Incidental Mutation 'R6636:C3ar1'
| ID |
525459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C3ar1
|
| Ensembl Gene |
ENSMUSG00000040552 |
| Gene Name |
complement component 3a receptor 1 |
| Synonyms |
C3aR, anaphylatoxin C3a receptor |
| MMRRC Submission |
044757-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6636 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
122824099-122833116 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122828013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 68
(D68G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048092
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042081]
|
| AlphaFold |
O09047 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042081
AA Change: D68G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048092
Gene: ENSMUSG00000040552
AA Change: D68G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
40 |
193 |
8.1e-25 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
281 |
443 |
7.8e-8 |
PFAM |
|
Pfam:7tm_1
|
313 |
428 |
6.5e-17 |
PFAM |
|
| Meta Mutation Damage Score |
0.9042 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] C3a is an anaphylatoxin released during activation of the complement system. The protein encoded by this gene is an orphan G protein-coupled receptor for C3a. Binding of C3a by the encoded receptor activates chemotaxis, granule enzyme release, superoxide anion production, and bacterial opsonization. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous targeted mutants display protective effects against the changes in lung physiology after allergen challenge, increased lethality to endotoxin shock, and elevated IL1B following LPS challenge, supporting the role of C3arin proinflammatory responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
G |
15: 64,659,251 (GRCm39) |
V513A |
probably damaging |
Het |
| Adgrl4 |
G |
A |
3: 151,223,410 (GRCm39) |
W621* |
probably null |
Het |
| Ap4m1 |
A |
G |
5: 138,170,437 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b2 |
T |
C |
8: 69,554,026 (GRCm39) |
Y68H |
probably damaging |
Het |
| AY761185 |
T |
A |
8: 21,434,556 (GRCm39) |
|
probably null |
Het |
| Cdh10 |
A |
T |
15: 18,985,259 (GRCm39) |
I308F |
probably damaging |
Het |
| Coq8a |
A |
T |
1: 180,006,552 (GRCm39) |
S112T |
probably benign |
Het |
| Dmgdh |
A |
T |
13: 93,845,706 (GRCm39) |
E453D |
probably benign |
Het |
| Fryl |
C |
A |
5: 73,290,655 (GRCm39) |
R83L |
probably benign |
Het |
| Gm4861 |
C |
T |
3: 137,256,760 (GRCm39) |
|
probably null |
Het |
| Gnai1 |
T |
C |
5: 18,478,472 (GRCm39) |
D231G |
probably damaging |
Het |
| Hfe |
C |
G |
13: 23,890,778 (GRCm39) |
E120D |
possibly damaging |
Het |
| Hfe |
T |
C |
13: 23,890,779 (GRCm39) |
E120G |
possibly damaging |
Het |
| Hgd |
A |
G |
16: 37,435,736 (GRCm39) |
N149S |
possibly damaging |
Het |
| Kcnb1 |
T |
C |
2: 166,947,774 (GRCm39) |
D358G |
probably damaging |
Het |
| Lama2 |
C |
A |
10: 27,000,564 (GRCm39) |
V1653L |
probably benign |
Het |
| Lamc1 |
A |
T |
1: 153,117,721 (GRCm39) |
I947N |
possibly damaging |
Het |
| Lamp3 |
A |
G |
16: 19,519,983 (GRCm39) |
F67L |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,922,612 (GRCm39) |
I132V |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,575,255 (GRCm39) |
P1280L |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,372,342 (GRCm39) |
Y2659H |
possibly damaging |
Het |
| Nmbr |
T |
C |
10: 14,645,978 (GRCm39) |
S168P |
probably benign |
Het |
| Nsl1 |
A |
G |
1: 190,807,324 (GRCm39) |
T168A |
probably benign |
Het |
| Or2g7 |
G |
A |
17: 38,378,115 (GRCm39) |
D18N |
probably damaging |
Het |
| Or4a27 |
T |
C |
2: 88,559,185 (GRCm39) |
I253V |
probably benign |
Het |
| Or5b113 |
T |
C |
19: 13,342,589 (GRCm39) |
V199A |
probably benign |
Het |
| Or8s5 |
A |
G |
15: 98,238,831 (GRCm39) |
F13S |
probably benign |
Het |
| Pde1c |
A |
C |
6: 56,157,087 (GRCm39) |
V191G |
probably damaging |
Het |
| Proc |
T |
A |
