Incidental Mutation 'R1393:Cd300ld2'
| ID |
162707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd300ld2
|
| Ensembl Gene |
ENSMUSG00000089753 |
| Gene Name |
CD300 molecule like family member D2 |
| Synonyms |
Gm11709 |
| MMRRC Submission |
039455-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1393 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
114901161-114907019 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 114903404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092463]
[ENSMUST00000106578]
|
| AlphaFold |
A2A7W0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092463
|
| SMART Domains |
Protein: ENSMUSP00000090120
Gene: ENSMUSG00000089753
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
25 |
124 |
2.11e-2 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000106578
AA Change: P147L
|
| SMART Domains |
Protein: ENSMUSP00000102188
Gene: ENSMUSG00000089753
AA Change: P147L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
25 |
124 |
2.11e-2 |
SMART |
|
low complexity region
|
131 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
222 |
N/A |
INTRINSIC |
|
transmembrane domain
|
240 |
262 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,379,180 (GRCm39) |
N682S |
probably benign |
Het |
| Acta2 |
G |
A |
19: 34,219,192 (GRCm39) |
R337C |
probably damaging |
Het |
| Anxa5 |
G |
A |
3: 36,507,658 (GRCm39) |
T194I |
probably damaging |
Het |
| Atf1 |
A |
G |
15: 100,130,647 (GRCm39) |
T6A |
possibly damaging |
Het |
| Atg4d |
T |
A |
9: 21,182,129 (GRCm39) |
Y317N |
probably damaging |
Het |
| Bcl6 |
A |
G |
16: 23,796,316 (GRCm39) |
V37A |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,987,716 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Chad |
A |
T |
11: 94,456,140 (GRCm39) |
M73L |
probably benign |
Het |
| Copz1 |
A |
G |
15: 103,203,171 (GRCm39) |
N95S |
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,456,818 (GRCm39) |
V717A |
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,788,548 (GRCm39) |
G140R |
probably damaging |
Het |
| Gm14226 |
A |
T |
2: 154,866,111 (GRCm39) |
S23C |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,614,405 (GRCm39) |
E545G |
probably damaging |
Het |
| Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
| Or6c215 |
A |
G |
10: 129,637,801 (GRCm39) |
F198L |
probably benign |
Het |
| Patj |
G |
A |
4: 98,312,648 (GRCm39) |
V329I |
probably benign |
Het |
| Ptcd3 |
T |
A |
6: 71,866,605 (GRCm39) |
T404S |
probably benign |
Het |
| Rasa1 |
A |
G |
13: 85,371,641 (GRCm39) |
C867R |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Rsad2 |
T |
C |
12: 26,506,376 (GRCm39) |
S15G |
probably damaging |
Het |
| Serpina12 |
T |
C |
12: 104,004,009 (GRCm39) |
I208V |
possibly damaging |
Het |
| Spock1 |
A |
T |
13: 58,055,268 (GRCm39) |
L45Q |
probably damaging |
Het |
| Stat3 |
A |
T |
11: 100,779,591 (GRCm39) |
|
probably null |
Het |
| Zfp810 |
T |
C |
9: 22,191,810 (GRCm39) |
D90G |
probably benign |
Het |
|
| Other mutations in Cd300ld2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01012:Cd300ld2
|
APN |
11 |
114,903,123 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01450:Cd300ld2
|
APN |
11 |
114,903,369 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01452:Cd300ld2
|
APN |
11 |
114,903,428 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02086:Cd300ld2
|
APN |
11 |
114,903,384 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02111:Cd300ld2
|
APN |
11 |
114,903,219 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02505:Cd300ld2
|
APN |
11 |
114,904,513 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02517:Cd300ld2
|
APN |
11 |
114,901,249 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02836:Cd300ld2
|
APN |
11 |
114,904,576 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03081:Cd300ld2
|
APN |
11 |
114,903,368 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4486001:Cd300ld2
|
UTSW |
11 |
114,903,257 (GRCm39) |
small deletion |
probably benign |
|
|
R0579:Cd300ld2
|
UTSW |
11 |
114,903,125 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1065:Cd300ld2
|
UTSW |
11 |
114,904,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1481:Cd300ld2
|
UTSW |
11 |
114,903,459 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1583:Cd300ld2
|
UTSW |
11 |
114,904,603 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1755:Cd300ld2
|
UTSW |
11 |
114,904,601 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1865:Cd300ld2
|
UTSW |
11 |
114,903,444 (GRCm39) |
unclassified |
probably benign |
|
|
R4018:Cd300ld2
|
UTSW |
11 |
114,903,330 (GRCm39) |
unclassified |
probably benign |
|
|
R5516:Cd300ld2
|
UTSW |
11 |
114,903,270 (GRCm39) |
unclassified |
probably benign |
|
|
R6065:Cd300ld2
|
UTSW |
11 |
114,903,428 (GRCm39) |
unclassified |
probably benign |
|
|
R6927:Cd300ld2
|
UTSW |
11 |
114,904,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7874:Cd300ld2
|
UTSW |
11 |
114,903,257 (GRCm39) |
small deletion |
probably benign |
|
|
R7883:Cd300ld2
|
UTSW |
11 |
114,903,257 (GRCm39) |
small deletion |
probably benign |
|
|
R8044:Cd300ld2
|
UTSW |
11 |
114,904,545 (GRCm39) |
nonsense |
probably null |
|
|
R8263:Cd300ld2
|
UTSW |
11 |
114,903,192 (GRCm39) |
missense |
unknown |
|
|
R8306:Cd300ld2
|
UTSW |
11 |
114,904,648 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8424:Cd300ld2
|
UTSW |
11 |
114,903,257 (GRCm39) |
small deletion |
probably benign |
|
|
R8808:Cd300ld2
|
UTSW |
11 |
114,903,257 (GRCm39) |
small deletion |
probably benign |
|
|
R8847:Cd300ld2
|
UTSW |
11 |
114,903,257 (GRCm39) |
small deletion |
probably benign |
|
|
R9090:Cd300ld2
|
UTSW |
11 |
114,904,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9176:Cd300ld2
|
UTSW |
11 |
114,904,772 (GRCm39) |
nonsense |
probably null |
|
|
R9271:Cd300ld2
|
UTSW |
11 |
114,904,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9494:Cd300ld2
|
UTSW |
11 |
114,901,249 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9564:Cd300ld2
|
UTSW |
11 |
114,903,257 (GRCm39) |
small deletion |
probably benign |
|
|
R9720:Cd300ld2
|
UTSW |
11 |
114,903,118 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9727:Cd300ld2
|
UTSW |
11 |
114,903,257 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAATGTTCTCTGTGCCAATGC -3'
(R):5'- TCCTGATGGTGCCTGGAAATCGAG -3'
Sequencing Primer
(F):5'- GATGGCAGAACTGTGGATGG -3'
(R):5'- CGAGCTCCTTAATTCCTAGGGAA -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation