Incidental Mutation 'R6804:C1ra'
ID 533481
Institutional Source Beutler Lab
Gene Symbol C1ra
Ensembl Gene ENSMUSG00000055172
Gene Name complement component 1, r subcomponent A
Synonyms mC1rA
MMRRC Submission 044917-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6804 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 124489580-124500399 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 124494684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 316 (E316K)
Ref Sequence ENSEMBL: ENSMUSP00000063707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068593]
AlphaFold Q8CG16
Predicted Effect probably benign
Transcript: ENSMUST00000068593
AA Change: E316K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000063707
Gene: ENSMUSG00000055172
AA Change: E316K

DomainStartEndE-ValueType
CUB 14 140 1.56e-35 SMART
EGF_CA 141 189 1.88e-10 SMART
CUB 192 304 4.74e-35 SMART
CCP 308 370 5.56e-9 SMART
CCP 375 446 1.53e-6 SMART
Tryp_SPc 462 699 2.7e-71 SMART
Meta Mutation Damage Score 0.0792 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 A T 1: 58,343,757 (GRCm39) Q480L probably benign Het
Arid4b T A 13: 14,303,792 (GRCm39) D72E probably benign Het
Avil C T 10: 126,844,175 (GRCm39) Q245* probably null Het
BC048679 T C 7: 81,146,612 (GRCm39) S2G possibly damaging Het
Cacna1d T C 14: 29,773,622 (GRCm39) T1723A probably benign Het
Cfap91 T C 16: 38,152,604 (GRCm39) D202G probably damaging Het
Chil3 A T 3: 106,071,495 (GRCm39) Y56* probably null Het
Clec2i A G 6: 128,872,384 (GRCm39) E172G probably damaging Het
Crybg1 C T 10: 43,842,337 (GRCm39) D1785N probably damaging Het
Csmd1 G A 8: 16,087,260 (GRCm39) R1930W probably damaging Het
D430041D05Rik A C 2: 103,979,371 (GRCm39) S2019A possibly damaging Het
Ep300 T A 15: 81,525,512 (GRCm39) Y1445* probably null Het
Gne A G 4: 44,060,210 (GRCm39) I61T probably damaging Het
Ifit3b A T 19: 34,588,947 (GRCm39) Q41L possibly damaging Het
Kplce T C 3: 92,776,354 (GRCm39) T110A possibly damaging Het
Llgl2 A G 11: 115,734,141 (GRCm39) probably null Het
Mast3 T C 8: 71,239,376 (GRCm39) I417V probably benign Het
Mettl21e T A 1: 44,257,295 (GRCm39) I8F probably benign Het
Ms4a2 A G 19: 11,594,899 (GRCm39) Y183H probably damaging Het
Naip6 C G 13: 100,435,675 (GRCm39) E949D probably benign Het
Nbea T C 3: 55,994,874 (GRCm39) T181A probably benign Het
Nrg1 T C 8: 32,311,292 (GRCm39) R476G probably damaging Het
Olfm3 A T 3: 114,916,328 (GRCm39) Y400F probably benign Het
Or12d2 A G 17: 37,625,021 (GRCm39) S85P probably damaging Het
Or1e33 A G 11: 73,738,240 (GRCm39) V237A probably benign Het
Or2a25 A T 6: 42,888,852 (GRCm39) T132S probably benign Het
Or2y1e A G 11: 49,218,808 (GRCm39) D190G probably benign Het
Pappa2 T C 1: 158,764,438 (GRCm39) S358G probably benign Het
Pde4dip C A 3: 97,700,564 (GRCm39) E259* probably null Het
Phlpp2 T A 8: 110,655,197 (GRCm39) L664Q probably damaging Het
Prpf8 A G 11: 75,390,635 (GRCm39) K1262R possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Saal1 GGCTTGCACGCCGT G 7: 46,349,064 (GRCm39) probably null Het
Sec31a C T 5: 100,530,671 (GRCm39) V701I probably benign Het
Smarca2 A T 19: 26,729,286 (GRCm39) R12S possibly damaging Het
Spocd1 T A 4: 129,847,423 (GRCm39) C537* probably null Het
Syt14 T C 1: 192,584,161 (GRCm39) E701G probably damaging Het
Taf3 T C 2: 9,923,028 (GRCm39) Y32C possibly damaging Het
Tfeb T C 17: 48,100,735 (GRCm39) probably null Het
Ttc13 C A 8: 125,426,426 (GRCm39) R168L probably damaging Het
Vmn2r11 T A 5: 109,201,350 (GRCm39) N385Y probably damaging Het
Vmn2r54 T C 7: 12,363,792 (GRCm39) K367R probably benign Het
Other mutations in C1ra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00555:C1ra APN 6 124,499,250 (GRCm39) missense probably benign 0.00
IGL03079:C1ra APN 6 124,496,794 (GRCm39) missense probably damaging 1.00
IGL03151:C1ra APN 6 124,496,730 (GRCm39) missense probably benign 0.09
innate UTSW 6 124,499,610 (GRCm39) missense probably damaging 1.00
mueller-eberhardt UTSW 6 124,489,760 (GRCm39) critical splice donor site probably null
pillemer UTSW 6 124,493,683 (GRCm39) missense probably damaging 1.00
R0331:C1ra UTSW 6 124,496,394 (GRCm39) splice site probably null