18: 32,256,813 (GRCm39) |
I285F |
probably benign |
Het |
| R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Spa17 |
A |
T |
9: 37,523,270 (GRCm39) |
S6T |
probably benign |
Het |
| Spp1 |
T |
C |
5: 104,588,396 (GRCm39) |
V267A |
possibly damaging |
Het |
| Stk17b |
A |
T |
1: 53,800,247 (GRCm39) |
Y244N |
probably damaging |
Het |
| Tal1 |
A |
G |
4: 114,925,789 (GRCm39) |
N286S |
probably damaging |
Het |
| Tgm7 |
T |
A |
2: 120,931,571 (GRCm39) |
R197S |
probably damaging |
Het |
| Tmcc3 |
T |
A |
10: 94,414,286 (GRCm39) |
V27E |
probably benign |
Het |
| Topaz1 |
A |
T |
9: 122,578,851 (GRCm39) |
Q587L |
probably benign |
Het |
| Trim33 |
C |
T |
3: 103,261,035 (GRCm39) |
A1061V |
probably damaging |
Het |
| Ttll1 |
C |
G |
15: 83,384,147 (GRCm39) |
W160S |
probably damaging |
Het |
| Utp25 |
A |
T |
1: 192,796,075 (GRCm39) |
F197I |
probably damaging |
Het |
| Wnt7a |
A |
G |
6: 91,371,540 (GRCm39) |
Y141H |
probably benign |
Het |
|
| Other mutations in C3ar1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01818:C3ar1
|
APN |
6 |
122,827,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01936:C3ar1
|
APN |
6 |
122,828,194 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01998:C3ar1
|
APN |
6 |
122,827,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02351:C3ar1
|
APN |
6 |
122,826,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02358:C3ar1
|
APN |
6 |
122,826,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02399:C3ar1
|
APN |
6 |
122,826,838 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4618001:C3ar1
|
UTSW |
6 |
122,827,746 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0014:C3ar1
|
UTSW |
6 |
122,827,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0195:C3ar1
|
UTSW |
6 |
122,828,114 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0257:C3ar1
|
UTSW |
6 |
122,827,746 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0344:C3ar1
|
UTSW |
6 |
122,827,731 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4345:C3ar1
|
UTSW |
6 |
122,827,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4614:C3ar1
|
UTSW |
6 |
122,827,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4643:C3ar1
|
UTSW |
6 |
122,827,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4840:C3ar1
|
UTSW |
6 |
122,827,723 (GRCm39) |
missense |
probably benign |
|
|
R5235:C3ar1
|
UTSW |
6 |
122,827,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5303:C3ar1
|
UTSW |
6 |
122,826,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5610:C3ar1
|
UTSW |
6 |
122,827,537 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5762:C3ar1
|
UTSW |
6 |
122,827,321 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5873:C3ar1
|
UTSW |
6 |
122,827,381 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5877:C3ar1
|
UTSW |
6 |
122,827,581 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6327:C3ar1
|
UTSW |
6 |
122,827,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6440:C3ar1
|
UTSW |
6 |
122,827,467 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6505:C3ar1
|
UTSW |
6 |
122,827,599 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6755:C3ar1
|
UTSW |
6 |
122,826,817 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6953:C3ar1
|
UTSW |
6 |
122,827,591 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7985:C3ar1
|
UTSW |
6 |
122,826,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8049:C3ar1
|
UTSW |
6 |
122,827,059 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8936:C3ar1
|
UTSW |
6 |
122,828,044 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9337:C3ar1
|
UTSW |
6 |
122,827,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0065:C3ar1
|
UTSW |
6 |
122,827,724 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCGATGATTCTGGCACCAG -3'
(R):5'- GGAGTCTTTCGATGCTGACAC -3'
Sequencing Primer
(F):5'- GCACCAGATTGGCTTATGTAC -3'
(R):5'- TTCGATGCTGACACCAATTCAACTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation