Het
Gm3159 T C 14: 4,398,584 (GRCm38) Y92H probably damaging Het
Gm7138 A T 10: 77,612,246 (GRCm39) probably benign Het
Ift172 C T 5: 31,422,781 (GRCm39) A890T probably benign Het
Inpp5j T C 11: 3,451,625 (GRCm39) T426A probably damaging Het
Katna1 T C 10: 7,614,594 (GRCm39) V32A probably damaging Het
Lrrc71 G C 3: 87,649,972 (GRCm39) R319G probably damaging Het
Lyst G A 13: 13,809,968 (GRCm39) R546H probably damaging Het
Mmp19 A T 10: 128,631,506 (GRCm39) T129S probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Neo1 T C 9: 58,784,582 (GRCm39) D1458G probably damaging Het
Nup35 T C 2: 80,487,487 (GRCm39) probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Pdlim5 C T 3: 141,964,978 (GRCm39) S417N probably benign Het
Pla2g4f A G 2: 120,134,153 (GRCm39) S478P probably damaging Het
Plekhn1 G A 4: 156,307,856 (GRCm39) R357W probably damaging Het
Pom121 T C 5: 135,410,842 (GRCm39) T772A unknown Het
Pramel20 A G 4: 143,297,732 (GRCm39) I51V probably benign Het
Rasgef1a A T 6: 118,062,436 (GRCm39) H232L possibly damaging Het
Sdad1 A G 5: 92,445,019 (GRCm39) M315T probably damaging Het
Syt9 A G 7: 107,024,428 (GRCm39) N107S probably damaging Het
Traf3 T C 12: 111,215,036 (GRCm39) S202P probably benign Het
Vmn2r9 T C 5: 108,994,143 (GRCm39) E502G probably benign Het
Vps8 A T 16: 21,363,986 (GRCm39) probably benign Het
Zfp770 G A 2: 114,027,365 (GRCm39) L235F probably damaging 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
R4812:C5ar1 UTSW 7 15,982,258 (GRCm39) splice site probably null
R5795:C5ar1 UTSW 7 15,982,319 (GRCm39) missense possibly damaging 0.73
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'- ACGGTCGGCACTAATGGTAG -3'
(R):5'- TTAGGACCCCATAGATAACAGCAG -3'

Sequencing Primer
(F):5'- GCACTAATGGTAGCCAGCAGC -3'
(R):5'- TGATCACTATGGAACCATGGATCC -3'
Posted On 2015-07-21