R0457:C1ra UTSW 6 124,499,712 (GRCm39) missense probably benign
R0472:C1ra UTSW 6 124,494,403 (GRCm39) missense possibly damaging 0.95
R0570:C1ra UTSW 6 124,490,664 (GRCm39) missense probably benign 0.00
R0634:C1ra UTSW 6 124,494,464 (GRCm39) missense possibly damaging 0.49
R0661:C1ra UTSW 6 124,499,336 (GRCm39) missense probably benign
R1451:C1ra UTSW 6 124,498,600 (GRCm39) missense probably benign 0.04
R1640:C1ra UTSW 6 124,499,233 (GRCm39) missense probably benign 0.17
R1698:C1ra UTSW 6 124,499,725 (GRCm39) missense probably benign 0.05
R4020:C1ra UTSW 6 124,496,736 (GRCm39) missense probably benign 0.01
R4801:C1ra UTSW 6 124,490,727 (GRCm39) missense probably benign 0.00
R4802:C1ra UTSW 6 124,490,727 (GRCm39) missense probably benign 0.00
R4909:C1ra UTSW 6 124,499,293 (GRCm39) missense probably damaging 1.00
R5086:C1ra UTSW 6 124,496,688 (GRCm39) missense probably damaging 1.00
R5108:C1ra UTSW 6 124,499,881 (GRCm39) missense probably damaging 1.00
R5372:C1ra UTSW 6 124,498,584 (GRCm39) missense probably damaging 1.00
R5421:C1ra UTSW 6 124,499,749 (GRCm39) missense probably benign 0.36
R5635:C1ra UTSW 6 124,493,683 (GRCm39) missense probably damaging 1.00
R6438:C1ra UTSW 6 124,490,736 (GRCm39) missense possibly damaging 0.54
R6518:C1ra UTSW 6 124,498,534 (GRCm39) splice site probably null
R6738:C1ra UTSW 6 124,494,718 (GRCm39) missense probably damaging 1.00
R6805:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R6939:C1ra UTSW 6 124,489,760 (GRCm39) critical splice donor site probably null
R6981:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R6982:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7056:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7057:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7094:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7468:C1ra UTSW 6 124,499,403 (GRCm39) nonsense probably null
R7476:C1ra UTSW 6 124,499,658 (GRCm39) missense probably damaging 1.00
R7478:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7479:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7481:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7512:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7725:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7728:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7730:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7818:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7819:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7835:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7854:C1ra UTSW 6 124,494,700 (GRCm39) missense probably benign 0.00
R7876:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7877:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7881:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7883:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7892:C1ra UTSW 6 124,496,374 (GRCm39) missense probably benign 0.07
R7899:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7901:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7902:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7903:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7947:C1ra UTSW 6 124,494,338 (GRCm39) missense probably benign 0.02
R8087:C1ra UTSW 6 124,490,831 (GRCm39) missense probably damaging 1.00
R8098:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R8099:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R8271:C1ra UTSW 6 124,499,610 (GRCm39) missense probably damaging 1.00
R8300:C1ra UTSW 6 124,498,597 (GRCm39) missense probably benign 0.04
R8824:C1ra UTSW 6 124,494,654 (GRCm39) missense probably damaging 0.99
R9227:C1ra UTSW 6 124,493,739 (GRCm39) missense probably damaging 1.00
R9248:C1ra UTSW 6 124,489,580 (GRCm39) start gained probably benign
R9275:C1ra UTSW 6 124,494,383 (GRCm39) missense probably benign 0.26
R9382:C1ra UTSW 6 124,490,819 (GRCm39) missense probably benign 0.00
R9477:C1ra UTSW 6 124,499,455 (GRCm39) missense probably benign 0.00
X0062:C1ra UTSW 6 124,499,398 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATGGCTTCCTGGGAAACTTG -3'
(R):5'- TGAGGGCAGACAGATTGATTCTTC -3'

Sequencing Primer
(F):5'- ACTTGTGTTGAACATGGATGAGACC -3'
(R):5'- GCAGACAGATTGATTCTTCCAGCC -3'
Posted On 2018-09-12