Incidental Mutation 'IGL02191:C2'
ID 283860
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C2
Ensembl Gene ENSMUSG00000024371
Gene Name complement C2
Synonyms classical-complement pathway C3/C5 convertase
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # IGL02191
Quality Score
Status
Chromosome 17
Chromosomal Location 35081578-35101076 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35085539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 122 (I122V)
Ref Sequence ENSEMBL: ENSMUSP00000120009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025229] [ENSMUST00000025230] [ENSMUST00000128767] [ENSMUST00000146299] [ENSMUST00000152417] [ENSMUST00000148431] [ENSMUST00000176203] [ENSMUST00000154526]
AlphaFold P21180
Predicted Effect probably benign
Transcript: ENSMUST00000025229
SMART Domains Protein: ENSMUSP00000025229
Gene: ENSMUSG00000090231

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
CCP 36 88 5.15e-1 SMART
CCP 102 157 4.62e-15 SMART
CCP 164 217 2.06e-12 SMART
VWA 267 472 1.07e-40 SMART
Tryp_SPc 480 751 2.53e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000025230
AA Change: I399V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025230
Gene: ENSMUSG00000024371
AA Change: I399V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Blast:CCP 22 71 8e-24 BLAST
low complexity region 72 83 N/A INTRINSIC
CCP 94 149 1.34e-11 SMART
CCP 156 210 1.89e-11 SMART
Blast:VWA 219 245 1e-7 BLAST
VWA 259 464 1.32e-31 SMART
Tryp_SPc 468 747 4.43e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127795
Predicted Effect probably benign
Transcript: ENSMUST00000128767
SMART Domains Protein: ENSMUSP00000119977
Gene: ENSMUSG00000090231

DomainStartEndE-ValueType
low complexity region 6 21 N/A INTRINSIC
CCP 34 86 5.15e-1 SMART
CCP 100 155 4.62e-15 SMART
CCP 162 215 2.06e-12 SMART
VWA 265 470 1.07e-40 SMART
Tryp_SPc 478 749 2.53e-30 SMART
Predicted Effect unknown
Transcript: ENSMUST00000129891
AA Change: I62V
SMART Domains Protein: ENSMUSP00000120864
Gene: ENSMUSG00000092511
AA Change: I62V

DomainStartEndE-ValueType
Blast:VWA 2 77 8e-7 BLAST
Tryp_SPc 85 365 5.69e-8 SMART
CCP 310 365 4.62e-15 SMART
CCP 372 425 2.06e-12 SMART
VWA 475 680 1.07e-40 SMART
Tryp_SPc 688 959 2.53e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134300
SMART Domains Protein: ENSMUSP00000114241
Gene: ENSMUSG00000024371

DomainStartEndE-ValueType
Tryp_SPc 3 148 6.48e-4 SMART
Predicted Effect unknown
Transcript: ENSMUST00000146299
AA Change: I246V
SMART Domains Protein: ENSMUSP00000117677
Gene: ENSMUSG00000092511
AA Change: I246V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 72 83 N/A INTRINSIC
CCP 94 148 1.89e-11 SMART
VWA 103 311 1.74e-1 SMART
Tryp_SPc 315 547 1.49e-7 SMART
CCP 549 601 5.15e-1 SMART
CCP 615 670 4.62e-15 SMART
CCP 677 730 2.06e-12 SMART
VWA 780 985 1.07e-40 SMART
Tryp_SPc 993 1264 2.53e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000152417
AA Change: I262V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123536
Gene: ENSMUSG00000024371
AA Change: I262V

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
CCP 19 73 1.89e-11 SMART
Blast:VWA 82 108 2e-7 BLAST
VWA 122 327 1.32e-31 SMART
Tryp_SPc 331 610 4.43e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000148431
AA Change: I122V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120009
Gene: ENSMUSG00000024371
AA Change: I122V

DomainStartEndE-ValueType
VWA 33 187 2.33e0 SMART
Tryp_SPc 191 470 4.43e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176203
SMART Domains Protein: ENSMUSP00000135660
Gene: ENSMUSG00000090231

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
CCP 36 88 5.15e-1 SMART
CCP 102 157 4.62e-15 SMART
CCP 164 217 2.06e-12 SMART
VWA 267 472 1.07e-40 SMART
Tryp_SPc 480 713 5.03e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154526
SMART Domains Protein: ENSMUSP00000120990
Gene: ENSMUSG00000090231

DomainStartEndE-ValueType
low complexity region 6 21 N/A INTRINSIC
CCP 34 86 5.15e-1 SMART
CCP 100 155 4.62e-15 SMART
CCP 162 215 2.06e-12 SMART
VWA 265 470 1.07e-40 SMART
Tryp_SPc 478 711 5.03e-5 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes component C2 of the classical pathway of the complement system. The encoded protein undergoes proteolytic processing mediated by component C1 resulting in C2a and C2b fragments. C2a fragment, in turn, selectively cleaves components C3 and C5 of the complement system. Mice lacking the encoded protein are found to be more susceptible to bacterial infections. Mutations in the human homolog of this gene are associated with disorders such as systemic lupus erythematosus, Henoch-Schonlein purpura, or polymyositis. [provided by RefSeq, Mar 2015]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T C 12: 80,220,883 (GRCm39) I642V probably benign Het
Adam5 G A 8: 25,302,439 (GRCm39) R185* probably null Het
Camsap1 A G 2: 25,819,892 (GRCm39) I1531T probably damaging Het
Celsr1 T C 15: 85,863,205 (GRCm39) T1276A possibly damaging Het
Cnot7 A T 8: 40,963,068 (GRCm39) N35K probably benign Het
Cyp2a12 A G 7: 26,736,036 (GRCm39) I482V probably benign Het
Cyp3a57 A G 5: 145,302,495 (GRCm39) E97G probably damaging Het
Cyp51 C A 5: 4,150,147 (GRCm39) R192I probably benign Het
Ddx59 T C 1: 136,344,896 (GRCm39) L189P probably damaging Het
Dnah6 A G 6: 72,994,780 (GRCm39) I4127T probably benign Het
Dock3 C T 9: 106,815,340 (GRCm39) V1217I probably benign Het
Ergic2 T C 6: 148,106,319 (GRCm39) D57G probably null Het
Flvcr2 A T 12: 85,832,966 (GRCm39) K329* probably null Het
Foxp1 T C 6: 98,922,561 (GRCm39) S327G probably damaging Het
Gen1 A C 12: 11,292,297 (GRCm39) H562Q probably benign Het
Gjc2 A G 11: 59,068,386 (GRCm39) V32A probably damaging Het
Grk4 C T 5: 34,912,533 (GRCm39) H574Y probably benign Het
Kif15 T A 9: 122,804,744 (GRCm39) C93S probably damaging Het
Lrtm1 A C 14: 28,743,906 (GRCm39) I125L probably benign Het
Mrgprb8 A G 7: 48,038,527 (GRCm39) Y66C probably damaging Het
Pfn1 G A 11: 70,545,209 (GRCm39) A33V probably damaging Het
Scnn1b A C 7: 121,516,736 (GRCm39) K492Q probably damaging Het
Slc22a29 G A 19: 8,196,045 (GRCm39) probably benign Het
Spocd1 A G 4: 129,847,380 (GRCm39) D523G probably damaging Het
Tmem144 A T 3: 79,734,159 (GRCm39) D181E possibly damaging Het
Tmem220 G A 11: 66,921,933 (GRCm39) C101Y probably damaging Het
Tmpo A G 10: 90,997,741 (GRCm39) V682A probably benign Het
Wdr93 A G 7: 79,398,968 (GRCm39) K34R probably damaging Het
Zdhhc16 C A 19: 41,926,130 (GRCm39) C8* probably null Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in C2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02249:C2 APN 17 35,083,484 (GRCm39) unclassified probably benign
IGL02568:C2 APN 17 35,083,325 (GRCm39) missense possibly damaging 0.50
IGL03013:C2 APN 17 35,091,435 (GRCm39) missense probably damaging 0.98
R0142:C2 UTSW 17 35,092,504 (GRCm39) missense possibly damaging 0.53
R0619:C2 UTSW 17 35,091,479 (GRCm39) missense probably damaging 1.00
R1401:C2 UTSW 17 35,091,457 (GRCm39) missense possibly damaging 0.71
R1639:C2 UTSW 17 35,091,379 (GRCm39) missense probably benign 0.02
R1808:C2 UTSW 17 35,083,508 (GRCm39) missense probably damaging 1.00
R2133:C2 UTSW 17 35,098,878 (GRCm39) missense probably damaging 1.00
R2860:C2 UTSW 17 35,082,854 (GRCm39) missense possibly damaging 0.94
R2861:C2 UTSW 17 35,082,854 (GRCm39) missense possibly damaging 0.94
R3882:C2 UTSW 17 35,092,465 (GRCm39) missense probably benign 0.00
R4571:C2 UTSW 17 35,082,635 (GRCm39) missense probably benign 0.00
R4622:C2 UTSW 17 35,082,650 (GRCm39) missense probably damaging 0.99
R5611:C2 UTSW 17 35,091,360 (GRCm39) missense probably damaging 0.99
R5767:C2 UTSW 17 35,095,432 (GRCm39) missense possibly damaging 0.58
R6327:C2 UTSW 17 35,083,079 (GRCm39) missense probably benign 0.41
R6448:C2 UTSW 17 35,082,335 (GRCm39) missense possibly damaging 0.67
R6518:C2 UTSW 17 35,083,094 (GRCm39) missense probably damaging 1.00
R6929:C2 UTSW 17 35,083,323 (GRCm39) missense possibly damaging 0.68
R7324:C2 UTSW 17 35,100,664 (GRCm39) missense probably benign 0.13
R7446:C2 UTSW 17 35,094,986 (GRCm39) missense probably damaging 1.00
R7456:C2 UTSW 17 35,083,558 (GRCm39) missense probably damaging 1.00
R7479:C2 UTSW 17 35,082,441 (GRCm39) missense probably damaging 1.00
R7807:C2 UTSW 17 35,095,347 (GRCm39) missense possibly damaging 0.79
R7943:C2 UTSW 17 35,091,354 (GRCm39) missense probably damaging 1.00
R9235:C2 UTSW 17 35,083,845 (GRCm39) missense probably damaging 1.00
R9397:C2 UTSW 17 35,094,965 (GRCm39) missense probably damaging 1.00
R9452:C2 UTSW 17 35,095,319 (GRCm39) missense probably benign 0.01
R9605:C2 UTSW 17 35,081,958 (GRCm39) missense possibly damaging 0.88
Posted On 2015-04-16