Incidental Mutation 'R1338:C5ar1'
| ID |
156939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C5ar1
|
| Ensembl Gene |
ENSMUSG00000049130 |
| Gene Name |
complement component 5a receptor 1 |
| Synonyms |
C5aR, D7Msu1, C5r1, Cd88 |
| MMRRC Submission |
039403-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R1338 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
15980668-15993465 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 15982260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 253
(F253L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050770]
[ENSMUST00000168818]
[ENSMUST00000171425]
[ENSMUST00000209442]
|
| AlphaFold |
P30993 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050770
AA Change: F253L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060003
Gene: ENSMUSG00000049130
AA Change: F253L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
48 |
312 |
2.2e-5 |
PFAM |
|
Pfam:7tm_1
|
54 |
301 |
9.4e-41 |
PFAM |
|
low complexity region
|
332 |
348 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168818
AA Change: F253L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129972
Gene: ENSMUSG00000049130
AA Change: F253L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
48 |
312 |
2e-5 |
PFAM |
|
Pfam:7tm_1
|
54 |
301 |
9.2e-52 |
PFAM |
|
low complexity region
|
332 |
348 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171425
|
| SMART Domains |
Protein: ENSMUSP00000133056
Gene: ENSMUSG00000074361
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
68 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
72 |
257 |
7e-21 |
PFAM |
|
Pfam:7tm_1
|
243 |
311 |
8.2e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209442
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.7%
- 20x: 88.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous targeted mutants have impaired C5 responses that can show increased or decreased acute inflammation under different circumstances, and thus affect severity of disease or infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap12 |
G |
T |
10: 4,263,773 (GRCm39) |
V61F |
possibly damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,888,829 (GRCm39) |
D459E |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 37,106,684 (GRCm39) |
H5005Y |
unknown |
Het |
| Brdt |
C |
A |
5: 107,498,054 (GRCm39) |
P243Q |
probably benign |
Het |
| Cep104 |
T |
G |
4: 154,078,965 (GRCm39) |
V323G |
probably benign |
Het |
| Col11a1 |
A |
T |
3: 114,010,644 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,836,387 (GRCm39) |
Y4039F |
probably benign |
Het |
| Lmcd1 |
A |
C |
6: 112,282,089 (GRCm39) |
H41P |
probably damaging |
Het |
| Or9s18 |
T |
C |
13: 65,300,197 (GRCm39) |
L53P |
probably damaging |
Het |
| P2ry13 |
T |
C |
3: 59,117,710 (GRCm39) |
T23A |
probably benign |
Het |
| Pcdhb14 |
A |
T |
18: 37,582,943 (GRCm39) |
E683V |
probably benign |
Het |
| Pck1 |
G |
A |
2: 173,000,203 (GRCm39) |
E545K |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,390,120 (GRCm39) |
V1412A |
probably damaging |
Het |
| Rnf139 |
T |
C |
15: 58,771,064 (GRCm39) |
V363A |
probably damaging |
Het |
| Serpinh1 |
A |
G |
7: 98,998,118 (GRCm39) |
S171P |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,870,158 (GRCm39) |
K600R |
possibly damaging |
Het |
| Slc7a1 |
C |
T |
5: 148,282,746 (GRCm39) |
E34K |
probably damaging |
Het |
| Spata31d1b |
AGGG |
AGG |
13: 59,865,975 (GRCm39) |
|
probably null |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Ttc6 |
A |
T |
12: 57,663,155 (GRCm39) |
N317I |
probably benign |
Het |
| Zan |
A |
T |
5: 137,391,913 (GRCm39) |
C4627* |
probably null |
Het |
| Zfhx4 |
T |
C |
3: 5,462,021 (GRCm39) |
V1232A |
possibly damaging |
Het |
|
| Other mutations in C5ar1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0135:C5ar1
|
UTSW |
7 |
15,982,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1527:C5ar1
|
UTSW |
7 |
15,982,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4477:C5ar1
|
UTSW |
7 |
15,982,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4812:C5ar1
|
UTSW |
7 |
15,982,258 (GRCm39) |
splice site |
probably null |
|
|
R5795:C5ar1
|
UTSW |
7 |
15,982,319 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5963:C5ar1
|
UTSW |
7 |
15,982,747 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6993:C5ar1
|
UTSW |
7 |
15,982,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7294:C5ar1
|
UTSW |
7 |
15,982,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7464:C5ar1
|
UTSW |
7 |
15,982,691 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7619:C5ar1
|
UTSW |
7 |
15,982,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8520:C5ar1
|
UTSW |
7 |
15,982,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8934:C5ar1
|
UTSW |
7 |
15,982,402 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAAAGTCTTGCTATCCCTGCCC -3'
(R):5'- AGCTTCCCCAAAGAGAAGGCTGTG -3'
Sequencing Primer
(F):5'- TGAATCCTCAGAGAGAGCGTTTC -3'
(R):5'- GTTGCCTCTGCTCACTCTAA -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation