Incidental Mutation 'IGL03086:Cd300c2'
| ID |
418098 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd300c2
|
| Ensembl Gene |
ENSMUSG00000044811 |
| Gene Name |
CD300C molecule 2 |
| Synonyms |
MAIR-II, Cd300d, Igsf7, LMIR2, DIgR1, AF251705, Clm4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03086
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
114887595-114892706 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114891649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 75
(E75G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092464]
[ENSMUST00000141188]
|
| AlphaFold |
Q7TSN2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092464
AA Change: E75G
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000090121
Gene: ENSMUSG00000044811
AA Change: E75G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IG
|
28 |
134 |
1.52e-3 |
SMART |
|
transmembrane domain
|
187 |
209 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141188
|
| SMART Domains |
Protein: ENSMUSP00000124035
Gene: ENSMUSG00000044811
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased stimulated B cell proliferation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankar |
A |
G |
1: 72,682,437 (GRCm39) |
I1158T |
possibly damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,621,249 (GRCm39) |
S868P |
probably damaging |
Het |
| Atad3a |
C |
T |
4: 155,833,127 (GRCm39) |
|
probably null |
Het |
| Cadm4 |
A |
T |
7: 24,200,240 (GRCm39) |
N250Y |
probably damaging |
Het |
| Cdc23 |
A |
C |
18: 34,770,239 (GRCm39) |
|
probably benign |
Het |
| Cep97 |
A |
G |
16: 55,735,659 (GRCm39) |
S380P |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,400,621 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,960,061 (GRCm39) |
|
probably benign |
Het |
| Dclk1 |
G |
A |
3: 55,154,788 (GRCm39) |
V73M |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,961,754 (GRCm39) |
L2297P |
probably damaging |
Het |
| Eif2a |
A |
G |
3: 58,448,538 (GRCm39) |
I124V |
probably benign |
Het |
| Fam227b |
A |
T |
2: 125,960,951 (GRCm39) |
I226K |
probably benign |
Het |
| Fcgr1 |
G |
T |
3: 96,191,814 (GRCm39) |
Y331* |
probably null |
Het |
| Helq |
T |
C |
5: 100,944,793 (GRCm39) |
T106A |
possibly damaging |
Het |
| Ly9 |
A |
T |
1: 171,432,738 (GRCm39) |
Y92N |
probably benign |
Het |
| Myom1 |
G |
A |
17: 71,415,666 (GRCm39) |
C1256Y |
probably damaging |
Het |
| Ndc80 |
G |
A |
17: 71,827,920 (GRCm39) |
T104I |
probably benign |
Het |
| Or1x2 |
T |
A |
11: 50,918,557 (GRCm39) |
C243S |
probably damaging |
Het |
| Or2y1d |
A |
G |
11: 49,321,632 (GRCm39) |
T110A |
probably benign |
Het |
| Or51a8 |
T |
C |
7: 102,549,613 (GRCm39) |
F13S |
probably damaging |
Het |
| Or5e1 |
A |
T |
7: 108,355,003 (GRCm39) |
|
probably benign |
Het |
| Phtf2 |
T |
C |
5: 20,969,273 (GRCm39) |
N679S |
probably damaging |
Het |
| Polq |
G |
A |
16: 36,911,411 (GRCm39) |
R2382K |
probably benign |
Het |
| Recql4 |
C |
T |
15: 76,590,468 (GRCm39) |
R672Q |
probably benign |
Het |
| Selenbp2 |
A |
G |
3: 94,606,945 (GRCm39) |
N197S |
probably damaging |
Het |
| Sirpb1a |
C |
A |
3: 15,491,388 (GRCm39) |
|
probably null |
Het |
| Slc12a2 |
T |
A |
18: 58,054,856 (GRCm39) |
D832E |
probably benign |
Het |
| Slc13a1 |
G |
A |
6: 24,118,002 (GRCm39) |
A245V |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,548,633 (GRCm39) |
D635G |
probably damaging |
Het |
| Utp18 |
T |
C |
11: 93,766,882 (GRCm39) |
Q275R |
probably damaging |
Het |
| Wdr35 |
A |
G |
12: 9,058,692 (GRCm39) |
|
probably null |
Het |
| Zfyve26 |
A |
G |
12: 79,342,338 (GRCm39) |
V36A |
probably damaging |
Het |
|
| Other mutations in Cd300c2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Cd300c2
|
APN |
11 |
114,892,375 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02695:Cd300c2
|
APN |
11 |
114,892,379 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1933:Cd300c2
|
UTSW |
11 |
114,891,685 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4707:Cd300c2
|
UTSW |
11 |
114,887,811 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4866:Cd300c2
|
UTSW |
11 |
114,891,807 (GRCm39) |
nonsense |
probably null |
|
|
R4900:Cd300c2
|
UTSW |
11 |
114,891,807 (GRCm39) |
nonsense |
probably null |
|
|
R4906:Cd300c2
|
UTSW |
11 |
114,887,826 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4908:Cd300c2
|
UTSW |
11 |
114,887,772 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4946:Cd300c2
|
UTSW |
11 |
114,887,731 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5568:Cd300c2
|
UTSW |
11 |
114,891,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6870:Cd300c2
|
UTSW |
11 |
114,891,503 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7474:Cd300c2
|
UTSW |
11 |
114,889,122 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7826:Cd300c2
|
UTSW |
11 |
114,891,644 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8210:Cd300c2
|
UTSW |
11 |
114,891,634 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8443:Cd300c2
|
UTSW |
11 |
114,891,466 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8831:Cd300c2
|
UTSW |
11 |
114,891,844 (GRCm39) |
nonsense |
probably null |
|
|
R9405:Cd300c2
|
UTSW |
11 |
114,891,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9762:Cd300c2
|
UTSW |
11 |
114,887,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation