Incidental Mutation 'R2399:Cd93'
| ID |
248623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd93
|
| Ensembl Gene |
ENSMUSG00000027435 |
| Gene Name |
CD93 antigen |
| Synonyms |
C1qrp, Ly68, 6030404G09Rik, AA4.1, C1qr1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R2399 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
148278571-148285455 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 148284071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 425
(I425T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099269]
|
| AlphaFold |
O89103 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099269
AA Change: I425T
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000096876
Gene: ENSMUSG00000027435
AA Change: I425T
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
23 |
180 |
5.04e-7 |
SMART |
|
EGF
|
260 |
298 |
2.56e-3 |
SMART |
|
EGF
|
302 |
341 |
3.73e-5 |
SMART |
|
EGF_CA
|
342 |
381 |
1.33e-10 |
SMART |
|
EGF_CA
|
382 |
423 |
4.38e-11 |
SMART |
|
EGF_CA
|
424 |
465 |
1.33e-10 |
SMART |
|
low complexity region
|
488 |
501 |
N/A |
INTRINSIC |
|
transmembrane domain
|
576 |
598 |
N/A |
INTRINSIC |
|
low complexity region
|
604 |
612 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cell-surface glycoprotein and type I membrane protein that was originally identified as a myeloid cell-specific marker. The encoded protein was once thought to be a receptor for C1q, but now is thought to instead be involved in intercellular adhesion and in the clearance of apoptotic cells. The intracellular cytoplasmic tail of this protein has been found to interact with moesin, a protein known to play a role in linking transmembrane proteins to the cytoskeleton and in the remodelling of the cytoskeleton. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants have a defect in clearance of apoptotic cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
G |
5: 88,120,338 (GRCm39) |
E365G |
probably damaging |
Het |
| Abtb1 |
G |
A |
6: 88,815,720 (GRCm39) |
T221M |
possibly damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,835,785 (GRCm39) |
I510N |
probably benign |
Het |
| Atr |
T |
A |
9: 95,753,652 (GRCm39) |
H751Q |
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,774,444 (GRCm39) |
D1650G |
probably benign |
Het |
| Dpep2 |
A |
G |
8: 106,716,224 (GRCm39) |
S135P |
probably damaging |
Het |
| Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
| Heatr4 |
T |
C |
12: 84,027,107 (GRCm39) |
H50R |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,650,358 (GRCm39) |
Y135H |
probably damaging |
Het |
| Kat6b |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
14: 21,712,417 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
T |
C |
16: 48,957,952 (GRCm39) |
I923T |
probably damaging |
Het |
| Or5b108 |
T |
A |
19: 13,168,709 (GRCm39) |
I226K |
probably benign |
Het |
| Or7e170 |
C |
T |
9: 19,795,220 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or7g16 |
T |
A |
9: 18,727,323 (GRCm39) |
D89V |
probably benign |
Het |
| Styxl1 |
C |
T |
5: 135,776,635 (GRCm39) |
E318K |
possibly damaging |
Het |
| Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
| Zc3h7a |
G |
A |
16: 10,965,265 (GRCm39) |
R623C |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,030,974 (GRCm39) |
K989E |
probably damaging |
Het |
|
| Other mutations in Cd93 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0076:Cd93
|
UTSW |
2 |
148,284,056 (GRCm39) |
missense |
probably benign |
|
|
R0379:Cd93
|
UTSW |
2 |
148,283,430 (GRCm39) |
splice site |
probably benign |
|
|
R1951:Cd93
|
UTSW |
2 |
148,283,778 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4231:Cd93
|
UTSW |
2 |
148,284,880 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4830:Cd93
|
UTSW |
2 |
148,285,299 (GRCm39) |
nonsense |
probably null |
|
|
R5940:Cd93
|
UTSW |
2 |
148,284,152 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6057:Cd93
|
UTSW |
2 |
148,283,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6797:Cd93
|
UTSW |
2 |
148,284,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7142:Cd93
|
UTSW |
2 |
148,283,725 (GRCm39) |
nonsense |
probably null |
|
|
R7184:Cd93
|
UTSW |
2 |
148,284,459 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7276:Cd93
|
UTSW |
2 |
148,283,660 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7315:Cd93
|
UTSW |
2 |
148,284,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8750:Cd93
|
UTSW |
2 |
148,285,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8897:Cd93
|
UTSW |
2 |
148,283,532 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9069:Cd93
|
UTSW |
2 |
148,284,071 (GRCm39) |
missense |
probably benign |
0.37 |
|
Z1088:Cd93
|
UTSW |
2 |
148,284,284 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGGCATAGTACTCTCCTTTC -3'
(R):5'- AGGGAGCTTCCACTGTGAATG -3'
Sequencing Primer
(F):5'- GGCATAGTACTCTCCTTTCTGTCATC -3'
(R):5'- AGCTTCCACTGTGAATGTTGGG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation