Incidental Mutation 'R4571:C2'
| ID |
342169 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C2
|
| Ensembl Gene |
ENSMUSG00000024371 |
| Gene Name |
complement C2 |
| Synonyms |
classical-complement pathway C3/C5 convertase |
| MMRRC Submission |
041795-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R4571 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35081578-35101076 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35082635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 495
(N495D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025229]
[ENSMUST00000025230]
[ENSMUST00000128767]
[ENSMUST00000148431]
[ENSMUST00000146299]
[ENSMUST00000152417]
[ENSMUST00000154526]
[ENSMUST00000176203]
|
| AlphaFold |
P21180 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025229
|
| SMART Domains |
Protein: ENSMUSP00000025229
Gene: ENSMUSG00000090231
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000025230
AA Change: N632D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025230
Gene: ENSMUSG00000024371
AA Change: N632D
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: N248D
|
| SMART Domains |
Protein: ENSMUSP00000120864
Gene: ENSMUSG00000092511
AA Change: N248D
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000133127
|
| SMART Domains |
Protein: ENSMUSP00000118360
Gene: ENSMUSG00000090231
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2WIN|L
|
2 |
43 |
2e-20 |
PDB |
|
Blast:VWA
|
13 |
44 |
9e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134300
|
| SMART Domains |
Protein: ENSMUSP00000114241
Gene: ENSMUSG00000024371
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
3 |
148 |
6.48e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148431
AA Change: N355D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120009
Gene: ENSMUSG00000024371
AA Change: N355D
| Domain | Start | End | E-Value | Type |
|---|
|
VWA
|
33 |
187 |
2.33e0 |
SMART |
|
Tryp_SPc
|
191 |
470 |
4.43e-26 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000146299
AA Change: N479D
|
| SMART Domains |
Protein: ENSMUSP00000117677
Gene: ENSMUSG00000092511
AA Change: N479D
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000152417
AA Change: N495D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000123536
Gene: ENSMUSG00000024371
AA Change: N495D
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000154526
|
| SMART Domains |
Protein: ENSMUSP00000120990
Gene: ENSMUSG00000090231
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176203
|
| SMART Domains |
Protein: ENSMUSP00000135660
Gene: ENSMUSG00000090231
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000141295
|
| SMART Domains |
Protein: ENSMUSP00000118945
Gene: ENSMUSG00000090231
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
18 |
258 |
3.76e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176332
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (69/69) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,920,884 (GRCm39) |
C1497S |
probably damaging |
Het |
| Acoxl |
G |
T |
2: 127,719,727 (GRCm39) |
G163W |
probably damaging |
Het |
| Apbb1 |
T |
A |
7: 105,222,969 (GRCm39) |
N214I |
probably damaging |
Het |
| Apol7b |
T |
C |
15: 77,307,734 (GRCm39) |
K254E |
probably benign |
Het |
| Arl4d |
T |
A |
11: 101,557,969 (GRCm39) |
V165E |
possibly damaging |
Het |
| Brca1 |
C |
A |
11: 101,408,192 (GRCm39) |
R1377L |
probably benign |
Het |
| Btf3 |
A |
G |
13: 98,449,792 (GRCm39) |
F65L |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,607,341 (GRCm39) |
T1188A |
probably benign |
Het |
| Chd7 |
C |
A |
4: 8,866,217 (GRCm39) |
D796E |
probably benign |
Het |
| Clasp2 |
G |
T |
9: 113,676,789 (GRCm39) |
L173F |
probably damaging |
Het |
| Clec4g |
A |
T |
8: 3,768,766 (GRCm39) |
|
probably null |
Het |
| Col9a3 |
T |
C |
2: 180,258,159 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
T |
A |
4: 128,373,888 (GRCm39) |
|
probably null |
Het |
| Ddx11 |
T |
C |
17: 66,437,768 (GRCm39) |
C165R |
probably benign |
Het |
| Dnah7c |
A |
C |
1: 46,572,376 (GRCm39) |
M950L |
probably damaging |
Het |
| Dusp23 |
A |
C |
1: 172,460,181 (GRCm39) |
|
probably null |
Het |
| Ebag9 |
A |
T |
15: 44,500,158 (GRCm39) |
|
probably null |
Het |
| Edn3 |
G |
A |
2: 174,623,697 (GRCm39) |
A211T |
probably benign |
Het |
| Eif3e |
G |
A |
15: 43,129,558 (GRCm39) |
T190I |
possibly damaging |
Het |
| Fam76a |
T |
C |
4: 132,648,208 (GRCm39) |
H3R |
possibly damaging |
Het |
| Gabbr1 |
G |
T |
17: 37,365,128 (GRCm39) |
E138* |
probably null |
Het |
| Galc |
T |
C |
12: 98,188,876 (GRCm39) |
T412A |
probably benign |
Het |
| Gimap3 |
T |
C |
6: 48,742,654 (GRCm39) |
D92G |
possibly damaging |
Het |
| Gin1 |
T |
C |
1: 97,712,801 (GRCm39) |
Y285H |
probably damaging |
Het |
| Gm4868 |
A |
G |
5: 125,925,782 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7052 |
T |
A |
17: 22,259,405 (GRCm39) |
|
probably benign |
Het |
| Gpcpd1 |
T |
A |
2: 132,392,270 (GRCm39) |
E226D |
probably benign |
Het |
| Hoxb4 |
T |
C |
11: 96,209,992 (GRCm39) |
S133P |
possibly damaging |
Het |
| Hrg |
C |
T |
16: 22,779,972 (GRCm39) |
|
probably benign |
Het |
| Insrr |
A |
G |
3: 87,708,194 (GRCm39) |
K212R |
probably benign |
Het |
| Ipp |
A |
G |
4: 116,387,655 (GRCm39) |
D411G |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,902,461 (GRCm39) |
F172L |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 927,110 (GRCm39) |
F616S |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,361,295 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
G |
T |
14: 102,125,030 (GRCm39) |
Q496H |
probably damaging |
Het |
| Map3k9 |
C |
A |
12: 81,780,865 (GRCm39) |
A432S |
probably benign |
Het |
| Nop2 |
T |
G |
6: 125,117,844 (GRCm39) |
|
probably null |
Het |
| Nup50l |
T |
A |
6: 96,141,862 (GRCm39) |
N394I |
probably damaging |
Het |
| Or10ag53 |
C |
A |
2: 87,082,802 (GRCm39) |
Q174K |
possibly damaging |
Het |
| Or2h2 |
T |
C |
17: 37,396,471 (GRCm39) |
I195M |
probably damaging |
Het |
| Or5m11b |
A |
T |
2: 85,806,175 (GRCm39) |
E196V |
probably damaging |
Het |
| Or6k2 |
A |
T |
1: 173,986,494 (GRCm39) |
N52Y |
possibly damaging |
Het |
| Pan2 |
A |
G |
10: 128,144,512 (GRCm39) |
T187A |
probably benign |
Het |
| Pcmtd2 |
A |
G |
2: 181,484,217 (GRCm39) |
E9G |
possibly damaging |
Het |
| Pik3cb |
T |
A |
9: 98,972,310 (GRCm39) |
I283F |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,683,633 (GRCm39) |
T40I |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,493,296 (GRCm39) |
V1857A |
possibly damaging |
Het |
| Polg |
T |
C |
7: 79,110,127 (GRCm39) |
S334G |
probably damaging |
Het |
| Rem2 |
T |
C |
14: 54,715,116 (GRCm39) |
S98P |
probably damaging |
Het |
| Rpl5-ps2 |
G |
T |
2: 154,546,156 (GRCm39) |
|
noncoding transcript |
Het |
| Slc6a18 |
A |
T |
13: 73,814,489 (GRCm39) |
N468K |
possibly damaging |
Het |
| Slco4a1 |
A |
T |
2: 180,106,171 (GRCm39) |
T118S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,738,688 (GRCm39) |
N3520K |
possibly damaging |
Het |
| Tapbp |
C |
A |
17: 34,145,427 (GRCm39) |
D415E |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,576,501 (GRCm39) |
T31A |
probably benign |
Het |
| Trpv6 |
C |
T |
6: 41,598,678 (GRCm39) |
R649H |
probably damaging |
Het |
| Vmn1r188 |
A |
G |
13: 22,272,688 (GRCm39) |
Y214C |
probably benign |
Het |
| Vps8 |
T |
A |
16: 21,254,525 (GRCm39) |
I59N |
probably damaging |
Het |
| Wnt9a |
T |
C |
11: 59,222,163 (GRCm39) |
C354R |
probably damaging |
Het |
| Zcchc2 |
A |
G |
1: 105,958,987 (GRCm39) |
T1153A |
possibly damaging |
Het |
| Zfp30 |
A |
G |
7: 29,492,627 (GRCm39) |
R294G |
probably damaging |
Het |
| Zfp558 |
A |
T |
9: 18,367,799 (GRCm39) |
C330S |
possibly damaging |
Het |
| Zfp62 |
A |
C |
11: 49,106,568 (GRCm39) |
S220R |
probably damaging |
Het |
| Zfp62 |
G |
T |
11: 49,106,569 (GRCm39) |
S220I |
probably damaging |
Het |
| Zp3r |
A |
G |
1: 130,505,757 (GRCm39) |
S423P |
probably damaging |
Het |
|
| Other mutations in C2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02191:C2
|
APN |
17 |
35,085,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATACACCTTGTCCACTGCG -3'
(R):5'- AAGATCATGGTGAGTGCTGG -3'
Sequencing Primer
(F):5'- ACCTTGTCCACTGCGGTGTG -3'
(R):5'- TCTTGGTGGGTTGCAGCCAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation