Incidental Mutation 'R1451:C1ra'
ID 161661
Institutional Source Beutler Lab
Gene Symbol C1ra
Ensembl Gene ENSMUSG00000055172
Gene Name complement component 1, r subcomponent A
Synonyms mC1rA
MMRRC Submission 039506-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1451 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 124489580-124500399 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 124498600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 431 (Q431L)
Ref Sequence ENSEMBL: ENSMUSP00000063707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068593]
AlphaFold Q8CG16
Predicted Effect probably benign
Transcript: ENSMUST00000068593
AA Change: Q431L

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000063707
Gene: ENSMUSG00000055172
AA Change: Q431L

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 0.1094 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.3%
Validation Efficiency 96% (55/57)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik T C 14: 32,098,588 (GRCm39) E83G possibly damaging Het
Abca9 A G 11: 110,018,273 (GRCm39) S1116P probably damaging Het
Abcc12 T A 8: 87,284,322 (GRCm39) T296S probably damaging Het
Adarb2 A G 13: 8,389,657 (GRCm39) probably benign Het
Arhgef12 C T 9: 42,903,874 (GRCm39) probably benign Het
Asah1 A G 8: 41,807,049 (GRCm39) probably null Het
C1s2 A T 6: 124,602,453 (GRCm39) I580N probably benign Het
Cacna2d4 C T 6: 119,213,785 (GRCm39) T68I probably benign Het
Car8 A T 4: 8,189,327 (GRCm39) H162Q probably benign Het
Ccdc106 A G 7: 5,062,527 (GRCm39) R116G probably damaging Het
Ccdc136 T A 6: 29,419,376 (GRCm39) N965K probably benign Het
Cd200r3 A G 16: 44,771,910 (GRCm39) E58G possibly damaging Het
Cnksr3 T A 10: 7,076,830 (GRCm39) S121C probably null Het
Cog6 T C 3: 52,916,534 (GRCm39) M212V possibly damaging Het
Ebna1bp2 C A 4: 118,478,269 (GRCm39) probably null Het
Epha1 C A 6: 42,338,385 (GRCm39) M730I probably damaging Het
Fcgbpl1 T C 7: 27,836,582 (GRCm39) F167S probably damaging Het
Fscn2 A T 11: 120,252,848 (GRCm39) E105V probably damaging Het
Gars1 T C 6: 55,030,108 (GRCm39) probably benign Het
Itgb4 G T 11: 115,881,710 (GRCm39) G753V probably damaging Het
Kif23 C T 9: 61,832,084 (GRCm39) V634M probably damaging Het
Krt8 T C 15: 101,907,264 (GRCm39) Y273C possibly damaging Het
Lgmn A G 12: 102,372,151 (GRCm39) probably benign Het
Lrig3 T C 10: 125,845,926 (GRCm39) I785T possibly damaging Het
Lrriq1 A G 10: 103,038,376 (GRCm39) probably benign Het
Lta4h A G 10: 93,316,590 (GRCm39) D491G probably damaging Het
Megf10 A T 18: 57,385,931 (GRCm39) S315C probably damaging Het
Mphosph8 C T 14: 56,905,878 (GRCm39) R24C possibly damaging Het
Neurog2 A G 3: 127,427,490 (GRCm39) D38G possibly damaging Het
Or1j11 G T 2: 36,311,877 (GRCm39) A156S probably benign Het
Or2w2 A T 13: 21,758,457 (GRCm39) Y56* probably null Het
Or2z2 C T 11: 58,346,358 (GRCm39) R139H probably benign Het
Or6b3 T A 1: 92,439,517 (GRCm39) I78F possibly damaging Het
Or8b50 A T 9: 38,518,234 (GRCm39) I158F probably benign Het
Or8g50 T A 9: 39,648,612 (GRCm39) V167D probably benign Het
Pcdhb17 A T 18: 37,619,989 (GRCm39) D593V probably damaging Het
Pde2a G T 7: 101,071,198 (GRCm39) E23* probably null Het
Prex2 G A 1: 11,226,483 (GRCm39) V749I probably benign Het
Ptchd4 A G 17: 42,813,809 (GRCm39) Y570C probably damaging Het
Robo3 C T 9: 37,329,007 (GRCm39) R1237K probably benign Het
Slc6a1 C A 6: 114,284,756 (GRCm39) Y87* probably null Het
Snx13 G A 12: 35,128,983 (GRCm39) A34T probably benign Het
Sppl3 T C 5: 115,226,424 (GRCm39) L193P probably damaging Het
Tia1 A T 6: 86,407,321 (GRCm39) Y277F probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trappc2l T C 8: 123,342,134 (GRCm39) F127L probably damaging Het
Ushbp1 G T 8: 71,838,663 (GRCm39) Q588K possibly damaging Het
Usp43 T A 11: 67,747,007 (GRCm39) H895L probably benign Het
Vmn1r179 T A 7: 23,628,275 (GRCm39) C155* probably null Het
Vmn2r8 T A 5: 108,945,933 (GRCm39) D558V probably damaging Het
Vps13a T C 19: 16,688,228 (GRCm39) T860A probably benign Het
Vps50 A G 6: 3,565,628 (GRCm39) N522S possibly damaging Het
Zfp180 T C 7: 23,804,643 (GRCm39) F354S probably benign Het
Zgpat A G 2: 181,021,984 (GRCm39) 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
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
R6804:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
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'- AAGGCTTCCTTCCAAAGTAGGCATC -3'
(R):5'- TTCCCTTGGAGTTGAAGCATCACC -3'

Sequencing Primer
(F):5'- TTCCAAAGTAGGCATCAGCTC -3'
(R):5'- GGAGTTGAAGCATCACCTTACTTG -3'
Posted On 2014-03-14