Incidental Mutation 'R9751:C1s2'
ID 732511
Institutional Source Beutler Lab
Gene Symbol C1s2
Ensembl Gene ENSMUSG00000079343
Gene Name complement component 1, s subcomponent 2
Synonyms Gm5077
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R9751 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 124601584-124613044 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 124602553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 553 (P553T)
Ref Sequence ENSEMBL: ENSMUSP00000151642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068797] [ENSMUST00000218020]
AlphaFold Q8CFG8
Predicted Effect probably damaging
Transcript: ENSMUST00000068797
AA Change: P547T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066999
Gene: ENSMUSG00000079343
AA Change: P547T

DomainStartEndE-ValueType
CUB 15 136 1.31e-28 SMART
EGF_CA 137 178 3.35e-7 SMART
CUB 181 296 1.45e-30 SMART
CCP 300 360 3.27e-6 SMART
CCP 365 427 9.54e-8 SMART
Tryp_SPc 443 681 8.92e-72 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000218020
AA Change: P553T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,881,126 (GRCm39) N514D probably benign Het
Adgre1 G A 17: 57,757,101 (GRCm39) R786H probably null Het
Ankrd7 G A 6: 18,868,024 (GRCm39) V97I probably damaging Het
Bltp1 A G 3: 37,065,889 (GRCm39) I54M Het
Bmper C T 9: 23,318,009 (GRCm39) P543S possibly damaging Het
Brwd1 A T 16: 95,795,015 (GRCm39) M2233K possibly damaging Het
Cachd1 G A 4: 100,823,438 (GRCm39) V497I possibly damaging Het
Cacng4 A G 11: 107,626,019 (GRCm39) S191P probably damaging Het
Cd109 C A 9: 78,605,442 (GRCm39) T1015K probably damaging Het
Clstn2 A G 9: 97,339,703 (GRCm39) L756P probably damaging Het
Crybg3 A T 16: 59,377,887 (GRCm39) D1122E possibly damaging Het
Csf2 A T 11: 54,140,420 (GRCm39) L6* probably null Het
Csnk1g2 T A 10: 80,473,745 (GRCm39) Y71N possibly damaging Het
Dlg2 C A 7: 90,564,731 (GRCm39) H116N probably benign Het
Dnah14 C T 1: 181,619,610 (GRCm39) S3978L probably damaging Het
Dpp8 C T 9: 64,960,453 (GRCm39) T328I probably null Het
Dync2i1 T A 12: 116,205,403 (GRCm39) probably null Het
Dysf T C 6: 84,163,450 (GRCm39) V1625A probably damaging Het
Efcab3 G A 11: 104,783,911 (GRCm39) G2754E probably benign Het
Egf C A 3: 129,548,538 (GRCm39) V26F probably damaging Het
Eif1ad19 T C 12: 87,740,526 (GRCm39) N11S possibly damaging Het
Fam20a T A 11: 109,565,992 (GRCm39) Y414F probably damaging Het
Fsip2 T C 2: 82,818,241 (GRCm39) I4658T probably benign Het
Hycc1 C T 5: 24,196,748 (GRCm39) E47K probably benign Het
Igflr1 A T 7: 30,266,653 (GRCm39) Q167L possibly damaging Het
Krt79 T G 15: 101,839,196 (GRCm39) E424D probably benign Het
Map3k6 A G 4: 132,979,168 (GRCm39) probably null Het
Mcpt4 A G 14: 56,297,511 (GRCm39) I215T probably damaging Het
Med13 T C 11: 86,189,984 (GRCm39) Y975C probably damaging Het
Meioc T A 11: 102,566,419 (GRCm39) Y678* probably null Het
Myof T C 19: 37,924,818 (GRCm39) T1190A probably benign Het
Nap1l4 A C 7: 143,088,132 (GRCm39) probably benign Het
Ncapg T C 5: 45,851,195 (GRCm39) V796A probably damaging Het
Or4c10b C T 2: 89,711,956 (GRCm39) T262I probably benign Het
Or4c119 C T 2: 88,986,782 (GRCm39) V246M possibly damaging Het
Or5d39 T A 2: 87,979,614 (GRCm39) I250L probably benign Het
Or5d40 T A 2: 88,015,260 (GRCm39) V13E possibly damaging Het
Or5p68 T C 7: 107,945,645 (GRCm39) Y181C probably benign Het
Paxbp1 A G 16: 90,824,188 (GRCm39) S515P probably benign Het
Pip4p1 A G 14: 51,165,436 (GRCm39) V257A probably benign Het
Plce1 C T 19: 38,717,414 (GRCm39) S1401F probably damaging Het
Rptor A G 11: 119,777,964 (GRCm39) K1043E probably benign Het
Rtn4rl2 T G 2: 84,711,039 (GRCm39) N75T probably damaging Het
Slc35f4 A G 14: 49,536,291 (GRCm39) I448T possibly damaging Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,278,612 (GRCm39) probably benign Het
Tas2r115 A G 6: 132,714,918 (GRCm39) I11T possibly damaging Het
Tbc1d5 A G 17: 51,181,680 (GRCm39) V351A possibly damaging Het
Trim43b A T 9: 88,971,570 (GRCm39) D195E probably benign Het
Trim65 C A 11: 116,021,564 (GRCm39) A90S probably benign Het
Trip11 C T 12: 101,850,765 (GRCm39) V1100I possibly damaging Het
Tyrp1 A G 4: 80,759,012 (GRCm39) E295G probably null Het
Ube2g2 G A 10: 77,480,307 (GRCm39) V138I probably benign Het
Other mutations in C1s2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01503:C1s2 APN 6 124,602,612 (GRCm39) missense probably damaging 0.99
IGL02112:C1s2 APN 6 124,602,267 (GRCm39) missense probably benign 0.28
IGL02342:C1s2 APN 6 124,609,075 (GRCm39) missense probably damaging 0.98
R0616:C1s2 UTSW 6 124,605,723 (GRCm39) missense probably damaging 1.00
R0621:C1s2 UTSW 6 124,608,071 (GRCm39) missense probably damaging 1.00
R1439:C1s2 UTSW 6 124,607,126 (GRCm39) splice site probably benign
R1451:C1s2 UTSW 6 124,602,453 (GRCm39) missense probably benign 0.06
R1484:C1s2 UTSW 6 124,602,604 (GRCm39) missense possibly damaging 0.95
R1570:C1s2 UTSW 6 124,602,723 (GRCm39) missense probably benign 0.01
R1824:C1s2 UTSW 6 124,612,641 (GRCm39) missense probably benign 0.03
R2009:C1s2 UTSW 6 124,612,048 (GRCm39) missense probably damaging 1.00
R2109:C1s2 UTSW 6 124,612,004 (GRCm39) missense probably damaging 0.96
R2197:C1s2 UTSW 6 124,609,069 (GRCm39) missense probably damaging 1.00
R4421:C1s2 UTSW 6 124,602,174 (GRCm39) missense probably benign 0.39
R4573:C1s2 UTSW 6 124,605,202 (GRCm39) splice site probably null
R4906:C1s2 UTSW 6 124,612,073 (GRCm39) nonsense probably null
R4923:C1s2 UTSW 6 124,602,649 (GRCm39) missense probably benign 0.00
R4977:C1s2 UTSW 6 124,612,598 (GRCm39) missense probably damaging 0.96
R5030:C1s2 UTSW 6 124,612,547 (GRCm39) missense possibly damaging 0.77
R5690:C1s2 UTSW 6 124,607,996 (GRCm39) missense probably benign 0.13
R5708:C1s2 UTSW 6 124,602,702 (GRCm39) nonsense probably null
R5846:C1s2 UTSW 6 124,608,123 (GRCm39) missense probably damaging 1.00
R6176:C1s2 UTSW 6 124,602,768 (GRCm39) missense probably damaging 1.00
R6177:C1s2 UTSW 6 124,606,960 (GRCm39) missense probably damaging 0.96
R6842:C1s2 UTSW 6 124,604,461 (GRCm39) missense probably benign 0.12
R7291:C1s2 UTSW 6 124,602,343 (GRCm39) missense probably benign 0.16
R7590:C1s2 UTSW 6 124,609,087 (GRCm39) missense probably damaging 1.00
R7721:C1s2 UTSW 6 124,607,017 (GRCm39) missense possibly damaging 0.73
R7864:C1s2 UTSW 6 124,602,246 (GRCm39) missense probably benign 0.18
R7886:C1s2 UTSW 6 124,605,289 (GRCm39) missense possibly damaging 0.95
R8849:C1s2 UTSW 6 124,602,754 (GRCm39) missense probably benign 0.31
R9135:C1s2 UTSW 6 124,602,642 (GRCm39) missense probably benign
R9366:C1s2 UTSW 6 124,602,694 (GRCm39) missense probably benign 0.05
R9407:C1s2 UTSW 6 124,602,454 (GRCm39) missense probably benign 0.00
R9550:C1s2 UTSW 6 124,605,253 (GRCm39) nonsense probably null
R9614:C1s2 UTSW 6 124,602,588 (GRCm39) missense probably damaging 1.00
X0062:C1s2 UTSW 6 124,612,049 (GRCm39) missense probably damaging 1.00
Z1177:C1s2 UTSW 6 124,602,693 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TCTCACCAGCACAGATCATG -3'
(R):5'- ATCACGGCTTTGAGACTGGC -3'

Sequencing Primer
(F):5'- CCAGCACAGATCATGTTGTCAGTG -3'
(R):5'- CTGGCTGACTTGGAAAATGCC -3'
Posted On 2022-11-14